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Virus Associated Hemophagocytic Syndrome
Gard
Virus associated hemophagocytic syndrome is a very serious complication of a viral infection. Signs and symptoms of virus associated hemophagocytic syndrome, include high fever, liver problems , enlarged liver and spleen, coagulation factor abnormalities, decreased red or white blood cells and platelets (pancytopenia), and a build-up of histiocytes, a type of immune cell, in various tissues in the body resulting in the destruction of blood-producing cells (histiocytic proliferation with prominent hemophagocytosis). ... Treatment is challenging and approach will vary depending on the age and medical history of the patient. Complications of this syndrome can become life threatening. Related conditions (conditions with overlapping signs and symptoms), include histiocytic medullary reticulosis (HMR), familial hemophagocytic lymphohistiocytosis (FHL), and X-linked lymphoproliferative syndrome .
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Tarsal-Carpal Coalition Syndrome
Orphanet
Tarsal-carpal coalition syndrome is characterised by fusion of the carpals, tarsals, and phalanges. ... Etiology Causative mutations in the NOG gene have recently been identified, showing that this syndrome is an allelic variant of symphalangism. Differential diagnosis Tarsal-carpal coalition syndrome can be distinguished from multiple synostoses syndrome and proximal symphalangism (see these terms) by the absence of hearing loss.NOG, TP53, CDKN2A, SPG11, H3P10, VEGFA, PCNA, ERBB2, BCL2, EGFR, CTNNB1, TGFB1, UPK2, C17orf97, KRT20, PTGS2, CDKN1A, GSTM1, DAPK1, MTCO2P12, COX2, CD44, MRC1, ZFYVE26, CDK2, GSTP1, CXCL8, SLC12A9, APAF1, PTEN, UCA1, PLAU, NME1, PAX5, ELK1, GSTT1, MMP9, EZH2, MSH2, VIM, GAPDH, IGFBP3, BRAF, SPG7, HRAS, CDH13, GSTO1, UPP2, CA2, ARID1A, DLGAP5, HERPUD1, PSCA, MLRL, AIMP2, FEZ1, TP63, DOC2A, GRAP2, HOTAIR, NEURL1, PPM1D, SPAG9, NOL3, TNKS, MIR21, REEP5, PAX8, SNAP25, SPAST, SYK, NR2F1, H3P9, TGFA, LOC110806263, TGFBI, TGFBR1, TM7SF2, TSC1, TYK2, UPK1B, MIR3713, UPK3A, UVRAG, TRAP, XRCC1, XRCC5, MZF1, ZNF165, SLC12A6, BLCAP, FLOT1, WLS, DGCR8, CEP55, IFT122, CCL28, RLFP1, PCDH10, CIP2A, SPG16, CTAGE1, MARCKSL1, LIN28A, POU5F1P4, CCR2, CHD6, SFXN1, PRAP1, GSTO2, KCNH8, CD200R1, POU5F1P3, ODF4, CTAG1A, CAGE1, MIR320A, KRT8P3, ZBTB7A, SEMA4D, CCL2, CIB2, MRPL28, AHSA1, POSTN, PLK2, MIR130B, SUB1, CKAP4, KCNQ1OT1, LZTS1, ZHX2, NT5C2, UBIAD1, TBC1D9, DICER1, KCNH4, CBX7, CABIN1, RNF19A, POLDIP2, HPGDS, NXT1, UHRF1, TMOD4, CXCL11, ABO, SAI1, BRINP1, TIMM8A, CYB5R3, DNMT1, DNMT3A, DNMT3B, E2F1, E2F3, ELAVL3, EPHB2, EPHB4, ERBB4, ESR1, FGF2, FGFR3, FHIT, FLT1, FN1, XRCC6, GATA6, GLB1, GLI1, GLS, GNAS, GNB3, PRLHR, DCC, DAB2, S100A12, CTAG1B, ALOX5, ANGPT1, ANGPT2, ANXA1, AR, ASS1, BAX, CCND1, BDNF, BSG, VPS51, SLC25A20, CAPG, CAV1, CD80, CD86, CDK1, CDK4, CDKN1C, CDKN2B, CISH, CCR5, CRK, MAPK14, CSF2, GSTA1, MSH6, HCRTR2, HLA-A, MTHFR, MTR, MUC1, NEDD9, NEU1, NF1, NTRK2, PEBP1, ABCB1, PLAUR, PMAIP1, POLD1, AGER, PPP1R1A, PRKCA, MAPK1, MAP2K7, PRSS8, PRTN3, PTCH1, MOK, RAF1, RB1, RPE65, S100A4, ABCC1, CD200, MMP13, ITGB3, HOXA13, HTC2, IFNG, IGF1, IGF2, IGFBP7, IL1B, IL2RA, IL4, IL6, ISG20, CD82, MMP2, KIR3DL1, KRT8, STMN1, LASP1, LCN1, MAGEB4, MDM2, MGMT, CD99, MKI67, MLH1, POU5F1
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Ataxia-Microcephaly-Cataract Syndrome
Omim
The one individual appeared to be affected with both ataxia-telangiectasia and the AMC syndrome. Findings of the AMC syndrome resembled the Marinesco-Sjogren syndrome (MSS; 248800); however, microcephaly is not part of MSS, and mental retardation was present in only 1 of the AMC patients. Cataract is not characteristic of any of the known disorders that simulate ataxia-telangiectasia. That the AMC syndrome was an entity separate from AT in the Arab family was indicated by linkage studies.
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Guttmacher Syndrome
Orphanet
Guttmacher syndrome is an extremely rare syndrome characterized by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias. ... Except for postaxial polydactyly of the hands and uniphalangeal 2nd toes with absent nails, features are in common with hand-foot-genital syndrome (HFGS, see this term) caused by mutations in the HOXA13 gene. Etiology In all three affected individuals with Guttmacher syndrome, two different sequence alterations were identified in HOXA13 gene: a de novo missense mutation and a deletion in the promoter region of the gene, inherited from an unaffected parent, which may contribute to the phenotype in the affected individuals.
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Nodding Syndrome
Gard
Nodding syndrome is a rare form of epilepsy that occurs in children between the ages of 5 and 16. ... Signs and symptoms of the condition include head nodding, seizures, stunted growth, and deterioration of cognitive abilities. Nodding syndrome may lead to malnutrition or even death through seizure-associated accidents. Many studies have identified an association between Nodding syndrome and Onchocerca volvulus , a parasitic worm that can also cause a condition called river blindness . ... Although there is currently no cure for Nodding syndrome, medical centers in Uganda have shown that treatment with certain medications (antiepileptic drugs and ivermectin ), adequate nutrition, and psychosocial support can improve the long-term outlook of the condition.
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Gastrocutaneous Syndrome
Wikipedia
Gastrocutaneous syndrome Other names Peptic ulcer/hiatal hernia, multiple lentigines/cafe-au-lait spots, hypertelorism, myopia [1] Specialty Dermatology Gastrocutaneous syndrome is a rare autosomal dominant cutaneous condition characterized by multiple lentigines . [2] See also [ edit ] Gardner's syndrome List of cutaneous conditions References [ edit ] ^ "Gastrocutaneous syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" . rarediseases.info.nih.gov .
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Floppy Eyelid Syndrome
Wikipedia
Floppy eyelid syndrome is a disease whose most prominent features often include floppy upper eyelids that can be easily everted, as well as papillary conjunctivitis . [1] It is often associated with patients with high body mass index and obstructive sleep apnea . Floppy eyelid syndrome is thought to revolve around the upregulation of elastin -degrading enzymes , as well as mechanical factors. These can cause instability of the eyelid scaffold, resulting in the malposition of the eyelid. [2] References [ edit ] ^ Parunovic, A. (1983). "Floppy eyelid syndrome" . British Journal of Ophthalmology . 67 (4): 264–266. doi : 10.1136/bjo.67.4.264 . ... PMID 6830745 . ^ Pham, Thu T.; Perry, Julian D. (2007). "Floppy eyelid syndrome". Current Opinion in Ophthalmology . 18 (5): 430–433. doi : 10.1097/ICU.0b013e3282ced08e .
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Autosomal Recessive Alport Syndrome
Gard
Autosomal recessive Alport syndrome is a genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease. People with Alport syndrome frequently develop sensorineural hearing loss in late childhood or early adolescence. The eye abnormalities seen in this condition seldom lead to vision loss. Alport syndrome can have different patterns of inheritance. About 15 percent of Alport syndrome cases are inherited in an autosomal recessive pattern and are caused by mutations in both copies of the COL4A3 or COL4A4 genes.
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Goldmann-Favre Syndrome
Gard
Goldmann-Favre syndrome , also known as the severe form of enhanced S-cone syndrome, is a inherited eye disease that affects the light-sensitive part of the eye ( retina ). Within the retina are "red," "blue," and "green" cones which allow us to see colors properly; and rods which allows us to see in dim light. People with Goldmann-Favre syndrome are born with an overabundance of blue cones, a reduced number of red and green cones, and few, if any, functional rods. As a result they experience an increased sensitivity to blue light, varying degrees of red and green cone vision, night blindness occurring from early life, vision loss, and retinal degeneration. Goldmann-Favre syndrome can be caused by mutations in the NR2E3 gene and is inherited in an autosomal recessive fashion.Treatment may include laser photocoagulation and medication, such as acetazolamide , dorzolamide and cyclosporin A .
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Mucolipidosis Type Iv
Wikipedia
External links [ edit ] Classification D ICD - 10 : E75.1 OMIM : 252650 MeSH : D009081 DiseasesDB : 32693 External resources GeneReviews : Mucolipidosis IV Mucolipidosis type 4 at NIH 's Office of Rare Diseases v t e Lysosomal storage diseases : Inborn errors of carbohydrate metabolism ( Glycoproteinoses ) Anabolism Dolichol kinase deficiency Congenital disorder of glycosylation Post-translational modification of lysosomal enzymes Mucolipidosis : I-cell disease (ML II) Pseudo-Hurler polydystrophy (ML III) Catabolism Aspartylglucosaminuria Fucosidosis mannosidosis Alpha-mannosidosis Beta-mannosidosis Sialidosis Schindler disease Other solute carrier family ( Salla disease ) Galactosialidosis v t e Diseases of ion channels Calcium channel Voltage-gated CACNA1A Familial hemiplegic migraine 1 Episodic ataxia 2 Spinocerebellar ataxia type-6 CACNA1C Timothy syndrome Brugada syndrome 3 Long QT syndrome 8 CACNA1F Ocular albinism 2 CSNB2A CACNA1S Hypokalemic periodic paralysis 1 Thyrotoxic periodic paralysis 1 CACNB2 Brugada syndrome 4 Ligand gated RYR1 Malignant hyperthermia Central core disease RYR2 CPVT1 ARVD2 Sodium channel Voltage-gated SCN1A Familial hemiplegic migraine 3 GEFS+ 2 Febrile seizure 3A SCN1B Brugada syndrome 6 GEFS+ 1 SCN4A Hypokalemic periodic paralysis 2 Hyperkalemic periodic paralysis Paramyotonia congenita Potassium-aggravated myotonia SCN4B Long QT syndrome 10 SCN5A Brugada syndrome 1 Long QT syndrome 3 SCN9A Erythromelalgia Febrile seizure 3B Paroxysmal extreme pain disorder Congenital insensitivity to pain Constitutively active SCNN1B / SCNN1G Liddle's syndrome SCNN1A / SCNN1B / SCNN1G Pseudohypoaldosteronism 1AR Potassium channel Voltage-gated KCNA1 Episodic ataxia 1 KCNA5 Familial atrial fibrillation 7 KCNC3 Spinocerebellar ataxia type-13 KCNE1 Jervell and Lange-Nielsen syndrome Long QT syndrome 5 KCNE2 Long QT syndrome 6 KCNE3 Brugada syndrome 5 KCNH2 Short QT syndrome KCNQ1 Jervell and Lange-Nielsen syndrome Romano–Ward syndrome Short QT syndrome Long QT syndrome 1 Familial atrial fibrillation 3 KCNQ2 BFNS1 Inward-rectifier KCNJ1 Bartter syndrome 2 KCNJ2 Andersen–Tawil syndrome Long QT syndrome 7 Short QT syndrome KCNJ11 TNDM3 KCNJ18 Thyrotoxic periodic paralysis 2 Chloride channel CFTR Cystic fibrosis Congenital absence of the vas deferens CLCN1 Thomsen disease Myotonia congenita CLCN5 Dent's disease CLCN7 Osteopetrosis A2, B4 BEST1 Vitelliform macular dystrophy CLCNKB Bartter syndrome 3 TRP channel TRPC6 FSGS2 TRPML1 Mucolipidosis type IV Connexin GJA1 Oculodentodigital dysplasia Hallermann–Streiff syndrome Hypoplastic left heart syndrome GJB1 Charcot–Marie–Tooth disease X1 GJB2 Keratitis–ichthyosis–deafness syndrome Ichthyosis hystrix Bart–Pumphrey syndrome Vohwinkel syndrome ) GJB3 / GJB4 Erythrokeratodermia variabilis Progressive symmetric erythrokeratodermia GJB6 Clouston's hidrotic ectodermal dysplasia Porin AQP2 Nephrogenic diabetes insipidus 2 See also: ion channels v t e Lysosomal storage diseases : Inborn errors of lipid metabolism ( Lipid storage disorders ) Sphingolipidoses (to ceramide ) From ganglioside ( gangliosidoses ) Ganglioside : GM1 gangliosidoses GM2 gangliosidoses ( Sandhoff disease Tay–Sachs disease AB variant ) From globoside Globotriaosylceramide : Fabry's disease From sphingomyelin Sphingomyelin : phospholipid: Niemann–Pick disease ( SMPD1-associated type C ) Glucocerebroside : Gaucher's disease From sulfatide ( sulfatidoses leukodystrophy ) Sulfatide : Metachromatic leukodystrophy Multiple sulfatase deficiency Galactocerebroside : Krabbe disease To sphingosine Ceramide : Farber disease NCL Infantile Jansky–Bielschowsky disease Batten disease Other Cerebrotendineous xanthomatosis Cholesteryl ester storage disease ( Lysosomal acid lipase deficiency / Wolman disease ) Sea-blue histiocytosis
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White Dot Syndromes
Wikipedia
White dot syndromes are inflammatory diseases characterized by the presence of white dots on the fundus , the interior surface of the eye. [1] The majority of individuals affected with white dot syndromes are younger than fifty years of age. ... Some suggest a genetic predisposition to the disease, while others postulate an abnormal immune response to a virus. [2] Birdshot choroidopathy [ edit ] Main article: Birdshot chorioretinopathy Multiple evanescent white dot syndrome [ edit ] Main article: Multiple evanescent white dot syndrome Multiple evanescent white dot syndrome (MEWDS) occurs mostly in females. ... These diseases are not white dot syndromes, but have much more defined etiology. ... The white dot syndromes. American Journal of Ophthalmology. 2004;137(3):538-50. ^ a b Forrester JV, IOIS, Okada AA, BenEzra D. ... Are acute zonal occult outer retinopathy and the white spot syndromes (AZOOR complex) specific autoimmune diseases?
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Paraneoplastic Syndromes Of The Nervous System
Mayo_clinic
It can cause rapid, irregular eye movements (opsoclonus) and involuntary, chaotic muscle jerks (myoclonus) in your limbs and trunk. Stiff person syndrome. Previously called stiff man syndrome, this syndrome is characterized by progressive, severe muscle stiffness or rigidity, mainly affecting your spine and legs. ... Myelopathy. This term refers to a syndrome of injury limited to the spinal cord. ... If the level of injury includes your neck, you can have severe disability affecting all four limbs. Lambert-Eaton myasthenic syndrome. This is a syndrome caused by disrupted communication between nerves and muscles. ... When it occurs as a paraneoplastic syndrome, Lambert-Eaton myasthenic syndrome is typically associated with lung cancer. ... Depending on the type of neurological syndrome and symptoms, other medications may include: Anti-seizure medications, which may help control seizures associated with syndromes that cause electrical instability in the brain.
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Fregoli Delusion
Wikipedia
There are various forms of DMS, such as the syndrome of subjective doubles , intermetamorphosis , Capgras syndrome and Fregoli syndrome. ... The most common syndromes are Capgras and Fregoli. Capgras syndrome is the delusional belief that a friend, family member, etc., has been replaced by a twin impostor. ... Coexistence of Capgras and Fregoli [ edit ] Delusional misidentification syndromes (DMSs) are four types of syndromes: the syndrome of subjective doubles , the syndrome of intermetamorphosis , Fregoli delusion and Capgras syndrome . Of the four, Fregoli syndrome is the least frequent, followed by Capgras. ... PMID 7893241 . ^ https://www.pharmatutor.org/articles/fregoli-syndrome ^ Stewart JT (January 2008). "Frégoli syndrome associated with levodopa treatment".
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Hypogammaglobulinemia
Wikipedia
Some primary immune deficiencies include ataxia-telangiectasia (A-T), autosomal recessive agammaglobulinemia (ARA), common variable immunodeficiency (CVID), hyper-IgM syndromes , IgG subclass deficiency, isolated non-IgG immunoglobulin deficiencies, severe combined immunodeficiency (SCID), specific antibody deficiency (SAD), Wiskott-Aldrich syndrome , or x-linked agammaglobulinemia. ... Both daughters fulfilled all of the clinical criteria for WHIM syndrome, while WHIM-09 did not. She reported that she had had many serious infections from childhood until age 38 but had had none in the past 20 years. She has fulfilled none of the criteria for WHIM syndrome except for mild hypogammaglobulinemia since then. WHIM-09 was the first patient ever described with myelokathexis, the "M" in WHIM syndrome, and her parents and siblings showed no sign of the syndrome. ... External links [ edit ] Classification D ICD - 10 : D80.0 - D80.1 ICD - 9-CM : 279.00 MeSH : D000361 DiseasesDB : 6426 External resources MedlinePlus : 001307 eMedicine : med/1120 ped/54 Patient UK : Hypogammaglobulinemia v t e Lymphoid and complement disorders causing immunodeficiency Primary Antibody / humoral ( B ) Hypogammaglobulinemia X-linked agammaglobulinemia Transient hypogammaglobulinemia of infancy Dysgammaglobulinemia IgA deficiency IgG deficiency IgM deficiency Hyper IgM syndrome ( 1 2 3 4 5 ) Wiskott–Aldrich syndrome Hyper-IgE syndrome Other Common variable immunodeficiency ICF syndrome T cell deficiency ( T ) thymic hypoplasia : hypoparathyroid ( Di George's syndrome ) euparathyroid ( Nezelof syndrome Ataxia–telangiectasia ) peripheral: Purine nucleoside phosphorylase deficiency Hyper IgM syndrome ( 1 ) Severe combined (B+T) x-linked: X-SCID autosomal: Adenosine deaminase deficiency Omenn syndrome ZAP70 deficiency Bare lymphocyte syndrome Acquired HIV/AIDS Leukopenia : Lymphocytopenia Idiopathic CD4+ lymphocytopenia Complement deficiency C1-inhibitor ( Angioedema / Hereditary angioedema ) Complement 2 deficiency / Complement 4 deficiency MBL deficiency Properdin deficiency Complement 3 deficiency Terminal complement pathway deficiency Paroxysmal nocturnal hemoglobinuria Complement receptor deficiency v t e Disorders of globin and globulin proteins Globin Hemoglobinopathy Thalassemia alpha beta delta Sickle-cell disease trait HPFH Globulin IGHM : AGM1 IGLL1 : AGM2 Serpin Serpinopathy : Alpha-1 antitrypsin deficiency Antithrombin III deficiency Hereditary angioedema FENIB See also globular proteins globins antibodies serpins 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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Gonadal Dysgenesis
Wikipedia
You can help by adding to it . ( August 2017 ) History [ edit ] Turner syndrome was first described independently by Otto Ulrich in 1930 and Henry Turner in 1938. [23] 46,XX pure gonadal dysgenesis was first reported in 1960. [23] 46,XY pure gonadal dysgenesis, also known as Swyer syndrome, was first described by Gim Swyer in 1955. [23] See also [ edit ] (DoDI) 6130.03, 2018, section 5, 13f and 14m Ovotestis 46 XX References [ edit ] ^ Carreau S, Lejeune H (2001). ... "Dysgerminoma in a case of 46, XY pure gonadal dysgenesis (Swyer Syndrome): a case report" . Diagnostic Pathology . 6 (84): 84. doi : 10.1186/1746-1596-6-84 . ... "Turner Syndrome". Pediatric Endocrinology (4th ed.). pp. 664–696. ISBN 9780323315258 . ^ a b Elsheikh M, Dunger D, Conway G, Wass J (2002). "Turners Syndrome in adulthood" . Endocrine Reviews . 23 (1): 120–140. doi : 10.1210/edrv.23.1.0457 . ... External links [ edit ] Classification D ICD - 10 : Q99.1 ICD - 9-CM : 758.6 MeSH : D006059 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 , 22NR5A1, NUP107, FMR1, SRY, WT1, MAP3K1, SOX9, NR0B1, SPIDR, ZFPM2, TWNK, WWOX, DHH, PSMC3IP, MRPS22, DMRT3, RXYLT1, BMP15, BCL10, RNF113A, TOE1, MPLKIP, VAMP7, STK11, FSHR, GTF2E2, ERCC2, ERCC3, FGFR3, GATA4, GTF2H5, HSD17B4, KIT, DMRT1, AMH, HLA-A, PPP2R3C, AR, CD38, CYP21A2, DHX37, LHX9, SHBG, FANCA, PPIG, FGF9, SOX8, SSRP1, GART, DMRT2, PAICS, MAMLD1, SRD5A2
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Klippel–feil Syndrome
Wikipedia
Congenital condition characterised by fusion of two or more vertebrae in the neck Klippel-Feil syndrome Other names Congenital dystrophia brevicollis, cervical vertebral fusion syndrome Woman with Klippel–Feil syndrome Pronunciation / ˌ k l ɪ . p ə l ˈ f aɪ l / Specialty Paediatrics , orthopaedics Symptoms Cervical spine fusion, scoliosis , spina bifida , heart defect , respiratory problems, other syndromic features Usual onset Congenital Causes Genetic mutations Risk factors Family history Prognosis Shorter life expectancy in some cases Frequency 1 in 40,000 to 42,000 births, females more affected than males Klippel–Feil syndrome ( KFS ), also known as cervical vertebral fusion syndrome , is a rare congenital condition characterized by the abnormal fusion of any two of the seven bones in the neck ( cervical vertebrae ). [1] : 578 It results in a limited ability to move the neck and shortness of the neck, resulting in the appearance of a low hairline . [2] The syndrome is difficult to diagnose, as it occurs in a group of patients affected with many different abnormalities who can only be unified by the presence of fused or segmental cervical vertebrae. [3] KFS is not always genetic and not always known the day of the birth. ... ISBN 0-7216-2921-0 . ^ a b "Klippel-Feil syndrome" . Genetics Home Reference . U.S. ... Joseph: André Feil's thesis on the origin of the Klippel-Feil syndrome and a social transformation of medicine" . ... S2CID 5276691 . ^ Online Mendelian Inheritance in Man (OMIM): Klippel-Feil Syndrome 1, Autosomal Dominant; KFS1 - 118100 ^ "Segmentation syndrome 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" . ^ Feil A. ... "Audiological abnormalities in the Klippel-Feil syndrome" . Arch. Dis. Child . 79 (4): 352–5. doi : 10.1136/adc.79.4.352 .
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Xp22.3 Microdeletion Syndrome
Orphanet
Xp22.3 microdeletion syndrome is a microdeletion syndrome resulting from a partial deletion of the chromosome X. Phenotype is highly variable (depending on length of deletion), but is mainly characterized by X linked ichthyosis, mild-moderate intellectual deficit, Kallmann syndrome, short stature, chondrodysplasia punctata and ocular albinism.
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Tarsal-Carpal Coalition Syndrome
Medlineplus
Tarsal-carpal coalition syndrome is a rare, inherited bone disorder that affects primarily the hands and feet. Several individual bones make up each wrist (carpal bones) and ankle (tarsal bones). In tarsal-carpal coalition syndrome, the carpal bones fuse together, as do the tarsal bones, which causes stiffness and immobility of the hands and feet. ... Less common features of tarsal-carpal coalition syndrome include short stature or the development of hearing loss. Frequency This condition is very rare; however, the exact prevalence is unknown. Causes Tarsal-carpal coalition syndrome is caused by mutations in the NOG gene, which provides instructions for making a protein called noggin. ... NOG gene mutations that cause tarsal-carpal coalition syndrome reduce the amount of functional noggin protein.
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Nephrotic Syndrome, Type 16
Omim
A number sign (#) is used with this entry because of evidence that nephrotic syndrome type 16 (NPHS16) is caused by homozygous mutation in the KANK2 gene (614610) on chromosome 19p13. For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 (256300). Clinical Features Gee et al. (2015) reported 3 children from 2 unrelated families with onset of nephrotic syndrome between 2 and 3 years of age. Two sibs, born of consanguineous Arab parents (family A982), had steroid-sensitive nephrotic syndrome, whereas the unrelated patient of European descent (family A1751) had steroid-dependent nephrotic syndrome and hematuria. ... The mutation in the unrelated patient (patient A1751-21) was found by direct sequencing of the KANK2 gene in over 1,100 patients with nephrotic syndrome; this was the only patient found to have a KANK2 mutation in that cohort. Injection of either mutation failed to rescue the nephrotic syndrome phenotype in zebrafish with morpholino knockdown of the kank2 gene, suggesting that the mutations result in a loss of function.
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Adiposogenital Dystrophy
Wikipedia
Adiposogenital dystrophy Other names Babinski-Fröhlich syndrome [1] [2] [3] [4] (commonly associated with slipped capital femoral epiphysis ), Froelich's syndrome , Frölich's Syndrome , Hypothalamic Infantilism-Obesity , Launois-Cleret Syndrome , Sexual Infantilism Specialty Endocrinology Adiposogenital dystrophy is a condition that may be caused by tertiary hypogonadism originating from decreased levels in GnRH. ... Additional tests are needed before a definite diagnosis of Froehlich syndrome may be made. [5] Treatment [ edit ] Pituitary extracts may be administered to replace the missing hormones (hormonal replacement therapy) in patients with Froehlich syndrome. ... Appetite may be very difficult to manage, although weight control depends on this. [ citation needed ] References [ edit ] ^ synd/1792 at Who Named It? - Babinski-Fröchlich syndrome ^ J. F. Babinski. Tumeur du corps pituitaire sans acromégalie et avec arrêt de développement des organes génitaux. ... "[The adiposogenital distrophy or Frohlich syndrome and the beginning of the concept of neuroendocrinology]". Gac Med Mex (in Spanish). 143 (4): 349–50. PMID 17969845 . ^ "Froelich Syndrome" . External links [ edit ] Classification D ICD - 10 : E23.6 ICD - 9-CM : 253.8 DiseasesDB : 29318 v t e Hypothalamic disease Gonadotropin Kallmann syndrome Adiposogenital dystrophy CRH Tertiary adrenal insufficiency Vasopressin Neurogenic diabetes insipidus General Hypothalamic hamartoma This article about an endocrine, nutritional, or metabolic disease is a stub .