Congenital lethal myopathy, Compton-North type
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
Congenital lethal myopathy, Compton-North type is a rare, genetic, lethal, non-dystrophic congenital myopathy disorder characterized, antenatally, by fetal akinesia, intrauterine growth restriction and polyhydramnios, and, following birth, by severe neonatal hypotonia, severe generalized skeletal, bulbar and respiratory muscle weakness, multiple flexion contractures, and normal creatine kinase serum levels. Ultrastructurally, loss of integrin alpha7, beta2-syntrophin and alpha-dystrobrevin from the muscle sarcolemma and disruption of sarcomeres with disorganization of the Z band are observed.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital lethal myopathy, Compton-North type | |
| fr | Myopathie létale congénitale type Compton-North | |
| de | Myopathie, letale, kongenitale, Typ Compton-North | |
| es | Miopatía congénita letal tipo Compton-North | |
| it | Miopatia letale congenita, tipo Compton-North | |
| nl | Congenitale letale myopathie, Compton-North-type | |
| pt | Miopatia letal congénita, tipo Compton-North | |
| pl | Wrodzona śmiertelna miopatia, typu Comptona i Northa | |
| cs | Vrozená letální myopatie, typ Comptonové-Northové | Vrozená letální myopatie, typ Compton-Northové |
| uk | Вроджена летальна міопатія типу Комптона-Норта | |
| zh | 康普顿北部型先天性致死性肌病 | |
| tr | Doğumsal letal miyopati, Compton-North tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612540 | E | validated | |
| ICD-10 | G71.2 | NTBT | attributed | validated |
| MONDO | 0012929 | E | validated | |
| UMLS | C4750773 | 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 (2):
- ORPHA:1037Arthrogryposis multiplex congenita
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:97245Congenital myopathy
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CNTN1 | Disease-causing germline mutation(s) in | Assessed | HGNC:2171 | ENSG00000018236 | 600016 | 12q12 | contactin 1 | 19026398[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 19026398[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_19026398[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/210163
- This record as JSON: /data/d/210163.json