Congenital muscular dystrophy with integrin alpha-7 deficiency
Synonyms: Congenital muscular dystrophy with ITGA7 deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Congenital muscular dystrophy with integrin alpha-7 deficiency is a rare, genetic, congenital muscular dystrophy due to extracellular matrix protein anomaly characterized by early motor development delay and muscle weakness with mild elevation of serum creatine kinase, that may be followed by progressive disease course with predominantly proximal muscle weakness and atrophy, motor development regress, scoliosis and respiratory insufficiency.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital muscular dystrophy with integrin alpha-7 deficiency | Congenital muscular dystrophy with ITGA7 deficiency |
| fr | Dystrophie musculaire congénitale par déficit en intégrine alpha-7 | Dystrophie musculaire congénitale par déficit en ITGA7 |
| de | Kongenitale Myopathie mit Integrin-alpha-7-Mangel | Muskeldystrophie, kongenitale, mit ITGA7-Defizienz |
| es | Distrofia muscular congénita con deficiencia de integrina alfa-7 | Distrofia muscular congénita con deficiencia de ITGA7 |
| it | Distrofia muscolare congenita con deficit di integrina alfa-7 | Distrofia muscolare congenita con deficit di ITGA7 |
| nl | Congenitale spierdystrofie met deficiëntie van integrine alfa-7 | Congenitale spierdystrofie met ITGA7-deficiëntie |
| pt | Distrofia muscular congénita com deficiência de integrina alfa-7 | |
| pl | Wrodzona dystrofia mięśniowa z niedoborem integryny alfa-7 | Wrodzona dystrofia mięśniowa z niedoborem ITGA7 |
| cs | Vrozená svalová dystrofie s deficitem integrinu alfa7 | Vrozená svalová dystrofie s deficitem ITGA7 |
| uk | Вроджена мязова дистрофія з дефіцитом інтегрину альфа-7 | Вроджена мязова дистрофія з дефіцитом ITGA7 |
| zh | 整合素α7缺乏型先天性肌营养不良 | 先天性肌营养不良症伴ITGA7缺乏 |
| tr | İntegrin alfa-7 eksikliği ile seyreden doğumsal kas distrofisi | ITGA7 eksikliği ile seyreden doğumsal kas distrofisi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613204 | E | validated | |
| ICD-10 | G71.2 | NTBT | attributed | validated |
| ICD-11 | 8C70.6 | NTBT | index | validated |
| MONDO | 0013177 | E | validated | |
| MONDO | 13177 | E | validated | |
| MeSH | C567709 | E | validated | |
| UMLS | C2750786 | 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:97242Congenital muscular dystrophy
rare genetic diseases; rare neurological diseases - ORPHA:207098Qualitative or quantitative defects of integrin alpha-7
rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ITGA7 | Disease-causing germline mutation(s) in | Assessed | HGNC:6143 | ENSG00000135424 | 600536 | 12q13.2 | integrin subunit alpha 7 | 9590299[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | 0.03 / 100 000 | Europe | Value and class | 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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/34520
- This record as JSON: /data/d/34520.json