MCID: ICH040
MIFTS: 28

Ichthyosis, Congenital, Autosomal Recessive 4a

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

Aliases & Classifications for Ichthyosis, Congenital, Autosomal Recessive 4a

MalaCards integrated aliases for Ichthyosis, Congenital, Autosomal Recessive 4a:

Name: Ichthyosis, Congenital, Autosomal Recessive 4a 57 75 13
Autosomal Recessive Congenital Ichthyosis 4a 12 29 6 15
Ichthyosis Congenita Iib 57 12 75
Arci4a 57 12 75
Icr2b 57 12 75
Lamellar Ichthyosis 2 12 75
Ichthyosis, Congenital, Autosomal Recessive, Type 4a 40
Ichthyosis, Lamellar, 2, Formerly; Li2, Formerly 57
Ichthyosis, Lamellar, 2, Formerly 57
Ichthyosis Congenita Iib; Icr2b 57
Li2, Formerly 57
Li2 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
ichthyosis, congenital, autosomal recessive 4a:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 601277
Disease Ontology 12 DOID:0060712
ICD10 33 Q80.2
MedGen 42 C1832550
MeSH 44 D017490

Summaries for Ichthyosis, Congenital, Autosomal Recessive 4a

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 general phenotypic description and discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 (242300). (601277)

MalaCards based summary : Ichthyosis, Congenital, Autosomal Recessive 4a, also known as autosomal recessive congenital ichthyosis 4a, is related to ichthyosis lamellar 2 and ichthyosis, congenital, autosomal recessive 4b. An important gene associated with Ichthyosis, Congenital, Autosomal Recessive 4a is ABCA12 (ATP Binding Cassette Subfamily A Member 12). Affiliated tissues include skin, and related phenotypes are ectropion and abnormality of the nervous system

Disease Ontology : 12 An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis and ectropion that has material basis in homozygous or compound hetrezogyous mutation in the ABCA12 gene on chromosome 2q35.

UniProtKB/Swiss-Prot : 75 Ichthyosis, congenital, autosomal recessive 4A: 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.

Related Diseases for Ichthyosis, Congenital, Autosomal Recessive 4a

Graphical network of the top 20 diseases related to Ichthyosis, Congenital, Autosomal Recessive 4a:



Diseases related to Ichthyosis, Congenital, Autosomal Recessive 4a

Symptoms & Phenotypes for Ichthyosis, Congenital, Autosomal Recessive 4a

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
ectropion

Skin Nails Hair Nails:
clubbing (rare)
leukonychia (rare)

Skin Nails Hair Skin:
collodion membrane at birth
ichthyosis, generalized, with involvement of flexural folds
large adherent dark pigmented scales
fine whitish scales (rare)
palmoplantar keratoderma


Clinical features from OMIM:

601277

Human phenotypes related to Ichthyosis, Congenital, Autosomal Recessive 4a:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 ectropion 32 HP:0000656
2 abnormality of the nervous system 32 HP:0000707
3 palmoplantar keratoderma 32 HP:0000982
4 clubbing 32 occasional (7.5%) HP:0001217
5 abnormality of abdomen morphology 32 HP:0001438
6 leukonychia 32 occasional (7.5%) HP:0001820
7 congenital ichthyosiform erythroderma 32 HP:0007431

Drugs & Therapeutics for Ichthyosis, Congenital, Autosomal Recessive 4a

Search Clinical Trials , NIH Clinical Center for Ichthyosis, Congenital, Autosomal Recessive 4a

Genetic Tests for Ichthyosis, Congenital, Autosomal Recessive 4a

Genetic tests related to Ichthyosis, Congenital, Autosomal Recessive 4a:

# Genetic test Affiliating Genes
1 Autosomal Recessive Congenital Ichthyosis 4a 29 ABCA12

Anatomical Context for Ichthyosis, Congenital, Autosomal Recessive 4a

MalaCards organs/tissues related to Ichthyosis, Congenital, Autosomal Recessive 4a:

41
Skin

Publications for Ichthyosis, Congenital, Autosomal Recessive 4a

Variations for Ichthyosis, Congenital, Autosomal Recessive 4a

UniProtKB/Swiss-Prot genetic disease variations for Ichthyosis, Congenital, Autosomal Recessive 4a:

75 (show all 12)
# Symbol AA change Variation ID SNP ID
1 ABCA12 p.Asn1380Ser VAR_019598 rs28940269
2 ABCA12 p.Gly1381Glu VAR_019599 rs28940268
3 ABCA12 p.Arg1514His VAR_019600 rs28940270
4 ABCA12 p.Glu1539Lys VAR_019601 rs28940271
5 ABCA12 p.Gly1651Ser VAR_019602 rs28940568
6 ABCA12 p.Thr345Pro VAR_067075
7 ABCA12 p.Gly1136Asp VAR_067077
8 ABCA12 p.Trp1235Ser VAR_067079
9 ABCA12 p.Ile1494Thr VAR_067080
10 ABCA12 p.Gly1559Val VAR_067081
11 ABCA12 p.Pro1798Leu VAR_067082 rs181314573
12 ABCA12 p.Thr1980Lys VAR_067083

ClinVar genetic disease variations for Ichthyosis, Congenital, Autosomal Recessive 4a:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ABCA12 NM_173076.2(ABCA12): c.4142G> A (p.Gly1381Glu) single nucleotide variant Pathogenic rs28940268 GRCh37 Chromosome 2, 215851287: 215851287
2 ABCA12 NM_173076.2(ABCA12): c.4142G> A (p.Gly1381Glu) single nucleotide variant Pathogenic rs28940268 GRCh38 Chromosome 2, 214986563: 214986563
3 ABCA12 NM_173076.2(ABCA12): c.4139A> G (p.Asn1380Ser) single nucleotide variant Pathogenic rs28940269 GRCh37 Chromosome 2, 215851290: 215851290
4 ABCA12 NM_173076.2(ABCA12): c.4139A> G (p.Asn1380Ser) single nucleotide variant Pathogenic rs28940269 GRCh38 Chromosome 2, 214986566: 214986566
5 ABCA12 NM_173076.2(ABCA12): c.4951G> A (p.Gly1651Ser) single nucleotide variant Pathogenic rs28940568 GRCh37 Chromosome 2, 215843554: 215843554
6 ABCA12 NM_173076.2(ABCA12): c.4951G> A (p.Gly1651Ser) single nucleotide variant Pathogenic rs28940568 GRCh38 Chromosome 2, 214978830: 214978830
7 ABCA12 NM_173076.2(ABCA12): c.4541G> A (p.Arg1514His) single nucleotide variant Pathogenic rs28940270 GRCh37 Chromosome 2, 215846949: 215846949
8 ABCA12 NM_173076.2(ABCA12): c.4541G> A (p.Arg1514His) single nucleotide variant Pathogenic rs28940270 GRCh38 Chromosome 2, 214982225: 214982225
9 ABCA12 NM_173076.2(ABCA12): c.4615G> A (p.Glu1539Lys) single nucleotide variant Pathogenic rs28940271 GRCh37 Chromosome 2, 215845332: 215845332
10 ABCA12 NM_173076.2(ABCA12): c.4615G> A (p.Glu1539Lys) single nucleotide variant Pathogenic rs28940271 GRCh38 Chromosome 2, 214980608: 214980608

Expression for Ichthyosis, Congenital, Autosomal Recessive 4a

Search GEO for disease gene expression data for Ichthyosis, Congenital, Autosomal Recessive 4a.

Pathways for Ichthyosis, Congenital, Autosomal Recessive 4a

GO Terms for Ichthyosis, Congenital, Autosomal Recessive 4a

Biological processes related to Ichthyosis, Congenital, Autosomal Recessive 4a according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 keratinization GO:0031424 8.96 ABCA12 TGM1
2 keratinocyte differentiation GO:0030216 8.62 ABCA12 TGM1

Sources for Ichthyosis, Congenital, Autosomal Recessive 4a

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....