Arthrogryposis-anterior horn cell disease syndrome
Synonyms: AAHD · Vuopala disease
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal
- Status
- active
A rare arthrogryposis syndrome characterized by the association of arthrogryposis multiplex congenita and a severe form of motor neuron disease with loss of anterior horn cells in the spinal cord. Patients present with fetal akinesia deformation sequence with multiple contractures and facial anomalies, such as low-set ears, hypoplastic jaw, and short neck, as well as hypotonia and respiratory insufficiency. Some patients may survive into childhood and show developmental delay, markedly decreased muscle bulk, dystonic and involuntary movements, ataxia, and poor speech.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Arthrogryposis-anterior horn cell disease syndrome | AAHD · Vuopala disease |
| fr | Syndrome d'arthrogrypose-maladie de la corne antérieure | Maladie de Vuopala |
| de | Arthrogrypose-anteriore Hornzellkrankheit-Syndrom | AAHD · Vuopala-Krankheit |
| es | Síndrome de artrogriposis-enfermedad de las células del cuerno anterior | Enfermedad de Vuopala |
| it | Sindrome artrogriposi-malattia delle cellule delle corna anteriori | Malattia di Vuopala |
| nl | Artrogrypose - voorhoornaandoening-syndroom | AAHD · Ziekte van Vuopala |
| pt | Artrogripose - doença das células dos cornos anteriores da medula, letal | Doença de Vuopala |
| pl | Śmiertelna artrogrypoza - choroba komórek rogu przedniego | Choroba Vuopala · LAAHD |
| cs | Syndrom zahrnující letální artrogrypózu a nemoc buněk předních míšních rohů | LAAHD · Vuopalové nemoc |
| uk | Синдром артрогрипозу-хвороби клітин переднього рогу | AAHD · Хвороба Вуопала |
| zh | 关节挛缩-前角细胞病综合征 | Vuopala病 |
| tr | Artrogripozis-ön boynuz hücre hastalığı sendromu | AAHD · Vuopala hastalığı |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 611890 | E | validated | |
| ICD-10 | Q68.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0012750 | E | validated | |
| UMLS | C2678471 | 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:1037Arthrogryposis multiplex congenita
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GLE1 | Disease-causing germline mutation(s) in | Assessed | HGNC:4315 | ENSG00000119392 | 603371 | 9q34.11 | GLE1 RNA export mediator | 18204449[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 15 cases | Worldwide | Case(s) | Validated | 7821908[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 7821908[PMID]_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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/53696
- This record as JSON: /data/d/53696.json