POMGNT2-related limb-girdle muscular dystrophy R24
Synonyms: POMGNT2-related LGMD R24 · POMGNT2-related muscular dystrophy · LGMD type R24 · Limb-girdle muscular dystrophy type R24
- Type
- Disease
- Group
- Disorder
- Age of onset
- Adolescent, Infancy
- Status
- active
A rare autosomal recessive limb-girdle muscular dystrophy characterized by infantile to adolescent onset of a milder form of limb-girdle muscular dystrophy with or without intellectual disability. Patients present variable proximal limb muscular weakness with calf hypertrophy and elevated serum creatine kinase.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | POMGNT2-related limb-girdle muscular dystrophy R24 | POMGNT2-related LGMD R24 · POMGNT2-related muscular dystrophy · LGMD type R24 · Limb-girdle muscular dystrophy type R24 |
| fr | Dystrophie musculaire des ceintures associée à POMGNT2 R24 | Dystrophie musculaire associée à POMGNT2 · Dystrophie musculaire des ceintures type R24 · LGMD associée à POMGNT2 R24 · LGMD type R24 |
| de | POMGNT2-assoziierte Gliedergürtelmuskeldystrophie R24 | POMGNT2-assoziierte Muskeldystrophie |
| es | Distrofia muscular de cinturas R24 asociada a POMGNT2 | Distrofia muscular asociada a POMGNT2 |
| it | Distrofia muscolare dei cingoli tipo R24 correlata a POMGNT2 | Distrofia muscolare correlata a POMGNT2 · Distrofia muscolare dei cingoli tipo R24 · LGMD R24 correlata a POMGNT2 · LGMD tipo R24 |
| nl | POMGNT2-gerelateerde limb-girdle-spierdystrofie R24 | LGMD type R24 · Limb-girdle-spierdystrofie type R24 · POMGNT2-gerelateerde LGMD R24 · POMGNT2-gerelateerde musculaire dystrofie |
| pt | Distrofia das cinturas musculares dos membros R24 POMGNT2-relacionada | |
| pl | Dystrofia mięśniowa obręczowo-kończynowa związana z POMGNT2, R24 | Dystrofia mięśniowa obręczow-kończynowa związana z POMGNT2 |
| cs | Svalová dystrofie končetin související s POMGNT2 R24 | = en |
| uk | Кінцівково-поясна мязова дистрофія R24, повязана з POMGNT2 | LGMD тип R24 · Мязова дистрофія мязів поясу кінцівок, тип R24 · LGMD R24, повязаний з POMGNT2 · Мязова дистрофія, повязана з POMGNT2 |
| zh | POMGNT2基因相关的肢肌营养不良症 R24型 | 肢肌营养不良症 R24型 |
| tr | POMGNT2-ilişkili ekstremite kavşak tip kas distrofisi R24 | LGMD tip R24 · POMGNT2-ilişkili LGMD R24 · POMGNT2-ilişkili kas distrofisi · Ekstremite-kavşak tipi kas distrofisi tip R24 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 618135 | E | validated | |
| ICD-10 | G71.0 | NTBT | attributed | validated |
| MONDO | 0035432 | E | validated | |
| UMLS | C5680123 | 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:371047Congenital disorder of glycosylation with neurological involvement
rare genetic diseases; rare neurological diseases - ORPHA:207113Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan
rare genetic diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 27066570[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27066570[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
13 annotations · validated 2020-08-27| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0008981 | Calf muscle hypertrophy | |
| HP:0003236 | Elevated circulating creatine kinase concentration | |
| HP:0001249 | Intellectual disability | |
| HP:0001270 | Motor delay | |
| HP:0100614 | Myositis | |
| HP:0002465 | Poor speech | |
| HP:0008994 | Proximal muscle weakness in lower limbs | |
| Occasional (29-5%) | ||
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0005912 | Biliary atresia | |
| HP:0009046 | Difficulty running | |
| HP:0003698 | Difficulty standing | |
| HP:0011892 | Low levels of vitamin K | |
| HP:0003202 | Skeletal muscle atrophy | |
Annotation source: 27066570[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/565899
- This record as JSON: /data/d/565899.json