MCID: ICH049
MIFTS: 42

Ichthyosis, Congenital, Autosomal Recessive 2

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

Aliases & Classifications for Ichthyosis, Congenital, Autosomal Recessive 2

MalaCards integrated aliases for Ichthyosis, Congenital, Autosomal Recessive 2:

Name: Ichthyosis, Congenital, Autosomal Recessive 2 57 75 13 73
Autosomal Recessive Congenital Ichthyosis 2 12 29 6
Arci2 57 12 75
Ncie1 12 75
Ichthyosiform Erythroderma, Nonbullous Congenital, 1, Formerly; Ncie1, Formerly 57
Ichthyosiform Erythroderma, Brocq Congenital, Nonbullous Form, Formerly 57
Ichthyosiform Erythroderma, Nonbullous Congenital, 1, Formerly 57
Ichthyosiform Erythroderma Brocq Congenital Non-Bullous Form 75
Brocq Congenital Ichthyosiform Erythroderma Nonbullous Form 12
Non-Bullous Congenital Ichthyosiform Erythroderma Type 1 75
Ichthyosiform Erythroderma, Congenital, Nonbullous, 1 73
Ichthyosis, Congenital, Autosomal Recessive, Type 2 40
Nonbullous Congenital Ichthyosiform Erythroderma 1 12
Ichthyosiform Erythroderma, Congenital 75
Ichthyosiform Erythroderma Congenital 55
Collodion Baby, Self-Healing 57
Self-Healing Collodion Baby 75
Ncie1, Formerly 57
Iecn1 75
Cie 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
ichthyosis, congenital, autosomal recessive 2:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Ichthyosis, Congenital, Autosomal Recessive 2

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). (242100)

MalaCards based summary : Ichthyosis, Congenital, Autosomal Recessive 2, also known as autosomal recessive congenital ichthyosis 2, is related to self-improving collodion baby and ichthyosis, congenital, autosomal recessive 1. An important gene associated with Ichthyosis, Congenital, Autosomal Recessive 2 is ALOX12B (Arachidonate 12-Lipoxygenase, 12R Type), and among its related pathways/superpathways are Keratinization and Prostaglandin 2 biosynthesis and metabolism FM. Affiliated tissues include skin, and related phenotypes are intellectual disability and palmoplantar keratoderma

UniProtKB/Swiss-Prot : 75 Ichthyosis, congenital, autosomal recessive 2: 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 fine scales on the scalp, face, trunk and limbs, marked palmoplantar hyperlinearity, hyperkeratosis, acanthosis, mild hypergranulosis and thickened stratum corneum that has material basis in homozygous or compound heterozygous mutation in the ALOX12B gene on chromosome 17p13.

Related Diseases for Ichthyosis, Congenital, Autosomal Recessive 2

Diseases in the Ichthyosis family:

Ichthyosis, Congenital, Autosomal Recessive 2 Ichthyosis, Congenital, Autosomal Recessive 1
Ichthyosis, Congenital, Autosomal Recessive 4b Ichthyosis, Congenital, Autosomal Recessive 4a
Ichthyosis, Congenital, Autosomal Recessive 11 Ichthyosis, Congenital, Autosomal Recessive 5
Ichthyosis, Congenital, Autosomal Recessive 3 Ichthyosis, Congenital, Autosomal Recessive 6
Ichthyosis, Congenital, Autosomal Recessive 8 Ichthyosis, Congenital, Autosomal Recessive 7
Ichthyosis, Congenital, Autosomal Recessive 9 Ichthyosis, Congenital, Autosomal Recessive 10
Ichthyosis, Congenital, Autosomal Recessive 12 Ichthyosis, Congenital, Autosomal Recessive 14
Ichthyosis, Congenital, Autosomal Recessive 13 Autosomal Recessive Congenital Ichthyosis
Ichthyosis, Acquired

Diseases related to Ichthyosis, Congenital, Autosomal Recessive 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 16)
# Related Disease Score Top Affiliating Genes
1 self-improving collodion baby 31.4 ALOX12B ALOXE3 TGM1
2 ichthyosis, congenital, autosomal recessive 1 30.8 ALOX12B ALOXE3 SULT2B1 TGM1
3 congenital ichthyosiform erythroderma 28.0 ALOX12B ALOXE3 LOR SPINK5 SULT2B1 TGM1
4 acral self-healing collodion baby 12.7
5 ichthyosis, congenital, autosomal recessive 3 11.8
6 bubonic plague 9.9
7 cholera 9.9
8 plague 9.9
9 vohwinkel syndrome 9.4 LOR TGM1
10 ichthyosis vulgaris 9.3 LOR TGM1
11 dermatitis, atopic 9.2 LOR SPINK5
12 netherton syndrome 9.1 SPINK5 TGM1
13 ichthyosis, congenital, autosomal recessive 4b 9.0 ALOX12B ALOXE3 TGM1
14 autosomal recessive congenital ichthyosis 8.5 ALOX12B ALOXE3 SULT2B1 TGM1
15 skin disease 8.3 ALOX12B LOR SPINK5 TGM1
16 ichthyosis 7.2 ALOX12B ALOXE3 LOR SPINK5 SULT2B1 TGM1

Graphical network of the top 20 diseases related to Ichthyosis, Congenital, Autosomal Recessive 2:



Diseases related to Ichthyosis, Congenital, Autosomal Recessive 2

Symptoms & Phenotypes for Ichthyosis, Congenital, Autosomal Recessive 2

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Skin Histology:
hyperkeratosis
acanthosis
thickened stratum corneum
hypergranulosis, mild

Head And Neck Eyes:
ectropion (in some patients)

Skeletal Hands:
hypoplastic fingers (in some cases)

Skin Nails Hair Skin:
collodion membrane at birth (in some 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
larger and darker scales on neck, elbows, and knees (in some patients)
more
Skin Nails Hair Hair:
alopecia, mild diffuse (rare)

Skin Nails Hair Nails:
hypoplastic nails (in some patients)
thin nails (rare)

Head And Neck Mouth:
eclabium (in some patients)

Skeletal Feet:
hypoplastic toes (in some cases)

Skin Nails Hair Skin Electron Microscopy:
cornified cell envelope


Clinical features from OMIM:

242100

Human phenotypes related to Ichthyosis, Congenital, Autosomal Recessive 2:

32 (show all 19)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 palmoplantar keratoderma 32 HP:0000982
3 everted lower lip vermilion 32 occasional (7.5%) HP:0000232
4 hypohidrosis 32 hallmark (90%) HP:0000966
5 growth delay 32 HP:0001510
6 alopecia 32 occasional (7.5%) HP:0001596
7 short toe 32 occasional (7.5%) HP:0001831
8 small nail 32 occasional (7.5%) HP:0001792
9 paralysis 32 HP:0003470
10 erythema 32 occasional (7.5%) HP:0010783
11 abnormality of the hair 32 HP:0001595
12 short finger 32 occasional (7.5%) HP:0009381
13 ectropion 32 occasional (7.5%) HP:0000656
14 congenital nonbullous ichthyosiform erythroderma 32 HP:0007479
15 thin nail 32 occasional (7.5%) HP:0001816
16 external genital hypoplasia 32 HP:0003241
17 congenital ichthyosiform erythroderma 32 HP:0007431
18 epidermal acanthosis 32 HP:0025092
19 hypergranulosis 32 HP:0025114

MGI Mouse Phenotypes related to Ichthyosis, Congenital, Autosomal Recessive 2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 8.92 ALOX12B ALOXE3 SPINK5 TGM1

Drugs & Therapeutics for Ichthyosis, Congenital, Autosomal Recessive 2

Search Clinical Trials , NIH Clinical Center for Ichthyosis, Congenital, Autosomal Recessive 2

Genetic Tests for Ichthyosis, Congenital, Autosomal Recessive 2

Genetic tests related to Ichthyosis, Congenital, Autosomal Recessive 2:

# Genetic test Affiliating Genes
1 Autosomal Recessive Congenital Ichthyosis 2 29 ALOX12B ALOXE3

Anatomical Context for Ichthyosis, Congenital, Autosomal Recessive 2

MalaCards organs/tissues related to Ichthyosis, Congenital, Autosomal Recessive 2:

41
Skin

Publications for Ichthyosis, Congenital, Autosomal Recessive 2

Articles related to Ichthyosis, Congenital, Autosomal Recessive 2:

# 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 2

UniProtKB/Swiss-Prot genetic disease variations for Ichthyosis, Congenital, Autosomal Recessive 2:

75 (show all 18)
# Symbol AA change Variation ID SNP ID
1 ALOX12B p.Leu426Pro VAR_015173 rs137853023
2 ALOX12B p.His578Gln VAR_015174 rs137853024
3 ALOX12B p.Leu24Pro VAR_069545 rs201575829
4 ALOX12B p.Ile67Phe VAR_069546 rs397514533
5 ALOX12B p.Arg114Trp VAR_069547 rs397514526
6 ALOX12B p.Pro127Ser VAR_069548 rs72842957
7 ALOX12B p.Phe195Leu VAR_069549 rs200516538
8 ALOX12B p.Tyr318Cys VAR_069550
9 ALOX12B p.Lys382Glu VAR_069551
10 ALOX12B p.Thr383Met VAR_069552 rs760428119
11 ALOX12B p.Asn416Lys VAR_069553 rs1039399607Ichthyosis,
12 ALOX12B p.Gly462Asp VAR_069554 rs774958790
13 ALOX12B p.Arg488His VAR_069555 rs763468558
14 ALOX12B p.Tyr521Cys VAR_069556 rs199766569
15 ALOX12B p.Val527Met VAR_069557 rs199545653
16 ALOX12B p.Ala597Glu VAR_069558 rs752509098
17 ALOX12B p.Ala664Pro VAR_069559
18 ALOX12B p.Arg679Leu VAR_069560 rs397514528

ClinVar genetic disease variations for Ichthyosis, Congenital, Autosomal Recessive 2:

6
(show all 33)
# Gene Variation Type Significance SNP ID Assembly Location
1 ALOX12B NM_001139.2(ALOX12B): c.1387delT (p.Phe463Leufs) deletion Pathogenic rs387906349 GRCh37 Chromosome 17, 7979638: 7979638
2 ALOX12B NM_001139.2(ALOX12B): c.1387delT (p.Phe463Leufs) deletion Pathogenic rs387906349 GRCh38 Chromosome 17, 8076320: 8076320
3 ALOX12B NM_001139.2(ALOX12B): c.1277T> C (p.Leu426Pro) single nucleotide variant Pathogenic rs137853023 GRCh37 Chromosome 17, 7980060: 7980060
4 ALOX12B NM_001139.2(ALOX12B): c.1277T> C (p.Leu426Pro) single nucleotide variant Pathogenic rs137853023 GRCh38 Chromosome 17, 8076742: 8076742
5 ALOX12B NM_001139.2(ALOX12B): c.1734C> A (p.His578Gln) single nucleotide variant Pathogenic rs137853024 GRCh37 Chromosome 17, 7976996: 7976996
6 ALOX12B NM_001139.2(ALOX12B): c.1734C> A (p.His578Gln) single nucleotide variant Pathogenic rs137853024 GRCh38 Chromosome 17, 8073678: 8073678
7 ALOX12B NM_001139.2(ALOX12B): c.340C> T (p.Arg114Trp) single nucleotide variant Pathogenic rs397514526 GRCh37 Chromosome 17, 7989346: 7989346
8 ALOX12B NM_001139.2(ALOX12B): c.340C> T (p.Arg114Trp) single nucleotide variant Pathogenic rs397514526 GRCh38 Chromosome 17, 8086028: 8086028
9 ALOX12B NM_001139.2(ALOX12B): c.2036G> T (p.Arg679Leu) single nucleotide variant Pathogenic rs397514528 GRCh37 Chromosome 17, 7976159: 7976159
10 ALOX12B NM_001139.2(ALOX12B): c.2036G> T (p.Arg679Leu) single nucleotide variant Pathogenic rs397514528 GRCh38 Chromosome 17, 8072841: 8072841
11 ALOX12B NM_001139.2(ALOX12B): c.1180G> A (p.Glu394Lys) single nucleotide variant Pathogenic rs397514529 GRCh37 Chromosome 17, 7980403: 7980403
12 ALOX12B NM_001139.2(ALOX12B): c.1180G> A (p.Glu394Lys) single nucleotide variant Pathogenic rs397514529 GRCh38 Chromosome 17, 8077085: 8077085
13 ALOX12B NM_001139.2(ALOX12B): c.1207C> T (p.His403Tyr) single nucleotide variant Pathogenic rs397514531 GRCh37 Chromosome 17, 7980376: 7980376
14 ALOX12B NM_001139.2(ALOX12B): c.1207C> T (p.His403Tyr) single nucleotide variant Pathogenic rs397514531 GRCh38 Chromosome 17, 8077058: 8077058
15 ALOX12B ALOX12B, IVS2, G-A, -1 single nucleotide variant Pathogenic
16 ALOX12B NM_001139.2(ALOX12B): c.1642C> T (p.Arg548Trp) single nucleotide variant Pathogenic rs397514532 GRCh37 Chromosome 17, 7978925: 7978925
17 ALOX12B NM_001139.2(ALOX12B): c.1642C> T (p.Arg548Trp) single nucleotide variant Pathogenic rs397514532 GRCh38 Chromosome 17, 8075607: 8075607
18 ALOX12B NM_001139.2(ALOX12B): c.1562A> G (p.Tyr521Cys) single nucleotide variant Pathogenic rs199766569 GRCh37 Chromosome 17, 7979005: 7979005
19 ALOX12B NM_001139.2(ALOX12B): c.1562A> G (p.Tyr521Cys) single nucleotide variant Pathogenic rs199766569 GRCh38 Chromosome 17, 8075687: 8075687
20 ALOX12B NM_001139.2(ALOX12B): c.199A> T (p.Ile67Phe) single nucleotide variant Pathogenic rs397514533 GRCh37 Chromosome 17, 7989487: 7989487
21 ALOX12B NM_001139.2(ALOX12B): c.199A> T (p.Ile67Phe) single nucleotide variant Pathogenic rs397514533 GRCh38 Chromosome 17, 8086169: 8086169
22 ALOX12B NM_001139.2(ALOX12B): c.1579G> A (p.Val527Met) single nucleotide variant Likely pathogenic rs199545653 GRCh38 Chromosome 17, 8075670: 8075670
23 ALOX12B NM_001139.2(ALOX12B): c.1579G> A (p.Val527Met) single nucleotide variant Likely pathogenic rs199545653 GRCh37 Chromosome 17, 7978988: 7978988
24 SULT2B1 NM_177973.1(SULT2B1): c.71+2T> A single nucleotide variant Pathogenic rs1114167426 GRCh37 Chromosome 19, 49055582: 49055582
25 SULT2B1 NM_177973.1(SULT2B1): c.71+2T> A single nucleotide variant Pathogenic rs1114167426 GRCh38 Chromosome 19, 48552325: 48552325
26 SULT2B1 NM_177973.1(SULT2B1): c.364dup (p.Met122Asnfs) duplication Pathogenic rs1114167425 GRCh37 Chromosome 19, 49090635: 49090635
27 SULT2B1 NM_177973.1(SULT2B1): c.364dup (p.Met122Asnfs) duplication Pathogenic rs1114167425 GRCh38 Chromosome 19, 48587378: 48587378
28 SULT2B1 NM_177973.1(SULT2B1): c.821G> A (p.Arg274Gln) single nucleotide variant Pathogenic rs762765702 GRCh37 Chromosome 19, 49100171: 49100171
29 SULT2B1 NM_177973.1(SULT2B1): c.821G> A (p.Arg274Gln) single nucleotide variant Pathogenic rs762765702 GRCh38 Chromosome 19, 48596914: 48596914
30 ALOX12B NM_001139.2(ALOX12B): c.527+2T> G single nucleotide variant Likely pathogenic GRCh38 Chromosome 17, 8080882: 8080882
31 ALOX12B NM_001139.2(ALOX12B): c.527+2T> G single nucleotide variant Likely pathogenic GRCh37 Chromosome 17, 7984200: 7984200
32 ALOX12B NM_001139.2(ALOX12B): c.353-2A> G single nucleotide variant Likely pathogenic rs775524204 GRCh38 Chromosome 17, 8081189: 8081189
33 ALOX12B NM_001139.2(ALOX12B): c.353-2A> G single nucleotide variant Likely pathogenic rs775524204 GRCh37 Chromosome 17, 7984507: 7984507

Expression for Ichthyosis, Congenital, Autosomal Recessive 2

Search GEO for disease gene expression data for Ichthyosis, Congenital, Autosomal Recessive 2.

Pathways for Ichthyosis, Congenital, Autosomal Recessive 2

Pathways related to Ichthyosis, Congenital, Autosomal Recessive 2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.59 LOR SPINK5 TGM1
2 9.98 ALOX12B ALOXE3

GO Terms for Ichthyosis, Congenital, Autosomal Recessive 2

Cellular components related to Ichthyosis, Congenital, Autosomal Recessive 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.1 ALOX12B ALOXE3 LOR SPINK5 SULT2B1 TGM1
2 cornified envelope GO:0001533 8.96 LOR TGM1

Biological processes related to Ichthyosis, Congenital, Autosomal Recessive 2 according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.67 ALOX12B ALOXE3 SULT2B1
2 fatty acid metabolic process GO:0006631 9.51 ALOX12B ALOXE3
3 keratinocyte differentiation GO:0030216 9.48 LOR TGM1
4 peptide cross-linking GO:0018149 9.46 LOR TGM1
5 sphingolipid metabolic process GO:0006665 9.43 ALOX12B ALOXE3
6 ceramide biosynthetic process GO:0046513 9.4 ALOX12B ALOXE3
7 arachidonic acid metabolic process GO:0019369 9.37 ALOX12B ALOXE3
8 establishment of skin barrier GO:0061436 9.32 ALOX12B ALOXE3
9 linoleic acid metabolic process GO:0043651 9.26 ALOX12B ALOXE3
10 lipoxygenase pathway GO:0019372 9.16 ALOX12B ALOXE3
11 cornification GO:0070268 9.13 LOR SPINK5 TGM1
12 hepoxilin biosynthetic process GO:0051122 8.62 ALOX12B ALOXE3

Molecular functions related to Ichthyosis, Congenital, Autosomal Recessive 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 iron ion binding GO:0005506 9.16 ALOX12B ALOXE3
2 dioxygenase activity GO:0051213 8.96 ALOX12B ALOXE3
3 oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen GO:0016702 8.62 ALOX12B ALOXE3

Sources for Ichthyosis, Congenital, Autosomal Recessive 2

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