CIE
MCID: ICH049
MIFTS: 43

Ichthyosis, Congenital, Autosomal Recessive 2 (CIE) malady

Genetic diseases, Skin diseases, Rare diseases, Eye diseases categories

Summaries for Ichthyosis, Congenital, Autosomal Recessive 2

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48OMIM, 34MalaCards
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MalaCards: Ichthyosis, Congenital, Autosomal Recessive 2, also known as congenital non-bullous ichthyosiform erythroderma, is related to congenital ichthyosiform erythroderma and acral self-healing collodion baby, and has symptoms including short stature/dwarfism/nanism, failure to thrive/difficulties for feeding in infancy/growth delay and nails anomalies. An important gene associated with Ichthyosis, Congenital, Autosomal Recessive 2 is ALOX12B (arachidonate 12-lipoxygenase, 12R type), and among its related pathways is Prostaglandin 2 biosynthesis and metabolism FM. The compounds 12(r)-hpete and lipid have been mentioned in the context of this disorder. Affiliated tissues include skin, and related mouse phenotypes are growth/size/body and integument.

Description from OMIM:48 242100, 242300, 606545, 612281, 615022 615023, 615024 more

Aliases & Classifications for Ichthyosis, Congenital, Autosomal Recessive 2

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Sources:
50Orphanet, 48OMIM, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Skin diseases, Eye diseases
Orphanet: 50 
Rare skin diseases


Characteristics (Orphanet epidemiological data):

50
self-healing collodion baby:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy
congenital non-bullous ichthyosiform erythroderma:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000; Age of onset: Neonatal/infancy; Age of death: Before age 5


Aliases & Descriptions:

ichthyosis, congenital, autosomal recessive 2 48
congenital non-bullous ichthyosiform erythroderma 50
non-bullous congenital ichthyosiform erythroderma 50
self-healing collodion baby 50
erythrodermic ichthyosis 50
shcb 50
cie 50


External Ids:

ICD10 via Orphanet27 Q80.2
SNOMED-CT via Orphanet60 267372009
UMLS via Orphanet64 C0079154

Related Diseases for Ichthyosis, Congenital, Autosomal Recessive 2

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18GeneCards, 19GeneDecks
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Diseases in the Ichthyosis, Congenital, Autosomal Recessive 1 family:

Autosomal Recessive Congenital Ichthyosis Abca12-Related Autosomal Recessive Congenital Ichthyosis
Tgm1-Related Autosomal Recessive Congenital Ichthyosis Aloxe3-Related Autosomal Recessive Congenital Ichthyosis
Alox12b-Related Autosomal Recessive Congenital Ichthyosis Nipal4-Related Autosomal Recessive Congenital Ichthyosis
Cyp4f22-Related Autosomal Recessive Congenital Ichthyosis Pnpla1-Related Autosomal Recessive Congenital Ichthyosis
Ichthyosis, Congenital, Autosomal Recessive 4a Ichthyosis, 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 9
ichthyosis, congenital, autosomal recessive 2 Ichthyosis, Congenital, Autosomal Recessive 3
Ichthyosis, Congenital, Autosomal Recessive 5

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

(show all 19)
idRelated DiseaseScoreTop Affiliating Genes
1congenital ichthyosiform erythroderma30.4ALOX12B, ALOXE3, TGM1
2acral self-healing collodion baby10.6
3fibrous histiocytoma10.4
4noonan syndrome10.4
5ocular albinism10.4
6histiocytoma10.4
7keratosis10.4
8melanoma10.4
9sarcoma10.4
10seborrheic keratosis10.4
11albinism10.4
12cholera10.0
13bubonic plague10.0
14plague10.0
15ichthyosis vulgaris10.0TGM1
16harlequin type ichthyosis10.0ABCA12, TGM1
17ectropion10.0TGM1, ABCA12
18skin disease10.0ALOX12B, TGM1, ABCA12
19autosomal recessive congenital ichthyosis9.9NIPAL4, ABCA12, TGM1, ALOXE3, ALOX12B

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



Diseases related to ichthyosis, congenital, autosomal recessive 2

Symptoms for Ichthyosis, Congenital, Autosomal Recessive 2

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

242100

Clinical features from OMIM:

242100,242300,606545,612281,615022,615023,615024

Symptoms:

50 (show all 15)
  • short stature/dwarfism/nanism
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • nails anomalies
  • alopecia
  • palmoplantar hyperkeratosis/keratoderma
  • hearing loss/hypoacusia/deafness
  • chronic uveitis/blepharitis/episcleritis/scleritis/conjonctivitis/keratitis
  • corneal ulceration/perforation
  • autosomal recessive inheritance
  • pruritus/itching
  • erythema/erythematous lesions/erythroderma/polymorphous erythema
  • ichthyosis/ichthyosiform dermatitis
  • hypohidrosis/decreased sweating/thermoregulation disorder/heat intolerance
  • ectropion/entropion/eyelid eversion
  • restricted joint mobility/joint stiffness/ankylosis

Drugs & Therapeutics for Ichthyosis, Congenital, Autosomal Recessive 2

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Ichthyosis, Congenital, Autosomal Recessive 2

Drug clinical trials:

Search ClinicalTrials for Ichthyosis, Congenital, Autosomal Recessive 2

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

Search CenterWatch for Ichthyosis, Congenital, Autosomal Recessive 2

Genetic Tests for Ichthyosis, Congenital, Autosomal Recessive 2

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Anatomical Context for Ichthyosis, Congenital, Autosomal Recessive 2

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34MalaCards
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MalaCards organs/tissues related to Ichthyosis, Congenital, Autosomal Recessive 2:

34
Skin

Animal Models for Ichthyosis, Congenital, Autosomal Recessive 2 or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Ichthyosis, Congenital, Autosomal Recessive 2:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053788.4ALOXE3, CERS3, TGM1, ABCA12
2MP:00107718.0ALOX12B, ALOXE3, CERS3, TGM1, ABCA12
3MP:00053767.9ABCA12, TGM1, CERS3, ALOXE3, ALOX12B
4MP:00107687.7ABCA12, TGM1, CERS3, ALOXE3, ALOX12B

Publications for Ichthyosis, Congenital, Autosomal Recessive 2

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Variations for Ichthyosis, Congenital, Autosomal Recessive 2

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Ichthyosis, Congenital, Autosomal Recessive 2:

65 (show all 18)
id Symbol AA change Variation ID SNP ID
1ALOX12Bp.Leu426ProVAR_015173
2ALOX12Bp.His578GlnVAR_015174
3ALOX12Bp.Leu24ProVAR_069545
4ALOX12Bp.Ile67PheVAR_069546
5ALOX12Bp.Arg114TrpVAR_069547
6ALOX12Bp.Pro127SerVAR_069548
7ALOX12Bp.Phe195LeuVAR_069549
8ALOX12Bp.Tyr318CysVAR_069550
9ALOX12Bp.Lys382GluVAR_069551
10ALOX12Bp.Thr383MetVAR_069552
11ALOX12Bp.Asn416LysVAR_069553
12ALOX12Bp.Gly462AspVAR_069554
13ALOX12Bp.Arg488HisVAR_069555
14ALOX12Bp.Tyr521CysVAR_069556
15ALOX12Bp.Val527MetVAR_069557
16ALOX12Bp.Ala597GluVAR_069558
17ALOX12Bp.Ala664ProVAR_069559
18ALOX12Bp.Arg679LeuVAR_069560

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

1 (show all 13)
id Gene Name Type Significance SNP ID Assembly Location
1ALOX12BNM_001139.2(ALOX12B): c.340C> T (p.Arg114Trp)single nucleotide variantPathogenicrs397514526GRCh37Chr 17, 7989346: 7989346
2ALOX12BNM_001139.2(ALOX12B): c.1294C> T (p.Arg432Ter)single nucleotide variantPathogenicrs397514527GRCh37Chr 17, 7980043: 7980043
3ALOX12BNM_001139.2(ALOX12B): c.2036G> T (p.Arg679Leu)single nucleotide variantPathogenicrs397514528GRCh37Chr 17, 7976159: 7976159
4ALOX12BNM_001139.2(ALOX12B): c.1180G> A (p.Glu394Lys)single nucleotide variantPathogenicrs397514529GRCh37Chr 17, 7980403: 7980403
5ALOX12BNM_001139.2(ALOX12B): c.410T> A (p.Ile137Asn)single nucleotide variantPathogenicrs397514530GRCh37Chr 17, 7984448: 7984448
6ALOX12BNM_001139.2(ALOX12B): c.1207C> T (p.His403Tyr)single nucleotide variantPathogenicrs397514531GRCh37Chr 17, 7980376: 7980376
7ALOX12BALOX12B, IVS2, G-A, -1single nucleotide variantPathogenic
8ALOX12BNM_001139.2(ALOX12B): c.1642C> T (p.Arg548Trp)single nucleotide variantPathogenicrs397514532GRCh37Chr 17, 7978925: 7978925
9ALOX12BNM_001139.2(ALOX12B): c.1562A> G (p.Tyr521Cys)single nucleotide variantPathogenicrs199766569GRCh37Chr 17, 7979005: 7979005
10ALOX12BNM_001139.2(ALOX12B): c.199A> T (p.Ile67Phe)single nucleotide variantPathogenicrs397514533GRCh37Chr 17, 7989487: 7989487
11ALOX12BNM_001139.2(ALOX12B): c.1387delT (p.Phe463Leufs)deletionPathogenicrs387906349GRCh37Chr 17, 7979638: 7979638
12ALOX12BNM_001139.2(ALOX12B): c.1277T> C (p.Leu426Pro)single nucleotide variantPathogenicrs137853023GRCh37Chr 17, 7980060: 7980060
13ALOX12BNM_001139.2(ALOX12B): c.1734C> A (p.His578Gln)single nucleotide variantPathogenicrs137853024GRCh37Chr 17, 7976996: 7976996

Expression for genes affiliated with Ichthyosis, Congenital, Autosomal Recessive 2

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Ichthyosis, Congenital, Autosomal Recessive 2

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

Pathways for genes affiliated with Ichthyosis, Congenital, Autosomal Recessive 2

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51PathCards, 61Thomson Reuters
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Pathways related to Ichthyosis, Congenital, Autosomal Recessive 2 according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6ALOX12B, ALOXE3

Compounds for genes affiliated with Ichthyosis, Congenital, Autosomal Recessive 2

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46Novoseek, 25HMDB
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Compounds related to Ichthyosis, Congenital, Autosomal Recessive 2 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
112(r)-hpete46 2510.3ALOX12B, ALOXE3
2lipid468.9ALOXE3, TGM1, ABCA12

GO Terms for genes affiliated with Ichthyosis, Congenital, Autosomal Recessive 2

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17Gene Ontology
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Biological processes related to Ichthyosis, Congenital, Autosomal Recessive 2 according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1hepoxilin biosynthetic processGO:0511229.8ALOX12B, ALOXE3
2lipoxygenase pathwayGO:0193729.7ALOX12B, ALOXE3
3linoleic acid metabolic processGO:0436519.6ALOXE3, ALOX12B
4arachidonic acid metabolic processGO:0193699.3ALOX12B, ALOXE3
5keratinocyte differentiationGO:0302169.3TGM1, CERS3
6establishment of skin barrierGO:0614369.3ABCA12, ALOXE3, ALOX12B
7ceramide biosynthetic processGO:0465139.3CERS3, ALOXE3, ALOX12B
8sphingolipid metabolic processGO:0066659.3ALOX12B, ALOXE3, CERS3
9keratinizationGO:0314249.2TGM1, ABCA12

Molecular functions related to Ichthyosis, Congenital, Autosomal Recessive 2 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1iron ion bindingGO:0055069.6ALOX12B, ALOXE3
2oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygenGO:0167029.3ALOX12B, ALOXE3

Products for genes affiliated with Ichthyosis, Congenital, Autosomal Recessive 2

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Sources for Ichthyosis, Congenital, Autosomal Recessive 2

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet