ICHTHYOSIS VULGARIS

General Information (adopted from Orphanet):

Synonyms, Signs: ICHTHYOSIS SIMPLEX
Number of Symptoms 5
OrphanetNr:
OMIM Id: 146700
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000976) Eczematoid dermatitis frequent [HPO:skoehler] 22 / 7739
2
(HPO:0008064) Ichthyosis 108 / 7739
3
(HPO:0002099) Asthma frequent [HPO:skoehler] 62 / 7739
4
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
5
(OMIM) Ichthyosis simplex 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Ichthyosis is one of the most frequent single-gene disorders in humans. The most widely cited incidence figure is 1 in 250 based on a survey of 6,051 healthy English schoolchildren (Wells and Kerr, 1966). The phenotypic characteristics of ...
Molecular genetics OMIM Smith et al. (2006) analyzed the filaggrin gene in 7 unrelated ichthyosis vulgaris patients and 8 sporadic cases, based on linkage and histologic evidence presented by Compton et al. (2002) and Zhong et al. (2003). In 1 family ...