ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4A

General Information (adopted from Orphanet):

Synonyms, Signs: ICHTHYOSIS, LAMELLAR, 2, FORMERLY
ICHTHYOSIS CONGENITA IIB
ARCI4A
LI2, FORMERLY
ICR2B
Number of Symptoms 14
OrphanetNr:
OMIM Id: 601277
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 25 / 7739
2
(HPO:0000707) Abnormality of the nervous system 61 / 7739
3
(HPO:0100760) Clubbing of toes 24 / 7739
4
(HPO:0100759) Clubbing of fingers 40 / 7739
5
(HPO:0001217) Clubbing rare [HPO:skoehler] 39 / 7739
6
(HPO:0001438) Abnormality of the abdomen 28 / 7739
7
(HPO:0000982) Palmoplantar keratoderma 40 / 7739
8
(HPO:0007431) Congenital ichthyosiform erythroderma 17 / 7739
9
(HPO:0001820) Leukonychia rare [HPO:skoehler] 18 / 7739
10
(OMIM) Fine whitish scales (rare) 1 / 7739
11
(OMIM) Ichthyosis, generalized, with involvement of flexural folds 1 / 7739
12
(OMIM) Large adherent dark pigmented scales 1 / 7739
13
(OMIM) Collodion membrane at birth 10 / 7739
14
(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 Parmentier et al. (1996) studied 8 affected individuals from 3 consanguineous Moroccan families with congenital ichthyosis. All patients fulfilled diagnostic criteria for the lamellar form of ichthyosis: collodion baby phenotype at birth, generalized ichthyosis with involvement of the ...
Genotype-Phenotype Correlations OMIM Akiyama (2010) reviewed mutations in the ABCA12 gene and stated that a total of 56 mutations had been reported in 66 ARCI families, including 48 with harlequin ichthyosis (HI), 10 with lamellar ichthyosis (LI), and 8 with ichthyosis ...
Molecular genetics OMIM Lefevre et al. (2003) studied 9 families with ARCI mapping to chromosome 2q33-q35, including 2 Moroccan families originally studied by Parmentier et al. (1996) and 2 Moroccan and 2 Algerian families previously studied by Parmentier et al. (1999), ...