ORPHA:363623
GMPPB-related limb-girdle muscular dystrophy R19
Synonyms: Autosomal recessive limb-girdle muscular dystrophy type 2T · GMPPB-related LGMD R19 · LGMD type 2T · LGMD2T · Limb-girdle muscular dystrophy type 2T
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
A form of limb-girdle muscular dystrophy, that can present from birth to early childhood, characterized by hypotonia, microcephaly, mild proximal muscle weakness (leading to delayed walking and difficulty climbing stairs), mild intellectual disability and epilepsy. Additional manifestations reported in some patients include cataracts, nystagmus, cardiomyopathy, and respiratory insufficiency.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | GMPPB-related limb-girdle muscular dystrophy R19 | Autosomal recessive limb-girdle muscular dystrophy type 2T · GMPPB-related LGMD R19 · LGMD type 2T · LGMD2T · Limb-girdle muscular dystrophy type 2T |
| fr | Dystrophie musculaire des ceintures associée à GMPPB R19 | Dystrophie musculaire des ceintures autosomique récessive type 2T · Dystrophie musculaire des ceintures type 2T · LGMD associée à GMPPB R19 · LGMD type 2T · LGMD2T |
| de | GMPPB-assoziierte Gliedergürtelmuskeldystrophie R19 | GMPPB-assoziierte LGMD R19 · Gliedergürtelmuskeldystrophie Typ 2T · Gliedergürtelmuskeldystrophie, autosomal-rezessive, Typ 2T · LGMD Typ 2T · LGMD2T |
| es | Distrofia muscular de cinturas R19 asociada a GMPPB | Distrofia muscular de cinturas autosómica recesiva tipo 2T · LGMD2T |
| it | Distrofia muscolare dei cingoli autosomica recessiva, tipo 2T | LGMD2T |
| nl | GMPPB-gerelateerde limb-girdle-spierdystrofie R19 | Autosomaal recessieve limb-girdle-spierdystrofie type 2T · GMPPB-gerelateerde LGMD R19 · LGMD type 2T · LGMD2T · Limb-girdle-spierdystrofie type 2T · Autosomaal recessieve bekken- en schoudergordel-spierdystrofie type 2T · Autosomaal recessieve ledemaatgordel-spierdystrofie type 2T |
| pt | Distrofia muscular das cinturas dos membros R19 GMPPB-relacionada | Distrofia muscular das cinturas dos membros autossómica recessiva tipo 2T |
| pl | Autosomalna recesywna dystrofia obręczowo-kończynowa typu 2T | LGMD2T |
| cs | Autozomálně recesivní pletencová svalová dystrofie, typ 2T | LGMD2T |
| uk | GMPPB-асоційована кінцівково-поясна мязова дистрофія R19 | Аутосомно-рецесивна мязова дистрофія скелетних мязів кінцівок, тип 2Т · LGMD R19, повязаний з GMPPB · LGMD тип 2T · LGMD2T · Мязова дистрофія мязів поясу кінцівок, тип 2Т |
| zh | GMPPB基因相关肢带型肌营养不良R19型 | 常染色体隐性遗传性肢带型肌营养不良2T型 |
| tr | GMPPB-ilişkili ekstremite-kuşak kas distrofisi R19 | LGMD2T · LGMD tip 2T · GMPPB-related LGMD R19 · Ekstremite-kavşak tipi kas distrofisi tip 2T · Otozomal çekinik ekstremite-kavşak kas distrofisi tip 2T |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615352 | E | validated | |
| ICD-10 | G71.0 | NTBT | attributed | validated |
| ICD-11 | 8C70.41 | NTBT | attributed | validated |
| MONDO | 0014142 | E | validated | |
| UMLS | C4518000 | 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 (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:309469Disorder of O-mannosylglycan synthesis
rare inborn errors of metabolism; rare genetic diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GMPPB | Disease-causing germline mutation(s) in | Assessed | HGNC:22932 | ENSG00000173540 | 615320 | 3p21.31 | GDP-mannose pyrophosphorylase B | 23768512[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 23768512[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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
25 annotations · validated 2018-06-28| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0003551 | Difficulty climbing stairs | |
| HP:0003236 | Elevated circulating creatine kinase concentration | |
| HP:0001263 | Global developmental delay | |
| HP:0001252 | Hypotonia | |
| HP:0001249 | Intellectual disability | |
| HP:0001250 | Seizure | |
| Occasional (29-5%) | ||
| HP:0003327 | Axial muscle weakness | |
| HP:0001638 | Cardiomyopathy | |
| HP:0000518 | Cataract | |
| HP:0100543 | Cognitive impairment | |
| HP:0006698 | Dilatation of the ventricular cavity | |
| HP:0009053 | Distal lower limb muscle weakness | |
| HP:0008959 | Distal upper limb muscle weakness | |
| HP:0003403 | EMG: decremental response of compound muscle action potential to repetitive nerve stimulation | |
| HP:0003388 | Easy fatigability | |
| HP:0003546 | Exercise intolerance | |
| HP:0030192 | Fatigable weakness of bulbar muscles | |
| HP:0007340 | Lower limb muscle weakness | |
| HP:0000252 | Microcephaly | |
| HP:0003394 | Muscle spasm | |
| HP:0001324 | Muscle weakness | |
| HP:0000467 | Neck muscle weakness | |
| HP:0000639 | Nystagmus | |
| HP:0008997 | Proximal muscle weakness in upper limbs | |
| HP:0002093 | Respiratory insufficiency | |
Annotation source: 23768512[PMID]_26133662[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/363623
- This record as JSON: /data/d/363623.json