ORPHA:158668
Ectodermal dysplasia-skin fragility syndrome
Synonyms: McGrath syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized superficial erosions and less commonly blistering.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ectodermal dysplasia-skin fragility syndrome | McGrath syndrome |
| fr | Syndrome de dysplasie ectodermique-fragilité cutanée | Syndrome de McGrath |
| de | Ektodermale Dysplasie-Hautfragilität-Syndrom | McGrath-Syndrom |
| es | Síndrome de displasia ectodérmica-fragilidad cutánea | Síndrome de McGrath |
| it | Sindrome da displasia ectodermica e fragilità cutanea | Sindrome di McGrath · Sindrome displasia ectodermica-fragilità cutanea |
| nl | Ectodermale dysplasie - fragiliteit van huid-syndroom | Syndroom van McGrath |
| pt | Síndrome de displasia ectodérmica-fragilidade cutânea | EBS-PD · Síndrome McGrath · Síndrome de displasia ectodérmica - fragilidade cutânea |
| pl | Zespół dysplazji ektodermalnej i wrażliwej skóry | Zespół dysplazja ektodermalna - krucha skóra · Zespół McGratha · Zespół dysplazja ektodermalna-krucha skóra |
| cs | Prostá bulózní epidermolýza s deficitem plakofilinu | Syndrom zahrnující ektodermální dysplázii a fragilní kůži · McGrathův syndrom |
| uk | Синдром ектодермальної дисплазії-уразливості шкіри | Синдром Макграта |
| zh | 斑菲素蛋白缺乏单纯性大疱性表皮松解症 | 外胚层发育不良-皮肤脆性综合征 |
| tr | Plakofilin eksikliğine bağlı epidermolizis bülloza simpleks | McGrath sendromu · Ektodermal displazi-cilt kırılganlık sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 604536 | E | validated | |
| ICD-10 | Q81.0 | NTBT | attributed | validated |
| ICD-11 | EC30 | NTBT | index | validated |
| MeSH | C536183 | E | validated | |
| UMLS | C1858302 | E | validated | |
| GARD | 9705 | 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:79373Ectodermal dysplasia syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PKP1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:9023 | ENSG00000081277 | 601975 | 1q32.1 | plakophilin 1 | 19945625[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | 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
26 annotations · validated 2021-03-12| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001030 | Fragile skin | |
| HP:0008404 | Nail dystrophy | |
| HP:0000982 | Palmoplantar keratoderma | |
| Frequent (79-30%) | ||
| HP:0002289 | Alopecia universalis | |
| HP:0040181 | Chapped lip | |
| HP:0001508 | Failure to thrive | |
| HP:0001288 | Gait disturbance | |
| HP:0000966 | Hypohidrosis | |
| HP:0040189 | Scaling skin | |
| HP:0008070 | Sparse hair | |
| Occasional (29-5%) | ||
| HP:0008066 | Abnormal blistering of the skin | |
| HP:0006482 | Abnormal dental morphology | |
| HP:0030809 | Abnormal tongue morphology | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0005218 | Anoperineal fistula | |
| HP:0000670 | Carious teeth | |
| HP:0100825 | Cheilitis | |
| HP:0002028 | Chronic diarrhea | |
| HP:0007502 | Follicular hyperkeratosis | |
| HP:0000989 | Pruritus | |
| HP:0006532 | Recurrent pneumonia | |
| HP:0001581 | Recurrent skin infections | |
| HP:0100699 | Scarring | |
| HP:0100806 | Sepsis | |
| HP:0004322 | Short stature | |
| HP:0012227 | Urethral stricture | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 32248567[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/158668
- This record as JSON: /data/d/158668.json