ORPHA:257
Epidermolysis bullosa simplex with muscular dystrophy
Synonyms: EBS with muscular dystrophy · EBS-MD · Limb-girdle muscular dystrophy with epidermolysis bullosa simplex
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A form of epidermolysis bullosa simplex (EBS) characterized by generalized blistering associated with muscular dystrophy.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Epidermolysis bullosa simplex with muscular dystrophy | EBS with muscular dystrophy · EBS-MD · Limb-girdle muscular dystrophy with epidermolysis bullosa simplex |
| fr | Epidermolyse bulleuse simple avec dystrophie musculaire | Dystrophie musculaire des ceintures associée à une épidermolyse bulleuse · EBS avec dystrophie musculaire · EBS-MD |
| de | Epidermolysis bullosa simplex mit Muskeldystrophie | EBS-MD · Gliedergürtelmuskeldystrophie mit Epidermolysis bullosa simplex |
| es | Epidermólisis ampollosa simple con distrofia muscular | Distrofia muscular de cinturas con epidermólisis ampollosa simple · EBS con distrofia muscular · Epidermólisis bullosa simple con distrofia muscular |
| it | Epidermolisi bollosa semplice con distrofia muscolare | Distrofia dei cingoli con epidermolisi bollosa semplice · EBS con distrofia muscolare · EBS-MD |
| nl | Epidermolysis bullosa simplex met spierdystrofie | EBS met spierdystrofie · EBS-MD · Limb-girdle-spierdystrofie met epidermolysis bullosa simplex |
| pt | Epidermólise bolhosa simples com distrofia muscular | Distrofia muscular das cinturas com epidermólise bolhosa simples · EBS-MD |
| pl | Postać prosta pęcherzowego oddzielania się naskórka z dystrofią mięśniową | Dystrofia obręczowo-kończynowa z prostą postacią pęcherzowego oddzielania się naskórka |
| cs | Epidermolysis bullosa simplex se svalovou dystrofií | EBS-MD · Pletencová svalová dystrofie s epidermolysis bullosa simplex |
| uk | Простий бульозний епідермоліз з мязовою дистрофією | EBS з мязовою дистрофією · EBS-MD · Дистрофія мязів поясу кінцівок з простим бульозним епідермолізом |
| zh | 单纯性大疱性表皮松解症伴肌肉萎缩 | 肢带肌营养不良伴单纯大疱性表皮松解症 |
| tr | Kas distrofisi ile seyreden epidermolizis bülloza simpleks | EBS-MD · Epidermoliz bülloza simpleks ile seyreden ekstremite kavşak tip kas distrofisi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 226670 | E | validated | |
| ICD-10 | Q81.0 | NTBT | attributed | validated |
| ICD-11 | EC30 | NTBT | index | validated |
| MONDO | 0009181 | E | validated | |
| UMLS | C2931072 | E | validated | |
| GARD | 2137 | 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 (6):
- ORPHA:595351Epidermolysis bullosa simplex with extracutaneous involvement
rare genetic diseases; rare skin diseases - ORPHA:206644Progressive muscular dystrophy
rare genetic diseases; rare neurological diseases - ORPHA:209196Qualitative or quantitative defects of plectin
rare genetic diseases - ORPHA:139027Rare developmental defect with skin/mucosae involvement
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:519288Rare disorder with corneal involvement as a major feature
rare ophthalmic disorders - ORPHA:522558Rare genetic disorder with corneal involvement as a major feature
rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PLEC | Disease-causing germline mutation(s) in | Assessed | HGNC:9069 | ENSG00000178209 | 601282 | 8q24.3 | plectin | 20052759[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 40 cases | Worldwide | Case(s) | Validated | [EXPERT] | |
| 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
19 annotations · validated 2017-07-26| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001596 | Alopecia | |
| HP:0002381 | Aphasia | |
| HP:0010529 | Echolalia | |
| HP:0001812 | Hyperconvex fingernails | |
| HP:0001804 | Hypoplastic fingernail | |
| HP:0010547 | Muscle flaccidity | |
| HP:0002300 | Mutism | |
| HP:0003198 | Myopathy | |
| HP:0012246 | Oculomotor nerve palsy | |
| HP:0000597 | Ophthalmoparesis | |
| HP:0000602 | Ophthalmoplegia | |
| HP:0200037 | Skin vesicle | |
| Frequent (79-30%) | ||
| HP:0000682 | Abnormality of dental enamel | |
| HP:0008065 | Aplasia/Hypoplasia of the skin | |
| HP:0004334 | Dermal atrophy | |
| HP:0200034 | Papule | |
| HP:0000508 | Ptosis | |
| Occasional (29-5%) | ||
| HP:0003473 | Fatigable weakness | |
| HP:0012378 | Fatigue | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/257
- This record as JSON: /data/d/257.json