Superficial epidermolytic ichthyosis
General Information (adopted from Orphanet):
| Synonyms, Signs: |
IBS ICHTHYOSIS EXFOLIATIVA, INCLUDED SEI ichthyosis bullosa of siemens |
| Number of Symptoms | 10 |
| OrphanetNr: | 455 |
| OMIM Id: |
146800
|
| ICD-10: |
Q80.8 |
| UMLs: |
C0432306 |
| MeSH: |
D053560 |
| MedDRA: |
|
| Snomed: |
254169002 |
Prevalence, inheritance and age of onset:
| Prevalence: | < 20 cases [Orphanet] |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Keratinopathic ichthyosis
-Rare genetic disease -Rare skin disease |
Symptom Information:
|
|
(HPO:0007475) | Congenital bullous ichthyosiform erythroderma | 4 / 7739 | ||||
|
|
(HPO:0010783) | Erythema | Occasional [Orphanet] | 138 / 7739 | |||
|
|
(HPO:0200037) | Skin vesicle | Very frequent [Orphanet] | 102 / 7739 | |||
|
|
(HPO:0000962) | Hyperkeratosis | Very frequent [Orphanet] | 216 / 7739 | |||
|
|
(HPO:0100792) | Acantholysis | Very frequent [Orphanet] | 11 / 7739 | |||
|
|
(HPO:0008064) | Ichthyosis | Very frequent [Orphanet] | 108 / 7739 | |||
|
|
(HPO:0000963) | Thin skin | Very frequent [Orphanet] | 96 / 7739 | |||
|
|
(HPO:0000969) | Edema | Very frequent [Orphanet] | 117 / 7739 | |||
|
|
(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
|
|
(OMIM) | Bullous ichthyosis | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|