ORPHA:206559
POMT2-related limb-girdle muscular dystrophy R14
Synonyms: Autosomal recessive limb-girdle muscular dystrophy type 2N · LGMD type 2N · LGMD2N · Limb-girdle muscular dystrophy type 2N · POMT2-related LGMD R14
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
A form of limb-girdle muscular dystrophy characterized by proximal weakness (manifesting as slowness in running) presenting in infancy, along with calf hypertrophy, mild lordosis, scapular winging and normal intelligence (or mild intellectual disability).
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | POMT2-related limb-girdle muscular dystrophy R14 | Autosomal recessive limb-girdle muscular dystrophy type 2N · LGMD type 2N · LGMD2N · Limb-girdle muscular dystrophy type 2N · POMT2-related LGMD R14 |
| fr | Dystrophie musculaire des ceintures associée à POMT2 R14 | Dystrophie musculaire des ceintures autosomique récessive type 2N · Dystrophie musculaire des ceintures type 2N · LGMD associée à POMT2 R14 · LGMD type 2N · LGMD2N |
| de | POMT2-assoziierte Gliedergürtelmuskeldystrophie R14 | Gliedergürtelmuskeldystrophie Typ 2N · Gliedergürtelmuskeldystrophie, autosomal-rezessive, Typ 2N · LGMD Typ 2N · LGMD2N · POMT2-assoziierte LGMD R14 |
| es | Distrofia muscular de cinturas R14 asociada a POMT2 | Distrofia muscular de cinturas autosómica recesiva tipo 2N · LGMD2N |
| it | Distrofia muscolare dei cingoli, autosomica recessiva, tipo 2N | LGMD2N |
| nl | POMT2-gerelateerde limb-girdle-spierdystrofie R14 | Autosomaal recessieve bekken- en schoudergordel-spierdystrofie type 2N · Autosomaal recessieve ledemaatgordel-spierdystrofie type 2N · Autosomaal recessieve limb-girdle-spierdystrofie type 2N · LGMD type 2N · LGMD2N · Limb-girdle-spierdystrofie type 2N · POMT2-gerelateerde LGMD R14 |
| pt | Distrofia muscular das cinturas dos membros R14 POMT2-relacionada | Distrofia muscular das cinturas dos membros autossómica recessiva tipo 2N |
| pl | Autosomalna recesywna dystrofia obręczowo-kończynowa typu 2N | LGMD2N |
| cs | Autozomálně recesivní pletencová svalová dystrofie, typ 2N | LGMD2N |
| uk | POMT2-асоційована кінцівково-поясна мязова дистрофія R14 | Аутосомно-рецесивна мязова дистрофія мязів пояса кінцівок, тип 2N · LGMD тип 2N · LGMD2N · Мязова дистрофія мязів поясу кінцівок, тип 2N · LGMD R14, повязаний з POMT2 |
| zh | POMT2基因相关的肢带肌萎缩症R14型 | 常染色体隐性遗传肢带型肌营养不良2N型 |
| tr | POMT2 -ilişkili ekstremite kavşak tip kas distrofisi R14 | LGMD2N · LGMD tipi 2N · POMT2-ilişkili LGMD R14 · Ekstremite-kavşak tipi kas distrofisi tip 2N · Otozomal çekinik ekinik ekstremite-kavşak tipi kas distrofisi tip 2N |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613158 | E | validated | |
| ICD-10 | G71.0 | NTBT | attributed | validated |
| ICD-11 | 8C70.41 | NTBT | attributed | validated |
| MONDO | 0013162 | E | validated | |
| UMLS | C3150418 | 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 (5):
- 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:209033Qualitative or quantitative defects of protein O-mannosyltransferase 2
rare genetic diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
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 |
|---|---|---|---|---|---|---|---|---|
| POMT2 | Disease-causing germline mutation(s) in | Assessed | HGNC:19743 | ENSG00000009830 | 607439 | 14q24.3 | protein O-mannosyltransferase 2 | 20301582[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_17923109[PMID] |
| Cases/families | 1 cases | Worldwide | Case(s) | Validated | 17923109[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
20 annotations · validated 2019-09-16| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003236 | Elevated circulating creatine kinase concentration | |
| HP:0006785 | Limb-girdle muscular dystrophy | |
| HP:0030099 | Reduced muscle fiber alpha dystroglycan | |
| Frequent (79-30%) | ||
| HP:0100543 | Cognitive impairment | |
| HP:0002194 | Delayed gross motor development | |
| HP:0003551 | Difficulty climbing stairs | |
| HP:0030197 | Fatigable weakness of skeletal muscles | |
| HP:0001288 | Gait disturbance | |
| HP:0007126 | Proximal amyotrophy | |
| HP:0001328 | Specific learning disability | |
| Occasional (29-5%) | ||
| HP:0008981 | Calf muscle hypertrophy | |
| HP:0001644 | Dilated cardiomyopathy | |
| HP:0006913 | Frontal cortical atrophy | |
| HP:0001263 | Global developmental delay | |
| HP:0002540 | Inability to walk | |
| HP:0025169 | Left ventricular systolic dysfunction | |
| HP:0011712 | Right bundle branch block | |
| HP:0003691 | Scapular winging | |
| HP:0003697 | Scapuloperoneal amyotrophy | |
| HP:0002119 | Ventriculomegaly | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 29175898[PMID]_17878207[PMID]_20301582[PMID]_17923109[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/206559
- This record as JSON: /data/d/206559.json