POGLUT1-related limb-girdle muscular dystrophy R21
Synonyms: Autosomal recessive limb-girdle muscular dystrophy type 2Z · LGMD type 2Z · LGMD2Z · Limb-girdle muscular dystrophy type 2Z · POGLUT1-related LGMD R21
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adult
- Status
- active
A rare autosomal recessive limb-girdle muscular dystrophy characterized by adult onset of progressive muscle weakness and atrophy in the proximal upper and lower limbs, leading to scapular winging and loss of independent ambulation. Respiratory function may become impaired in the course of the disease. Fatty degeneration of internal regions of thigh muscles sparing external areas has been reported, as well as a reduction of alpha-dystroglycan in muscle biopsies.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | POGLUT1-related limb-girdle muscular dystrophy R21 | Autosomal recessive limb-girdle muscular dystrophy type 2Z · LGMD type 2Z · LGMD2Z · Limb-girdle muscular dystrophy type 2Z · POGLUT1-related LGMD R21 |
| fr | Dystrophie musculaire des ceintures associée à POGLUT1 R21 | Dystrophie musculaire des ceintures autosomique récessive type 2Z · Dystrophie musculaire des ceintures type 2Z · LGMD associée à POGLUT1 R21 · LGMD type 2Z · LGMD2Z |
| de | POGLUT1-assoziierte Gliedergürtelmuskeldystrophie R21 | Gliedergürtelmuskeldystrophie Typ 2Z · Gliedergürtelmuskeldystrophie, autosomal-dominante, Typ 2Z · LGMD Typ 2Z · LGMD2Z · POGLUT1-assoziierte LGMD R21 |
| es | Distrofia muscular de cinturas R21 asociada a POGLUT1 | Distrofia muscular de cinturas autosómica recesiva tipo 2Z · LGMD2Z |
| it | Distrofia muscolare dei cingoli R21 correlata a POGLUT1 | |
| nl | POGLUT1-gerelateerde limb-girdle-spierdystrofie R21 | Autosomaal recessieve bekken- en schoudergordel-spierdystrofie type 2Z · Autosomaal recessieve ledemaatgordel-spierdystrofie type 2Z · Autosomaal recessieve limb-girdle-spierdystrofie type 2Z · LGMD type 2Z · LGMD2Z · Limb-girdle musculaire dystrofie type 2Z · POGLUT1-gerelateerde LGMD R21 |
| pt | Distrofia muscular das cinturas dos membros R21 POGLUT1-relacionada | Distrofia muscular das cinturas dos membros autossómica recessiva tipo 2Z |
| pl | Autosomalna recesywna dystrofia obręczowo-kończynowa typu 2Z | LGMD2Z |
| cs | Autozomálně recesivní pletencová svalová dystrofie, typ 2Z | LGMD2Z |
| uk | POGLUT1-асоційована кінцівково-поясна мязова дистрофія R21 | Аутосомно-рецесивна мязова дистрофія мязів пояса кінцівок, тип 2Z · LGMD тип 2Z · LGMD2Z · Мязова дистрофія мязів поясу кінцівок, тип 2Z · LGMD R21, повязаний з POGLUT1 |
| zh | POGLUT1相关肢肌营养不良R21型 | 常染色体隐性肢肌营养不良2Z型 |
| tr | POGLUT1 -ilişkili ekstremite-kuşak kas distrofisi R21 | LGMD2Z · LGMD tip 2Z · POGLUT1-ilişkili LGMD R21 · Ekstremite-kavşak kas distrofisi tip 2Z · Otozomal çekinik ekstremite-kavşak kas distrofisi tip 2Z |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617232 | E | validated | |
| ICD-10 | G71.0 | NTBT | attributed | validated |
| ICD-11 | 8C70.41 | NTBT | attributed | validated |
| MONDO | 0014977 | E | validated | |
| MONDO | 14977 | E | validated | |
| UMLS | C4310660 | 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 (2):
- ORPHA:102015Autosomal recessive limb-girdle muscular dystrophy
rare genetic diseases; rare neurological diseases - ORPHA:309450Disorder of O-xylosylglycan synthesis
rare inborn errors of metabolism; rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| POGLUT1 | Disease-causing germline mutation(s) in | Assessed | HGNC:22954 | ENSG00000163389 | 615618 | 3q13.33 | protein O-glucosyltransferase 1 | 27807076[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 27807076[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27807076[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/480682
- This record as JSON: /data/d/480682.json