Congenital lethal erythroderma
General Information (adopted from Orphanet):
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Synonyms, Signs:
|
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Number of Symptoms
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12
|
|
OrphanetNr:
|
1954
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OMIM Id:
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227090
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|
ICD-10:
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L26
|
|
UMLs:
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C1856898
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|
MeSH:
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C535513
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MedDRA:
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Snomed:
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Prevalence, inheritance and age of onset:
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Prevalence:
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17
cases
[Orphanet]
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|
Inheritance:
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Autosomal recessive
[Orphanet]
|
|
Age of onset:
|
Neonatal
[Orphanet]
|
Disease classification (adopted from Orphanet):
|
Parent Diseases:
|
Unclassified genetic skin disease
-Rare genetic disease
-Rare skin disease
|
|
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|
|
|
|
|
|
|
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1
|
(HPO:0002024)
|
Malabsorption |
Very frequent [Orphanet]
|
|
|
|
142 / 7739
|
|
2
|
(HPO:0004325)
|
Decreased body weight |
Very frequent [Orphanet]
|
|
|
|
492 / 7739
|
|
3
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
4
|
(HPO:0010783)
|
Erythema |
Very frequent [Orphanet]
|
|
|
|
138 / 7739
|
|
5
|
(HPO:0007381)
|
Congenital exfoliative erythroderma |
|
|
|
|
1 / 7739
|
|
6
|
(HPO:0008064)
|
Ichthyosis |
Very frequent [Orphanet]
|
|
|
|
108 / 7739
|
|
7
|
(HPO:0000958)
|
Dry skin |
Very frequent [Orphanet]
|
|
|
|
152 / 7739
|
|
8
|
(HPO:0001025)
|
Urticaria |
Very frequent [Orphanet]
|
|
|
|
73 / 7739
|
|
9
|
(HPO:0003073)
|
Hypoalbuminemia |
|
|
|
|
40 / 7739
|
|
10
|
(HPO:0002093)
|
Respiratory insufficiency |
Very frequent [Orphanet]
|
|
|
|
410 / 7739
|
|
11
|
(HPO:0001522)
|
Death in infancy |
Very frequent [Orphanet]
|
|
|
|
275 / 7739
|
|
12
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
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2538 / 7739
|
ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |