ORPHA:206564
POMGNT1-related limb-girdle muscular dystrophy R15
Synonyms: Autosomal recessive limb-girdle muscular dystrophy type 2O · LGMD type 2O · LGMD2O · Limb-girdle muscular dystrophy type 2O · POMGNT1-related LGMD R15
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Childhood
- Status
- active
A form of limb-girdle muscular dystrophy characterized by an onset in childhood or adolescence of rapidly progressive proximal limb muscle weakness (particularly affecting the neck, hip girdle, and shoulder abductors), hypertrophy in the calves and quadriceps, ankle contractures, and myopia.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | POMGNT1-related limb-girdle muscular dystrophy R15 | Autosomal recessive limb-girdle muscular dystrophy type 2O · LGMD type 2O · LGMD2O · Limb-girdle muscular dystrophy type 2O · POMGNT1-related LGMD R15 |
| fr | Dystrophie musculaire des ceintures associée à POMGNT1 R15 | Dystrophie musculaire des ceintures autosomique récessive type 2O · Dystrophie musculaire des ceintures type 2O · LGMD associée à POMGNT1 R15 · LGMD type 2O · LGMD2O |
| de | POMGNT1-assoziierte Gliedergürtelmuskeldystrophie R15 | LGMD Typ 2O · LGMD2O · POMGNT1-assoziierte LGMD R15 · Gliedergürtelmuskeldystrophie Typ 2O · Gliedergürtelmuskeldystrophie, autosomal-rezessive, Typ 2O |
| es | Distrofia muscular de cinturas R15 asociada a POMGNT1 | Distrofia muscular de cinturas autosómica recesiva tipo 2O · LGMD2O |
| it | Distrofia muscolare dei cingoli, autosomica recessiva, tipo 2O | LGMD2O |
| nl | POMGNT1-gerelateerde limb-girdle-spierdystrofie R15 | Autosomaal recessieve bekken- en schoudergordel-spierdystrofie type 2O · Autosomaal recessieve ledemaatgordel-spierdystrofie type 2O · Autosomaal recessieve limb-girdle-spierdystrofie type 2O · LGMD type 2O · LGMD2O · Limb-girdle-spierdystrofie type 2O · POMGNT1-gerelateerde LGMD R15 |
| pt | Distrofia muscular das cinturas dos membros R15 POMGNT1-relacionada | Distrofia muscular das cinturas dos membros autossómica recessiva tipo 2O |
| pl | Autosomalna recesywna dystrofia obręczowo-kończynowa typu 2O | LGMD2O |
| cs | Autozomálně recesivní pletencová svalová dystrofie, typ 2O | LGMD2O |
| uk | POMGNT1-асоційована кінцівково-поясна мязова дистрофія R15 | Аутосомно-рецесивна мязова дистрофія мязів пояса кінцівок, тип 2O · LGMD тип 2O · LGMD2O · Мязова дистрофія мязів поясу кінцівок, тип 2O · LGMD R15, повязаний з POMGNT1 |
| zh | POMGNT1基因相关的肢带肌萎缩症R15型 | 常染色体隐性遗传肢带型肌营养不良2O型 |
| tr | POMGNT1 -ilişkili ekstremite kavşak tip kas distrofisi R15 | LGMD2O · LGMD tip 2O · POMGNT1-ilişkili LGMD R15 · Ekstremite-kavşak tipi kas distrofisi tip 2O · Otozomal çekinik ekstremite-kavşak tipi kas distrofisi tip 2O |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613157 | E | validated | |
| ICD-10 | G71.0 | NTBT | attributed | validated |
| ICD-11 | 8C70.41 | NTBT | attributed | validated |
| MONDO | 0013161 | E | validated | |
| UMLS | C3150417 | 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 (4):
- ORPHA:102015Autosomal recessive limb-girdle muscular dystrophy
rare genetic diseases; rare neurological diseases - ORPHA:371047Congenital disorder of glycosylation with neurological involvement
rare genetic diseases; rare neurological diseases - ORPHA:309469Disorder of O-mannosylglycan synthesis
rare inborn errors of metabolism; rare genetic diseases - ORPHA:209024Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase
rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| POMGNT1 | Disease-causing germline mutation(s) in | Assessed | HGNC:19139 | ENSG00000085998 | 606822 | 1p34.1 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | 20301582[PMID]_18195152[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 18195152[PMID]_22419172[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_18195152[PMID]_22419172[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.
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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/206564
- This record as JSON: /data/d/206564.json