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Asymmetric Crying Facies
Wikipedia
Asymmetric crying facies Other names Cayler cardiofacial syndrome Specialty Medical genetics Asymmetric crying facies ( ACF ), also called partial unilateral facial paresis and hypoplasia of depressor angula oris muscle , [1] is a minor congenital anomaly caused by agenesis or hypoplasia of the depressor anguli oris muscle , one of the muscles that control the movements of the lower lip. ... When the hypoplasia of the depressor anguli oris muscle is associated with congenital cardiac defects, the term 'Cayler cardiofacial syndrome' is used. Cayler syndrome is part of 22q11.2 deletion syndrome . [2] It was characterized by Cayler in 1969. [3] References [ edit ] ^ Online Mendelian Inheritance in Man (OMIM): 125520 ^ Shashi V, Berry MN, Hines MH (September 2003). "Vasomotor instability in neonates with chromosome 22q11 deletion syndrome". American Journal of Medical Genetics . 121A (3): 231–4. doi : 10.1002/ajmg.a.20219 . PMID 12923863 . ^ Cayler GG (1969). "Cardiofacial syndrome. Congenital heart disease and facial weakness, a hitherto unrecognized association" . ... External links [ edit ] Classification D ICD - 10 : Q87.0 OMIM : 125520 MeSH : C535349 C535349, C535349 DiseasesDB : 32618 v t e Chromosome abnormalities Autosomal Trisomies /Tetrasomies Down syndrome 21 Edwards syndrome 18 Patau syndrome 13 Trisomy 9 Tetrasomy 9p Warkany syndrome 2 8 Cat eye syndrome / Trisomy 22 22 Trisomy 16 Monosomies / deletions ( 1q21.1 copy number variations / 1q21.1 deletion syndrome / 1q21.1 duplication syndrome / TAR syndrome / 1p36 deletion syndrome ) 1 Wolf–Hirschhorn syndrome 4 Cri du chat syndrome / Chromosome 5q deletion syndrome 5 Williams syndrome 7 Jacobsen syndrome 11 Miller–Dieker syndrome / Smith–Magenis syndrome 17 DiGeorge syndrome 22 22q11.2 distal deletion syndrome 22 22q13 deletion syndrome 22 genomic imprinting Angelman syndrome / Prader–Willi syndrome ( 15 ) Distal 18q- / Proximal 18q- X / Y linked Monosomy Turner syndrome (45,X) Trisomy / tetrasomy , other karyotypes / mosaics Klinefelter syndrome (47,XXY) XXYY syndrome (48,XXYY) XXXY syndrome (48,XXXY) 49,XXXYY 49,XXXXY Triple X syndrome (47,XXX) Tetrasomy X (48,XXXX) 49,XXXXX Jacobs syndrome (47,XYY) 48,XYYY 49,XYYYY 45,X/46,XY 46,XX/46,XY Translocations Leukemia / lymphoma Lymphoid Burkitt's lymphoma t(8 MYC ;14 IGH ) Follicular lymphoma t(14 IGH ;18 BCL2 ) Mantle cell lymphoma / Multiple myeloma t(11 CCND1 :14 IGH ) Anaplastic large-cell lymphoma t(2 ALK ;5 NPM1 ) Acute lymphoblastic leukemia Myeloid Philadelphia chromosome t(9 ABL ; 22 BCR ) Acute myeloblastic leukemia with maturation t(8 RUNX1T1 ;21 RUNX1 ) Acute promyelocytic leukemia t(15 PML ,17 RARA ) Acute megakaryoblastic leukemia t(1 RBM15 ;22 MKL1 ) Other Ewing's sarcoma t(11 FLI1 ; 22 EWS ) Synovial sarcoma t(x SYT ;18 SSX ) Dermatofibrosarcoma protuberans t(17 COL1A1 ;22 PDGFB ) Myxoid liposarcoma t(12 DDIT3 ; 16 FUS ) Desmoplastic small-round-cell tumor t(11 WT1 ; 22 EWS ) Alveolar rhabdomyosarcoma t(2 PAX3 ; 13 FOXO1 ) t (1 PAX7 ; 13 FOXO1 ) Other Fragile X syndrome Uniparental disomy XX male syndrome / 46,XX testicular disorders of sex development Marker chromosome Ring chromosome 6 ; 9 ; 14 ; 15 ; 18 ; 20 ; 21 , 22 This genetic disorder article is a stub .
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Enlarged Vestibular Aqueduct
Wikipedia
It was then defined by Valvassori and Clemis as a vestibular aqueduct that is greater than or equal to 2.0 mm at the operculum and/or greater than or equal to 1.0 mm at the midpoint. [2] Some use the term enlarged vestibular aqueduct syndrome but this is felt by others to be erroneous as it is a clinical finding which can occur in several syndromes. ... Enlarged vestibular aqueducts are caused by mutations in gene SLC26A4, which is also associated with Pendred's syndrome and non-syndromic recessive deafness. ... Enlarged vestibular aqueducts with enlarged endolymphatic sacs occur in Pendred syndrome which is caused by a defect on chromosome 7q31. [1] Enlarged vestibular aqueducts can also occur in Branchio-oto-renal syndrome, CHARGE syndrome and renal tubular acidosis . ... Hearing loss caused by large vestibular aqueduct syndrome is not inevitable, although people with the syndrome are at a much higher risk of developing hearing loss than the general population. ... External links [ edit ] Classification D OMIM : 600791 MeSH : C566366 v t e Genetic disorders relating to deficiencies of transcription factor or coregulators (1) Basic domains 1.2 Feingold syndrome Saethre–Chotzen syndrome 1.3 Tietz syndrome (2) Zinc finger DNA-binding domains 2.1 ( Intracellular receptor ): Thyroid hormone resistance Androgen insensitivity syndrome PAIS MAIS CAIS Kennedy's disease PHA1AD pseudohypoaldosteronism Estrogen insensitivity syndrome X-linked adrenal hypoplasia congenita MODY 1 Familial partial lipodystrophy 3 SF1 XY gonadal dysgenesis 2.2 Barakat syndrome Tricho–rhino–phalangeal syndrome 2.3 Greig cephalopolysyndactyly syndrome / Pallister–Hall syndrome Denys–Drash syndrome Duane-radial ray syndrome MODY 7 MRX 89 Townes–Brocks syndrome Acrocallosal syndrome Myotonic dystrophy 2 2.5 Autoimmune polyendocrine syndrome type 1 (3) Helix-turn-helix domains 3.1 ARX Ohtahara syndrome Lissencephaly X2 MNX1 Currarino syndrome HOXD13 SPD1 synpolydactyly PDX1 MODY 4 LMX1B Nail–patella syndrome MSX1 Tooth and nail syndrome OFC5 PITX2 Axenfeld syndrome 1 POU4F3 DFNA15 POU3F4 DFNX2 ZEB1 Posterior polymorphous corneal dystrophy Fuchs' dystrophy 3 ZEB2 Mowat–Wilson syndrome 3.2 PAX2 Papillorenal syndrome PAX3 Waardenburg syndrome 1&3 PAX4 MODY 9 PAX6 Gillespie syndrome Coloboma of optic nerve PAX8 Congenital hypothyroidism 2 PAX9 STHAG3 3.3 FOXC1 Axenfeld syndrome 3 Iridogoniodysgenesis, dominant type FOXC2 Lymphedema–distichiasis syndrome FOXE1 Bamforth–Lazarus syndrome FOXE3 Anterior segment mesenchymal dysgenesis FOXF1 ACD/MPV FOXI1 Enlarged vestibular aqueduct FOXL2 Premature ovarian failure 3 FOXP3 IPEX 3.5 IRF6 Van der Woude syndrome Popliteal pterygium syndrome (4) β-Scaffold factors with minor groove contacts 4.2 Hyperimmunoglobulin E syndrome 4.3 Holt–Oram syndrome Li–Fraumeni syndrome Ulnar–mammary syndrome 4.7 Campomelic dysplasia MODY 3 MODY 5 SF1 SRY XY gonadal dysgenesis Premature ovarian failure 7 SOX10 Waardenburg syndrome 4c Yemenite deaf-blind hypopigmentation syndrome 4.11 Cleidocranial dysostosis (0) Other transcription factors 0.6 Kabuki syndrome Ungrouped TCF4 Pitt–Hopkins syndrome ZFP57 TNDM1 TP63 Rapp–Hodgkin syndrome / Hay–Wells syndrome / Ectrodactyly–ectodermal dysplasia–cleft syndrome 3 / Limb–mammary syndrome / OFC8 Transcription coregulators Coactivator: CREBBP Rubinstein–Taybi syndrome Corepressor: HR ( Atrichia with papular lesions )
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Nasodigitoacoustic Syndrome
Wikipedia
Rare X-linked recessive genetic syndrome Nasodigitoacoustic syndrome Specialty Medical genetics Nasodigitoacoustic syndrome , also called Keipert syndrome , is a rare congenital syndrome first described by J.A. ... This can be hereditary and/or within a syndrome, as is the case with nasodigitoacoustic syndrome, [4] or attributed to infections such as viruses. ... "A new syndrome of broad terminal phalanges and facial abnormalities". ... J.; Dahl, H-H.; Bahlo, M. ; Bankier, A. (Oct 2007). "Keipert syndrome (Nasodigitoacoustic syndrome) is X-linked and maps to Xq22.2–Xq28". ... External links [ edit ] Classification D ICD - 10 : Q89.8 ICD - 9-CM : 759.7 OMIM : 255980 MeSH : C538337 Nasodigitoacoustic syndrome listing at the Office of Rare Diseases website Keipert syndrome - Orphanet v t e X-linked disorders X-linked recessive Immune Chronic granulomatous disease (CYBB) Wiskott–Aldrich syndrome X-linked severe combined immunodeficiency X-linked agammaglobulinemia Hyper-IgM syndrome type 1 IPEX X-linked lymphoproliferative disease Properdin deficiency Hematologic Haemophilia A Haemophilia B X-linked sideroblastic anemia Endocrine Androgen insensitivity syndrome / Spinal and bulbar muscular atrophy KAL1 Kallmann syndrome X-linked adrenal hypoplasia congenita Metabolic Amino acid : Ornithine transcarbamylase deficiency Oculocerebrorenal syndrome Dyslipidemia : Adrenoleukodystrophy Carbohydrate metabolism : Glucose-6-phosphate dehydrogenase deficiency Pyruvate dehydrogenase deficiency Danon disease/glycogen storage disease Type IIb Lipid storage disorder : Fabry's disease Mucopolysaccharidosis : Hunter syndrome Purine–pyrimidine metabolism : Lesch–Nyhan syndrome Mineral : Menkes disease / Occipital horn syndrome Nervous system X-linked intellectual disability : Coffin–Lowry syndrome MASA syndrome Alpha-thalassemia mental retardation syndrome Siderius X-linked mental retardation syndrome Eye disorders: Color blindness (red and green, but not blue) Ocular albinism ( 1 ) Norrie disease Choroideremia Other: Charcot–Marie–Tooth disease (CMTX2-3) Pelizaeus–Merzbacher disease SMAX2 Skin and related tissue Dyskeratosis congenita Hypohidrotic ectodermal dysplasia (EDA) X-linked ichthyosis X-linked endothelial corneal dystrophy Neuromuscular Becker's muscular dystrophy / Duchenne Centronuclear myopathy (MTM1) Conradi–Hünermann syndrome Emery–Dreifuss muscular dystrophy 1 Urologic Alport syndrome Dent's disease X-linked nephrogenic diabetes insipidus Bone / tooth AMELX Amelogenesis imperfecta No primary system Barth syndrome McLeod syndrome Smith–Fineman–Myers syndrome Simpson–Golabi–Behmel syndrome Mohr–Tranebjærg syndrome Nasodigitoacoustic syndrome X-linked dominant X-linked hypophosphatemia Focal dermal hypoplasia Fragile X syndrome Aicardi syndrome Incontinentia pigmenti Rett syndrome CHILD syndrome Lujan–Fryns syndrome Orofaciodigital syndrome 1 Craniofrontonasal dysplasia
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Xxxy Syndrome
Wikipedia
XXXX syndrome Other names 48,XXXY syndrome [1] XXXY syndrome is a genetic condition characterized by a sex chromosome aneuploidy , where males have two extra X chromosomes. [1] Males typically have only two sex chromosomes, an X and a Y. ... XXXY syndrome is therefore often referred to as 48,XXXY. ... Prepubescent boys with XXXY syndrome may not differ in physical appearance from a child without the syndrome. ... PMID 18442747 . ^ a b c d e f g h i j k l m n o p q r s Tartaglia, Nicole; Ayari, Natalie; Howell, Susan; D’Epagnier, Cheryl; Zeitler, Philip (2011-06-01). "48,XXYY, 48,XXXY and 49,XXXXY syndromes: not just variants of Klinefelter syndrome" . ... External links [ edit ] Classification D ICD - 10 : Q98.1 External resources Orphanet : 96263 v t e Chromosome abnormalities Autosomal Trisomies /Tetrasomies Down syndrome 21 Edwards syndrome 18 Patau syndrome 13 Trisomy 9 Tetrasomy 9p Warkany syndrome 2 8 Cat eye syndrome / Trisomy 22 22 Trisomy 16 Monosomies / deletions ( 1q21.1 copy number variations / 1q21.1 deletion syndrome / 1q21.1 duplication syndrome / TAR syndrome / 1p36 deletion syndrome ) 1 Wolf–Hirschhorn syndrome 4 Cri du chat syndrome / Chromosome 5q deletion syndrome 5 Williams syndrome 7 Jacobsen syndrome 11 Miller–Dieker syndrome / Smith–Magenis syndrome 17 DiGeorge syndrome 22 22q11.2 distal deletion syndrome 22 22q13 deletion syndrome 22 genomic imprinting Angelman syndrome / Prader–Willi syndrome ( 15 ) Distal 18q- / Proximal 18q- X / Y linked Monosomy Turner syndrome (45,X) Trisomy / tetrasomy , other karyotypes / mosaics Klinefelter syndrome (47,XXY) XXYY syndrome (48,XXYY) XXXY syndrome (48,XXXY) 49,XXXYY 49,XXXXY Triple X syndrome (47,XXX) Tetrasomy X (48,XXXX) 49,XXXXX Jacobs syndrome (47,XYY) 48,XYYY 49,XYYYY 45,X/46,XY 46,XX/46,XY Translocations Leukemia / lymphoma Lymphoid Burkitt's lymphoma t(8 MYC ;14 IGH ) Follicular lymphoma t(14 IGH ;18 BCL2 ) Mantle cell lymphoma / Multiple myeloma t(11 CCND1 :14 IGH ) Anaplastic large-cell lymphoma t(2 ALK ;5 NPM1 ) Acute lymphoblastic leukemia Myeloid Philadelphia chromosome t(9 ABL ; 22 BCR ) Acute myeloblastic leukemia with maturation t(8 RUNX1T1 ;21 RUNX1 ) Acute promyelocytic leukemia t(15 PML ,17 RARA ) Acute megakaryoblastic leukemia t(1 RBM15 ;22 MKL1 ) Other Ewing's sarcoma t(11 FLI1 ; 22 EWS ) Synovial sarcoma t(x SYT ;18 SSX ) Dermatofibrosarcoma protuberans t(17 COL1A1 ;22 PDGFB ) Myxoid liposarcoma t(12 DDIT3 ; 16 FUS ) Desmoplastic small-round-cell tumor t(11 WT1 ; 22 EWS ) Alveolar rhabdomyosarcoma t(2 PAX3 ; 13 FOXO1 ) t (1 PAX7 ; 13 FOXO1 ) Other Fragile X syndrome Uniparental disomy XX male syndrome / 46,XX testicular disorders of sex development Marker chromosome Ring chromosome 6 ; 9 ; 14 ; 15 ; 18 ; 20 ; 21 , 22
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Papillorenal Syndrome
Wikipedia
G. (2001). "Redefining papillorenal syndrome: An underdiagnosed cause of ocular and renal morbidity". ... PMID 11297491 . ^ a b c d e "Papillorenal Syndrome | Hereditary Ocular Diseases" . ^ Boffa LC, Vidali G, Allfrey VG (March 1976). ... R.; Stephens, K.; Adam, M. P. (1993). "Renal Coloboma Syndrome". PMID 20301624 . Cite journal requires |journal= ( help ) ^ "Renal coloboma syndrome – Genetics Home Reference" . ^ "Biology Department" . 2016-04-10. ^ Alur RP, Vijayasarathy C, Brown JD, et al. (March 2010). "Papillorenal syndrome-causing missense mutations in PAX2/Pax2 result in hypomorphic alleles in mouse and human" . ... External links [ edit ] Classification D OMIM : 120330 MeSH : C537168 DiseasesDB : 32086 GeneReview/NCBI/NIH/UW entry on Renal Coloboma Syndrome Papillorenal syndrome at NIH 's Office of Rare Diseases NCBI Genetic Testing Registry v t e Congenital malformations and deformations of urinary system Abdominal Kidney Renal agenesis / Potter sequence , Papillorenal syndrome cystic Polycystic kidney disease Meckel syndrome Multicystic dysplastic kidney Medullary sponge kidney Horseshoe kidney Renal ectopia Nephronophthisis Supernumerary kidney Pelvic kidney Dent's disease Alport syndrome Ureter Ectopic ureter Megaureter Duplicated ureter Pelvic Bladder Bladder exstrophy Urethra Epispadias Hypospadias Posterior urethral valves Penoscrotal transposition Vestigial Urachus Urachal cyst Urachal fistula Urachal sinus v t e Genetic disorders relating to deficiencies of transcription factor or coregulators (1) Basic domains 1.2 Feingold syndrome Saethre–Chotzen syndrome 1.3 Tietz syndrome (2) Zinc finger DNA-binding domains 2.1 ( Intracellular receptor ): Thyroid hormone resistance Androgen insensitivity syndrome PAIS MAIS CAIS Kennedy's disease PHA1AD pseudohypoaldosteronism Estrogen insensitivity syndrome X-linked adrenal hypoplasia congenita MODY 1 Familial partial lipodystrophy 3 SF1 XY gonadal dysgenesis 2.2 Barakat syndrome Tricho–rhino–phalangeal syndrome 2.3 Greig cephalopolysyndactyly syndrome / Pallister–Hall syndrome Denys–Drash syndrome Duane-radial ray syndrome MODY 7 MRX 89 Townes–Brocks syndrome Acrocallosal syndrome Myotonic dystrophy 2 2.5 Autoimmune polyendocrine syndrome type 1 (3) Helix-turn-helix domains 3.1 ARX Ohtahara syndrome Lissencephaly X2 MNX1 Currarino syndrome HOXD13 SPD1 synpolydactyly PDX1 MODY 4 LMX1B Nail–patella syndrome MSX1 Tooth and nail syndrome OFC5 PITX2 Axenfeld syndrome 1 POU4F3 DFNA15 POU3F4 DFNX2 ZEB1 Posterior polymorphous corneal dystrophy Fuchs' dystrophy 3 ZEB2 Mowat–Wilson syndrome 3.2 PAX2 Papillorenal syndrome PAX3 Waardenburg syndrome 1&3 PAX4 MODY 9 PAX6 Gillespie syndrome Coloboma of optic nerve PAX8 Congenital hypothyroidism 2 PAX9 STHAG3 3.3 FOXC1 Axenfeld syndrome 3 Iridogoniodysgenesis, dominant type FOXC2 Lymphedema–distichiasis syndrome FOXE1 Bamforth–Lazarus syndrome FOXE3 Anterior segment mesenchymal dysgenesis FOXF1 ACD/MPV FOXI1 Enlarged vestibular aqueduct FOXL2 Premature ovarian failure 3 FOXP3 IPEX 3.5 IRF6 Van der Woude syndrome Popliteal pterygium syndrome (4) β-Scaffold factors with minor groove contacts 4.2 Hyperimmunoglobulin E syndrome 4.3 Holt–Oram syndrome Li–Fraumeni syndrome Ulnar–mammary syndrome 4.7 Campomelic dysplasia MODY 3 MODY 5 SF1 SRY XY gonadal dysgenesis Premature ovarian failure 7 SOX10 Waardenburg syndrome 4c Yemenite deaf-blind hypopigmentation syndrome 4.11 Cleidocranial dysostosis (0) Other transcription factors 0.6 Kabuki syndrome Ungrouped TCF4 Pitt–Hopkins syndrome ZFP57 TNDM1 TP63 Rapp–Hodgkin syndrome / Hay–Wells syndrome / Ectrodactyly–ectodermal dysplasia–cleft syndrome 3 / Limb–mammary syndrome / OFC8 Transcription coregulators Coactivator: CREBBP Rubinstein–Taybi syndrome Corepressor: HR ( Atrichia with papular lesions )
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Satoyoshi Syndrome
Gard
Satoyoshi syndrome is a rare syndrome characterized by progressive, painful, intermittent muscle spasms. ... Women with Satoyoshi syndrome may not have a menstrual cycle ( amenorrhea ). In all published cases, only one person in a family has Satoyoshi syndrome. This is even true when the person with Satoyoshi syndrome comes from a large family. Satoyoshi syndrome seems to be more common in Japan. ... Satoyoshi syndrome can be diagnosed when a doctor sees symptoms that are consistent with the syndrome.
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Down Syndrome
Mayo_clinic
There are no known behavioral or environmental factors that cause Down syndrome. Is it inherited? Most of the time, Down syndrome isn't inherited. ... Being carriers of the genetic translocation for Down syndrome. Both men and women can pass the genetic translocation for Down syndrome on to their children. Having had one child with Down syndrome. Parents who have one child with Down syndrome and parents who have a translocation themselves are at an increased risk of having another child with Down syndrome. ... Prevention There's no way to prevent Down syndrome. If you're at high risk of having a child with Down syndrome or you already have one child with Down syndrome, you may want to consult a genetic counselor before becoming pregnant. ... People with Down syndrome can live fulfilling lives.S100B, SLC19A1, MTHFR, GATA1, RCAN1, SOD1, MIR155, DCR, MIR802, PRDX2, MIR125B2, MIR99A, VIP, PRDX6, CXCL8, CALCA, MIRLET7C, NTF3, GSTM2, DYRK1A, RPLP0, CBS, ETS2, ERG, JAK2, DSCAM, MAPT, CRLF2, MTR, MTRR, RUNX1, TP53, PAPPA, ACTB, APP, CBSL, APOE, AFP, SIM2, RFC1, PSEN1, COL6A1, TTC3, HTC2, CGB3, TNF, S100A1, CGA, POTEF, BACE1, BDNF, SOAT1, KCNJ6, CCL4L1, CCL4, CCL4L2, PLAC4, CGB5, CGB8, COL6A2, IL1B, IL6, CRELD1, DNMT3B, MECP2, SOD2, OLIG2, BACE2, ETV6, PGF, CASP3, RET, HLCS, GET1, EDNRB, PCNT, HMGN1, NEFL, IFNA1, SERPINA1, IFNG, IL1A, DOP1B, SYNJ1, IFNA13, MCIDAS, CAT, AIRE, ABL1, XPNPEP1, SH3BGR, CD6, SQSTM1, CHDH, ITSN1, ENO2, PRNP, SLC25A1, ADAM12, BHMT, IL10, CD19, POLB, CD34, MIR1246, DICER1, ITGB2, EZH2, FABP7, PTCH1, VEGFA, PIGP, GFAP, DNMT3L, CBR1, GART, GAPDH, RAB5A, ALB, HLA-A, PABPC4, TNFRSF10C, CHAF1B, AKT1, SUCLA2, CCL2, SET, FANCB, JAK3, REST, PCP4, BACH1, BCL2, CSF2, MTHFD1, BCHE, LEP, NOS3, CDKN2A, COL18A1, UBB, LAMC2, SNX27, HT, KIT, NFATC1, NGF, USP25, OXA1L, RENBP, NFIC, ABCG1, USP16, PRDX1, NFIB, CCND1, PTGS2, HMOX1, HMGB1, MX1, CALB2, NOP53, NCAM2, NFIA, MMP9, TRIB1, IKZF1, DSCR4, MPL, PIK3CD, KMT2A, APOA1, OPN1SW, BCR, ABCB1, ITGAM, ITGA2B, TARDBP, PKNOX1, INHA, ADIPOQ, RASSF1, PML, PFKL, IL10RB, IL2RA, IL2, IL1RN, IMMT, IGFBP7, STIP1, PRDX3, IFNAR2, RELN, TP73, IFIT3, CFAP410, NAE1, BCAR1, GRIK1, NFIX, GJB2, DHFR, U2AF1, CTNNB1, CTNND1, SYP, DBN1, DCK, DLX4, XRCC1, CD63, DPYSL2, SORL1, CD59, TMX2-CTNND1, MYL7, CSTB, TCN2, CSF3, CSE1L, TYMS, H3P7, TWIST1, ERVH48-1, TTN, P2RY8, COMT, TSHR, TGFB1, TGM2, ESCO1, TNFRSF1A, TPO, SLC12A5, CDA, FLT3, RHD, FAM3B, GATA4, FN1, TREM2, MTOR, PICALM, ARHGEF5, TRRAP, MATR3, USP9X, TXN, VAMP8, PSG10P, POU5F1P4, TNFSF10, TP63, TYRP1, GATD3A, APOBEC3B, MIR590, CCR2, GDF15, TTR, MIR3197, AKR7A2, RCAN2, LOH19CR1, DENR, H3P9, TPTE, HSP90B1, TRH, TRPM2, TSC2, MIR486-1, FXR2, ACTR2, PDXK, DNM1L, POU5F1P3, MAGI2, TMEM72, ZEB2, SCRN1, PHYHIP, ADAMTS1, YWHAG, DSCAM-AS1, GATD3B, EIF2B4, ZMYM2, IL1RL1, EIF2B2, RNF103-CHMP3, AVSD1, LPAR2, UBA3, FAS-AS1, MAP3K14, WT1, XIST, ZFY, HAP1, BCL10, EIF2S2, MTRNR2L12, COX5A, RECQL4, ZNF587B, NTN1, EIF2AK3, MIR3196, NRIP1, ABCG2, UBE3A, USP5, SOD2-OT1, UTRN, UVRAG, USP7, LINC02605, VIPR1, BEST1, MIR1973, MCM3AP, PAX8, VPREB1, TET3, SDS, DCAF7, ACKR3, ENOSF1, KIF21A, SEPTIN11, PARD3, NPDC1, SLC12A9, PLSCR4, STRBP, ACTR3B, AICDA, LRRC47, NUFIP2, MRTFA, RNF213, MIA3, RTL1, DCTN4, RBM11, NT5C3A, PRRX2, TDP2, CHMP3, RIPPLY3, BRWD1, SETD4, PACC1, RIPK4, C21orf91, RBFOX1, TET2, PGPEP1, STX17, LSM2, PRM3, HPSE2, TAF8, AP5B1, UBXN11, SLC13A5, MYL12B, PRRT2, DSCR9, AHSA2P, PRDM16, VENTXP1, LYPD4, STRC, TMPRSS6, ARX, HEPACAM, BAGE2, TMEM241, GLIS2, COL25A1, FGFBP2, ARHGAP24, MED25, LPAL2, TET1, DERL1, TAS2R62P, NANOS3, WNK1, GORASP1, CPEB1, NOD2, SAMSN1, HSPA14, COPS4, EFS, CKAP4, NES, ARPP19, PPARGC1A, PSG8, SUB1, PRSS21, DHFR2, CXCR6, STMN2, MMRN1, MCF2L, ICOSLG, SYNM, ANGPTL2, CHL1, KHDRBS1, APH1A, SLC9A6, TUBB3, RACK1, PEMT, OLFM1, MCRS1, MAD2L2, PLF, MYL12A, CIB1, DPYSL4, MRPL28, GNLY, AHSA1, SPAG5, HEY2, TMEM131, MORC3, REM1, CRCP, APEX2, HPGDS, MIR145, SGSM3, IGHV1-12, NXT1, FAM215A, LGALS13, CNOT7, GMPPA, ZBTB21, IL22, GMNN, GPR162, B3GAT1, CKAP2, PLA2G2D, APPL1, MIR146A, CHD5, MIR17, MTHFD1L, MIR183, MIR191, POC1A, MIR199B, MIR30C1, NUP62, MIR30C2, DAPK2, A1BG, PTH, TNNT2, EDNRA, EEF1A2, EGFR, EGR2, EGR3, EIF2B1, ELANE, ELK1, ENG, ENSA, EPAS1, ERBB2, ERCC2, ERCC3, ERF, ESR1, EEF1A1, E2F1, HP, DSG1, NKX2-5, CYP2B6, CYP17A1, CYP19A1, DBH, DBP, DGCR, DMD, DNAH8, DNASE1, DNMT1, DNMT3A, DPYSL3, DRD4, ATN1, ESR2, FABP3, FABP5, FBN2, GPT, GPX1, GPX3, GSN, GTF2H1, GYPA, GYPB, GYPE, HSD17B10, HAS2, CFH, HINT1, HLA-B, HLA-DQA1, HNMT, GPR42, GPI, GJA1, FLT1, FCGR3A, FCGR3B, FEB1, FGFR1, FGFR3, FLNA, FMR1, GHR, FYN, GABPA, GAD1, GAP43, GDI2, GH1, CST3, CRP, CRMP1, BTG1, ARNT, ARSA, STS, ARSD, ASPA, SERPINC1, AZGP1, BAX, BCL2L1, BCL6, BDKRB1, BGN, BLVRA, BMI1, BRS3, AQP4, APOC2, APOA2, ADRA1A, SERPINA3, ACO1, ACVR1, ADAR, PARP1, PARP4, ADRA2B, APEX1, ADRB2, AGA, AGTR1, AHSG, AMPH, ANK1, BST2, C9, CREB1, CA2, CHRNA7, CHRNB2, CLU, CCR5, CNR1, COL4A3, COL6A3, COL7A1, COX8A, CP, CPE, CPOX, CPS1, CPT1B, CR2, CHRNA4, CHRNA3, CHAT, CDK1, CAMP, CASP1, RUNX1T1, CD247, CD14, CD38, CDK6, CENPB, CDKN1A, CDKN1B, CDKN1C, CDKN2B, CEBPE, CECR, HNRNPA2B1, PRMT2, TLR4, PSMA5, PTPN4, PTPN11, PTPRF, PWP2, RAB4A, RARA, RBM4, RBP4, RCN1, RELA, BRD2, RPE65, RPL17, RPS19, RYR2, A2M, PSG5, HSPA4, PSEN2, PDYN, PGD, PIP4K2A, PLG, PLEK, PLTP, PRRX1, POLD1, PON1, POU5F1, PPP2CA, MAPK10, PRL, TMPRSS15, PSD, SETMAR, SFPQ, SRSF6, SH3BGRL, CDKL5, SYT1, TBX1, TCP1, TRBV20OR9-2, TEAD4, TERC, TFAM, TFCP2, TFF1, TG, THBS1, TIAM1, TIMP3, TLR2, HSPA13, STATH, STAT3, SLC6A4, SHBG, SHMT1, SHMT2, SHOX, SIM1, SLC5A3, SNAP25, STAT1, SNCA, FSCN1, SNRNP70, SOX11, SRY, SSTR4, PDGFB, PDE9A, PDE4C, MDM4, KCNE1, KCNJ15, KISS1, KNG1, KRT8, STMN1, LBP, LBR, LHCGR, LRP2, LTA4H, MAOA, MARK1, MBP, CD46, KCNA3, ITGAL, ISL1, IL7, HSPD1, ICAM1, IDE, IFNAR1, IGH, IL4, IL15, ISG20, IL16, IL17A, IDO1, INPP5D, INSL4, IRF1, MDM2, MME, PDE4B, MOS, NFKB1, NHS, NME1, NME2, NOS2, NPM1, NT5E, NTRK1, NR4A2, OCA2, PAH, PAK1, PAK3, PAX5, PCYT1A, NFE2L2, NFATC2, NEFH, RNR2, MPO, MRC1, MT2A, ATP6, ND3, MTNR1B, MYD88, NDUFV3, MYO9B, NACA, NAIP, NCAM1, NDUFA2, NDUFS3, H3P10
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22q11.2 Distal Deletion Syndrome
Wikipedia
22q11.2 distal deletion syndrome Other names Distal del(22)(q11.2) [1] Schematic overview of the 22q11.2 deletion region [2] 22q11.2 distal deletion syndrome is a rare genetic condition caused by a tiny missing part of one of the body’s 46 chromosomes – chromosome 22 . 22q11.2 distal deletion syndrome appears to be a recurrent genomic disorder distinct from DiGeorge syndrome (DGS; 188400) and velocardiofacial syndrome (VCFS; 192430). [3] The first published description of a person with a 22q11.2 distal deletion was in 1999. [4] There have since been hundreds of cases reported worldwide. 22q11.2 distal deletion syndrome seems to occur equally often in males and females. ... This is hereditary and people affected by distal deletion syndrome have a 50/50 chance of passing it to their children. ... See also [ edit ] 22q11.2 deletion syndrome References [ edit ] ^ RESERVED, INSERM US14-- ALL RIGHTS. ... PMID 22582037 . ^ Ben-Shachar, S; Ou Z; Shaw CA; Belmont JW; Patel MS; Hummel M; Amato S; Tartaglia N; Berg J; Sutton VR; Lalani SR; Chinault AC; Cheung SW; Lupski JR; Patel A (Jan 2008). "22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome" . ... External links [ edit ] Classification D OMIM : 611867 MeSH : C567511 v t e Chromosome abnormalities Autosomal Trisomies /Tetrasomies Down syndrome 21 Edwards syndrome 18 Patau syndrome 13 Trisomy 9 Tetrasomy 9p Warkany syndrome 2 8 Cat eye syndrome / Trisomy 22 22 Trisomy 16 Monosomies / deletions ( 1q21.1 copy number variations / 1q21.1 deletion syndrome / 1q21.1 duplication syndrome / TAR syndrome / 1p36 deletion syndrome ) 1 Wolf–Hirschhorn syndrome 4 Cri du chat syndrome / Chromosome 5q deletion syndrome 5 Williams syndrome 7 Jacobsen syndrome 11 Miller–Dieker syndrome / Smith–Magenis syndrome 17 DiGeorge syndrome 22 22q11.2 distal deletion syndrome 22 22q13 deletion syndrome 22 genomic imprinting Angelman syndrome / Prader–Willi syndrome ( 15 ) Distal 18q- / Proximal 18q- X / Y linked Monosomy Turner syndrome (45,X) Trisomy / tetrasomy , other karyotypes / mosaics Klinefelter syndrome (47,XXY) XXYY syndrome (48,XXYY) XXXY syndrome (48,XXXY) 49,XXXYY 49,XXXXY Triple X syndrome (47,XXX) Tetrasomy X (48,XXXX) 49,XXXXX Jacobs syndrome (47,XYY) 48,XYYY 49,XYYYY 45,X/46,XY 46,XX/46,XY Translocations Leukemia / lymphoma Lymphoid Burkitt's lymphoma t(8 MYC ;14 IGH ) Follicular lymphoma t(14 IGH ;18 BCL2 ) Mantle cell lymphoma / Multiple myeloma t(11 CCND1 :14 IGH ) Anaplastic large-cell lymphoma t(2 ALK ;5 NPM1 ) Acute lymphoblastic leukemia Myeloid Philadelphia chromosome t(9 ABL ; 22 BCR ) Acute myeloblastic leukemia with maturation t(8 RUNX1T1 ;21 RUNX1 ) Acute promyelocytic leukemia t(15 PML ,17 RARA ) Acute megakaryoblastic leukemia t(1 RBM15 ;22 MKL1 ) Other Ewing's sarcoma t(11 FLI1 ; 22 EWS ) Synovial sarcoma t(x SYT ;18 SSX ) Dermatofibrosarcoma protuberans t(17 COL1A1 ;22 PDGFB ) Myxoid liposarcoma t(12 DDIT3 ; 16 FUS ) Desmoplastic small-round-cell tumor t(11 WT1 ; 22 EWS ) Alveolar rhabdomyosarcoma t(2 PAX3 ; 13 FOXO1 ) t (1 PAX7 ; 13 FOXO1 ) Other Fragile X syndrome Uniparental disomy XX male syndrome / 46,XX testicular disorders of sex development Marker chromosome Ring chromosome 6 ; 9 ; 14 ; 15 ; 18 ; 20 ; 21 , 22
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Mcleod Syndrome
Wikipedia
This article is about the genetic disease of the blood, not MacLeod's syndrome (the lung disease). McLeod syndrome Other names McLeod phenomenon McLeod syndrome is inherited in an X-linked recessive manner. [1] McLeod syndrome (pronounced / m ə ˈ k l aʊ d / ) is an X-linked recessive genetic disorder that may affect the blood , brain , peripheral nerves , muscle , and heart . ... Absence of the XK protein is an X-linked disease . [3] Mutational variants result in McLeod syndrome either with or without neuroacanthocytosis : the gene on the X chromosome for McLeod syndrome is physically close to the gene for chronic granulomatous disease . ... Treatment [ edit ] There is no cure for McLeod syndrome; the treatment is supportive depending on symptoms. ... "McLeod phenotype without the McLeod syndrome". Transfusion . 47 (2): 299–305. doi : 10.1111/j.1537-2995.2007.01106.x . ... External links [ edit ] GeneReview/NIH/UW entry on McLeod Neuroacanthocytosis Syndrome Classification D OMIM : 314850 MeSH : C564038 DiseasesDB : 29708 External resources GeneReviews : McLeod Neuroacanthocytosis Syndrome v t e X-linked disorders X-linked recessive Immune Chronic granulomatous disease (CYBB) Wiskott–Aldrich syndrome X-linked severe combined immunodeficiency X-linked agammaglobulinemia Hyper-IgM syndrome type 1 IPEX X-linked lymphoproliferative disease Properdin deficiency Hematologic Haemophilia A Haemophilia B X-linked sideroblastic anemia Endocrine Androgen insensitivity syndrome / Spinal and bulbar muscular atrophy KAL1 Kallmann syndrome X-linked adrenal hypoplasia congenita Metabolic Amino acid : Ornithine transcarbamylase deficiency Oculocerebrorenal syndrome Dyslipidemia : Adrenoleukodystrophy Carbohydrate metabolism : Glucose-6-phosphate dehydrogenase deficiency Pyruvate dehydrogenase deficiency Danon disease/glycogen storage disease Type IIb Lipid storage disorder : Fabry's disease Mucopolysaccharidosis : Hunter syndrome Purine–pyrimidine metabolism : Lesch–Nyhan syndrome Mineral : Menkes disease / Occipital horn syndrome Nervous system X-linked intellectual disability : Coffin–Lowry syndrome MASA syndrome Alpha-thalassemia mental retardation syndrome Siderius X-linked mental retardation syndrome Eye disorders: Color blindness (red and green, but not blue) Ocular albinism ( 1 ) Norrie disease Choroideremia Other: Charcot–Marie–Tooth disease (CMTX2-3) Pelizaeus–Merzbacher disease SMAX2 Skin and related tissue Dyskeratosis congenita Hypohidrotic ectodermal dysplasia (EDA) X-linked ichthyosis X-linked endothelial corneal dystrophy Neuromuscular Becker's muscular dystrophy / Duchenne Centronuclear myopathy (MTM1) Conradi–Hünermann syndrome Emery–Dreifuss muscular dystrophy 1 Urologic Alport syndrome Dent's disease X-linked nephrogenic diabetes insipidus Bone / tooth AMELX Amelogenesis imperfecta No primary system Barth syndrome McLeod syndrome Smith–Fineman–Myers syndrome Simpson–Golabi–Behmel syndrome Mohr–Tranebjærg syndrome Nasodigitoacoustic syndrome X-linked dominant X-linked hypophosphatemia Focal dermal hypoplasia Fragile X syndrome Aicardi syndrome Incontinentia pigmenti Rett syndrome CHILD syndrome Lujan–Fryns syndrome Orofaciodigital syndrome 1 Craniofrontonasal dysplasia
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Familial Partial Lipodystrophy
Wikipedia
Familial partial lipodystrophy Other names FPLD [1] Specialty Dermatology , endocrinology Familial partial lipodystrophy , also known as Köbberling–Dunnigan syndrome , [2] is a rare genetic metabolic condition characterized by the loss of subcutaneous fat . [3] : 495 FPL also refers to a rare metabolic condition in which there is a loss of subcutaneous fat in the arms, legs and lower torso. ... Other conditions associated with this condition include acanthosis nigricans , fatty liver, hypertriglyceridemia and polycystic ovary syndrome in women. There is an increased risk of coronary heart disease. ... "Köbberling type of familial partial lipodystrophy: an underrecognized syndrome" . Diabetes Care . 26 (6): 1819–24. doi : 10.2337/diacare.26.6.1819 . ... External links [ edit ] Classification D ICD - 10 : E88.1 OMIM : 608600 MeSH : D052496 External resources Orphanet : 98306 v t e Disorders of subcutaneous fat Panniculitis Lobular without vasculitis Cold Cytophagic histiocytic Factitial Gouty Pancreatic Traumatic needle-shaped clefts Subcutaneous fat necrosis of the newborn Sclerema neonatorum Post-steroid panniculitis Lipodermatosclerosis Weber–Christian disease Lupus erythematosus panniculitis Sclerosing lipogranuloma with vasculitis: Nodular vasculitis / Erythema induratum Septal without vasculitis: Alpha-1 antitrypsin deficiency panniculitis Erythema nodosum Acute Chronic with vasculitis: Superficial thrombophlebitis Lipodystrophy Acquired generalized: Acquired generalized lipodystrophy partial: Acquired partial lipodystrophy Centrifugal abdominal lipodystrophy HIV-associated lipodystrophy Lipoatrophia annularis localized: Localized lipodystrophy Congenital Congenital generalized lipodystrophy Familial partial lipodystrophy Marfanoid–progeroid–lipodystrophy syndrome Poland syndrome v t e Cytoskeletal defects Microfilaments Myofilament Actin Hypertrophic cardiomyopathy 11 Dilated cardiomyopathy 1AA DFNA20 Nemaline myopathy 3 Myosin Elejalde syndrome Hypertrophic cardiomyopathy 1, 8, 10 Usher syndrome 1B Freeman–Sheldon syndrome DFN A3, 4, 11, 17, 22; B2, 30, 37, 48 May–Hegglin anomaly Troponin Hypertrophic cardiomyopathy 7, 2 Nemaline myopathy 4, 5 Tropomyosin Hypertrophic cardiomyopathy 3 Nemaline myopathy 1 Titin Hypertrophic cardiomyopathy 9 Other Fibrillin Marfan syndrome Weill–Marchesani syndrome Filamin FG syndrome 2 Boomerang dysplasia Larsen syndrome Terminal osseous dysplasia with pigmentary defects IF 1/2 Keratinopathy ( keratosis , keratoderma , hyperkeratosis ): KRT1 Striate palmoplantar keratoderma 3 Epidermolytic hyperkeratosis IHCM KRT2E ( Ichthyosis bullosa of Siemens ) KRT3 ( Meesmann juvenile epithelial corneal dystrophy ) KRT4 ( White sponge nevus ) KRT5 ( Epidermolysis bullosa simplex ) KRT8 ( Familial cirrhosis ) KRT10 ( Epidermolytic hyperkeratosis ) KRT12 ( Meesmann juvenile epithelial corneal dystrophy ) KRT13 ( White sponge nevus ) KRT14 ( Epidermolysis bullosa simplex ) KRT17 ( Steatocystoma multiplex ) KRT18 ( Familial cirrhosis ) KRT81 / KRT83 / KRT86 ( Monilethrix ) Naegeli–Franceschetti–Jadassohn syndrome Reticular pigmented anomaly of the flexures 3 Desmin : Desmin-related myofibrillar myopathy Dilated cardiomyopathy 1I GFAP : Alexander disease Peripherin : Amyotrophic lateral sclerosis 4 Neurofilament : Parkinson's disease Charcot–Marie–Tooth disease 1F, 2E Amyotrophic lateral sclerosis 5 Laminopathy : LMNA Mandibuloacral dysplasia Dunnigan Familial partial lipodystrophy Emery–Dreifuss muscular dystrophy 2 Limb-girdle muscular dystrophy 1B Charcot–Marie–Tooth disease 2B1 LMNB Barraquer–Simons syndrome LEMD3 Buschke–Ollendorff syndrome Osteopoikilosis LBR Pelger–Huet anomaly Hydrops-ectopic calcification-moth-eaten skeletal dysplasia Microtubules Kinesin Charcot–Marie–Tooth disease 2A Hereditary spastic paraplegia 10 Dynein Primary ciliary dyskinesia Short rib-polydactyly syndrome 3 Asphyxiating thoracic dysplasia 3 Other Tauopathy Cavernous venous malformation Membrane Spectrin : Spinocerebellar ataxia 5 Hereditary spherocytosis 2, 3 Hereditary elliptocytosis 2, 3 Ankyrin : Long QT syndrome 4 Hereditary spherocytosis 1 Catenin APC Gardner's syndrome Familial adenomatous polyposis plakoglobin ( Naxos syndrome ) GAN ( Giant axonal neuropathy ) Other desmoplakin : Striate palmoplantar keratoderma 2 Carvajal syndrome Arrhythmogenic right ventricular dysplasia 8 plectin : Epidermolysis bullosa simplex with muscular dystrophy Epidermolysis bullosa simplex of Ogna plakophilin : Skin fragility syndrome Arrhythmogenic right ventricular dysplasia 9 centrosome : PCNT ( Microcephalic osteodysplastic primordial dwarfism type II ) Related topics: Cytoskeletal proteins v t e Genetic disorders relating to deficiencies of transcription factor or coregulators (1) Basic domains 1.2 Feingold syndrome Saethre–Chotzen syndrome 1.3 Tietz syndrome (2) Zinc finger DNA-binding domains 2.1 ( Intracellular receptor ): Thyroid hormone resistance Androgen insensitivity syndrome PAIS MAIS CAIS Kennedy's disease PHA1AD pseudohypoaldosteronism Estrogen insensitivity syndrome X-linked adrenal hypoplasia congenita MODY 1 Familial partial lipodystrophy 3 SF1 XY gonadal dysgenesis 2.2 Barakat syndrome Tricho–rhino–phalangeal syndrome 2.3 Greig cephalopolysyndactyly syndrome / Pallister–Hall syndrome Denys–Drash syndrome Duane-radial ray syndrome MODY 7 MRX 89 Townes–Brocks syndrome Acrocallosal syndrome Myotonic dystrophy 2 2.5 Autoimmune polyendocrine syndrome type 1 (3) Helix-turn-helix domains 3.1 ARX Ohtahara syndrome Lissencephaly X2 MNX1 Currarino syndrome HOXD13 SPD1 synpolydactyly PDX1 MODY 4 LMX1B Nail–patella syndrome MSX1 Tooth and nail syndrome OFC5 PITX2 Axenfeld syndrome 1 POU4F3 DFNA15 POU3F4 DFNX2 ZEB1 Posterior polymorphous corneal dystrophy Fuchs' dystrophy 3 ZEB2 Mowat–Wilson syndrome 3.2 PAX2 Papillorenal syndrome PAX3 Waardenburg syndrome 1&3 PAX4 MODY 9 PAX6 Gillespie syndrome Coloboma of optic nerve PAX8 Congenital hypothyroidism 2 PAX9 STHAG3 3.3 FOXC1 Axenfeld syndrome 3 Iridogoniodysgenesis, dominant type FOXC2 Lymphedema–distichiasis syndrome FOXE1 Bamforth–Lazarus syndrome FOXE3 Anterior segment mesenchymal dysgenesis FOXF1 ACD/MPV FOXI1 Enlarged vestibular aqueduct FOXL2 Premature ovarian failure 3 FOXP3 IPEX 3.5 IRF6 Van der Woude syndrome Popliteal pterygium syndrome (4) β-Scaffold factors with minor groove contacts 4.2 Hyperimmunoglobulin E syndrome 4.3 Holt–Oram syndrome Li–Fraumeni syndrome Ulnar–mammary syndrome 4.7 Campomelic dysplasia MODY 3 MODY 5 SF1 SRY XY gonadal dysgenesis Premature ovarian failure 7 SOX10 Waardenburg syndrome 4c Yemenite deaf-blind hypopigmentation syndrome 4.11 Cleidocranial dysostosis (0) Other transcription factors 0.6 Kabuki syndrome Ungrouped TCF4 Pitt–Hopkins syndrome ZFP57 TNDM1 TP63 Rapp–Hodgkin syndrome / Hay–Wells syndrome / Ectrodactyly–ectodermal dysplasia–cleft syndrome 3 / Limb–mammary syndrome / OFC8 Transcription coregulators Coactivator: CREBBP Rubinstein–Taybi syndrome Corepressor: HR ( Atrichia with papular lesions )
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Schinzel–giedion Syndrome
Wikipedia
Schinzel–Giedion syndrome Other names Schinzel–Giedion midface retraction syndrome [1] This condition is inherited in an autosomal dominant manner Specialty Neurology Schinzel–Giedion syndrome ( SGS ) is a congenital neurodegenerative terminal syndrome. It was first described in 1978 by Albert Schinzel (1944–) and Andreas Giedion (1925–) [2] [3] as a syndrome with severe midface retraction, skull anomalies, renal anomalies ( hydronephrosis ) and other anomalies. Babies born with Schinzel–Giedion syndrome have severe mental retardation , growth retardation (unless fed through a feeding tube) and global developmental delay. [ citation needed ] See also [ edit ] SETBP1 References [ edit ] ^ "OMIM Entry - # 269150 - SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME" . omim.org . ... ^ Schinzel A, Giedion A (1978). "A syndrome of severe midface retraction, multiple skull anomalies, clubfeet, and cardiac and renal malformations in sibs". ... External links [ edit ] Classification D OMIM : 269150 MeSH : C536632 DiseasesDB : 32570 OMIM entry on Schinzel–Giedion midface retraction syndrome v t e Nucleus diseases Telomere Revesz syndrome Nucleolus Treacher Collins syndrome Spinocerebellar ataxia 7 Cajal body : Spinal muscular atrophy Centromere CENPJ Seckel syndrome 4 Other AAAS Triple-A syndrome Laminopathy SMC1A / SMC3 Cornelia de Lange Syndrome SETBP1 Schinzel–Giedion syndrome see also nucleus This article about a medical condition affecting the nervous system is a stub .
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Xx Gonadal Dysgenesis
Wikipedia
Estrogen and progesterone therapy is usually then commenced. This syndrome is inherited as an autosomal disease. ... Presentation [ edit ] Related conditions [ edit ] XX gonadal dysgenesis is related to the Swyer syndrome inasmuch as both conditions have the same phenotype and clinical issues; however in Swyer syndrome the karyotype is 46,XY, and thus gonadectomy is recommended. [2] In Turner syndrome there is a demonstrable abnormality in or absence of one of the sex chromosomes that is the cause of the development of gonadal dysgenesis. ... Another type of XX gonadal dysgenesis is known as 46,XX gonadal dysgenesis epibulbar dermoid, which follows the similar symptoms as the regular syndrome, though it also shows signs of epibulbar dermoid (eye disorder). [3] [4] [5] It has been suggested to be a new type of syndrome. [3] Pathogenesis [ edit ] The cause of the condition is often unclear. ... :Deux cas de syndrome de Turner avec surdi-mutite dans une meme fratrie. ... External links [ edit ] Classification D OMIM : 233300 XX gonadal dysgenesis 233400 Perrault syndrome MeSH : D023961 v t e Chromosome abnormalities Autosomal Trisomies /Tetrasomies Down syndrome 21 Edwards syndrome 18 Patau syndrome 13 Trisomy 9 Tetrasomy 9p Warkany syndrome 2 8 Cat eye syndrome / Trisomy 22 22 Trisomy 16 Monosomies / deletions ( 1q21.1 copy number variations / 1q21.1 deletion syndrome / 1q21.1 duplication syndrome / TAR syndrome / 1p36 deletion syndrome ) 1 Wolf–Hirschhorn syndrome 4 Cri du chat syndrome / Chromosome 5q deletion syndrome 5 Williams syndrome 7 Jacobsen syndrome 11 Miller–Dieker syndrome / Smith–Magenis syndrome 17 DiGeorge syndrome 22 22q11.2 distal deletion syndrome 22 22q13 deletion syndrome 22 genomic imprinting Angelman syndrome / Prader–Willi syndrome ( 15 ) Distal 18q- / Proximal 18q- X / Y linked Monosomy Turner syndrome (45,X) Trisomy / tetrasomy , other karyotypes / mosaics Klinefelter syndrome (47,XXY) XXYY syndrome (48,XXYY) XXXY syndrome (48,XXXY) 49,XXXYY 49,XXXXY Triple X syndrome (47,XXX) Tetrasomy X (48,XXXX) 49,XXXXX Jacobs syndrome (47,XYY) 48,XYYY 49,XYYYY 45,X/46,XY 46,XX/46,XY Translocations Leukemia / lymphoma Lymphoid Burkitt's lymphoma t(8 MYC ;14 IGH ) Follicular lymphoma t(14 IGH ;18 BCL2 ) Mantle cell lymphoma / Multiple myeloma t(11 CCND1 :14 IGH ) Anaplastic large-cell lymphoma t(2 ALK ;5 NPM1 ) Acute lymphoblastic leukemia Myeloid Philadelphia chromosome t(9 ABL ; 22 BCR ) Acute myeloblastic leukemia with maturation t(8 RUNX1T1 ;21 RUNX1 ) Acute promyelocytic leukemia t(15 PML ,17 RARA ) Acute megakaryoblastic leukemia t(1 RBM15 ;22 MKL1 ) Other Ewing's sarcoma t(11 FLI1 ; 22 EWS ) Synovial sarcoma t(x SYT ;18 SSX ) Dermatofibrosarcoma protuberans t(17 COL1A1 ;22 PDGFB ) Myxoid liposarcoma t(12 DDIT3 ; 16 FUS ) Desmoplastic small-round-cell tumor t(11 WT1 ; 22 EWS ) Alveolar rhabdomyosarcoma t(2 PAX3 ; 13 FOXO1 ) t (1 PAX7 ; 13 FOXO1 ) Other Fragile X syndrome Uniparental disomy XX male syndrome / 46,XX testicular disorders of sex development Marker chromosome Ring chromosome 6 ; 9 ; 14 ; 15 ; 18 ; 20 ; 21 , 22 v t e Cell surface receptor deficiencies G protein-coupled receptor (including hormone ) Class A TSHR ( Congenital hypothyroidism 1 ) LHCGR ( Luteinizing hormone insensitivity , Leydig cell hypoplasia , Male-limited precocious puberty ) FSHR ( Follicle-stimulating hormone insensitivity , XX gonadal dysgenesis ) GnRHR ( Gonadotropin-releasing hormone insensitivity ) EDNRB ( ABCD syndrome , Waardenburg syndrome 4a , Hirschsprung's disease 2 ) AVPR2 ( Nephrogenic diabetes insipidus 1 ) PTGER2 ( Aspirin-induced asthma ) Class B PTH1R ( Jansen's metaphyseal chondrodysplasia ) Class C CASR ( Familial hypocalciuric hypercalcemia ) Class F FZD4 ( Familial exudative vitreoretinopathy 1 ) Enzyme-linked receptor (including growth factor ) RTK ROR2 ( Robinow syndrome ) FGFR1 ( Pfeiffer syndrome , KAL2 Kallmann syndrome ) FGFR2 ( Apert syndrome , Antley–Bixler syndrome , Pfeiffer syndrome , Crouzon syndrome , Jackson–Weiss syndrome ) FGFR3 ( Achondroplasia , Hypochondroplasia , Thanatophoric dysplasia , Muenke syndrome ) INSR ( Donohue syndrome Rabson–Mendenhall syndrome ) NTRK1 ( Congenital insensitivity to pain with anhidrosis ) KIT ( KIT Piebaldism , Gastrointestinal stromal tumor ) STPK AMHR2 ( Persistent Müllerian duct syndrome II ) TGF beta receptors : Endoglin / Alk-1 / SMAD4 ( Hereditary hemorrhagic telangiectasia ) TGFBR1 / TGFBR2 ( Loeys–Dietz syndrome ) GC GUCY2D ( Leber's congenital amaurosis 1 ) JAK-STAT Type I cytokine receptor : GH ( Laron syndrome ) CSF2RA ( Surfactant metabolism dysfunction 4 ) MPL ( Congenital amegakaryocytic thrombocytopenia ) TNF receptor TNFRSF1A ( TNF receptor associated periodic syndrome ) TNFRSF13B ( Selective immunoglobulin A deficiency 2 ) TNFRSF5 ( Hyper-IgM syndrome type 3 ) TNFRSF13C ( CVID4 ) TNFRSF13B ( CVID2 ) TNFRSF6 ( Autoimmune lymphoproliferative syndrome 1A ) Lipid receptor LRP : LRP2 ( Donnai–Barrow syndrome ) LRP4 ( Cenani–Lenz syndactylism ) LRP5 ( Worth syndrome , Familial exudative vitreoretinopathy 4 , Osteopetrosis 1 ) LDLR ( LDLR Familial hypercholesterolemia ) Other/ungrouped Immunoglobulin superfamily : AGM3, 6 Integrin : LAD1 Glanzmann's thrombasthenia Junctional epidermolysis bullosa with pyloric atresia EDAR ( EDAR hypohidrotic ectodermal dysplasia ) PTCH1 ( Nevoid basal-cell carcinoma syndrome ) BMPR1A ( BMPR1A juvenile polyposis syndrome ) IL2RG ( X-linked severe combined immunodeficiency ) See also cell surface receptors
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Leydig Cell Hypoplasia
Wikipedia
Leydig cell hypoplasia Other names 46,XY DSD due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency This condition is inherited in an autosomal recessive manner [1] Leydig cell hypoplasia (or aplasia ) ( LCH ), also known as Leydig cell agenesis , is a rare autosomal recessive genetic and endocrine syndrome affecting an estimated 1 in 1,000,000 genetic males. ... Surgical correction of the genitals in 46,XY males may be required, and, if necessary, an orchidopexy (relocation of the undescended testes to the scrotum) may be performed as well. [3] See also [ edit ] Disorders of sex development Intersexuality , pseudohermaphroditism , and ambiguous genitalia Hypogonadism and hypogonadotropic hypogonadism Familial male-limited precocious puberty (or LH oversensitivity) Follicle-stimulating hormone insensitivity Gonadotropin-releasing hormone insensitivity Inborn errors of steroid metabolism Isolated 17,20-lyase deficiency Combined 17α-hydroxylase/17,20-lyase deficiency 17β-Hydroxysteroid dehydrogenase III deficiency Androgen insensitivity syndrome References [ edit ] ^ "OMIM Entry - # 238320 - LEYDIG CELL HYPOPLASIA, TYPE I" . omim.org . ... External links [ edit ] Classification D ICD - 10 : Q56.1 OMIM : 238320 MeSH : C562567 DiseasesDB : 30830 External resources MedlinePlus : http://ghr.nlm.nih.gov/condition/leydig-cell-hypoplasia Orphanet : 755 v t e Pituitary disease Hyperpituitarism Anterior Acromegaly Hyperprolactinaemia Pituitary ACTH hypersecretion Posterior SIADH General Nelson's syndrome Hypophysitis Hypopituitarism Anterior Kallmann syndrome Growth hormone deficiency Hypoprolactinemia ACTH deficiency / Secondary adrenal insufficiency GnRH insensitivity FSH insensitivity LH/hCG insensitivity Posterior Neurogenic diabetes insipidus General Empty sella syndrome Pituitary apoplexy Sheehan's syndrome Lymphocytic hypophysitis Pituitary adenoma v t e Genetic disorders relating to deficiencies of transcription factor or coregulators (1) Basic domains 1.2 Feingold syndrome Saethre–Chotzen syndrome 1.3 Tietz syndrome (2) Zinc finger DNA-binding domains 2.1 ( Intracellular receptor ): Thyroid hormone resistance Androgen insensitivity syndrome PAIS MAIS CAIS Kennedy's disease PHA1AD pseudohypoaldosteronism Estrogen insensitivity syndrome X-linked adrenal hypoplasia congenita MODY 1 Familial partial lipodystrophy 3 SF1 XY gonadal dysgenesis 2.2 Barakat syndrome Tricho–rhino–phalangeal syndrome 2.3 Greig cephalopolysyndactyly syndrome / Pallister–Hall syndrome Denys–Drash syndrome Duane-radial ray syndrome MODY 7 MRX 89 Townes–Brocks syndrome Acrocallosal syndrome Myotonic dystrophy 2 2.5 Autoimmune polyendocrine syndrome type 1 (3) Helix-turn-helix domains 3.1 ARX Ohtahara syndrome Lissencephaly X2 MNX1 Currarino syndrome HOXD13 SPD1 synpolydactyly PDX1 MODY 4 LMX1B Nail–patella syndrome MSX1 Tooth and nail syndrome OFC5 PITX2 Axenfeld syndrome 1 POU4F3 DFNA15 POU3F4 DFNX2 ZEB1 Posterior polymorphous corneal dystrophy Fuchs' dystrophy 3 ZEB2 Mowat–Wilson syndrome 3.2 PAX2 Papillorenal syndrome PAX3 Waardenburg syndrome 1&3 PAX4 MODY 9 PAX6 Gillespie syndrome Coloboma of optic nerve PAX8 Congenital hypothyroidism 2 PAX9 STHAG3 3.3 FOXC1 Axenfeld syndrome 3 Iridogoniodysgenesis, dominant type FOXC2 Lymphedema–distichiasis syndrome FOXE1 Bamforth–Lazarus syndrome FOXE3 Anterior segment mesenchymal dysgenesis FOXF1 ACD/MPV FOXI1 Enlarged vestibular aqueduct FOXL2 Premature ovarian failure 3 FOXP3 IPEX 3.5 IRF6 Van der Woude syndrome Popliteal pterygium syndrome (4) β-Scaffold factors with minor groove contacts 4.2 Hyperimmunoglobulin E syndrome 4.3 Holt–Oram syndrome Li–Fraumeni syndrome Ulnar–mammary syndrome 4.7 Campomelic dysplasia MODY 3 MODY 5 SF1 SRY XY gonadal dysgenesis Premature ovarian failure 7 SOX10 Waardenburg syndrome 4c Yemenite deaf-blind hypopigmentation syndrome 4.11 Cleidocranial dysostosis (0) Other transcription factors 0.6 Kabuki syndrome Ungrouped TCF4 Pitt–Hopkins syndrome ZFP57 TNDM1 TP63 Rapp–Hodgkin syndrome / Hay–Wells syndrome / Ectrodactyly–ectodermal dysplasia–cleft syndrome 3 / Limb–mammary syndrome / OFC8 Transcription coregulators Coactivator: CREBBP Rubinstein–Taybi syndrome Corepressor: HR ( Atrichia with papular lesions ) v t e Inborn errors of steroid metabolism Mevalonate pathway HMG-CoA lyase deficiency Hyper-IgD syndrome Mevalonate kinase deficiency To cholesterol 7-Dehydrocholesterol path: Hydrops-ectopic calcification-moth-eaten skeletal dysplasia CHILD syndrome Conradi-Hünermann syndrome Lathosterolosis Smith–Lemli–Opitz syndrome desmosterol path: Desmosterolosis Steroids Corticosteroid (including CAH ) aldosterone : Glucocorticoid remediable aldosteronism cortisol / cortisone : CAH 17α-hydroxylase CAH 11β-hydroxylase both: CAH 3β-dehydrogenase CAH 21-hydroxylase Apparent mineralocorticoid excess syndrome/11β-dehydrogenase Sex steroid To androgens 17α-Hydroxylase deficiency 17,20-Lyase deficiency Cytochrome b 5 deficiency 3β-Hydroxysteroid dehydrogenase deficiency 17β-Hydroxysteroid dehydrogenase deficiency 5α-Reductase deficiency Pseudovaginal perineoscrotal hypospadias To estrogens Aromatase deficiency Aromatase excess syndrome Other X-linked ichthyosis Antley–Bixler syndrome v t e Cell surface receptor deficiencies G protein-coupled receptor (including hormone ) Class A TSHR ( Congenital hypothyroidism 1 ) LHCGR ( Luteinizing hormone insensitivity , Leydig cell hypoplasia , Male-limited precocious puberty ) FSHR ( Follicle-stimulating hormone insensitivity , XX gonadal dysgenesis ) GnRHR ( Gonadotropin-releasing hormone insensitivity ) EDNRB ( ABCD syndrome , Waardenburg syndrome 4a , Hirschsprung's disease 2 ) AVPR2 ( Nephrogenic diabetes insipidus 1 ) PTGER2 ( Aspirin-induced asthma ) Class B PTH1R ( Jansen's metaphyseal chondrodysplasia ) Class C CASR ( Familial hypocalciuric hypercalcemia ) Class F FZD4 ( Familial exudative vitreoretinopathy 1 ) Enzyme-linked receptor (including growth factor ) RTK ROR2 ( Robinow syndrome ) FGFR1 ( Pfeiffer syndrome , KAL2 Kallmann syndrome ) FGFR2 ( Apert syndrome , Antley–Bixler syndrome , Pfeiffer syndrome , Crouzon syndrome , Jackson–Weiss syndrome ) FGFR3 ( Achondroplasia , Hypochondroplasia , Thanatophoric dysplasia , Muenke syndrome ) INSR ( Donohue syndrome Rabson–Mendenhall syndrome ) NTRK1 ( Congenital insensitivity to pain with anhidrosis ) KIT ( KIT Piebaldism , Gastrointestinal stromal tumor ) STPK AMHR2 ( Persistent Müllerian duct syndrome II ) TGF beta receptors : Endoglin / Alk-1 / SMAD4 ( Hereditary hemorrhagic telangiectasia ) TGFBR1 / TGFBR2 ( Loeys–Dietz syndrome ) GC GUCY2D ( Leber's congenital amaurosis 1 ) JAK-STAT Type I cytokine receptor : GH ( Laron syndrome ) CSF2RA ( Surfactant metabolism dysfunction 4 ) MPL ( Congenital amegakaryocytic thrombocytopenia ) TNF receptor TNFRSF1A ( TNF receptor associated periodic syndrome ) TNFRSF13B ( Selective immunoglobulin A deficiency 2 ) TNFRSF5 ( Hyper-IgM syndrome type 3 ) TNFRSF13C ( CVID4 ) TNFRSF13B ( CVID2 ) TNFRSF6 ( Autoimmune lymphoproliferative syndrome 1A ) Lipid receptor LRP : LRP2 ( Donnai–Barrow syndrome ) LRP4 ( Cenani–Lenz syndactylism ) LRP5 ( Worth syndrome , Familial exudative vitreoretinopathy 4 , Osteopetrosis 1 ) LDLR ( LDLR Familial hypercholesterolemia ) Other/ungrouped Immunoglobulin superfamily : AGM3, 6 Integrin : LAD1 Glanzmann's thrombasthenia Junctional epidermolysis bullosa with pyloric atresia EDAR ( EDAR hypohidrotic ectodermal dysplasia ) PTCH1 ( Nevoid basal-cell carcinoma syndrome ) BMPR1A ( BMPR1A juvenile polyposis syndrome ) IL2RG ( X-linked severe combined immunodeficiency ) See also cell surface receptors
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Mckusick–kaufman Syndrome
Wikipedia
McKusick–Kaufman syndrome McKusick–Kaufman syndrome is inherited in an autosomal recessive manner McKusick–Kaufman syndrome is a genetic condition associated with MKKS . ... Kaufman and Victor McKusick . [1] It is sometimes known by the abbreviation MKS. [2] In infancy it can be difficult to distinguish between MKS and the related Bardet–Biedl syndrome , as the more severe symptoms of the latter condition rarely materialise before adulthood. [3] McKusick-Kaufman syndrome affects 1 in 10,000 people in the Old Order Amish population. ... Diagnosis additionally requires ruling out Bardot-Biedl Syndrome . [6] Treatment [ edit ] Treatments are available for accompanying symptoms of MKS, including addressing polydactyly and congenital heart defects. [7] See also [ edit ] Bardet–Biedl syndrome Dominance (genetics) References [ edit ] ^ McKusick-Kaufman syndrome at Who Named It? ... "McKusick-Kaufman syndrome" . Genetics Home Reference . Retrieved 2018-11-07 . ^ Slavotinek AM, "McKusick-Kaufam Syndrome" , GeneReviews , 1993-2015 ^ Slavotinek, Anne M. (1993), Adam, Margaret P.; Ardinger, Holly H.; Pagon, Roberta A.; Wallace, Stephanie E. ... (eds.), "McKusick-Kaufman Syndrome" , GeneReviews® , University of Washington, Seattle, PMID 20301675 , retrieved 2018-11-07 External links [ edit ] Classification D ICD - 10 : Q87.8 OMIM : 236700 MeSH : C538159 C538159, C538159 DiseasesDB : 33261 External resources GeneReviews : McKusick-Kaufman Syndrome Orphanet : :2473 GeneReview/NIH/UW entry on McKusick–Kaufman Syndrome v t e Diseases of cilia Structural receptor: Polycystic kidney disease cargo: Asphyxiating thoracic dysplasia basal body : Bardet–Biedl syndrome mitotic spindle : Meckel syndrome centrosome : Joubert syndrome Signaling Nephronophthisis Other/ungrouped Alström syndrome Primary ciliary dyskinesia Senior–Løken syndrome Orofaciodigital syndrome 1 McKusick–Kaufman syndrome Autosomal recessive polycystic kidney See also: ciliary proteins This genetic disorder article is a stub .
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Marker Chromosome
Wikipedia
A marker can be composed of inactive genetic material and have little or no effect, or it can carry active genes and cause genetic conditions such as iso(12p), which is associated with Pallister-Killian syndrome , and iso(18p) , which is associated with mental retardation and syndromic facies . [3] Chromosome 15 has been observed to contribute to a high number of marker chromosomes, but the reason has not been determined. [1] References [ edit ] ^ a b Thompson & Thompson Genetics in Medicine, Chapter 5, 57-74 https://www.clinicalkey.com/#! ... Karger, Basel 2005 v t e Chromosome abnormalities Autosomal Trisomies /Tetrasomies Down syndrome 21 Edwards syndrome 18 Patau syndrome 13 Trisomy 9 Tetrasomy 9p Warkany syndrome 2 8 Cat eye syndrome / Trisomy 22 22 Trisomy 16 Monosomies / deletions ( 1q21.1 copy number variations / 1q21.1 deletion syndrome / 1q21.1 duplication syndrome / TAR syndrome / 1p36 deletion syndrome ) 1 Wolf–Hirschhorn syndrome 4 Cri du chat syndrome / Chromosome 5q deletion syndrome 5 Williams syndrome 7 Jacobsen syndrome 11 Miller–Dieker syndrome / Smith–Magenis syndrome 17 DiGeorge syndrome 22 22q11.2 distal deletion syndrome 22 22q13 deletion syndrome 22 genomic imprinting Angelman syndrome / Prader–Willi syndrome ( 15 ) Distal 18q- / Proximal 18q- X / Y linked Monosomy Turner syndrome (45,X) Trisomy / tetrasomy , other karyotypes / mosaics Klinefelter syndrome (47,XXY) XXYY syndrome (48,XXYY) XXXY syndrome (48,XXXY) 49,XXXYY 49,XXXXY Triple X syndrome (47,XXX) Tetrasomy X (48,XXXX) 49,XXXXX Jacobs syndrome (47,XYY) 48,XYYY 49,XYYYY 45,X/46,XY 46,XX/46,XY Translocations Leukemia / lymphoma Lymphoid Burkitt's lymphoma t(8 MYC ;14 IGH ) Follicular lymphoma t(14 IGH ;18 BCL2 ) Mantle cell lymphoma / Multiple myeloma t(11 CCND1 :14 IGH ) Anaplastic large-cell lymphoma t(2 ALK ;5 NPM1 ) Acute lymphoblastic leukemia Myeloid Philadelphia chromosome t(9 ABL ; 22 BCR ) Acute myeloblastic leukemia with maturation t(8 RUNX1T1 ;21 RUNX1 ) Acute promyelocytic leukemia t(15 PML ,17 RARA ) Acute megakaryoblastic leukemia t(1 RBM15 ;22 MKL1 ) Other Ewing's sarcoma t(11 FLI1 ; 22 EWS ) Synovial sarcoma t(x SYT ;18 SSX ) Dermatofibrosarcoma protuberans t(17 COL1A1 ;22 PDGFB ) Myxoid liposarcoma t(12 DDIT3 ; 16 FUS ) Desmoplastic small-round-cell tumor t(11 WT1 ; 22 EWS ) Alveolar rhabdomyosarcoma t(2 PAX3 ; 13 FOXO1 ) t (1 PAX7 ; 13 FOXO1 ) Other Fragile X syndrome Uniparental disomy XX male syndrome / 46,XX testicular disorders of sex development Marker chromosome Ring chromosome 6 ; 9 ; 14 ; 15 ; 18 ; 20 ; 21 , 22
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Trisomy 8
Wikipedia
Trisomy 8 Chromosome 8 Specialty Medical genetics Trisomy 8 causes Warkany syndrome 2 , [1] a human chromosomal disorder caused by having three copies ( trisomy ) of chromosome 8 . ... PMID 890109 . ^ Lai CC (1975). "Trisomy 8 syndrome". Clin. Orthop. Relat. Res . 110 : 238–43. doi : 10.1097/00003086-197507000-00034 . PMID 1157389 . ^ "MIM ID #268400 ROTHMUND-THOMSON SYNDROME; RTS" . NCBI/OMIM. ^ "MIM ID *134450 FACTOR VII REGULATOR; F7R" . NCBI/OMIM. ^ "MIM ID #190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1" . NCBI/OMIM. ^ "MIM ID #179613 RECOMBINANT CHROMOSOME 8 SYNDROME" . ... National Library of Medicine: Warkany Syndrome 2 v t e Chromosome abnormalities Autosomal Trisomies /Tetrasomies Down syndrome 21 Edwards syndrome 18 Patau syndrome 13 Trisomy 9 Tetrasomy 9p Warkany syndrome 2 8 Cat eye syndrome / Trisomy 22 22 Trisomy 16 Monosomies / deletions ( 1q21.1 copy number variations / 1q21.1 deletion syndrome / 1q21.1 duplication syndrome / TAR syndrome / 1p36 deletion syndrome ) 1 Wolf–Hirschhorn syndrome 4 Cri du chat syndrome / Chromosome 5q deletion syndrome 5 Williams syndrome 7 Jacobsen syndrome 11 Miller–Dieker syndrome / Smith–Magenis syndrome 17 DiGeorge syndrome 22 22q11.2 distal deletion syndrome 22 22q13 deletion syndrome 22 genomic imprinting Angelman syndrome / Prader–Willi syndrome ( 15 ) Distal 18q- / Proximal 18q- X / Y linked Monosomy Turner syndrome (45,X) Trisomy / tetrasomy , other karyotypes / mosaics Klinefelter syndrome (47,XXY) XXYY syndrome (48,XXYY) XXXY syndrome (48,XXXY) 49,XXXYY 49,XXXXY Triple X syndrome (47,XXX) Tetrasomy X (48,XXXX) 49,XXXXX Jacobs syndrome (47,XYY) 48,XYYY 49,XYYYY 45,X/46,XY 46,XX/46,XY Translocations Leukemia / lymphoma Lymphoid Burkitt's lymphoma t(8 MYC ;14 IGH ) Follicular lymphoma t(14 IGH ;18 BCL2 ) Mantle cell lymphoma / Multiple myeloma t(11 CCND1 :14 IGH ) Anaplastic large-cell lymphoma t(2 ALK ;5 NPM1 ) Acute lymphoblastic leukemia Myeloid Philadelphia chromosome t(9 ABL ; 22 BCR ) Acute myeloblastic leukemia with maturation t(8 RUNX1T1 ;21 RUNX1 ) Acute promyelocytic leukemia t(15 PML ,17 RARA ) Acute megakaryoblastic leukemia t(1 RBM15 ;22 MKL1 ) Other Ewing's sarcoma t(11 FLI1 ; 22 EWS ) Synovial sarcoma t(x SYT ;18 SSX ) Dermatofibrosarcoma protuberans t(17 COL1A1 ;22 PDGFB ) Myxoid liposarcoma t(12 DDIT3 ; 16 FUS ) Desmoplastic small-round-cell tumor t(11 WT1 ; 22 EWS ) Alveolar rhabdomyosarcoma t(2 PAX3 ; 13 FOXO1 ) t (1 PAX7 ; 13 FOXO1 ) Other Fragile X syndrome Uniparental disomy XX male syndrome / 46,XX testicular disorders of sex development Marker chromosome Ring chromosome 6 ; 9 ; 14 ; 15 ; 18 ; 20 ; 21 , 22
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Trichothiodystrophy
Wikipedia
Trichothiodystrophy Other names Amish brittle hair syndrome, BIDS syndrome, brittle hair–intellectual impairment–decreased fertility–short stature syndrome [1] This condition is inherited in an autosomal recessive manner. [1] Specialty Dermatology , medical genetics Trichothiodystrophy ( TTD ) is an autosomal recessive inherited disorder characterised by brittle hair and intellectual impairment. ... TTD may be subclassified into four syndromes: Approximately half of all patients with trichothiodystrophy have photosensitivity , which divides the classification into syndromes with or without photosensitivity; BIDS and PBIDS, and IBIDS and PIBIDS. ... The acronyms PIBIDS, IBIDS, BIDS and PBIDS give the initials of the words involved. BIDS syndrome, also called Amish brittle hair brain syndrome and hair-brain syndrome, [3] is an autosomal recessive [4] inherited disease. ... BIDS is characterized by brittle hair, intellectual impairment, decreased fertility, and short stature. [5] : 501 There is a photosensitive syndrome, PBIDS. [6] BIDS is associated with the gene MPLKIP (TTDN1). [7] IBIDS syndrome, following the acronym from ichthyosis, brittle hair and nails, intellectual impairment and short stature, is the Tay syndrome or sulfur-deficient brittle hair syndrome, first described by Tay in 1971. [8] (Chong Hai Tay was the Singaporean doctor who was the first doctor in South East Asia to have a disease named after him. [ citation needed ] ) Tay syndrome should not be confused with the Tay–Sachs disease . [5] : 485 [9] [10] [11] It is an autosomal recessive [12] congenital disease. [5] : 501 [13] In some cases, it can be diagnosed prenatally. [14] IBIDS syndrome is nonphotosensitive. ... External links [ edit ] NIH document on Tay syndrome Classification D ICD - 10 : L67.8 OMIM : 234050 300953 601675 616390 616395 616943 MeSH : D054463 SNOMED CT : 723551003 External resources Orphanet : 33364 v t e Congenital malformations and deformations of skin appendages Nail disease Anonychia Leukonychia Pachyonychia congenita / Onychauxis Koilonychia Hair disease hypotrichosis /abnormalities: keratin disease Monilethrix IBIDS syndrome Sabinas brittle hair syndrome Pili annulati Pili torti Uncombable hair syndrome Björnstad syndrome Giant axonal neuropathy with curly hair hypertrichosis : Zimmermann–Laband syndrome v t e Metabolic disease : DNA replication and DNA repair-deficiency disorder DNA replication Separation/initiation: RNASEH2A Aicardi–Goutières syndrome 4 Termination/ telomerase : DKC1 Dyskeratosis congenita DNA repair Nucleotide excision repair Cockayne syndrome / DeSanctis–Cacchione syndrome Thymine dimer Xeroderma pigmentosum IBIDS syndrome MSI / DNA mismatch repair Hereditary nonpolyposis colorectal cancer Muir–Torre syndrome Mismatch repair cancer syndrome MRN complex Ataxia telangiectasia Nijmegen breakage syndrome Other RecQ helicase Bloom syndrome Werner syndrome Rothmund–Thomson syndrome / Rapadilino syndrome Fanconi anemia Li-Fraumeni syndrome Severe combined immunodeficiency v t e Progeroid syndromes DNA repair RecQ-associated Werner syndrome Bloom syndrome Rothmund–Thomson syndrome NER protein-associated Cockayne syndrome Xeroderma pigmentosum Trichothiodystrophy Lamin A/C Hutchinson–Gilford progeria syndrome Restrictive dermopathy Other/related disorders Li–Fraumeni syndrome Rapadilino syndrome Baller–Gerold syndrome DeSanctis–Cacchione syndrome Nijmegen breakage syndrome Fanconi anemia Dyskeratosis congenita Ataxia telangiectasia De Barsy syndrome PIBI(D)S syndrome BIDS syndrome Marfanoid–progeroid–lipodystrophy syndrome See also: DNA replication and repair-deficiency disorder
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Smith–fineman–myers Syndrome
Wikipedia
Find sources: "Smith–Fineman–Myers syndrome" – news · newspapers · books · scholar · JSTOR ( August 2010 ) ( Learn how and when to remove this template message ) Smith–Fineman–Myers syndrome Other names X-linked mental retardation-hypotonic facies syndrome 1 (MRXHF1), Carpenter–Waziri syndrome , Chudley–Lowry syndrome , SFMS , Holmes–Gang syndrome and Juberg–Marsidi syndrome (JMS), [1] [2] Smith–Fineman–Myers syndrome has an X-linked recessive pattern of inheritance. Smith–Fineman–Myers syndrome (SFMS1) is a congenital disorder that causes birth defects . This syndrome was named after Richard D. Smith, Robert M. ... ATRX is a gene disease that is associated with other forms of X-linked mental retardation like Alpha-thalassemia/mental retardation syndrome , Carpenter syndrome , Juberg-Marsidi syndrome , and soastic paraplegia . ... External links [ edit ] Classification D OMIM : 309580 MeSH : C537445 DiseasesDB : 32665 SNOMED CT : 719212004 External resources Orphanet : 93974 v t e X-linked disorders X-linked recessive Immune Chronic granulomatous disease (CYBB) Wiskott–Aldrich syndrome X-linked severe combined immunodeficiency X-linked agammaglobulinemia Hyper-IgM syndrome type 1 IPEX X-linked lymphoproliferative disease Properdin deficiency Hematologic Haemophilia A Haemophilia B X-linked sideroblastic anemia Endocrine Androgen insensitivity syndrome / Spinal and bulbar muscular atrophy KAL1 Kallmann syndrome X-linked adrenal hypoplasia congenita Metabolic Amino acid : Ornithine transcarbamylase deficiency Oculocerebrorenal syndrome Dyslipidemia : Adrenoleukodystrophy Carbohydrate metabolism : Glucose-6-phosphate dehydrogenase deficiency Pyruvate dehydrogenase deficiency Danon disease/glycogen storage disease Type IIb Lipid storage disorder : Fabry's disease Mucopolysaccharidosis : Hunter syndrome Purine–pyrimidine metabolism : Lesch–Nyhan syndrome Mineral : Menkes disease / Occipital horn syndrome Nervous system X-linked intellectual disability : Coffin–Lowry syndrome MASA syndrome Alpha-thalassemia mental retardation syndrome Siderius X-linked mental retardation syndrome Eye disorders: Color blindness (red and green, but not blue) Ocular albinism ( 1 ) Norrie disease Choroideremia Other: Charcot–Marie–Tooth disease (CMTX2-3) Pelizaeus–Merzbacher disease SMAX2 Skin and related tissue Dyskeratosis congenita Hypohidrotic ectodermal dysplasia (EDA) X-linked ichthyosis X-linked endothelial corneal dystrophy Neuromuscular Becker's muscular dystrophy / Duchenne Centronuclear myopathy (MTM1) Conradi–Hünermann syndrome Emery–Dreifuss muscular dystrophy 1 Urologic Alport syndrome Dent's disease X-linked nephrogenic diabetes insipidus Bone / tooth AMELX Amelogenesis imperfecta No primary system Barth syndrome McLeod syndrome Smith–Fineman–Myers syndrome Simpson–Golabi–Behmel syndrome Mohr–Tranebjærg syndrome Nasodigitoacoustic syndrome X-linked dominant X-linked hypophosphatemia Focal dermal hypoplasia Fragile X syndrome Aicardi syndrome Incontinentia pigmenti Rett syndrome CHILD syndrome Lujan–Fryns syndrome Orofaciodigital syndrome 1 Craniofrontonasal dysplasia
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Pashayan Syndrome
Wikipedia
Pashayan syndrome Other names Pashayan–Pruzansky Syndrome This condition is inherited in an autosomal dominant manner [1] Pashayan syndrome , also known as Pashayan–Pruzansky Syndrome and blepharo-naso-facial syndrome , is a rare syndrome with Mendelian autosomal dominant inheritance with variable expression. An article describing a family with this syndrome was first published in 1973 in The American Journal of Diseases of Children by Drs Hermine Pashayan, Samuel Pruzansky and Allen Putterman from Abraham Lincoln School of Medicine, University of Illinois in Chicago . [2] Facial abnormalities characterise this syndrome as well as malformation of extremities. [3] Specific characteristics would be a bulky, flattened nose, where the face has a mask like appearance and the ears are also malformed. [4] A subset of Pashayan syndrome has also been described, known as "cerebrofacioarticular syndrome", "Van Maldergem syndrome'" or "Van Maldergem–Wetzburger–Verloes syndrome". Similar symptoms are noted in these cases as in Pashayan syndrome. [5] [6] [7] References [ edit ] ^ "OMIM Entry - 110050 - BLEPHARONASOFACIAL MALFORMATION SYNDROME" . omim.org . ... "A three generations family with blepharo-naso-facial malformations suggestive of Pashayan syndrome". Genetic Counseling . 10 (4): 337–43. ... PMID 1633641 . ^ Zampino, Giuseppe; Colosimo, Cesare; Balducci, Francesca; Mariotti, Paolo; Serra, Fabrizio; Scarano, Gioacchino; Mastroiacovo, Pierpaolo (28 June 2008). "Cerebro-facio-articular syndrome of Van Maldergem: confirmation of a new MR/MCA syndrome".
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Septo-Optic Dysplasia
Wikipedia
Septo-optic dysplasia Other names de Morsier syndrome [1] [2] The optic nerve is underdeveloped in this condition Specialty Ophthalmology Septo-optic dysplasia ( SOD ), known also as de Morsier syndrome , is a rare congenital malformation syndrome that features a combination of the underdevelopment of the optic nerve , pituitary gland dysfunction, and absence of the septum pellucidum (a midline part of the brain). ... In 1970 American doctor William Hoyt made the connection between the three features of SOD and named the syndrome after de Morsier. [9] References [ edit ] ^ synd/2548 at Who Named It? ... "Reappraisal of the Optic Nerve Hypoplasia Syndrome" (PDF) . Journal of Neuro-Opthalmology . 32 (1): 58–67. doi : 10.1097/WNO.0b013e31824442b8 . ... External links [ edit ] Classification D ICD - 10 : Q04.4 ICD - 9-CM : 742.2 OMIM : 182230 MeSH : D025962 DiseasesDB : 32732 v t e Congenital malformations and deformations of nervous system Brain Neural tube defect Anencephaly Acephaly Acrania Acalvaria Iniencephaly Encephalocele Chiari malformation Other Microcephaly Congenital hydrocephalus Dandy–Walker syndrome other reduction deformities Holoprosencephaly Lissencephaly Microlissencephaly Pachygyria Hydranencephaly Septo-optic dysplasia Megalencephaly Hemimegalencephaly CNS cyst Porencephaly Schizencephaly Polymicrogyria Bilateral frontoparietal polymicrogyria Spinal cord Neural tube defect Spina bifida Rachischisis Other Currarino syndrome Diastomatomyelia Syringomyelia v t e Genetic disorders relating to deficiencies of transcription factor or coregulators (1) Basic domains 1.2 Feingold syndrome Saethre–Chotzen syndrome 1.3 Tietz syndrome (2) Zinc finger DNA-binding domains 2.1 ( Intracellular receptor ): Thyroid hormone resistance Androgen insensitivity syndrome PAIS MAIS CAIS Kennedy's disease PHA1AD pseudohypoaldosteronism Estrogen insensitivity syndrome X-linked adrenal hypoplasia congenita MODY 1 Familial partial lipodystrophy 3 SF1 XY gonadal dysgenesis 2.2 Barakat syndrome Tricho–rhino–phalangeal syndrome 2.3 Greig cephalopolysyndactyly syndrome / Pallister–Hall syndrome Denys–Drash syndrome Duane-radial ray syndrome MODY 7 MRX 89 Townes–Brocks syndrome Acrocallosal syndrome Myotonic dystrophy 2 2.5 Autoimmune polyendocrine syndrome type 1 (3) Helix-turn-helix domains 3.1 ARX Ohtahara syndrome Lissencephaly X2 MNX1 Currarino syndrome HOXD13 SPD1 synpolydactyly PDX1 MODY 4 LMX1B Nail–patella syndrome MSX1 Tooth and nail syndrome OFC5 PITX2 Axenfeld syndrome 1 POU4F3 DFNA15 POU3F4 DFNX2 ZEB1 Posterior polymorphous corneal dystrophy Fuchs' dystrophy 3 ZEB2 Mowat–Wilson syndrome 3.2 PAX2 Papillorenal syndrome PAX3 Waardenburg syndrome 1&3 PAX4 MODY 9 PAX6 Gillespie syndrome Coloboma of optic nerve PAX8 Congenital hypothyroidism 2 PAX9 STHAG3 3.3 FOXC1 Axenfeld syndrome 3 Iridogoniodysgenesis, dominant type FOXC2 Lymphedema–distichiasis syndrome FOXE1 Bamforth–Lazarus syndrome FOXE3 Anterior segment mesenchymal dysgenesis FOXF1 ACD/MPV FOXI1 Enlarged vestibular aqueduct FOXL2 Premature ovarian failure 3 FOXP3 IPEX 3.5 IRF6 Van der Woude syndrome Popliteal pterygium syndrome (4) β-Scaffold factors with minor groove contacts 4.2 Hyperimmunoglobulin E syndrome 4.3 Holt–Oram syndrome Li–Fraumeni syndrome Ulnar–mammary syndrome 4.7 Campomelic dysplasia MODY 3 MODY 5 SF1 SRY XY gonadal dysgenesis Premature ovarian failure 7 SOX10 Waardenburg syndrome 4c Yemenite deaf-blind hypopigmentation syndrome 4.11 Cleidocranial dysostosis (0) Other transcription factors 0.6 Kabuki syndrome Ungrouped TCF4 Pitt–Hopkins syndrome ZFP57 TNDM1 TP63 Rapp–Hodgkin syndrome / Hay–Wells syndrome / Ectrodactyly–ectodermal dysplasia–cleft syndrome 3 / Limb–mammary syndrome / OFC8 Transcription coregulators Coactivator: CREBBP Rubinstein–Taybi syndrome Corepressor: HR ( Atrichia with papular lesions )