CIE
MCID: ICH049
MIFTS: 31

Ichthyosis, Congenital, Autosomal Recessive 2 (CIE) malady

Skin category

Summaries for Ichthyosis, Congenital, Autosomal Recessive 2

Sources:
47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
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 ichthyosis/ichthyosiform dermatitis, restricted joint mobility/joint stiffness/ankylosis and autosomal recessive inheritance. 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 phenotype integument.

Description from OMIM:47 242100, 242300, 606545, 612281, 615022 615023, 615024 more

Aliases & Classifications for Ichthyosis, Congenital, Autosomal Recessive 2

Sources:
49Orphanet, 47OMIM, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
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 47
congenital non-bullous ichthyosiform erythroderma 49
non-bullous congenital ichthyosiform erythroderma 49
self-healing collodion baby 49
erythrodermic ichthyosis 49
shcb 49
cie 49


External Ids:

ICD10 via Orphanet26 Q80.2
SNOMED-CT via Orphanet58 267372009
UMLS via Orphanet62 C0079154

Related Diseases for Ichthyosis, Congenital, Autosomal Recessive 2

Sources:
17GeneCards, 18GeneDecks
See all sources

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



Diseases related to ichthyosis, congenital, autosomal recessive 2

Clinical Features for Ichthyosis, Congenital, Autosomal Recessive 2

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

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

Clinical synopsis from OMIM:

242100

Symptoms:

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

Drugs & Therapeutics for Ichthyosis, Congenital, Autosomal Recessive 2

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

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

Anatomical Context for Ichthyosis, Congenital, Autosomal Recessive 2

Sources:
33MalaCards
See all sources

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

33
Skin

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

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

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

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.3TGM1, ALOXE3, ALOX12B, ABCA12

Publications for Ichthyosis, Congenital, Autosomal Recessive 2

Genetic Variations for Ichthyosis, Congenital, Autosomal Recessive 2

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Ichthyosis, Congenital, Autosomal Recessive 2:

63 (show all 18)
id Symbol AA change Variation 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

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
54Reactome, 12EMD Millipore
See all sources

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.5ALOXE3, ALOX12B

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

Sources:
45Novoseek, 24HMDB
See all sources

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

idCompoundScoreTop Affiliating Genes
112(r)-hpete45 2410.5ALOXE3, ALOX12B

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

Sources:
16Gene Ontology
See all sources

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1hepoxilin biosynthetic processGO:0511229.7ALOXE3, ALOX12B
2linoleic acid metabolic processGO:0436519.7ALOXE3, ALOX12B
3lipoxygenase pathwayGO:0193729.6ALOX12B, ALOXE3
4ceramide biosynthetic processGO:0465139.5ALOXE3, ALOX12B
5sphingolipid metabolic processGO:0066659.5ALOXE3, ALOX12B
6arachidonic acid metabolic processGO:0193699.2ALOXE3, ALOX12B
7keratinizationGO:0314249.1TGM1, ABCA12
8establishment of skin barrierGO:0614368.9ALOXE3, ALOX12B, ABCA12

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

idNameGO IDScoreTop Affiliating Genes
1iron ion bindingGO:0055069.5ALOXE3, ALOX12B
2oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygenGO:0167029.2ALOXE3, ALOX12B

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Ichthyosis, Congenital, Autosomal Recessive 2

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet