CIE
MCID: ICH049
MIFTS: 43

Ichthyosis, Congenital, Autosomal Recessive 2 (CIE) malady

Skin diseases category

Summaries for Ichthyosis, Congenital, Autosomal Recessive 2

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46OMIM, 32MalaCards
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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 Synthesis of Prostaglandins (PG) and Thromboxanes (TX). The compound 12(r)-hpete have been mentioned in the context of this disorder. Affiliated tissues include skin, and related mouse phenotypes are mortality/aging and integument.

Description from OMIM:46 242100, 242300, 606545, 612281, 615022 615023, 615024 more

Aliases & Classifications for Ichthyosis, Congenital, Autosomal Recessive 2

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Sources:
48Orphanet, 46OMIM, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Skin diseases


Characteristics (Orphanet epidemiological data):

48
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 46
congenital non-bullous ichthyosiform erythroderma 48
non-bullous congenital ichthyosiform erythroderma 48
self-healing collodion baby 48
erythrodermic ichthyosis 48
shcb 48
cie 48


External Ids:

ICD10 via Orphanet26 Q80.2
SNOMED-CT via Orphanet57 267372009
UMLS via Orphanet61 C0079154

Related Diseases for Ichthyosis, Congenital, Autosomal Recessive 2

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17GeneCards, 18GeneDecks
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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 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 24)
idRelated DiseaseScoreTop Affiliating Genes
1congenital ichthyosiform erythroderma30.3ALOXE3, ALOX12B
2acral self-healing collodion baby10.5
3fibrous histiocytoma10.4
4cutaneous fibrous histiocytoma10.4
5noonan syndrome10.4
6ocular albinism10.4
7histiocytoma10.4
8keratosis10.4
9melanoma10.4
10sarcoma10.4
11seborrheic keratosis10.4
12skin melanoma10.4
13squamous cell carcinoma10.4
14albinism10.4
15cholera10.0
16bubonic plague10.0
17plague10.0
18keratoderma10.0TGM1
19ichthyosis vulgaris10.0TGM1
20anhidrosis10.0ALOXE3
21harlequin type ichthyosis10.0TGM1, ABCA12
22ectropion10.0TGM1, ABCA12
23skin disease10.0ABCA12, ALOX12B, TGM1
24autosomal recessive congenital ichthyosis10.0ALOXE3, TGM1, ALOX12B, ABCA12, NIPAL4

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



Diseases related to ichthyosis, congenital, autosomal recessive 2

Clinical Features for Ichthyosis, Congenital, Autosomal Recessive 2

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

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

Clinical synopsis from OMIM:

242100

Symptoms:

48 (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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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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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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Sources:
32MalaCards
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MalaCards organs/tissues related to Ichthyosis, Congenital, Autosomal Recessive 2:

32
Skin

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

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36MGI
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MGI Mouse Phenotypes related to Ichthyosis, Congenital, Autosomal Recessive 2:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107687.9TGM1, ALOXE3, ALOX12B, CERS3, ABCA12
2MP:00107717.8TGM1, ALOXE3, ALOX12B, CERS3, ABCA12
3MP:00053767.6ABCA12, CERS3, ALOX12B, ALOXE3, TGM1

Publications for Ichthyosis, Congenital, Autosomal Recessive 2

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Genetic Variations for Ichthyosis, Congenital, Autosomal Recessive 2

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Ichthyosis, Congenital, Autosomal Recessive 2:

62 (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

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

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1BioGPS, 15Gene 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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53Reactome, 12EMD Millipore
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Pathways related to Ichthyosis, Congenital, Autosomal Recessive 2 according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.6ALOXE3, ALOX12B

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

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44Novoseek, 24HMDB
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Compounds related to Ichthyosis, Congenital, Autosomal Recessive 2 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
112(r)-hpete44 2410.6ALOXE3, ALOX12B

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

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16Gene 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:0511229.8ALOXE3, ALOX12B
2linoleic acid metabolic processGO:0436519.7ALOXE3, ALOX12B
3lipoxygenase pathwayGO:0193729.6ALOXE3, ALOX12B
4keratinocyte differentiationGO:0302169.5TGM1, CERS3
5arachidonic acid metabolic processGO:0193699.3ALOXE3, ALOX12B
6ceramide biosynthetic processGO:0465139.3ALOXE3, ALOX12B, CERS3
7sphingolipid metabolic processGO:0066659.2CERS3, ALOX12B, ALOXE3
8keratinizationGO:0314249.1ABCA12, TGM1
9establishment of skin barrierGO:0614369.0ALOXE3, ALOX12B, ABCA12

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

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

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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet