ORPHA:75840
Ullrich congenital muscular dystrophy
Synonyms: UCMD · Ullrich scleroatonic muscular dystrophy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A form of congenital muscular dystrophy characterized by congenital weakness, hypotonia, proximal joint contractures, marked hyperlaxity of the distal joints, with a loss of ambulation (if achieved) and uniform respiratory insufficiency during childhood.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ullrich congenital muscular dystrophy | UCMD · Ullrich scleroatonic muscular dystrophy |
| fr | Dystrophie musculaire congénitale d'Ullrich | Dystrophie musculaire scléro-atonique d'Ullrich · UCMD |
| de | Muskeldystrophie, kongenitale, Typ Ullrich | Muskeldystrophie, sklero-atonische · UCMD · Ullrich-CMD |
| es | Distrofia muscular congénita de Ullrich | DMCU · Distrofia muscular escleroatónica de Ulrich |
| it | Distrofia muscolare congenita di Ullrich | Distrofia muscolare scleroatonica di Ullrich · UCMD |
| nl | Congenitale spierdystrofie, Ullrich-type | Scleroatonische spierdystrofie, Ullrich-type · UCMD |
| pt | Distrofia muscular congénita Ullrich | Distrofia muscular escleroatónica Ullrich · UCMD |
| pl | Wrodzona dystrofia mięśniowa, typ Ullricha | Choroba Ullricha · Skleroatoniczna dystrofia mięśniowa · UCMD |
| cs | Vrozená svalová dystrofie typu Ullrich | Skleroatonická svalová dystrofie · UCMD · Ullrichova choroba |
| uk | Вроджена мязова дистрофія Ульріха | UCMD · Склероатонічна мязова дистрофія Ульріха |
| zh | 先天性肌营养不良症，Ullrich型 | 硬化性肌营养不良症 |
| tr | Doğumsal kas distrofisi, Ullrich tipi | UCMD · Ullrich hastalığı · Skleroatonik kas distrofisi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 254090 | BTNT | validated | |
| OMIM | 616470 | BTNT | validated | |
| OMIM | 620727 | BTNT | validated | |
| OMIM | 620728 | BTNT | validated | |
| ICD-10 | G71.2 | NTBT | attributed | validated |
| ICD-11 | 8C70.6 | NTBT | index | validated |
| MONDO | 0000355 | E | validated | |
| UMLS | C4551860 | E | validated | |
| GARD | 4769 | 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:646098Collagen VI-related congenital muscular dystrophy
rare genetic diseases; rare neurological diseases
No children.
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Genes
4 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| COL12A1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:2188 | ENSG00000111799 | 120320 | 6q13-q14.1 | collagen type XII alpha 1 chain | 24334604[PMID] |
| COL6A1 | Disease-causing germline mutation(s) in | Assessed | HGNC:2211 | ENSG00000142156 | 120220 | 21q22.3 | collagen type VI alpha 1 chain | 18366090[PMID]_20301676[PMID] |
| COL6A2 | Disease-causing germline mutation(s) in | Assessed | HGNC:2212 | ENSG00000142173 | 120240 | 21q22.3 | collagen type VI alpha 2 chain | 18366090[PMID]_20301676[PMID] |
| COL6A3 | Disease-causing germline mutation(s) in | Assessed | HGNC:2213 | ENSG00000163359 | 120250 | 2q37.3 | collagen type VI alpha 3 chain | 18366090[PMID]_20301676[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.13 / 100 000 | United Kingdom | Value and class | Validated | 19767415[PMID] |
| Point prevalence | 1-9 / 1 000 000 | — | 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
31 annotations · validated 2017-07-03| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0004303 | Abnormal muscle fiber morphology | |
| HP:0000174 | Abnormal palate morphology | |
| HP:0003458 | EMG: myopathic abnormalities | |
| HP:0003236 | Elevated circulating creatine kinase concentration | |
| HP:0001371 | Flexion contracture | |
| HP:0003324 | Generalized muscle weakness | |
| HP:0005072 | Hyperextensibility at wrists | |
| HP:0100297 | Increased endomysial connective tissue | |
| HP:0006149 | Increased laxity of fingers | |
| HP:0003557 | Increased variability in muscle fiber diameter | |
| HP:0002808 | Kyphosis | |
| HP:0003306 | Spinal rigidity | |
| Frequent (79-30%) | ||
| HP:0001181 | Adducted thumb | |
| HP:0001558 | Decreased fetal movement | |
| HP:0009113 | Diaphragmatic weakness | |
| HP:0002987 | Elbow flexion contracture | |
| HP:0000565 | Esotropia | |
| HP:0002359 | Frequent falls | |
| HP:0003700 | Generalized amyotrophy | |
| HP:0001290 | Generalized hypotonia | |
| HP:0002827 | Hip dislocation | |
| HP:0006380 | Knee flexion contracture | |
| HP:0010511 | Long toe | |
| HP:0000347 | Micrognathia | |
| HP:0001324 | Muscle weakness | |
| HP:0008081 | Pes valgus | |
| HP:0002878 | Respiratory failure | |
| HP:0002650 | Scoliosis | |
| HP:0000470 | Short neck | |
| HP:0001238 | Slender finger | |
| HP:0000473 | Torticollis | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 11381124[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/75840
- This record as JSON: /data/d/75840.json