ORPHA:369840
TRAPPC11-related limb-girdle muscular dystrophy R18
Synonyms: Autosomal recessive limb-girdle muscular dystrophy type 2S · LGMD type 2S · LGMD2S · Limb-girdle muscular dystrophy type 2S · TRAPPC11-related LGMD R18
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- active
A form of limb-girdle muscular dystrophy characterized by childhood-onset of progressive proximal muscle weakness (leading to reduced ambulation) with myalgia and fatigue, in addition to infantile hyperkinetic movements, truncal ataxia, and intellectual disability. Additional manifestations include scoliosis, hip dysplasia, and less commonly, ocular features (e.g. myopia, cataract) and seizures.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | TRAPPC11-related limb-girdle muscular dystrophy R18 | Autosomal recessive limb-girdle muscular dystrophy type 2S · LGMD type 2S · LGMD2S · Limb-girdle muscular dystrophy type 2S · TRAPPC11-related LGMD R18 |
| fr | Dystrophie musculaire des ceintures associée à TRAPPC11 R18 | Dystrophie musculaire des ceintures autosomique récessive type 2S · Dystrophie musculaire des ceintures type 2S · LGMD associée à TRAPPC11 R18 · LGMD type 2S · LGMD2S |
| de | TRAPPC11-assoziierte Gliedergürtelmuskeldystrophie R18 | Gliedergürtelmuskeldystrophie Typ 2S · Gliedergürtelmuskeldystrophie, autosomal-rezessive, Typ 2S · LGMD Typ 2S · LGMD2S · TRAPPC11-assoziierte LGMD R18 |
| es | Distrofia muscular de cinturas R18 asociada a TRAPPC11 | Distrofia muscular de cinturas autosómica recesiva tipo 2S · LGMD2S |
| it | Distrofia muscolare dei cingoli autosomica recessiva, tipo 2S | LGMD2S |
| nl | TRAPPC11-gerelateerde limb-girdle-spierdystrofie R18 | Autosomaal recessieve bekken- en schoudergordel-spierdystrofie type 2S · Autosomaal recessieve ledemaatgordel-spierdystrofie type 2S · Autosomaal recessieve limb-girdle-spierdystrofie type 2S · LGMD type 2S · LGMD2S · Limb-girdle-spierdystrofie type 2S · TRAPPC11-gerelateerde LGMD R18 |
| pt | Distrofia muscular das cinturas dos membros R18 TRAPPC11-relacionada | Distrofia muscular das cinturas dos membros autossómica recessiva tipo 2S |
| pl | Autosomalna recesywna dystrofia obręczowo-kończynowa typu 2S | LGMD2S |
| cs | Autozomálně recesivní pletencová svalová dystrofie, typ 2S | LGMD2S |
| uk | TRAPPC11-асоційована кінцівково-поясна мязова дистрофія R18 | Автосомно-рецесивна мязова дистрофія скелетних мязів кінцівок, тип 2S · LGMD тип 2S · LGMD2S · Мязова дистрофія мязів поясу кінцівок, тип 2S · LGMD R18, повязаний з TRAPPC11 |
| zh | TRAPPC11基因相关肢带肌营养不良症R18型 | 常染色体隐性遗传性肢带型肌营养不良2S型 |
| tr | TRAPPC11-ilişkili ekstremite-kuşak kas distrofisi R18 | LGMD2S · LGMD tip 2S · TRAPPC11-ilişkili LGMD R18 · Ekstremite-kavşak tipi kas distrofisi tip 2S · Otozomal çekinik ekstremite-kavşak kas distrofisi tip 2S |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615356 | E | validated | |
| ICD-10 | G71.0 | NTBT | attributed | validated |
| MONDO | 0014144 | E | validated | |
| UMLS | C4517996 | 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 (1):
- ORPHA:102015Autosomal recessive limb-girdle muscular dystrophy
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 |
|---|---|---|---|---|---|---|---|---|
| TRAPPC11 | Disease-causing germline mutation(s) in | Assessed | HGNC:25751 | ENSG00000168538 | 614138 | 4q35.1 | trafficking protein particle complex subunit 11 | 23830518[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 23830518[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
27 annotations · validated 2018-09-05| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0040081 | Abnormal circulating creatine kinase concentration | |
| HP:0001344 | Absent speech | |
| HP:0000518 | Cataract | |
| HP:0012762 | Cerebral white matter atrophy | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0001288 | Gait disturbance | |
| HP:0002240 | Hepatomegaly | |
| HP:0003307 | Hyperlordosis | |
| HP:0001265 | Hyporeflexia | |
| HP:0006889 | Intellectual disability, borderline | |
| HP:0006785 | Limb-girdle muscular dystrophy | |
| HP:0100295 | Muscle fiber atrophy | |
| HP:0003394 | Muscle spasm | |
| HP:0003560 | Muscular dystrophy | |
| HP:0003326 | Myalgia | |
| HP:0003198 | Myopathy | |
| HP:0003701 | Proximal muscle weakness | |
| HP:0002515 | Waddling gait | |
| Occasional (29-5%) | ||
| HP:0002069 | Bilateral tonic-clonic seizure | |
| HP:0002072 | Chorea | |
| HP:0025313 | Exophoria | |
| HP:0008947 | Floppy infant | |
| HP:0001397 | Hepatic steatosis | |
| HP:0000252 | Microcephaly | |
| HP:0002078 | Truncal ataxia | |
| Excluded (0%) | ||
| HP:0002091 | Restrictive ventilatory defect | |
| HP:0005133 | Right ventricular dilatation | |
Annotation source: 26322222[PMID]_23830518[PMID]_27862579[PMID]_27707803[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/369840
- This record as JSON: /data/d/369840.json