ORPHA:646113
Intermediate collagen VI-related muscular dystrophy
Synonyms: Intermediate COL6-RD
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Status
- active
A form of congenital muscular dystrophy characterized by congenital weakness, hypotonia, proximal joint contractures, marked hyperlaxity of the distal joints, attainment of independent ambulation which is subsequently lost and uniform respiratory insufficiency during the teenage years.
1
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Intermediate collagen VI-related muscular dystrophy | Intermediate COL6-RD |
| fr | Dystrophie musculaire congénitale liée au collagène de type VI, forme intermédiaire | Dystrophie intermédiaire liée au collagène de type VI |
| de | Intermediäre Kollagen Typ VI-assoziierte Muskeldystrophie | |
| es | Distrofia muscular intermedia asociada al colágeno VI | COL6-RD intermedia |
| it | Distrofia muscolare intermedia correlata al collagene tipo VI | COL6-RD intermedia |
| nl | Intermediaire collageen VI-gerelateerde spierdystrofie | Intermediaire COL6-RD |
| pt | Distrofia muscular colagénio VI-relacionada intermédia | COL6-RD intermédia |
| pl | Pośrednia dystrofia mięśniowa związana z kolagenem VI | = en |
| cs | Střední svalová dystrofie související s kolagenem VI | = en |
| uk | Помірно виражена мязова дистрофія, повязана з колагеном VI | Проміжний COL6-RD |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 158810 | BTNT | validated | |
| OMIM | 254090 | BTNT | validated | |
| ICD-10 | G71.2 | NTBT | attributed | validated |
| ICD-11 | 8C70.6 | NTBT | attributed | validated |
| MONDO | 0958353 | E | validated | |
| MONDO | 958353 | E | validated | |
| UMLS | C5816698 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:646098Collagen VI-related congenital muscular dystrophy
rare genetic diseases; rare neurological diseases
No children.
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Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| COL6A1 | Disease-causing germline mutation(s) in | Assessed | HGNC:2211 | ENSG00000142156 | 120220 | 21q22.3 | collagen type VI alpha 1 chain | 21496625[PMID] |
| COL6A2 | Disease-causing germline mutation(s) in | Assessed | HGNC:2212 | ENSG00000142173 | 120240 | 21q22.3 | collagen type VI alpha 2 chain | 20301676[PMID] |
| COL6A3 | Disease-causing germline mutation(s) in | Assessed | HGNC:2213 | ENSG00000163359 | 120250 | 2q37.3 | collagen type VI alpha 3 chain | 24271325[PMID] |
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/646113
- This record as JSON: /data/d/646113.json