Limb-girdle muscular dystrophy due to POMK deficiency
Synonyms: LGMD due to POMK deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
Limb-girdle muscular dystrophy due to POMK deficiency is a form of limb-girdle muscular dystrophy presenting in infancy with muscle weakness and delayed motor development (eventually learning to walk at 18 months of age) followed by progressive proximal weakness, pseudohypertrophy of calf muscles, mild facial weakness, and borderline intelligence.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Limb-girdle muscular dystrophy due to POMK deficiency | LGMD due to POMK deficiency |
| fr | Dystrophie musculaire des ceintures par déficit en POMK | LGMD par déficit en POMK |
| de | Gliedergürtelmuskeldystrophie durch POMK-Mangel | LGMD durch POMK-Mangel |
| es | Distrofia muscular de cinturas por deficiencia de POMK | LGMD por deficiencia de POMK |
| it | Distrofia muscolare dei cingoli da deficit di POMK | LGMD da deficit di POMK |
| nl | Limb-girdle-spierdystrofie als gevolg van POMK-deficiëntie | Bekken- en schoudergordel-spierdystrofie als gevolg van POMK-deficiëntie · LGMD als gevolg van POMK-deficiëntie · Ledemaatgordel-spierdystrofie als gevolg van POMK-deficiëntie |
| pt | Distrofia muscular das cinturas dos membros devido a défice de POMK | |
| pl | Dystrofia obręczowo-kończynowa spowodowana niedoborem POMK | LGMD spowodowana niedoborem POMK |
| cs | Pletencová svalová dystrofie způsobená deficitem POMK | LGMD způsobená deficitem POMK |
| uk | Кінцівково-поясна мязова дистрофія, зумовлена дефіцитом POMK | LGMD через дефіцит POMK |
| zh | POMK缺陷导致肢带肌型肌营养不良 | POMK缺乏导致的LGMD |
| tr | POMK eksikliğine bağlı ekstremite-kuşak kas distrofisi | POMK eksikliğine bağlı LGMD |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616094 | E | validated | |
| ICD-10 | G71.0 | NTBT | attributed | validated |
| ICD-11 | 8C70.41 | NTBT | attributed | validated |
| MONDO | 0014489 | E | validated | |
| UMLS | C4015184 | 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 (4):
- ORPHA:102015Autosomal recessive limb-girdle muscular dystrophy
rare genetic diseases; rare neurological diseases - ORPHA:309469Disorder of O-mannosylglycan synthesis
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:207113Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan
rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| POMK | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:26267 | ENSG00000185900 | 615247 | 8p11.21 | protein O-mannose kinase | 24925318[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 24925318[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24925318[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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/445110
- This record as JSON: /data/d/445110.json