Congenital non-bullous ichthyosiform erythroderma

General Information (adopted from Orphanet):

Synonyms, Signs: CIE
Non-bullous congenital ichthyosiform erythroderma
Erythrodermic ichthyosis
Number of Symptoms 13
OrphanetNr: 79394
OMIM Id: 242100
606545
612281
615022
615023
615024
ICD-10: Q80.2
UMLs: C0079154
MeSH:
MedDRA:
Snomed: 267372009

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: Autosomal recessive congenital ichthyosis
 -Rare genetic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0000492) Abnormality of the eyelid Very frequent [Orphanet] 41 / 7739
2
 (HPO:0100533) Inflammatory abnormality of the eye Frequent [Orphanet] 70 / 7739
3
 (HPO:0000481) Abnormality of the cornea Frequent [Orphanet] 124 / 7739
4
 (HPO:0000365) Hearing impairment Frequent [Orphanet] 539 / 7739
5
 (HPO:0004325) Decreased body weight Frequent [Orphanet] 492 / 7739
6
 (HPO:0004322) Short stature Occasional [Orphanet] 1232 / 7739
7
 (HPO:0008064) Ichthyosis Very frequent [Orphanet] 108 / 7739
8
 (HPO:0000989) Pruritus Very frequent [Orphanet] 111 / 7739
9
 (HPO:0001596) Alopecia Frequent [Orphanet] 162 / 7739
10
 (HPO:0001597) Abnormality of the nail Frequent [Orphanet] 115 / 7739
11
 (HPO:0000962) Hyperkeratosis Frequent [Orphanet] 216 / 7739
12
 (HPO:0010783) Erythema Very frequent [Orphanet] 138 / 7739
13
 (HPO:0004370) Abnormality of temperature regulation Very frequent [Orphanet] 58 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: