ORPHA:653725
Autosomal recessive limb-girdle muscular dystrophy, type 28
Synonyms: LGMD, type 28 · LGMDR28 · Limb-girdle, type 28R
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
Orphadata ships no English definition for this code.
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Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive limb-girdle muscular dystrophy, type 28 | LGMD, type 28 · LGMDR28 · Limb-girdle, type 28R |
| fr | Dystrophie musculaire des ceintures autosomique récessive type 28 | Dystrophie musculaire des ceintures type 28R · LGMD type 28 · LGMDR28 |
| de | Gliedergürtelmuskeldystrophie, autosomal-rezessive, Typ 28 | LGMD Typ 28 · LGMDR28 |
| es | Distrofia muscular de cinturas autosómica recesiva tipo 28 | LGMD tipo 28 · LGMDR28 |
| it | Distrofia muscolare dei cingoli autosomica recessiva tipo 28 | Distrofia muscolare dei cingoli tipo 28R · LGMD tipo 28 · LGMDR28 |
| nl | Autosomaal recessieve limb-girdle-spierdystrofie, type 28 | = en |
| pt | Distrofia muscular da cintura dos membros autossómica recessiva, tipo 28 | Cintura dos membros, tipo 28R · LGMD, tipo 28 · LGMDR28 |
| pl | Autosomalna recesywna dystrofia mięśniowa obręczowo-kończynowa typu 28 | = en |
| cs | Autozomálně recesivní pletencová svalová dystrofie, typ 28 | = en |
| uk | Аутосомно-рецесивна кінцівково-поясна мязова дистрофія, тип 28 | LGMD, тип 28 · LGMDR28 · Пояс кінцівок, тип 28R |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 620375 | E | validated | |
| ICD-10 | G71.0 | NTBT | attributed | validated |
| MONDO | 0957270 | E | validated | |
| MONDO | 957270 | E | validated | |
| UMLS | C5830518 | 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:102015Autosomal recessive limb-girdle muscular dystrophy
rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HMGCR | Disease-causing germline mutation(s) in | Assessed | HGNC:5006 | ENSG00000113161 | 142910 | 5q13.3 | 3-hydroxy-3-methylglutaryl-CoA reductase | 36745799[PMID]_37167966[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 15 cases | Worldwide | Case(s) | Validated | 36745799[PMID]_37167966[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 36745799[PMID]_37167966[PMID]_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
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/653725
- This record as JSON: /data/d/653725.json