ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3

General Information (adopted from Orphanet):

Synonyms, Signs: LI5, FORMERLY
ICHTHYOSIS, LAMELLAR, 5, FORMERLY
COLLODION BABY, SELF-HEALING
ARCI3
Number of Symptoms 6
OrphanetNr:
OMIM Id: 606545
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000656) Ectropion rare [HPO:skoehler] 25 / 7739
2
(HPO:0012472) Eclabion rare [HPO:skoehler] 7 / 7739
3
(HPO:0007479) Congenital nonbullous ichthyosiform erythroderma 13 / 7739
4
(HPO:0000962) Hyperkeratosis 216 / 7739
5
(HPO:0000966) Hypohidrosis 41 / 7739
6
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. The ...
Clinical Description OMIM Krebsova et al. (2001) studied a German family in which 4 children were similarly affected with a mild form of congenital ichthyosis characterized by small, light brown, adherent scales on the scalp, mild scaling on the face, and ...
Genotype-Phenotype Correlations OMIM Eckl et al. (2005) performed detailed clinical characterization of affected individuals from 17 ARCI families with mutations in the ALOXE3 or ALOX12B genes and concluded that LOX mutations lead to typical but mild ARCI phenotypes, with fine white ...
Molecular genetics OMIM In affected individuals from 3 consanguineous families, 1 Turkish, 1 French, and 1 of North African origin, with congenital ichthyosis mapping to chromosome 17p13.1. Jobard et al. (2002) identified homozygosity for 1 nonsense and 2 missense mutations in ...