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Noonan Syndrome With Multiple Lentigines
Medlineplus
Noonan syndrome with multiple lentigines (formerly called LEOPARD syndrome) is a condition that affects many areas of the body. As the condition name suggests, Noonan syndrome with multiple lentigines is very similar to a condition called Noonan syndrome, and it can be difficult to tell the two disorders apart in early childhood. ... People with Noonan syndrome with multiple lentigines can have a distinctive facial appearance. ... Noonan syndrome with multiple lentigines is one of a group of related conditions collectively known as RASopathies. These conditions all have similar signs and symptoms and are caused by changes in the same cell signaling pathway. In addition to Noonan syndrome with multiple lentigines, the RASopathies include Noonan syndrome, cardiofaciocutaneous syndrome, Costello syndrome, neurofibromatosis type 1, and Legius syndrome.
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Potassium-Aggravated Myotonia
Wikipedia
External links [ edit ] Classification D ICD - 10 : G71.1 OMIM : 608390 MeSH : C538353 External resources Orphanet : 612 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
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Rosselli–gulienetti Syndrome
Wikipedia
Rosselli–Gulienetti syndrome Other names Zlotogora–Ogur syndrome This condition is inherited in an autosomal recessive manner [1] Rosselli–Gulienetti syndrome , [2] also known as Zlotogora–Ogur syndrome [3] and Bowen–Armstrong syndrome , [4] is a type of congenital ectodermal dysplasia syndrome . The syndrome is relatively rare [5] and has only been described in a few cases. ... Additional symptoms may include fused eyelids , absent nails, delayed bone growth and dry skin. It is believed that this syndrome follows an autosomal dominant pattern of inheritance with incomplete penetrance , [5] and caused by a mutation affecting the TP63 gene. [6] It has been suggested that this syndrome, AEC syndrome and Rapp–Hodgkin syndrome may be variations of the same disease. [7] Cause [ edit ] This section is empty. ... PMID 14494246 . ^ ORPHANET - About rare diseases - About orphan drugs ^ a b Bowen-Armstrong Syndrome ^ a b Bowen, P; Armstrong HB (1976). ... PMID 14684701 . ^ Zenteno JC, Venegas C, Kofman-Alfaro S (1999). "Evidence that AEC syndrome and Bowen--Armstrong syndrome are variable expressions of the same disease".
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Piebaldism
Wikipedia
In some cases, piebaldism occurs together with severe developmental problems, as in Waardenburg syndrome and Hirschsprung's disease . It has been documented to occur in all races. ... The National Organization of Albinism and Hypopigmentation, as well as organizations such as Under the Same Sun , work to promote awareness of all forms of cutaneous variation and their medical implications, and to highlight human rights issues, especially the plight of albinos subject to extreme persecution in parts of Africa. [7] Etymology [ edit ] "Pie" is a word for multi-colored and "bald" is related to a root word for "skin." [ citation needed ] See also [ edit ] Albinism Amelanism Dyschromia Erythrism PAX3 Heterochromia iridum Leucism Melanism Piebald Poliosis Skewbald Vitiligo Waardenburg syndrome Xanthochromism References [ edit ] ^ "Piebaldism | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" . rarediseases.info.nih.gov . ... McKusick, Mendelian Inheritance in Man: A Catalog of Human Genes and Genetic Disorders , Volume 1 (Johns Hopkins University Press, 1428-1429) ^ Spritz, RA (1997). "Piebaldism, Waardenburg syndrome, and related disorders of melanocyte development". ... External links [ edit ] Classification D ICD - 10 : E70.3 ( ILDS E70.350) ICD - 9-CM : 709.09 OMIM : 172800 MeSH : D016116 DiseasesDB : 29295 External resources eMedicine : derm/689 Orphanet : 2884 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 v t e Pigmentation disorders / Dyschromia Hypo- / leucism Loss of melanocytes Vitiligo Quadrichrome vitiligo Vitiligo ponctué Syndromic Alezzandrini syndrome Vogt–Koyanagi–Harada syndrome Melanocyte development Piebaldism Waardenburg syndrome Tietz syndrome Loss of melanin / amelanism Albinism Oculocutaneous albinism Ocular albinism Melanosome transfer Hermansky–Pudlak syndrome Chédiak–Higashi syndrome Griscelli syndrome Elejalde syndrome Griscelli syndrome type 2 Griscelli syndrome type 3 Other Cross syndrome ABCD syndrome Albinism–deafness syndrome Idiopathic guttate hypomelanosis Phylloid hypomelanosis Progressive macular hypomelanosis Leukoderma w/o hypomelanosis Vasospastic macule Woronoff's ring Nevus anemicus Ungrouped Nevus depigmentosus Postinflammatory hypopigmentation Pityriasis alba Vagabond's leukomelanoderma Yemenite deaf-blind hypopigmentation syndrome Wende–Bauckus syndrome Hyper- Melanin / Melanosis / Melanism Reticulated Dermatopathia pigmentosa reticularis Pigmentatio reticularis faciei et colli Reticulate acropigmentation of Kitamura Reticular pigmented anomaly of the flexures Naegeli–Franceschetti–Jadassohn syndrome Dyskeratosis congenita X-linked reticulate pigmentary disorder Galli–Galli disease Revesz syndrome Diffuse/ circumscribed Lentigo / Lentiginosis : Lentigo simplex Liver spot Centrofacial lentiginosis Generalized lentiginosis Inherited patterned lentiginosis in black persons Ink spot lentigo Lentigo maligna Mucosal lentigines Partial unilateral lentiginosis PUVA lentigines Melasma Erythema dyschromicum perstans Lichen planus pigmentosus Café au lait spot Poikiloderma ( Poikiloderma of Civatte Poikiloderma vasculare atrophicans ) Riehl melanosis Linear Incontinentia pigmenti Scratch dermatitis Shiitake mushroom dermatitis Other/ ungrouped Acanthosis nigricans Freckle Familial progressive hyperpigmentation Pallister–Killian syndrome Periorbital hyperpigmentation Photoleukomelanodermatitis of Kobori Postinflammatory hyperpigmentation Transient neonatal pustular melanosis Other pigments Iron Hemochromatosis Iron metallic discoloration Pigmented purpuric dermatosis Schamberg disease Majocchi's disease Gougerot–Blum syndrome Doucas and Kapetanakis pigmented purpura / Eczematid-like purpura of Doucas and Kapetanakis Lichen aureus Angioma serpiginosum Hemosiderin hyperpigmentation Other metals Argyria Chrysiasis Arsenic poisoning Lead poisoning Titanium metallic discoloration Other Carotenosis Tar melanosis Dyschromia Dyschromatosis symmetrica hereditaria Dyschromatosis universalis hereditaria See also Skin color Skin whitening Tanning Sunless Tattoo removal Depigmentation
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Gardner's Syndrome
Wikipedia
Gardner's syndrome Other names Familial colorectal polyposis, Familial polyposis of the colon Specialty Gastroenterology , oncology , medical genetics Gardner's syndrome (also known as Gardner syndrome , familial polyposis of the colon , [1] or familial colorectal polyposis [2] ) is a subtype of familial adenomatous polyposis (FAP). ... There is a movement toward no longer using the terms Gardner Syndrome or Turcot Syndrome since both are part of the FAP spectrum. Gardner syndrome and Turcot syndrome are regarded primarily for historical interest. [9] Genetics [ edit ] Gardner syndrome has an autosomal dominant pattern of inheritance. Gardner syndrome is inherited in an autosomal dominant manner. [3] Typically, one parent has Gardner syndrome. ... The incidence of the syndrome is 1:14,025 with an equal sex distribution.
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Duane Syndrome
Gene_reviews
Other individuals with Duane syndrome fall into well-defined syndromic diagnoses. However, many individuals with Duane syndrome have non-ocular findings that do not fit a known syndrome; these individuals are included as part of the discussion of nonsyndromic Duane syndrome. ... Most affected individuals with Duane syndrome have isolated Duane syndrome (i.e., they do not have other detected congenital anomalies). ... Other Anomalies Most affected individuals with Duane syndrome have isolated Duane syndrome without other congenital anomalies. ... Duane syndrome has been described in one individual with 48,XXYY syndrome and another with atypical Silver-Russell syndrome, Duane syndrome, and maternal uniparental disomy of chromosome 7. 4.
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Schaaf-Yang Syndrome
Gard
Schaaf-Yang syndrome is a genetic condition that affects many parts of the body and is similar to Prader-Willi syndrome . Infants with this syndrome can have low muscle tone (hypotonia), feeding difficulties, developmental delay, intellectual disability, and autism spectrum disorder. They also typically have joint contractures, affecting the finger joints and sometimes the knees and elbows. This syndrome does not usually cause the high appetite seen in people with Prader-Willi syndrome. Schaaf-Yang syndrome is caused by a mutation in the MAGEL2 gene on chromosome 15 . This syndrome is related to Prader-Willi syndrome because if MAGEL2 and several additional genes on chromosome 15 are missing or inactivated, then a person will develop Prader-Willi syndrome.
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Quadrichrome Vitiligo
Wikipedia
Quadrichrome vitiligo Specialty Dermatology Quadrichrome vitiligo is another variant of vitiligo , a cutaneous condition, which reflects the presence of a fourth color (dark brown) at sites of perifollicular repigmentation. [1] See also [ edit ] ABCD syndrome List of cutaneous conditions Trichrome vitiligo References [ edit ] ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). ... ISBN 978-1-4160-2999-1 . v t e Pigmentation disorders / Dyschromia Hypo- / leucism Loss of melanocytes Vitiligo Quadrichrome vitiligo Vitiligo ponctué Syndromic Alezzandrini syndrome Vogt–Koyanagi–Harada syndrome Melanocyte development Piebaldism Waardenburg syndrome Tietz syndrome Loss of melanin / amelanism Albinism Oculocutaneous albinism Ocular albinism Melanosome transfer Hermansky–Pudlak syndrome Chédiak–Higashi syndrome Griscelli syndrome Elejalde syndrome Griscelli syndrome type 2 Griscelli syndrome type 3 Other Cross syndrome ABCD syndrome Albinism–deafness syndrome Idiopathic guttate hypomelanosis Phylloid hypomelanosis Progressive macular hypomelanosis Leukoderma w/o hypomelanosis Vasospastic macule Woronoff's ring Nevus anemicus Ungrouped Nevus depigmentosus Postinflammatory hypopigmentation Pityriasis alba Vagabond's leukomelanoderma Yemenite deaf-blind hypopigmentation syndrome Wende–Bauckus syndrome Hyper- Melanin / Melanosis / Melanism Reticulated Dermatopathia pigmentosa reticularis Pigmentatio reticularis faciei et colli Reticulate acropigmentation of Kitamura Reticular pigmented anomaly of the flexures Naegeli–Franceschetti–Jadassohn syndrome Dyskeratosis congenita X-linked reticulate pigmentary disorder Galli–Galli disease Revesz syndrome Diffuse/ circumscribed Lentigo / Lentiginosis : Lentigo simplex Liver spot Centrofacial lentiginosis Generalized lentiginosis Inherited patterned lentiginosis in black persons Ink spot lentigo Lentigo maligna Mucosal lentigines Partial unilateral lentiginosis PUVA lentigines Melasma Erythema dyschromicum perstans Lichen planus pigmentosus Café au lait spot Poikiloderma ( Poikiloderma of Civatte Poikiloderma vasculare atrophicans ) Riehl melanosis Linear Incontinentia pigmenti Scratch dermatitis Shiitake mushroom dermatitis Other/ ungrouped Acanthosis nigricans Freckle Familial progressive hyperpigmentation Pallister–Killian syndrome Periorbital hyperpigmentation Photoleukomelanodermatitis of Kobori Postinflammatory hyperpigmentation Transient neonatal pustular melanosis Other pigments Iron Hemochromatosis Iron metallic discoloration Pigmented purpuric dermatosis Schamberg disease Majocchi's disease Gougerot–Blum syndrome Doucas and Kapetanakis pigmented purpura / Eczematid-like purpura of Doucas and Kapetanakis Lichen aureus Angioma serpiginosum Hemosiderin hyperpigmentation Other metals Argyria Chrysiasis Arsenic poisoning Lead poisoning Titanium metallic discoloration Other Carotenosis Tar melanosis Dyschromia Dyschromatosis symmetrica hereditaria Dyschromatosis universalis hereditaria See also Skin color Skin whitening Tanning Sunless Tattoo removal Depigmentation This cutaneous condition article is a stub .
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Bart Syndrome
Wikipedia
Bart syndrome Specialty Dermatology Bart syndrome is a genetic disorder characterized by the association of congenital localized absence of skin , epidermolysis bullosa , lesions of the mouth mucosa , and dystrophic nails . [1] [2] Contents 1 Genetics 2 Diagnosis 3 See also 4 References 5 External links Genetics [ edit ] The disease is inherited by autosomal dominant transmission with complete penetrance but variable expression . ... You can help by adding to it . ( June 2018 ) See also [ edit ] List of cutaneous conditions Bart-Pumphrey syndrome References [ edit ] ^ Butler DF, Berger TG, James WD, Smith TL, Stanely JR, Rodman OG (1986). "Bart's syndrome: microscopic, ultrastructural, and immunofluorescent mapping features". ... ISBN 978-0-7216-2921-6 . ^ Christiano AM, Bart BJ, Epstein EH Jr, Uitto J (1996). "Genetic basis of Bart's syndrome: a glycine substitution mutation in the type VII collagen gene" . ... External links [ edit ] Classification D OMIM : 132000 MeSH : C562638 v t e Diseases of collagen , laminin and other scleroproteins Collagen disease COL1 : Osteogenesis imperfecta Ehlers–Danlos syndrome, types 1, 2, 7 COL2 : Hypochondrogenesis Achondrogenesis type 2 Stickler syndrome Marshall syndrome Spondyloepiphyseal dysplasia congenita Spondyloepimetaphyseal dysplasia, Strudwick type Kniest dysplasia (see also C2/11 ) COL3 : Ehlers–Danlos syndrome, types 3 & 4 Sack–Barabas syndrome COL4 : Alport syndrome COL5 : Ehlers–Danlos syndrome, types 1 & 2 COL6 : Bethlem myopathy Ullrich congenital muscular dystrophy COL7 : Epidermolysis bullosa dystrophica Recessive dystrophic epidermolysis bullosa Bart syndrome Transient bullous dermolysis of the newborn COL8: Fuchs' dystrophy 1 COL9: Multiple epiphyseal dysplasia 2, 3, 6 COL10: Schmid metaphyseal chondrodysplasia COL11: Weissenbacher–Zweymüller syndrome Otospondylomegaepiphyseal dysplasia (see also C2/11 ) COL17: Bullous pemphigoid COL18: Knobloch syndrome Laminin Junctional epidermolysis bullosa Laryngoonychocutaneous syndrome Other Congenital stromal corneal dystrophy Raine syndrome Urbach–Wiethe disease TECTA DFNA8/12, DFNB21 see also fibrous proteins
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Trisomy 9
Wikipedia
A study of five cases showed an association with Coffin–Siris syndrome , as well as a wide gap between the first and second toes in all five, while three had brain malformations including dilated ventricles with hypogenesis of the corpus callosum and Dandy-Walker malformation . [2] Diagnosis [ edit ] Trisomy 9 can be detected prenatally with chorionic villus sampling and cordocentesis , and can be suggested by obstetric ultrasonography . ... Chromosome 9, Trisomy Mosaic 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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Knobloch Syndrome
Wikipedia
Knobloch syndrome Other names Myopia retinal detachment encephalocele [1] Knobloch syndrome is a rare genetic disorder presenting severe eyesight problems and often a defect in the skull . ... "Mapping of a novel type III variant of Knobloch syndrome (KNO3) to chromosome 17q11.2". ... S2CID 28946327 . ^ "OMIM Entry - # 267750 - Knobloch syndrome 1; KNO1" . www.omim.org . Retrieved 24 February 2018 . ^ Aldahmesh, M. ... "Identification of ADAMTS18 as a gene mutated in Knobloch syndrome". J. Med. Genet . 48 (9): 597–601. doi : 10.1136/jmedgenet-2011-100306 . ... ISBN 978-1-4160-6257-8 . v t e Diseases of collagen , laminin and other scleroproteins Collagen disease COL1 : Osteogenesis imperfecta Ehlers–Danlos syndrome, types 1, 2, 7 COL2 : Hypochondrogenesis Achondrogenesis type 2 Stickler syndrome Marshall syndrome Spondyloepiphyseal dysplasia congenita Spondyloepimetaphyseal dysplasia, Strudwick type Kniest dysplasia (see also C2/11 ) COL3 : Ehlers–Danlos syndrome, types 3 & 4 Sack–Barabas syndrome COL4 : Alport syndrome COL5 : Ehlers–Danlos syndrome, types 1 & 2 COL6 : Bethlem myopathy Ullrich congenital muscular dystrophy COL7 : Epidermolysis bullosa dystrophica Recessive dystrophic epidermolysis bullosa Bart syndrome Transient bullous dermolysis of the newborn COL8: Fuchs' dystrophy 1 COL9: Multiple epiphyseal dysplasia 2, 3, 6 COL10: Schmid metaphyseal chondrodysplasia COL11: Weissenbacher–Zweymüller syndrome Otospondylomegaepiphyseal dysplasia (see also C2/11 ) COL17: Bullous pemphigoid COL18: Knobloch syndrome Laminin Junctional epidermolysis bullosa Laryngoonychocutaneous syndrome Other Congenital stromal corneal dystrophy Raine syndrome Urbach–Wiethe disease TECTA DFNA8/12, DFNB21 see also fibrous proteins v t e Congenital malformations and deformations of eyes Adnexa Eyelid Ptosis Ectropion Entropion Distichia Blepharophimosis Ablepharon Marcus Gunn phenomenon Lacrimal apparatus Congenital lacrimal duct obstruction Globe Entire eye Anophthalmia ( Cystic eyeball , Cryptophthalmos ) Microphthalmia Lens Ectopia lentis Aphakia Iris Aniridia Anterior segment Axenfeld–Rieger syndrome Cornea Keratoglobus Megalocornea Other Buphthalmos Coloboma ( Coloboma of optic nerve ) Hydrophthalmos Norrie disease
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Guillain-Barré Syndrome
Medlineplus
Guillain-Barré syndrome is an autoimmune disorder that affects the nerves. ... The most common type of Guillain-Barré syndrome is acute inflammatory demyelinating polyradiculoneuropathy (AIDP). ... People with this condition can have other signs and symptoms common in Guillain-Barré syndrome, such as muscle weakness. Guillain-Barré syndrome occurs in people of all ages. ... Frequency The prevalence of Guillain-Barré syndrome is estimated to be 6 to 40 cases per 1 million people. The occurrence of the different types of Guillain-Barré syndrome varies across regions. AIDP is the most common type in North America and Europe, accounting for approximately 90 percent of cases of Guillain-Barré syndrome in those regions.NFASC, CNTN1, PMP22, LAMC2, MPZ, CSF2, IL6, CD86, CD59, TTR, CNTN2, AIF1, CLDN5, PTGS2, HLA-DRB1, CNTNAP1, RNMT, RBM45, IFNG, MBP, CD80, EZR, P2RY1, CSH1, PRF1, CNTF, PXMP2, RDX, CLEC11A, TAC1, ERCC8, TRBV20OR9-2, CD69, TNFRSF1A, CD68, FN1, GBE1, CST7, CD28, CES2, SH2D2A, ADIPOQ, PDLIM5, TNFSF13B, LYVE1, CD1E, DBNL, CASP1, GLDN, OCLN, NGF, NEFL, COX2, MSR1, GDNF, GJB1, HLA-A, HLA-DQB1, EDN1, HPRT1, HSPA9, IFNB1, DSP, IGHG3, IL2RA, CTLA4, IL10, CXCL10, ISG20, ITGA4, CST3, LIF, MAG, ALB, MLLT3, MMP2, MMP3, MMP7, MMP9, CSH2, MSN, MTCO2P12
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Cenani–lenz Syndactylism
Wikipedia
Cenani–Lenz syndactylism Other names Syndactyly type 7 Specialty Medical genetics Cenani–Lenz syndactylism , also known as Cenani–Lenz syndrome or Cenani–syndactylism , [1] [2] is an autosomal recessive congenital malformation syndrome [3] [4] involving both upper and lower extremities. ... "Mild facial dysmorphism and quasidominant inheritance in Cenani-Lenz syndrome". Clin. Dysmorphol . 12 (2): 77–83. doi : 10.1097/00019605-200304000-00001 . ... S2CID 25462579 . ^ Online Mendelian Inheritance in Man (OMIM): 212780 ^ Nezarati MM, McLeod DR (2002). "Cenani-Lenz syndrome: report of a new case and review of the literature". ... PMID 15710123 . ^ Bacchelli C, Goodman FR, Scambler PJ, Winter RM (March 2001). "Cenani-Lenz syndrome with renal hypoplasia is not linked to FORMIN or GREMLIN". ... External links [ edit ] Classification D ICD - 10 : Q78.4 OMIM : 212780 MeSH : C538150 DiseasesDB : 32523 External resources Orphanet : 3258 v t e Congenital malformations and deformations of musculoskeletal system / musculoskeletal abnormality Appendicular limb / dysmelia Arms clavicle / shoulder Cleidocranial dysostosis Sprengel's deformity Wallis–Zieff–Goldblatt syndrome hand deformity Madelung's deformity Clinodactyly Oligodactyly Polydactyly Leg hip Hip dislocation / Hip dysplasia Upington disease Coxa valga Coxa vara knee Genu valgum Genu varum Genu recurvatum Discoid meniscus Congenital patellar dislocation Congenital knee dislocation foot deformity varus Club foot Pigeon toe valgus Flat feet Pes cavus Rocker bottom foot Hammer toe Either / both fingers and toes Polydactyly / Syndactyly Webbed toes Arachnodactyly Cenani–Lenz syndactylism Ectrodactyly Brachydactyly Stub thumb reduction deficits / limb Acheiropodia Ectromelia Phocomelia Amelia Hemimelia multiple joints Arthrogryposis Larsen syndrome RAPADILINO syndrome Axial Skull and face Craniosynostosis Scaphocephaly Oxycephaly Trigonocephaly Craniofacial dysostosis Crouzon syndrome Hypertelorism Hallermann–Streiff syndrome Treacher Collins syndrome other Macrocephaly Platybasia Craniodiaphyseal dysplasia Dolichocephaly Greig cephalopolysyndactyly syndrome Plagiocephaly Saddle nose Vertebral column Spinal curvature Scoliosis Klippel–Feil syndrome Spondylolisthesis Spina bifida occulta Sacralization Thoracic skeleton ribs : Cervical Bifid sternum : Pectus excavatum Pectus carinatum 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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1q21.1 Duplication Syndrome
Wikipedia
1q21.1 duplication syndrome Other names 1q21.1 (recurrent) microduplication 1q21.1 duplication syndrome is inherited in an autosomal dominant manner Specialty Medical genetics 1q21.1 duplication syndrome or 1q21.1 (recurrent) microduplication is a rare aberration of chromosome 1 . ... While there are two or three copies of a similar part of the DNA on a particular spot with the duplication syndrome, there is a part of the DNA missing with the deletion syndrome on the same spot. ... Sometimes adults have mild problems with the syndrome. To find out whether either of the parents carries the syndrome, both parents have to be tested. ... If the syndrome was found in the family, chances on a second child with the syndrome are 50%, because the syndrome is autosomal dominant . ... External links [ edit ] Classification D OMIM : 612475 MeSH : C567290 1q21.1 microduplications DECIPHER database entry for 1q21.1 duplication syndrome 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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Xxyy Syndrome
Wikipedia
Extra X and Y chromosome in males XXYY syndrome Other names 48,XXYY Klinefelter syndrome [1] XXYY syndrome XXYY syndrome is a sex chromosome anomaly in which males have an extra X and Y chromosome. ... This is why XXYY syndrome is sometimes written as 48,XXYY syndrome or 48,XXYY . ... Because of this, 48,XXYY syndrome was originally considered a variation of Klinefelter syndrome. ... (June 2008). "A New Look at XXYY Syndrome: Medical and Psychological Features" . ... External links [ edit ] Classification D ICD - 10 : Q98.8 External resources Orphanet : 10 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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Marshall–smith Syndrome
Wikipedia
Marshall-Smith syndrome Other names Greig's syndrome , Polysyndactyly cephalopolysyndactyly syndrome, Accelerated skeletal maturation, Marshall-Smith type, Marshall–Smith–Weaver syndrome Marshall-Smith Syndrome , discovered in 1971 (Marshall, Graham, Scott, Boner, & Smith), is characterized by unusual accelerated skeletal maturation (usually starting before birth) and symptoms like conspicuous physical characteristics, respiratory difficulties, and mental retardation. ... Osseous fragility in Marshall–Smith syndrome. Clinical Report: Osseous fragility in Marshall-Smith syndrome Ehresmann, T., Gillessen-Kaesbach G., Koenig R. (2005). ... Hoyme HE and Bull MJ: The Marshall-Smith Syndrome: Natural history beyond infancy. ... Hoyme HE and Bull MJ: The Marshall-Smith Syndrome: Natural history beyond infancy. ... De Toni E, Duillo MT, De Toni T, Cortese M, Bergamo F (Jul 1976). "[Unusual syndrome with acceleration of skeletal maturation (Marshall's syndrome). 1st case in the Italian literature]".
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Epidermal Nevus Syndrome
Wikipedia
Epidermal nevus syndrome Other names Solomon's syndrome Specialty Dermatology , medical genetics Epidermal nevus syndrome (also known as " Feuerstein and Mims syndrome ", [1] [2] and " Solomon's syndrome " [1] : 775 [3] ) is a rare disease that was first described in 1968 and consists of extensive epidermal nevi with abnormalities of the central nervous system (CNS), skeleton, skin, cardiovascular system , genitourinary system and eyes. [2] : 634 However, since the syndrome's first description, a broader concept for the " epidermal nevus " syndrome has been proposed, with at least six types being described: [1] : 776 [4] Schimmelpenning syndrome Nevus comedonicus syndrome Pigmented hairy epidermal nevus syndrome Proteus syndrome CHILD syndrome Phakomatosis pigmentokeratotica See also [ edit ] Epidermis List of cutaneous conditions References [ edit ] ^ a b c Freedberg, et al. (2003). ... ISBN 1-4160-2999-0 . ^ Happle, R. "Epidermal nevus syndrome." Semin Dermatol . 1995;14:111. External links [ edit ] Classification D ICD - 10 : Q85.8 External resources Orphanet : 35125 v t e Skin cancer of the epidermis Tumor Carcinoma BCC Forms Aberrant Cicatricial Cystic Fibroepithelioma of Pinkus Infltrative Micronodular Nodular Pigmented Polypoid Pore-like Rodent ulcer Superficial Nevoid basal cell carcinoma syndrome SCC Forms Adenoid Basaloid Clear cell Signet-ring-cell Spindle-cell Marjolin's ulcer Bowen's disease Bowenoid papulosis Erythroplasia of Queyrat Actinic keratosis Adenocarcinoma Aggressive digital papillary adenocarcinoma Extramammary Paget's disease Ungrouped Merkel cell carcinoma Microcystic adnexal carcinoma Mucinous carcinoma Primary cutaneous adenoid cystic carcinoma Verrucous carcinoma Malignant mixed tumor Benign tumors Acanthoma Forms Large cell Fissuring Clear cell Epidermolytic Melanoacanthoma Pilar sheath acanthoma Seboacanthoma Seborrheic keratosis Warty dyskeratoma Keratoacanthoma Generalized eruptive Keratoacanthoma centrifugum marginatum Multiple Solitary Wart Verruca vulgaris Verruca plana Plantar wart Periungual wart Other Epidermal nevus Syndromes Epidermal nevus syndrome Schimmelpenning syndrome Nevus comedonicus syndrome Nevus comedonicus Inflammatory linear verrucous epidermal nevus Linear verrucous epidermal nevus Pigmented hairy epidermal nevus syndrome Systematized epidermal nevus Phakomatosis pigmentokeratotica Other nevus Nevus unius lateris Patch blue nevus Unilateral palmoplantar verrucous nevus Zosteriform speckled lentiginous nevus Ungrouped Cutaneous horn This Epidermal nevi, neoplasms, cysts article is a stub .
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Dubin–johnson Syndrome
Wikipedia
Dubin–Johnson syndrome Other names Conjugated Hyperbilirubinemia [1] Bilirubin Specialty Pediatrics , hepatology Dubin–Johnson syndrome is a rare, autosomal recessive , benign disorder that causes an isolated increase of conjugated bilirubin in the serum. ... In patients with Dubin–Johnson syndrome, this ratio is inverted, with coproporphyrin I being 3–4 times higher than coproporphyrin III. ... High levels of gamma-glutamyl transferase (GGT) help in diagnosing pathologies involving biliary obstruction. [ citation needed ] Differentiation from Rotor syndrome [ edit ] Dubin–Johnson syndrome is similar to Rotor syndrome , but can be differentiated by: Rotor syndrome Dubin–Johnson syndrome Appearance of liver normal histology and appearance liver has black pigmentation Gallbladder visualization gallbladder can be visualized by oral cholecystogram gallbladder cannot be visualized Total urine coproporphyrin content high with <70% being isomer 1 normal with >80% being isomer 1 (normal urine contains more of isomer 3 than isomer 1) A test of MRP2 activity can also be done to differentiate between Dubin–Johnson syndrome and Rotor syndrome. ... Retrieved 11 April 2019 . ^ a b c Strassburg CP (2010). "Hyperbilirubinemia syndromes (Gilbert-Meulengracht, Crigler-Najjar, Dubin-Johnson, and Rotor syndrome)". ... PMID 20955959 . ^ a b c Suzanne M Carter, MS Dubin–Johnson Syndrome at eMedicine ^ Kumar, Vinay (2007).
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Autoimmune Polyendocrine Syndrome
Wikipedia
Autoimmune polyendocrine syndrome Other names Autoimmune polyglandular syndromes (APSs) The autoimmune regulator protein (from the AIRE gene, which causes autoimmune polyendocrine syndrome type 1 when non-functional) Specialty Endocrinology Types APS type1 , APS type 2 , IPEX syndrome Causes FOXP3 gene is involved in the mechanism [1] Diagnostic method Endoscopic, CT scan [2] Treatment Depends on type Autoimmune polyendocrine syndromes ( APSs ), also called polyglandular autoimmune syndromes ( PGASs ) [3] or polyendocrine autoimmune syndromes ( PASs ), are a heterogeneous group [4] of rare diseases characterized by autoimmune activity against more than one endocrine organ , although non-endocrine organs can be affected. ... Autoimmune polyendocrine syndrome type 2 , [7] an autosomal dominant syndrome due to multifactorial gene involvement resulting in adrenal insufficiency plus hypothyroidism and/or type 1 diabetes . Immunodysregulation polyendocrinopathy enteropathy X-linked syndrome (IPEX syndrome) is X-linked recessive due to mutation of the FOXP3 gene on the X chromosome. ... PMID 15141045 . ^ "Type III Polyglandular Autoimmune Syndrome: Background, Pathophysiology, Epidemiology" . 2017-05-03. ... "Autoimmune polyendocrine syndrome type 1: case report and review of literature" .AIRE, FOXP3, GPI, F2, APOH, F3, NUDT11, HLA-DRB1, TLR4, LMNA, NUDT10, MTOR, ANXA5, LRP8, RBM45, SERPINE1, F5, TNF, SH2B2, F2R, CPB2, HLA-DQA1, NOD2, TLR7, KLK3, TFPI, MPO, MIR19B1, VCAM1, VIM, MTHFR, TLR2, SELPLG, NR1I2, BLK, MIR20A, PLG, ANXA2, PWAR1, F2RL1, CD36, CXCL8, STAT4, MARK2, BANK1, SLC52A1, SLC52A2, IL17A, H3C1, CLIP2, H3C4, MOK, SLC20A1, TSHR, RELA, ROS1, TERC, SYT1, S100A10, CCL2, SELE, H3C6, STAT1, H3C3, ADH1A, H3C11, H3C8, ANXA8, LINC01193, IFNL1, BHLHA15, ASPRV1, MUC15, HT, WNK1, GORASP1, APOBEC3G, TLR8, NXPH1, FLVCR1, SLC17A5, IFI44L, TNFSF13B, CD226, PROS1, C1D, AKR1A1, GTPBP1, H3C7, SKAP2, PLA2G6, H3C2, H3C10, H3C12, PTGS1, PC, PROC, GNAS, EGF, EMD, ENG, EPO, F9, GCY, GP1BA, DDIT3, GYPB, CFH, HLA-A, HLA-B, HLA-DMA, HLA-DPB1, EDN1, CYBB, PPARG, TSPO, AKT1, AMH, APP, APRT, AQP4, SERPINC1, C4A, CHRM3, C5, CAPS, ENTPD1, CD59, CDR1, CDR2, HLA-DRB4, HMGB1, HSPA4, PF4V1, NPHP1, NT5E, TNFRSF11B, SERPINB2, AGER, PF4, PGF, HSPA5, PIK3CA, PLA2G1B, PLA2G2A, PLSCR1, PON1, POU1F1, NOS3, COX3, MSN, MLH1, MFAP1, CD46, MBL2, LCT, ITGB2, ITGAM, ISG20, IRF5, IL6, IL2RA, IGHG3, IGF1, ICAM1, C20orf181
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Usher Syndrome
Wikipedia
Syndrome characterized by a combination of hearing loss and visual impairment Usher syndrome Other names Usher–Hallgren syndrome Usher syndrome is inherited in an autosomal recessive pattern. The genes implicated in Usher syndrome are described below. Specialty Ophthalmology Usher syndrome , also known as Hallgren syndrome , Usher–Hallgren syndrome , retinitis pigmentosa–dysacusis syndrome or dystrophia retinae dysacusis syndrome , [1] is a rare genetic disorder caused by a mutation in any one of at least 11 genes resulting in a combination of hearing loss and visual impairment . ... Usher syndrome is named after Scottish ophthalmologist Charles Usher , who examined the pathology and transmission of the syndrome in 1914. ... Thirteen other syndromes may exhibit signs similar to Usher syndrome, including Alport syndrome , Alström syndrome , Bardet–Biedl syndrome , Cockayne syndrome , spondyloepiphyseal dysplasia congenita , Flynn–Aird syndrome , Friedreich ataxia , Hurler syndrome (MPS-1), Kearns–Sayre syndrome (CPEO), Norrie syndrome , osteopetrosis (Albers–Schonberg disease), Refsum disease (phytanic acid storage disease) and Zellweger syndrome (cerebrohepatorenal syndrome). ... "A new clinical classification for Usher's syndrome based on a new subtype of Usher's syndrome type I".