ORPHA:1146
Distal arthrogryposis type 1
Synonyms: DA1 · Digitotalar dysmorphism
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Neonatal
- Status
- active
A form of arthrogryposis characterized by contractures of the distal regions of the hands and feet in the absence of a primary neurological and/or muscle disease affecting limb function. Facial involvement is limited to a small mouth and impaired mouth opening. No additional anomalies are reported.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Distal arthrogryposis type 1 | DA1 · Digitotalar dysmorphism |
| fr | Arthrogrypose distale type 1 | Arthrogrypose distale type I · Dysmorphie digito-astragalienne |
| de | Arthrogrypose, distale, Typ 1 | DA1 · Dysmorphien, digitotalare |
| es | Artrogriposis distal tipo 1 | DA1 · Dismorfia digitotalar |
| it | Artrogriposi distale, tipo 1 | Artrogriposi distale, tipo 1 · DA1 · Dismorfismo digitotalare |
| nl | Distale artrogrypose type 1 | DA1 · Digito-talaire dysmorfie |
| pt | Artrogripose distal tipo 1 | AD1 · Artrogripose distal tipo I · Dismorfismo digitotalar |
| pl | Artrogrypoza dystalna typu 1 | Artrogrypoza dystalna typu 1 |
| cs | Distální artrogrypóza, typ I | DA1 · DA1A · Digitotalární dysmofismus |
| uk | Дистальний артрогрипоз, тип 1 | DA1 · Дизморфізм дигітоталарального апарату |
| zh | 远端关节挛缩1型 | 远端关节弯曲1型 |
| tr | Dijitotalar dismorfizm | DA1 · DA1A · Distal artrogripozis tip 1 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 108120 | NTBT | validated | |
| OMIM | 126050 | BTNT | validated | |
| OMIM | 614335 | BTNT | validated | |
| OMIM | 618435 | BTNT | validated | |
| OMIM | 619110 | BTNT | validated | |
| ICD-10 | Q68.8 | NTBT | attributed | validated |
| ICD-11 | LD26.4Y | NTBT | index | validated |
| MONDO | 0015240 | E | validated | |
| MeSH | C535378 | E | validated | |
| UMLS | C0220662 | E | validated | |
| GARD | 787 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:97120Distal arthrogryposis
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis - ORPHA:98738Neurological muscular channelopathy due to a genetic sodium channel defect
rare genetic diseases; rare neurological diseases
No children.
4
Genes
6 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MYBPC1 | Disease-causing germline mutation(s) in | Assessed | HGNC:7549 | ENSG00000196091 | 160794 | 12q23.2 | myosin binding protein C1 | 20045868[PMID] |
| MYH3 | Disease-causing germline mutation(s) in | Assessed | HGNC:7573 | ENSG00000109063 | 160720 | 17p13.1 | myosin heavy chain 3 | 23401156[PMID] |
| NALCN | Disease-causing germline mutation(s) in | Assessed | HGNC:19082 | ENSG00000102452 | 611549 | 13q32.3-q33.1 | sodium leak channel, non-selective | 25683120[PMID] |
| TNNI2 | Disease-causing germline mutation(s) in | Assessed | HGNC:11946 | ENSG00000130598 | 191043 | 11p15.5 | troponin I2, fast skeletal type | 23401156[PMID] |
| TNNT3 | Disease-causing germline mutation(s) in | Assessed | HGNC:11950 | ENSG00000130595 | 600692 | 11p15.5 | troponin T3, fast skeletal type | 23401156[PMID] |
| TPM2 | Disease-causing germline mutation(s) in | Assessed | HGNC:12011 | ENSG00000198467 | 190990 | 9p13.3 | tropomyosin 2 | 23401156[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
9 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001181 | Adducted thumb | |
| HP:0010557 | Overlapping fingers | |
| Frequent (79-30%) | ||
| HP:0100490 | Camptodactyly of finger | |
| HP:0001387 | Joint stiffness | |
| HP:0001883 | Talipes | |
| HP:0009465 | Ulnar deviation of finger | |
| Occasional (29-5%) | ||
| HP:0003272 | Abnormality of the hip bone | |
| HP:0000160 | Narrow mouth | |
| HP:0001838 | Rocker bottom foot | |
Run the differential on the 2 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1146
- This record as JSON: /data/d/1146.json