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 54 71 13 69
Self-Healing Collodion Baby 56 71 69
Autosomal Recessive Congenital Ichthyosis 2 12 29
Arci2 12 71
Ncie1 12 71
Ichthyosiform Erythroderma Brocq Congenital Non-Bullous Form 71
Brocq Congenital Ichthyosiform Erythroderma Nonbullous Form 12
Non-Bullous Congenital Ichthyosiform Erythroderma Type 1 71
Ichthyosiform Erythroderma, Congenital, Nonbullous, 1 69
Nonbullous Congenital Ichthyosiform Erythroderma 1 12
Ichthyosiform Erythroderma, Congenital 71
Ichthyosiform Erythroderma Congenital 52
Iecn1 71
Shcb 56
Cie 71

Characteristics:

Orphanet epidemiological data:

56
self-healing collodion baby
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

54
Inheritance:
autosomal recessive


HPO:

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


Classifications:

Orphanet: 56  
Rare skin diseases


Summaries for Ichthyosis, Congenital, Autosomal Recessive 2

OMIM : 54
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 self-healing collodion baby, is related to ichthyosis, congenital, autosomal recessive 3 and acral self-healing collodion baby, and has symptoms including ichthyosis, limitation of joint mobility and palmoplantar keratoderma. 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. The drugs Antibodies and Antibodies, Monoclonal have been mentioned in the context of this disorder. Affiliated tissues include skin.

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.

UniProtKB/Swiss-Prot : 71 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.

Related Diseases for Ichthyosis, Congenital, Autosomal Recessive 2

Diseases in the Ichthyosis family:

Ichthyosis, Congenital, Autosomal Recessive 4a Ichthyosis, Congenital, Autosomal Recessive 4b
Ichthyosis, Congenital, Autosomal Recessive 6 Ichthyosis, Congenital, Autosomal Recessive 10
Ichthyosis, Congenital, Autosomal Recessive 8 Ichthyosis, Congenital, Autosomal Recessive 11
Ichthyosis, Congenital, Autosomal Recessive 7 Ichthyosis, Congenital, Autosomal Recessive 13
Ichthyosis, Congenital, Autosomal Recessive 1 Ichthyosis, Congenital, Autosomal Recessive 9
Ichthyosis, Congenital, Autosomal Recessive 2 Ichthyosis, Congenital, Autosomal Recessive 3
Ichthyosis, Congenital, Autosomal Recessive 5 Ichthyosis, Congenital, Autosomal Recessive 12
Ichthyosis, Congenital, Autosomal Recessive 14 Autosomal Recessive Congenital Ichthyosis
Ichthyosis, Acquired Abca12-Related Autosomal Recessive Congenital Ichthyosis
Alox12b-Related Autosomal Recessive Congenital Ichthyosis Aloxe3-Related Autosomal Recessive Congenital Ichthyosis
Cyp4f22-Related Autosomal Recessive Congenital Ichthyosis Lipn-Related Autosomal Recessive Congenital Ichthyosis
Pnpla1-Related Autosomal Recessive Congenital Ichthyosis St14-Related Autosomal Recessive Congenital Ichthyosis
Tgm1-Related Autosomal Recessive Congenital Ichthyosis

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

(show all 19)
id Related Disease Score Top Affiliating Genes
1 ichthyosis, congenital, autosomal recessive 3 28.1 ALOX12B ALOXE3 LOR NIPAL4 SPINK5 SULT2B1
2 acral self-healing collodion baby 12.6
3 congenital ichthyosiform erythroderma 11.6
4 ichthyosis, congenital, autosomal recessive 1 11.4
5 autosomal recessive congenital ichthyosis 10.8
6 ichthyosis 10.2
7 bubonic plague 9.8
8 cholera 9.8
9 plague 9.8
10 roussy-levy syndrome 9.8 LOR TGM1
11 keratoderma, palmoplantar, with deafness 9.6 LOR TGM1
12 ichthyosis vulgaris 9.4 LOR TGM1
13 diastrophic dysplasia 9.4 SPINK5 TGM1
14 amyotrophic lateral sclerosis 19 9.0 ALOX12B ALOXE3 NIPAL4 TGM1
15 small non-cleaved cell lymphoma 8.9 LOR SPINK5 TGM1
16 deafness, autosomal dominant 53 8.6 ALOX12B ALOXE3 NIPAL4 SULT2B1 TGM1
17 catecholaminergic polymorphic ventricular tachycardia 5 7.8 ALOX12B ALOXE3 NIPAL4 SPINK5 SULT2B1 TGM1
18 steroid inherited metabolic disorder 7.7 ALOX12B ALOXE3 LOR NIPAL4 SPINK5 TGM1
19 richter's syndrome 7.3 ALOX12B ALOXE3 LOR NIPAL4 SPINK5 SULT2B1

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:

54

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

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

Head And Neck- Mouth:
eclabium (in some patients)

Skeletal- Feet:
hypoplastic toes (in some cases)

Skin Nails & Hair- Hair:
alopecia, mild diffuse (rare)

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

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
Skeletal- Hands:
hypoplastic fingers (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:

56 32 (show all 17)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ichthyosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0008064
2 limitation of joint mobility 56 32 hallmark (90%) Very frequent (99-80%) HP:0001376
3 palmoplantar keratoderma 32 HP:0000982
4 intellectual disability 32 HP:0001249
5 hypohidrosis 32 hallmark (90%) HP:0000966
6 ectropion 32 occasional (7.5%) HP:0000656
7 paralysis 32 HP:0003470
8 growth delay 32 HP:0001510
9 everted lower lip vermilion 32 occasional (7.5%) HP:0000232
10 congenital ichthyosiform erythroderma 32 HP:0007431
11 short toe 32 occasional (7.5%) HP:0001831
12 small nail 32 occasional (7.5%) HP:0001792
13 abnormality of the hair 32 HP:0001595
14 short finger 32 occasional (7.5%) HP:0009381
15 congenital nonbullous ichthyosiform erythroderma 32 HP:0007479
16 thin nail 32 occasional (7.5%) HP:0001816
17 external genital hypoplasia 32 HP:0003241

Drugs & Therapeutics for Ichthyosis, Congenital, Autosomal Recessive 2

Drugs for Ichthyosis, Congenital, Autosomal Recessive 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Antibodies Phase 2
2 Antibodies, Monoclonal Phase 2
3 Immunoglobulins Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Treatment of the Recessive Nonbullous Congenital Ichthyosis by the Epigallocatechine Cutaneous Unknown status NCT01222000 Phase 3 apply VEREGEN ® 10 % on a randomized area and the moisturizing cream of the other side;apply VEREGEN ® 10 % on a randomized area and the moisturizing cream of the other side
2 The Efficacy and Safety of Secukinumab in Patients With Ichthyoses Recruiting NCT03041038 Phase 2 Secukinumab;Placebo

Search 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:

id Genetic test Affiliating Genes
1 Autosomal Recessive Congenital Ichthyosis 2 29

Anatomical Context for Ichthyosis, Congenital, Autosomal Recessive 2

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

39
Skin

Publications for Ichthyosis, Congenital, Autosomal Recessive 2

Variations for Ichthyosis, Congenital, Autosomal Recessive 2

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

71 (show all 18)
id 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
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 19)
id Gene Variation Type Significance SNP ID Assembly Location
1 NIPAL4 NM_001099287.1(NIPAL4): c.527C> A (p.Ala176Asp) single nucleotide variant Pathogenic rs199422217 GRCh37 Chromosome 5, 156895736: 156895736
2 ALOX12B NM_001139.2(ALOX12B): c.1387delT (p.Phe463Leufs) deletion Pathogenic rs387906349 GRCh37 Chromosome 17, 7979638: 7979638
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.1734C> A (p.His578Gln) single nucleotide variant Pathogenic rs137853024 GRCh37 Chromosome 17, 7976996: 7976996
5 TGM1 NM_000359.2(TGM1): c.1223_1227delACACA (p.Asp408Valfs) deletion Pathogenic/Likely pathogenic rs398122905 GRCh37 Chromosome 14, 24727812: 24727816
6 ALOX12B NM_001139.2(ALOX12B): c.340C> T (p.Arg114Trp) single nucleotide variant Pathogenic rs397514526 GRCh37 Chromosome 17, 7989346: 7989346
7 ALOX12B NM_001139.2(ALOX12B): c.2036G> T (p.Arg679Leu) single nucleotide variant Pathogenic rs397514528 GRCh37 Chromosome 17, 7976159: 7976159
8 ALOX12B NM_001139.2(ALOX12B): c.1180G> A (p.Glu394Lys) single nucleotide variant Pathogenic rs397514529 GRCh37 Chromosome 17, 7980403: 7980403
9 ALOX12B NM_001139.2(ALOX12B): c.1207C> T (p.His403Tyr) single nucleotide variant Pathogenic rs397514531 GRCh37 Chromosome 17, 7980376: 7980376
10 ALOX12B ALOX12B, IVS2, G-A, -1 single nucleotide variant Pathogenic
11 ALOX12B NM_001139.2(ALOX12B): c.1642C> T (p.Arg548Trp) single nucleotide variant Pathogenic rs397514532 GRCh37 Chromosome 17, 7978925: 7978925
12 ALOX12B NM_001139.2(ALOX12B): c.1562A> G (p.Tyr521Cys) single nucleotide variant Pathogenic rs199766569 GRCh37 Chromosome 17, 7979005: 7979005
13 ALOX12B NM_001139.2(ALOX12B): c.199A> T (p.Ile67Phe) single nucleotide variant Pathogenic rs397514533 GRCh37 Chromosome 17, 7989487: 7989487
14 ALOX12B NM_001139.2(ALOX12B): c.1579G> A (p.Val527Met) single nucleotide variant Likely pathogenic rs199545653 GRCh38 Chromosome 17, 8075670: 8075670
15 SULT2B1 NM_177973.1(SULT2B1): c.71+2T> A single nucleotide variant Pathogenic rs1114167426 GRCh37 Chromosome 19, 49055582: 49055582
16 SULT2B1 NM_177973.1(SULT2B1): c.364dup (p.Met122Asnfs) duplication Pathogenic rs1114167425 GRCh37 Chromosome 19, 49090635: 49090635
17 SULT2B1 NM_177973.1(SULT2B1): c.821G> A (p.Arg274Gln) single nucleotide variant Pathogenic rs762765702 GRCh37 Chromosome 19, 49100171: 49100171
18 ALOX12B NM_001139.2(ALOX12B): c.527+2T> G single nucleotide variant Likely pathogenic GRCh37 Chromosome 17, 7984200: 7984200
19 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:

id 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:

id Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.43 ALOX12B ALOXE3 LOR SPINK5 SULT2B1 TGM1
2 cornified envelope GO:0001533 8.62 LOR TGM1

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

(show all 12)
id 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:

id 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....