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
..expandArthrogryposis, Distal, Type 4 (C563791)

       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:909
Name:Arthrogryposis, Distal, Type 4
Definition:
Alternative IDs:OMIM:609128
ParentIDs:MESH:D001176
TreeNumbers:C05.550.150/C563791 |C05.651.102/C563791 |C05.660.077/C563791 |C16.131.621.077/C563791
Synonyms:Arthrogryposis, Distal, Type Iid |Arthrogryposis With Severe Scoliosis |DA4 |DAIID
Slim Mappings:Congenital abnormality|Musculoskeletal disease
Reference: MedGen: C563791
MeSH: C563791
OMIM: 609128;

Genes:
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0001215Camptodactyly of 2nd-5th fingers
3 HP:0000267Cranial asymmetry
4 HP:0005650Cutaneous syndactyly between fingers 2 and 5
5 HP:0005280Depressed nasal bridge
6 HP:0010326Deviation of the 2nd toe
7 HP:0005684Distal arthrogryposis
8 HP:0008110Equinovarus deformity
9 HP:0100500Fibular deviation of toes
10 HP:0000666Horizontal nystagmus
11 HP:0008589Hypoplastic helices
12 HP:0000059Hypoplastic labia majora
13 HP:0010864Intellectual disability, severe
14 HP:0002808Kyphosis
15 HP:0000294Low anterior hairline
16 HP:0002162Low posterior hairline
17 HP:0004626Lumbar scoliosis
18 HP:0000938Osteopenia
19 HP:0002650Scoliosis
20 HP:0000954Single transverse palmar crease
21 HP:0001762Talipes equinovarus
22 HP:0000473Torticollis
Disease Causing ClinVar Variants