Epidermolysis bullosa simplex due to plakophilin deficiency
General Information (adopted from Orphanet):
| Synonyms, Signs: |
mcgrath syndrome Ectodermal dysplasia - skin fragility syndrome |
| Number of Symptoms | 19 |
| OrphanetNr: | 158668 |
| OMIM Id: |
604536
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| ICD-10: |
Q81.0 |
| UMLs: |
C1858302 |
| MeSH: |
C536183 |
| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Ectodermal dysplasia syndrome
-Rare developmental defect during embryogenesis -Rare genetic disease -Rare skin disease Hereditary epidermolysis bullosa associated with ocular features -Rare eye disease -Rare genetic disease Suprabasal epidermolysis bullosa simplex -Rare genetic disease -Rare skin disease |
Symptom Information:
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(HPO:0000498) | Blepharitis | Frequent [Orphanet] | 27 / 7739 | |||
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(HPO:0000606) | Abnormality of the periorbital region | Very frequent [Orphanet] | 96 / 7739 | |||
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(HPO:0000221) | Furrowed tongue | Frequent [Orphanet] | 24 / 7739 | |||
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(HPO:0000534) | Abnormality of the eyebrow | Very frequent [Orphanet] | 39 / 7739 | |||
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(HPO:0002024) | Malabsorption | Frequent [Orphanet] | 142 / 7739 | |||
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(HPO:0004325) | Decreased body weight | Frequent [Orphanet] | 492 / 7739 | |||
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(HPO:0000962) | Hyperkeratosis | Frequent [Orphanet] | 216 / 7739 | |||
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(HPO:0200042) | Skin ulcer | Very frequent [Orphanet] | 138 / 7739 | |||
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(HPO:0002224) | Woolly hair | Occasional [Orphanet] | 26 / 7739 | |||
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(HPO:0001006) | Hypotrichosis | Very frequent [Orphanet] | 219 / 7739 | |||
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(HPO:0000989) | Pruritus | Frequent [Orphanet] | 111 / 7739 | |||
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(HPO:0001597) | Abnormality of the nail | Very frequent [Orphanet] | 115 / 7739 | |||
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(HPO:0200037) | Skin vesicle | Very frequent [Orphanet] | 102 / 7739 | |||
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(HPO:0000958) | Dry skin | Frequent [Orphanet] | 152 / 7739 | |||
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(HPO:0010783) | Erythema | Very frequent [Orphanet] | 138 / 7739 | |||
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(HPO:0000968) | Ectodermal dysplasia | 46 / 7739 | ||||
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(HPO:0001030) | Fragile skin | 25 / 7739 | ||||
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(HPO:0001596) | Alopecia | Very frequent [Orphanet] | 162 / 7739 | |||
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(HPO:0010978) | Abnormality of immune system physiology | Frequent [Orphanet] | 148 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Clinical Description OMIM |
McGrath et al. (1997, 1999) described a boy with a unique skin disorder comprising trauma-induced skin fragility and congenital ectodermal dysplasia affecting hair, nails, and sweat glands. The proband reported by McGrath et al. (1997) was a 6-year-old ... |
| Molecular genetics OMIM |
In a patient with ectodermal dysplasia/skin fragility syndrome, McGrath et al. (1997) identified compound heterozygosity for premature termination codons in the PKP1 gene (601975.0001-601975.0002). In a 17-year-old patient with ectodermal dysplasia/skin fragility syndrome, Whittock et al. ... |