Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandArthrogryposis (D001176)
..Starting node
..expandMultiple Pterygium Syndrome, Autosomal Dominant (C566739)

       Child Nodes:



 Sister Nodes: 
..expandArthrogryposis and ectodermal dysplasia (C537441)
..expandArthrogryposis epileptic seizures migrational brain disorder (C537442)
..expandArthrogryposis multiplex congenita neurogenic type (C536614)
..expandArthrogryposis multiplex congenita whistling face (C538401)
..expandArthrogryposis multiplex congenita, distal type 1 (C535378)
..expandArthrogryposis multiplex congenita, distal type 2 (C535379)
..expandArthrogryposis multiplex congenita, distal, X-linked (C535380)
..expandArthrogryposis multiplex with deafness, inguinal hernias, and early death (C535381)
..expandArthrogryposis renal dysfunction cholestasis syndrome (C535382)
..expandARTHROGRYPOSIS, CONGENITAL, LOWER LIMB, X-LINKED (OMIM:300158)
..expandArthrogryposis, Distal, Type 10 (C566069)
..expandARTHROGRYPOSIS, DISTAL, TYPE 1A (OMIM:108120)
..expandArthrogryposis, distal, type 2E (C535384)
..expandArthrogryposis, Distal, Type 4 (C563791)
..expandArthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies (C535385)
..expandArthrogryposis, Distal, with Mental Retardation and Characteristic Facies (C565940)
..expandArthrogryposis, X-Linked, Type V (C564574)
..expandArthrogryposis-like hand anomaly and sensorineural deafness (C535386)
..expandBoylan Dew Greco syndrome (C537083)
..expandBruck syndrome 1 (C537406)
..expandBruck syndrome 2 (C537407)
..expandCamptodactyly-ichthyosis syndrome (C537976)
..expandCataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome (C566861)
..expandCerebrooculofacioskeletal Syndrome 2 (C565185)
..expandCerebrooculofacioskeletal Syndrome 4 (C565184)
..expandContractures ectodermal dysplasia cleft lip palate (C535465)
..expandCyprus facial neuromusculoskeletal syndrome (C536229)
..expandDistal arthrogryposis Moore Weaver type (C536814)
..expandDistal arthrogryposis type 2B (C538400)
..expandEHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1 (OMIM:601776)
..expandGerman Syndrome (C562543)
..expandGordon syndrome (C537288)
..expandHecht syndrome (C535857)
..expandHoloprosencephaly with Fetal Akinesia/Hypokinesia Sequence (C564409)
..expandJequier Kozlowski skeletal dysplasia (C537569)
..expandJohnston Aarons Schelley syndrome (C535883)
..expandKuskokwim disease (C538124)
..expandLadda Zonana Ramer syndrome (C538135)
..expandLethal Arthrogryposis With Anterior Horn Cell Disease (C567502)
..expandLethal congenital contracture syndrome 1 (C537194)
..expandLethal Congenital Contracture Syndrome 2 (C564369)
..expandMassa Casaer Ceulemans syndrome (C536031)
..expandMinicore myopathy, antenatal onset, with arthrogryposis (C537474)
..expandMultiple Pterygium Syndrome, Autosomal Dominant (C566739)
..expandMULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE (OMIM:253290)
..expandMuscular Dystrophy, Congenital, Producing Arthrogryposis (C564985)
..expandNeuropathy, congenital, with arthrogryposis multiplex (C535714)
..expandOculomelic amyoplasia (C537737)
..expandPelvic dysplasia arthrogryposis of lower limbs (C535548)
..expandPena Shokeir syndrome, type 1 (C536647)
..expandPodder-Tolmie syndrome (C537518)
..expandRay Peterson Scott syndrome (C535292)
..expandSpondylohypoplasia, arthrogryposis and popliteal pterygium (C535790)
..expandSpranger Schinzel Myers syndrome (C535801)
..expandTomaculous neuropathy (C536965)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:7470
Name:Multiple Pterygium Syndrome, Autosomal Dominant
Definition:
Alternative IDs:
ParentIDs:MESH:D001176
TreeNumbers:C05.550.150/C566739 |C05.651.102/C566739 |C05.660.077/C566739 |C16.131.621.077/C566739
Synonyms:Arthrogryposis, Distal, Type 8 |Pterygium Syndrome, Multiple, Autosomal Dominant
Slim Mappings:Congenital abnormality|Musculoskeletal disease
Reference: MedGen: C566739
MeSH: C566739
OMIM: 178110;

Genes:
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0002804Arthrogryposis multiplex congenita
3 HP:0012385Camptodactyly
4 HP:0000175Cleft palateHP:0040283
5 HP:0001363CraniosynostosisHP:0040283
6 HP:0000494Downslanted palpebral fissures
7 HP:0002987Elbow flexion contracture
8 HP:0002937Hemivertebrae
9 HP:0003273Hip contractureHP:0040283
10 HP:0006380Knee flexion contracture
11 HP:0000368Low-set, posteriorly rotated ears
12 HP:0001040Multiple pterygia
13 HP:0000508Ptosis
14 HP:0002650Scoliosis
15 HP:0000470Short neck
16 HP:0004322Short stature
17 HP:0003302SpondylolisthesisHP:0040283
18 HP:0002948Vertebral fusion
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_002470.3(MYH3):c.3224A>C (p.Gln1075Pro)4621MYH3Pathogenic796051884RCV000185627; NMedGen:C1867440,OMIM:178110,ORPHA:65743171054238510542385NM_002470.3:c.3224A>CNP_002461.2:p.Gln1075ProNC_000017.10:g.10542385T>GOMIM Allelic Variant:160720.0010C1867440 178110 Distal arthrogryposis type 8
NM_002470.3(MYH3):c.727_729delTCC (p.Ser243del)4621MYH3Pathogenic869320749RCV000185628; NMedGen:C1867440,OMIM:178110,ORPHA:65743171055188010551882NM_002470.3:c.727_729delTCCNP_002461.2:p.Ser243delNC_000017.10:g.10551880_10551882delGGAOMIM Allelic Variant:160720.0011C1867440 178110 Distal arthrogryposis type 8