Distal arthrogryposis type 5D
Synonyms: Distal arthrogryposis type 5 without ophthalmoplegia · DA5D · Distal arthrogryposis type 5 without ophthalmoparesis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
Distal arthrogryposis type 5D is a rare subtype of distal arthrogryposis syndrome characterized by arthrogryposis multiplex congenita affecting the hands, feet, ankle, shoulders and/or neck, with camptodactyly of the fingers and limited knee and hip extension, associated with asymmetric ptosis and, less frequently, other ocular manifestations (e.g. ophthalmoplegia, strabismus). Affected individuals frequently have a bulbous nose, furrowed tongue, micro/retrognathia, a short neck, congenital hip dislocation, club feet, scoliosis and short stature.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Distal arthrogryposis type 5D | Distal arthrogryposis type 5 without ophthalmoplegia · DA5D · Distal arthrogryposis type 5 without ophthalmoparesis |
| fr | Arthrogrypose distale type 5D | Arthrogrypose distale type 5 sans ophtalmoparésie · Arthrogrypose distale type 5 sans ophtalmoplégie · DA5D |
| de | Arthrogrypose, distale, Typ 5D | DA5D · Distale Arthrogrypose Typ 5 ohne Ophthalmoplegie |
| es | Artrogriposis distal tipo 5D | Artrogriposis distal tipo 5 sin oftalmoparesia · Artrogriposis distal tipo 5 sin oftalmoplejía · DA5D |
| it | Artrogriposi distale, tipo 5D | Artrogriposi distale tipo 5 senza oftalmoparesi · Artrogriposi distale tipo 5 senza oftalmoplegia · DA5D |
| nl | Distale artrogrypose type 5D | DA5D · Distale artrogrypose type 5 zonder oftalmoparese · Distale artrogrypose type 5 zonder oftalmoplegie |
| pt | Artrogripose distal tipo 5D | |
| pl | Artrogrypoza dystalna typu 5D | Artrogrypoza dystalna typu 5 bez oftalmoparezy · Artrogrypoza dystalna typu 5 bez oftalmoplegii · DA5D |
| cs | Distální artrogrypóza, typ 5D | DA5D · Distální artrogrypóza, typ 5 bez oftalmoparézy · Distální artrogrypóza, typ 5 bez oftalmoplegie |
| uk | Дистальний артрогрипоз, тип 5D | DA5D · Дистальний артрогрипоз 5 типу без офтальмопарезу · Дистальний артрогрипоз 5 типу без офтальмоплегії |
| zh | 5D型末端关节挛缩 | 末端关节挛缩5型不伴眼肌瘫痪 |
| tr | Distal artrogripoz tip 5D | DA5D · Oftalmopleji ile seyretmeyen distal artrogripozis tip 5 · Oftalmoparezi ile seyretmeyen distal artrogripozis tip 5 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615065 | E | validated | |
| ICD-10 | Q68.8 | NTBT | attributed | validated |
| MONDO | 0014028 | E | validated | |
| UMLS | C3554415 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:97120Distal arthrogryposis
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ECEL1 | Disease-causing germline mutation(s) in | Assessed | HGNC:3147 | ENSG00000171551 | 605896 | 2q37.1 | endothelin converting enzyme like 1 | 23261301[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 33 cases | Worldwide | Case(s) | Validated | 25099528[PMID]_24782201[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25099528[PMID]_24782201[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/329457
- This record as JSON: /data/d/329457.json