ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2

General Information (adopted from Orphanet):

Synonyms, Signs: NCIE1, FORMERLY
ICHTHYOSIFORM ERYTHRODERMA, NONBULLOUS CONGENITAL, 1, FORMERLY
ICHTHYOSIFORM ERYTHRODERMA, BROCQ CONGENITAL, NONBULLOUS FORM, FORMERLY
COLLODION BABY, SELF-HEALING
ARCI2
Number of Symptoms 21
OrphanetNr:
OMIM Id: 242100
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:0012472) Eclabion 7 / 7739
2
(HPO:0000656) Ectropion 25 / 7739
3
(HPO:0001831) Short toe 52 / 7739
4
(HPO:0009381) Short finger 45 / 7739
5
(HPO:0007500) Decreased number of sweat glands 6 / 7739
6
(HPO:0001792) Small nail 55 / 7739
7
(HPO:0000956) Acanthosis nigricans 54 / 7739
8
(HPO:0000962) Hyperkeratosis 216 / 7739
9
(HPO:0000966) Hypohidrosis 41 / 7739
10
(HPO:0001816) Thin nail 11 / 7739
11
(OMIM) Palmoplantar hyperlinearity, marked 1 / 7739
12
(OMIM) Palmoplantar keratoderma, mild 2 / 7739
13
(OMIM) Thickened stratum corneum 3 / 7739
14
(OMIM) Alopecia, mild diffuse (rare) 1 / 7739
15
(OMIM) Fine white or light brown scales on scalp, face, trunk, and limbs 1 / 7739
16
(OMIM) Collodion membrane at birth 10 / 7739
17
(OMIM) Erythema, mild to moderate (in some patients) 1 / 7739
18
(OMIM) Cornified cell envelope 1 / 7739
19
(OMIM) Hypergranulosis, mild 1 / 7739
20
(OMIM) Larger and darker scales on neck, elbows, and knees (in some patients) 1 / 7739
21
(OMIM) Collodion membrane, self-healing (in some patients) 1 / 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 Jobard et al. (2002) studied 6 consanguineous families (3 Turkish, 2 North African, 1 French) with congenital ichthyosis mapping to chromosome 17p. All affected individuals were born as collodion babies, and all had features consistent with nonbullous ichthyosiform ...
Genotype-Phenotype Correlations OMIM Eckl et al. (2005) performed detailed clinical characterization of affected individuals from 17 ARCI families with mutations in the ALOX12B or ALOXE3 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 with congenital ichthyosis mapping to chromosome 17p13.1, one of North African origin and 2 of Turkish origin, Jobard et al. (2002) identified homozygosity for a 1-bp deletion and 2 missense mutations ...