ORPHA:1143
Neurogenic arthrogryposis multiplex congenita
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A form of arthrogryposis multiplex congenita characterized by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is secondary to neurogenic muscular atrophy.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Neurogenic arthrogryposis multiplex congenita | |
| fr | Arthrogrypose congénitale multiple neurogénique | |
| de | Arthrogryposis multiplex congenita, neurogener Typ | Neurogene AMC |
| es | Artrogriposis múltiple congénita tipo neurogénico | |
| it | Artrogriposi congenita multipla tipo neurogeno | |
| nl | Neurogene arthrogryposis multiplex congenita | |
| pt | Artrogripose múltipla congénita tipo neurogénico | |
| pl | Wrodzona wielostawowa artrogrypoza pochodzenia neurogennego | |
| cs | Arthrogryposis multiplex congenita, neurogenní forma | Amyoplasia congenita, neuropatická forma · Syndrom mnohočetných kloubních kontraktur, neuropatická forma |
| uk | Нейрогенний множинний вроджений артрогрипоз | |
| zh | 先天性多发性神经源性关节挛缩 | |
| tr | Nörojenik artrogripozis multipleks konjenita |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 208100 | BTNT | validated | |
| OMIM | 618766 | BTNT | validated | |
| ICD-10 | Q74.3 | NTBT | attributed | validated |
| ICD-11 | LD26.41 | NTBT | index | validated |
| MONDO | 0008823 | E | validated | |
| MeSH | C536614 | E | validated | |
| UMLS | C1859721 | E | validated | |
| GARD | 790 | 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 (1):
- ORPHA:1037Arthrogryposis multiplex congenita
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
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Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| COL25A1 | Disease-causing germline mutation(s) in | Assessed | HGNC:18603 | ENSG00000188517 | 610004 | 4q25 | collagen type XXV alpha 1 chain | 35077597[PMID] |
| ERGIC1 | Disease-causing germline mutation(s) in | Assessed | HGNC:29205 | ENSG00000113719 | 617946 | 5q35.1 | endoplasmic reticulum-golgi intermediate compartment 1 | 28317099[PMID] |
| SCYL2 | Disease-causing germline mutation(s) in | Assessed | HGNC:19286 | ENSG00000136021 | 616365 | 12q23.1 | SCY1 like pseudokinase 2 | 31960134[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 4.3 / 100 000 | Europe | Value and class | Not yet validated | 23050160[PMID]_22005589[PMID] |
| Point prevalence | Unknown | — | Europe | Class only | Not yet 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
33 annotations · validated 2021-07-12| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0001371 | Flexion contracture | |
| Very frequent (99-80%) | ||
| HP:0003444 | EMG: chronic denervation signs | |
| Frequent (79-30%) | ||
| HP:0006466 | Ankle flexion contracture | |
| HP:0001284 | Areflexia | |
| HP:0002987 | Elbow flexion contracture | |
| HP:0006380 | Knee flexion contracture | |
| HP:0007340 | Lower limb muscle weakness | |
| HP:0008180 | Mildly elevated creatine kinase | |
| HP:0003202 | Skeletal muscle atrophy | |
| HP:0003484 | Upper limb muscle weakness | |
| HP:0001239 | Wrist flexion contracture | |
| Occasional (29-5%) | ||
| HP:0007477 | Abnormal dermatoglyphics | |
| HP:0001627 | Abnormal heart morphology | |
| HP:0008807 | Acetabular dysplasia | |
| HP:0410263 | Brain imaging abnormality | |
| HP:0001623 | Breech presentation | |
| HP:0001558 | Decreased fetal movement | |
| HP:0008110 | Equinovarus deformity | |
| HP:0002380 | Fasciculations | |
| HP:0011968 | Feeding difficulties | |
| HP:0003273 | Hip contracture | |
| HP:0002827 | Hip dislocation | |
| HP:0000316 | Hypertelorism | |
| HP:0000347 | Micrognathia | |
| HP:0002058 | Myopathic facies | |
| HP:0001562 | Oligohydramnios | |
| HP:0001357 | Plagiocephaly | |
| HP:0002098 | Respiratory distress | |
| HP:0002747 | Respiratory insufficiency due to muscle weakness | |
| HP:0001838 | Rocker bottom foot | |
| HP:0030799 | Scaphocephaly | |
| HP:0002650 | Scoliosis | |
| HP:0010781 | Skin dimple | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 21345701[PMID]_28317099[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1143
- This record as JSON: /data/d/1143.json