MCID: ICH038
MIFTS: 29

Ichthyosis, Congenital, Autosomal Recessive 3

Categories: Genetic diseases, Skin diseases, Rare diseases, Fetal diseases

Aliases & Classifications for Ichthyosis, Congenital, Autosomal Recessive 3

MalaCards integrated aliases for Ichthyosis, Congenital, Autosomal Recessive 3:

Name: Ichthyosis, Congenital, Autosomal Recessive 3 57 75 13 73
Autosomal Recessive Congenital Ichthyosis 3 12 29 6
Arci3 57 12 75
Lamellar Ichthyosis 5 12 75
Ichthyosis, Congenital, Autosomal Recessive, Type 3 40
Ichthyosis, Lamellar, 5, Formerly; Li5, Formerly 57
Ichthyosis, Lamellar, 5, Formerly 57
Collodion Baby, Self-Healing 57
Self-Healing Collodion Baby 75
Li5, Formerly 57
Li5 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
affected individuals have a relatively mild ichthyosis phenotype


HPO:

32
ichthyosis, congenital, autosomal recessive 3:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Ichthyosis, Congenital, Autosomal Recessive 3

OMIM : 57 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 main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur (summary by Fischer, 2009). Neither histopathologic findings nor ultrastructural features clearly distinguish between NCIE and LI. In addition, mutations in several genes have been shown to cause both lamellar and nonbullous ichthyosiform erythrodermal phenotypes (Akiyama et al., 2003). At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass LI, NCIE, and harlequin ichthyosis (ARCI4B; 242500) (Oji et al., 2010). NCIE is characterized by prominent erythroderma and fine white, superficial, semiadherent scales. Most patients present with collodion membrane at birth and have palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. In half of the cases, a nail dystrophy including ridging, subungual hyperkeratosis, or hypoplasia has been described. Ectropion, eclabium, scalp involvement, and loss of eyebrows and lashes seem to be more frequent in NCIE than in lamellar ichthyosis (summary by Fischer et al., 2000). In LI, the scales are large, adherent, dark, and pigmented with no skin erythema. Overlapping phenotypes may depend on the age of the patient and the region of the body. The terminal differentiation of the epidermis is perturbed in both forms, leading to a reduced barrier function and defects of lipid composition in the stratum corneum (summary by Lefevre et al., 2006). In later life, the skin in ARCI may have scales that cover the entire body surface, including the flexural folds, and the scales are highly variable in size and color. Erythema may be very mild and almost invisible. Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by Eckl et al., 2005). For a discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 (242300). (606545)

MalaCards based summary : Ichthyosis, Congenital, Autosomal Recessive 3, also known as autosomal recessive congenital ichthyosis 3, is related to acral self-healing collodion baby and ichthyosis, congenital, autosomal recessive 1. An important gene associated with Ichthyosis, Congenital, Autosomal Recessive 3 is ALOXE3 (Arachidonate Lipoxygenase 3). Affiliated tissues include skin, and related phenotypes are ectropion and hypohidrosis

UniProtKB/Swiss-Prot : 75 Ichthyosis, congenital, autosomal recessive 3: A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs.

Disease Ontology : 12 An autosomal recessive congenital ichthyosis characterized by mild ichthyosis, fine scales on the scalp, face, trunk and limbs, dark brown adherent scales on the neck, elbow and knees, and hypohydrosis that has material basis in homozygous or compound heterozygous mutation in the ALOXE3 gene on chromosome 17p13.

Related Diseases for Ichthyosis, Congenital, Autosomal Recessive 3

Symptoms & Phenotypes for Ichthyosis, Congenital, Autosomal Recessive 3

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
ectropion (in some patients)

Skin Nails Hair Skin:
collodion membrane at birth (in most patients)
collodion membrane, self-healing (in some patients)
erythema, mild to moderate (in some patients)
fine white or light brown scales on scalp, face, trunk, and limbs
dark brown, hard, adherent scales on neck, elbows, and knees
more
Head And Neck Mouth:
eclabium (in some patients)


Clinical features from OMIM:

606545

Human phenotypes related to Ichthyosis, Congenital, Autosomal Recessive 3:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 ectropion 32 occasional (7.5%) HP:0000656
2 hypohidrosis 32 HP:0000966
3 palmoplantar keratoderma 32 occasional (7.5%) HP:0000982
4 congenital nonbullous ichthyosiform erythroderma 32 HP:0007479
5 erythema 32 occasional (7.5%) HP:0010783
6 eclabion 32 occasional (7.5%) HP:0012472

Drugs & Therapeutics for Ichthyosis, Congenital, Autosomal Recessive 3

Search Clinical Trials , NIH Clinical Center for Ichthyosis, Congenital, Autosomal Recessive 3

Genetic Tests for Ichthyosis, Congenital, Autosomal Recessive 3

Genetic tests related to Ichthyosis, Congenital, Autosomal Recessive 3:

# Genetic test Affiliating Genes
1 Autosomal Recessive Congenital Ichthyosis 3 29 ALOXE3

Anatomical Context for Ichthyosis, Congenital, Autosomal Recessive 3

MalaCards organs/tissues related to Ichthyosis, Congenital, Autosomal Recessive 3:

41
Skin

Publications for Ichthyosis, Congenital, Autosomal Recessive 3

Articles related to Ichthyosis, Congenital, Autosomal Recessive 3:

# Title Authors Year
1
Acral self-healing collodion baby. ( 28735267 )
2017
2
Two Cases of Autosomal Recessive Congenital Ichthyosis due to CYP4F22 Mutations: Expanding the Genotype of Self-Healing Collodion Baby. ( 26646773 )
2016
3
Acral self-healing collodion baby: A case series. ( 28492026 )
2016
4
Novel TGM1 Missense Mutation p.Arg727Gln in a Case of Self-healing Collodion Baby. ( 24419105 )
2014
5
Genotype-phenotype correlations with TGM1: clustering of mutations in the bathing suit ichthyosis and self-healing collodion baby variants of lamellar ichthyosis. ( 19863506 )
2010
6
Self-healing collodion baby. ( 20334876 )
2010
7
Acral self-healing collodion baby: report of a new clinical phenotype caused by a novel TGM1 mutation. ( 19500103 )
2009
8
Self-healing collodion baby: a dynamic phenotype explained by a particular transglutaminase-1 mutation. ( 12542526 )
2003
9
Koraxitrachitic syndrome: a syndromic form of self-healing collodion baby with residual dappled atrophy of the derma. ( 10508988 )
1999
10
Self-healing collodion baby: evidence for autosomal recessive inheritance. ( 1603745 )
1992

Variations for Ichthyosis, Congenital, Autosomal Recessive 3

UniProtKB/Swiss-Prot genetic disease variations for Ichthyosis, Congenital, Autosomal Recessive 3:

75
# Symbol AA change Variation ID SNP ID
1 ALOXE3 p.Arg396Ser VAR_015175 rs121434234
2 ALOXE3 p.Val500Phe VAR_015176 rs121434232
3 ALOXE3 p.Leu237Met VAR_069561 rs121434235
4 ALOXE3 p.Gly281Val VAR_069562 rs786205120
5 ALOXE3 p.Leu427Pro VAR_069564
6 ALOXE3 p.Pro630Leu VAR_069565 rs147149459

ClinVar genetic disease variations for Ichthyosis, Congenital, Autosomal Recessive 3:

6
(show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 ALOXE3 NM_001165960.1(ALOXE3): c.1894G> T (p.Val632Phe) single nucleotide variant Pathogenic rs121434232 GRCh37 Chromosome 17, 8012556: 8012556
2 ALOXE3 NM_001165960.1(ALOXE3): c.1894G> T (p.Val632Phe) single nucleotide variant Pathogenic rs121434232 GRCh38 Chromosome 17, 8109238: 8109238
3 ALOXE3 NM_021628.2(ALOXE3): c.700C> T (p.Arg234Ter) single nucleotide variant Pathogenic rs121434233 GRCh37 Chromosome 17, 8015495: 8015495
4 ALOXE3 NM_021628.2(ALOXE3): c.700C> T (p.Arg234Ter) single nucleotide variant Pathogenic rs121434233 GRCh38 Chromosome 17, 8112177: 8112177
5 ALOXE3 NM_001165960.1(ALOXE3): c.1582C> A (p.Arg528Ser) single nucleotide variant Pathogenic rs121434234 GRCh37 Chromosome 17, 8013529: 8013529
6 ALOXE3 NM_001165960.1(ALOXE3): c.1582C> A (p.Arg528Ser) single nucleotide variant Pathogenic rs121434234 GRCh38 Chromosome 17, 8110211: 8110211
7 ALOXE3 NM_001165960.1(ALOXE3): c.1238G> T (p.Gly413Val) single nucleotide variant Pathogenic rs786205120 GRCh38 Chromosome 17, 8111474: 8111474
8 ALOXE3 NM_001165960.1(ALOXE3): c.1238G> T (p.Gly413Val) single nucleotide variant Pathogenic rs786205120 GRCh37 Chromosome 17, 8014792: 8014792
9 ALOXE3 ALOXE3, PRO630LEU single nucleotide variant Pathogenic
10 ALOXE3 ALOXE3, ARG145HIS single nucleotide variant Pathogenic
11 ALOXE3 ALOXE3, LEU427PRO single nucleotide variant Pathogenic
12 ALOXE3 NC_000017.11: g.8017293_8022591del5299 deletion Pathogenic GRCh38 Chromosome 17, 8017293: 8022591
13 ALOXE3 NM_021628.2(ALOXE3): c.418C> T (p.Arg140Ter) single nucleotide variant Pathogenic rs370031870 GRCh37 Chromosome 17, 8018941: 8018941
14 ALOXE3 NM_021628.2(ALOXE3): c.418C> T (p.Arg140Ter) single nucleotide variant Pathogenic rs370031870 GRCh38 Chromosome 17, 8115623: 8115623

Expression for Ichthyosis, Congenital, Autosomal Recessive 3

Search GEO for disease gene expression data for Ichthyosis, Congenital, Autosomal Recessive 3.

Pathways for Ichthyosis, Congenital, Autosomal Recessive 3

GO Terms for Ichthyosis, Congenital, Autosomal Recessive 3

Sources for Ichthyosis, Congenital, Autosomal Recessive 3

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