ORPHA:86812
POMT1-related limb-girdle muscular dystrophy R11
Synonyms: Autosomal recessive limb-girdle muscular dystrophy type 2K · LGMD type 2K · LGMD2K · Limb-girdle muscular dystrophy type 2K · Limb-girdle muscular dystrophy-intellectual disability syndrome · POMT1-related LGMD R11
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
A form of limb-girdle muscular dystrophy characterized by the onset of slowly progressive proximal muscle weakness during childhood (with fatigue and difficulty running and climbing stairs) and developmental delay. Mild intellectual deficit and microcephaly, without any obvious structural brain abnormality, are found in all patients. Mild pseudohypertrophy and joint contractures of the ankles have also been reported.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | POMT1-related limb-girdle muscular dystrophy R11 | Autosomal recessive limb-girdle muscular dystrophy type 2K · LGMD type 2K · LGMD2K · Limb-girdle muscular dystrophy type 2K · Limb-girdle muscular dystrophy-intellectual disability syndrome · POMT1-related LGMD R11 |
| fr | Dystrophie musculaire des ceintures associée à POMT1 R11 | Dystrophie musculaire des ceintures autosomique récessive type 2K · Dystrophie musculaire des ceintures type 2K · LGMD associée à POMT1 R11 · LGMD type 2K · LGMD2K · Syndrome de dystrophie musculaire des ceintures-déficience intellectuelle |
| de | POMT1-assoziierte Gliedergürtelmuskeldystrophie R11 | LGMD Typ 2K · LGMD2K · POMT1-assoziierte LGMD R11 · Gliedergürtelmuskeldystrophie Typ 2K · Gliedergürtelmuskeldystrophie, autosomal-rezessive, Typ 2K · Gliedergürtelmuskeldystrophie-Intelligenzminderung-Syndrom |
| es | Distrofia muscular de cinturas R11 asociada a POMT1 | Distrofia muscular de cinturas autosómica recesiva tipo 2K · Distrofia muscular de cinturas tipo 2K · LGMD R11 asociada a POMT1 · LGMD tipo 2K · LGMD2K · Síndrome de distrofia muscular de cinturas-discapacidad intelectual |
| it | Distrofia muscolare dei cingoli R11 correlata a POMT1 | Sindrome distrofia muscolare dei cingoli-disabilità intellettiva · Distrofia muscolare dei cingoli tipo 2K · Distrofia muscolare dei cingoli autosomica recessiva tipo 2K · LGMD2K · LGMD tipo 2K · LGMD R11 correlata a POMT1 |
| nl | POMT1-gerelateerde limb-girdle-spierdystrofie R11 | Autosomaal recessieve bekken- en schoudergordel-spierdystrofie type 2K · Autosomaal recessieve ledemaatgordel-spierdystrofie type 2K · Autosomaal recessieve limb-girdle-spierdystrofie type 2K · LGMD type 2K · LGMD2K · Limb-girdle-spierdystrofie - intellectuele achterstand-syndroom · Limb-girdle-spierdystrofie type 2K · POMT1-gerelateerde LGMD R11 |
| pt | Distrofia muscular das cinturas dos membros R11 POMT1-relacionada | Distrofia muscular das cinturas dos membros autossómica recessiva tipo 2K · Distrofia muscular das cinturas dos membros tipo 2K · LGMD R11 POMT1-relacionada · LGMD tipo 2K · LGMD2K · Síndrome de istrofia muscular das cinturas dos membros-perturbação do desenvolvimento intelectual |
| pl | Autosomalna recesywna dystrofia mięśniowa obręczowo-kończynowa typu 2K | Dystrofia obręczowo-kończynowa- niepełnosprawność intelektualna · LGMD2K |
| cs | Autozomálně recesivní pletencová svalová dystrofie, typ 2K | LGMD2K · Syndrom zahrnující pletencovou svalovou dystrofii a mentální retardaci |
| uk | POMT1-асоційована кінцівково-поясна мязова дистрофія R11 | Аутосомно-рецесивна мязова дистрофія мязів кінцівок, тип 2К · LGMD тип 2K · LGMD2K · Мязова дистрофія скелетних мязів кінцівок, тип 2К · Синдром мязової дистрофії опорно-рухового апарату та інтелектуальної недостатності · LGMD R11, повязаний з POMT1 |
| zh | POMT1相关肢带肌营养不良R11型 | 肢带型肌营养不良-智力障碍综合征 |
| tr | POMT1-ilişkili ekstremite-kavşak tipi kas distrofisi R11 | LGMD2K · LGMD tipi 2K · POMT1-ilgili LGMD R11 · Ekstremite-kavşak tipi kas distrofisi tip 2K · Otozomal Çekinik ekstremite-kavşak tipi kas distrofisi tip 2K · Ekstremite-kavşak tipi kas distrofisi-zihinsel yetersizlik sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 609308 | E | validated | |
| ICD-10 | G71.0 | NTBT | attributed | validated |
| ICD-11 | 8C70.41 | NTBT | attributed | validated |
| MONDO | 0012248 | E | validated | |
| UMLS | C1836373 | 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:209030Qualitative or quantitative defects of protein O-mannosyltransferase 1
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 |
|---|---|---|---|---|---|---|---|---|
| POMT1 | Disease-causing germline mutation(s) in | Assessed | HGNC:9202 | ENSG00000130714 | 607423 | 9q34.13 | protein O-mannosyltransferase 1 | 20301582[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only | Not yet validated | 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
32 annotations · validated 2018-07-16| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003551 | Difficulty climbing stairs | |
| HP:0001288 | Gait disturbance | |
| Frequent (79-30%) | ||
| HP:0008981 | Calf muscle hypertrophy | |
| HP:0003687 | Centrally nucleated skeletal muscle fibers | |
| HP:0000750 | Delayed speech and language development | |
| HP:0003236 | Elevated circulating creatine kinase concentration | |
| HP:0003391 | Gowers sign | |
| HP:0003557 | Increased variability in muscle fiber diameter | |
| HP:0001249 | Intellectual disability | |
| HP:0002938 | Lumbar hyperlordosis | |
| HP:0000252 | Microcephaly | |
| HP:0003560 | Muscular dystrophy | |
| HP:0003701 | Proximal muscle weakness | |
| HP:0003733 | Thigh hypertrophy | |
| HP:0002515 | Waddling gait | |
| Occasional (29-5%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0000729 | Autistic behavior | |
| HP:0001638 | Cardiomyopathy | |
| HP:0012735 | Cough | |
| HP:0002094 | Dyspnea | |
| HP:0003388 | Easy fatigability | |
| HP:0003700 | Generalized amyotrophy | |
| HP:0010794 | Impaired visuospatial constructive cognition | |
| HP:0001712 | Left ventricular hypertrophy | |
| HP:0003325 | Limb-girdle muscle weakness | |
| HP:0003198 | Myopathy | |
| HP:0001319 | Neonatal hypotonia | |
| HP:0002098 | Respiratory distress | |
| HP:0002650 | Scoliosis | |
| HP:0003306 | Spinal rigidity | |
| HP:0031108 | Triceps weakness | |
| HP:0003803 | Type 1 muscle fiber predominance | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 14678799[PMID]_20065251[PMID]_22549409[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/86812
- This record as JSON: /data/d/86812.json