MCID: ATS013
MIFTS: 26

Autosomal Recessive Congenital Ichthyosis malady

Summaries for Autosomal Recessive Congenital Ichthyosis

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MalaCards: Autosomal Recessive Congenital Ichthyosis, also known as ichthyosiform erythroderma, congenital, is related to congenital ichthyosiform erythroderma and keratoderma. An important gene associated with Autosomal Recessive Congenital Ichthyosis is TGM1 (transglutaminase 1), and among its related pathways are Synthesis of Prostaglandins (PG) and Thromboxanes (TX) and Synthesis of 15-eicosatetraenoic acid derivatives. The compounds 12(r)-hpete and arachidonic acid have been mentioned in the context of this disorder. Related mouse phenotype integument.

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Aliases & Classifications for Autosomal Recessive Congenital Ichthyosis

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19GeneReviews, 20GeneTests, 61UMLS
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Aliases & Descriptions:

autosomal recessive congenital ichthyosis 19 20
ichthyosiform erythroderma, congenital 61


Related Diseases for Autosomal Recessive Congenital Ichthyosis

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17GeneCards, 18GeneDecks
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Diseases in the ichthyosis, congenital, autosomal recessive 1 family:

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 Autosomal Recessive Congenital Ichthyosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 30)
idRelated DiseaseScoreTop Affiliating Genes
1congenital ichthyosiform erythroderma31.2ALOX12B, ALOXE3
2keratoderma30.2TGM1
3ichthyosis, congenital, autosomal recessive 110.6
4ichthyosis, congenital, autosomal recessive 510.5
5ichthyosis, congenital, autosomal recessive 4a10.4
6ichthyosis, congenital, autosomal recessive 610.4
7ichthyosis, congenital, autosomal recessive 1010.4
8ichthyosis, congenital, autosomal recessive 810.4
9ichthyosis, congenital, autosomal recessive 710.4
10ichthyosis, congenital, autosomal recessive 910.4
11ichthyosis, congenital, autosomal recessive 210.4
12ichthyosis, congenital, autosomal recessive 310.4
13abca12-related autosomal recessive congenital ichthyosis10.3
14tgm1-related autosomal recessive congenital ichthyosis10.3
15aloxe3-related autosomal recessive congenital ichthyosis10.3
16alox12b-related autosomal recessive congenital ichthyosis10.3
17nipal4-related autosomal recessive congenital ichthyosis10.3
18cyp4f22-related autosomal recessive congenital ichthyosis10.3
19pnpla1-related autosomal recessive congenital ichthyosis10.3
20ichthyosis, autosomal recessive 4b10.3
21epidermolytic hyperkeratosis10.2
22congenital hypothyroidism10.2
23ichthyosis vulgaris10.0TGM1
24anhidrosis10.0ALOXE3
25ectropion10.0TGM1, ABCA12
26harlequin type ichthyosis10.0ABCA12, TGM1
27paraplegia10.0NIPA1
28angelman syndrome10.0NIPA2, NIPA1
29netherton syndrome10.0TGM1, SPINK5
30skin disease10.0TGM1, ALOX12B, SPINK5, ABCA12

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



Diseases related to autosomal recessive congenital ichthyosis

Clinical Features for Autosomal Recessive Congenital Ichthyosis

Drugs & Therapeutics for Autosomal Recessive Congenital Ichthyosis

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5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search CenterWatch for Autosomal Recessive Congenital Ichthyosis

Genetic Tests for Autosomal Recessive Congenital Ichthyosis

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20GeneTests
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Genetic tests related to Autosomal Recessive Congenital Ichthyosis:

id Genetic test Affiliating Genes
1 Autosomal Recessive Congenital Ichthyosis20 TGM1

Anatomical Context for Autosomal Recessive Congenital Ichthyosis

Animal Models for Autosomal Recessive Congenital Ichthyosis or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Autosomal Recessive Congenital Ichthyosis:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.1TGM1, ALOXE3, ALOX12B, CERS3, SPINK5, SLC27A4

Publications for Autosomal Recessive Congenital Ichthyosis

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51PubMed
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Articles related to Autosomal Recessive Congenital Ichthyosis:

(show all 40)
idTitleAuthorsYear
1
Interactions between FATP4 and ichthyin in epidermal lipid processing may provide clues to the pathogenesis of autosomal recessive congenital ichthyosis. (23290633)
2013
2
Autosomal recessive congenital ichthyosis. (23562412)
2013
3
Identification of a novel PNPLA1 mutation in a Spanish family with autosomal recessive congenital ichthyosis. (24344921)
2013
4
Mutations in TGM1 in Ecuadorians with autosomal recessive congenital ichthyosis. (24261627)
2013
5
Impaired epidermal ceramide synthesis causes autosomal recessive congenital ichthyosis and reveals the importance of ceramide acyl chain length. (23549421)
2013
6
Identifying a Hyperkeratosis Signature in Autosomal Recessive Congenital Ichthyosis: Mdm2 Inhibition Prevents Hyperkeratosis in a Rat ARCI Model. (24005053)
2013
7
The sound of silence: autosomal recessive congenital ichthyosis caused by a synonymous mutation in ABCA12. (23528209)
2013
8
Non-syndromic autosomal recessive congenital ichthyosis in the Israeli population. (23621129)
2013
9
Different TGM1 mutation spectra in Italian and Portuguese patients with autosomal recessive congenital ichthyosis: evidence of founder effects in Portugal. (23278109)
2013
10
Mutations in CERS3 cause autosomal recessive congenital ichthyosis in humans. (23754960)
2013
11
Specific TGM1 mutation profiles in bathing suit and self-improving collodion ichthyoses: phenotypic and genotypic data from 9 patients with dynamic phenotypes of autosomal recessive congenital ichthyosis. (22801880)
2012
12
PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans. (22246504)
2012
13
Manifestation of diffuse yellowish keratoderma on the palms and soles in autosomal recessive congenital ichthyosis patients may be indicative of mutations in NIPAL4. (22098531)
2012
14
Prevalence of autosomal recessive congenital ichthyosis: a population-based study using the capture-recapture method in Spain. (22000705)
2012
15
A mutation in LIPN, encoding epidermal lipase N, causes a late-onset form of autosomal-recessive congenital ichthyosis. (21439540)
2011
16
Autosomal recessive congenital ichthyosis maps to chromosome 15q26.3 in an isolated aboriginal population from southern Taiwan. (21093221)
2011
17
Analysis of TGM1, ALOX12B, ALOXE3, NIPAL4 and CYP4F22 in autosomal recessive congenital ichthyosis from Galicia (NW Spain): evidence of founder effects. (21668430)
2011
18
Nonsense mutation in the ALOX12B gene leads to autosomal recessive congenital ichthyosis in a Lebanese family. (19694890)
2010
19
Type I transglutaminase accumulation in the endoplasmic reticulum may be an underlying cause of autosomal recessive congenital ichthyosis. (20663883)
2010
20
In this issue: Rapid categorization of mild types of autosomal recessive congenital ichthyosis undergoing a phenotypic shift: should it be called "pleomorphic ichthyosis" or "congenital ichthyosis with mild scaling (CIMS)"? (20814617)
2010
21
ABCA12 mutations and autosomal recessive congenital ichthyosis: a review of genotype/phenotype correlations and of pathogenetic concepts. (20672373)
2010
22
Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12B. (19131948)
2009
23
Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA. (18948357)
2009
24
Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling of TGase-1. (19241467)
2009
25
Autosomal recessive congenital ichthyosis and congenital hypothyroidism in a Tunisian patient with a nonsense mutation in TGM1. (19556108)
2009
26
Autosomal recessive congenital ichthyosis. (19434086)
2009
27
Novel mutations in ALOX12B in patients with autosomal recessive congenital ichthyosis and evidence for genetic heterogeneity on chromosome 17p13. (17139268)
2007
28
Transglutaminase 1 deficiency and corneocyte collapse: an indication for targeted molecular screening in autosomal recessive congenital ichthyosis. (17635512)
2007
29
Harlequin ichthyosis and other autosomal recessive congenital ichthyoses: the underlying genetic defects and pathomechanisms. (16481150)
2006
30
Mutation spectrum and functional analysis of epidermis-type lipoxygenases in patients with autosomal recessive congenital ichthyosis. (16116617)
2005
31
Mutations in transglutaminase 1 gene in autosomal recessive congenital ichthyosis in Egyptian families. (15665393)
2004
32
Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis. (15317751)
2004
33
Autosomal recessive congenital ichthyosis in Sweden and Estonia: clinical, genetic and ultrastructural findings in eighty-three patients. (12636018)
2003
34
Identification, by homozygosity mapping, of a novel locus for autosomal recessive congenital ichthyosis on chromosome 17p, and evidence for further genetic heterogeneity. (11398099)
2001
35
Assignment of a novel locus for autosomal recessive congenital ichthyosis to chromosome 19p13.1-p13.2. (10712223)
2000
36
Clinical and morphological correlations for transglutaminase 1 gene mutations in autosomal recessive congenital ichthyosis. (10482949)
1999
37
Transglutaminase 1 mutations in autosomal recessive congenital ichthyosis: private and recurrent mutations in an isolated population. (9326318)
1997
38
Autosomal Recessive Congenital Ichthyosis (20301593)
1993
39
Heterogeneity in autosomal recessive ichthyosis. Clinical and biochemical differentiation of lamellar ichthyosis and nonbullous congenital ichthyosiform erythroderma. (3977371)
1985
40
Elevated n-alkanes in congenital ichthyosiform erythroderma. Phenotypic differentiation of two types of autosomal recessive ichthyosis. (6736251)
1984

Genetic Variations for Autosomal Recessive Congenital Ichthyosis

Expression for genes affiliated with Autosomal Recessive Congenital Ichthyosis

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Autosomal Recessive Congenital Ichthyosis

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Pathways for genes affiliated with Autosomal Recessive Congenital Ichthyosis

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54Reactome, 12EMD Millipore, 30KEGG
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Compounds for genes affiliated with Autosomal Recessive Congenital Ichthyosis

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45Novoseek, 24HMDB, 29IUPHAR, 11DrugBank
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Compounds related to Autosomal Recessive Congenital Ichthyosis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
112(r)-hpete45 2410.7ALOXE3, ALOX12B
2arachidonic acid45 29 11 2411.9ALOXE3, ALOX15B, ALOX12B, SLC27A4

GO Terms for genes affiliated with Autosomal Recessive Congenital Ichthyosis

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16Gene Ontology
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Cellular components related to Autosomal Recessive Congenital Ichthyosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulum membraneGO:0057898.8CERS3, SPINK5, SLC27A4, CYP4F22

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1linoleic acid metabolic processGO:0436519.9ALOX12B, ALOXE3
2establishment of skin barrierGO:0614369.9ALOXE3, ALOX12B, ABCA12
3keratinocyte differentiationGO:0302169.7TGM1, CERS3
4keratinizationGO:0314249.7TGM1, ABCA12
5ceramide biosynthetic processGO:0465139.6ALOXE3, ALOX12B, CERS3
6hepoxilin biosynthetic processGO:0511229.5ALOXE3, ALOX15B, ALOX12B
7lipoxygenase pathwayGO:0193729.5ALOX12B, ALOX15B, ALOXE3
8sphingolipid metabolic processGO:0066659.5ALOXE3, ALOX12B, CERS3
9arachidonic acid metabolic processGO:0193699.4ALOX12B, ALOX15B, ALOXE3

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

idNameGO IDScoreTop Affiliating Genes
1oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygenGO:01670210.0ALOXE3, ALOX12B
2iron ion bindingGO:0055068.8CYP4F22, ALOX12B, ALOX15B, ALOXE3
3magnesium ion transmembrane transporter activityGO:0150958.6NIPAL4, NIPAL2, NIPA2, NIPA1

Products for genes affiliated with Autosomal Recessive Congenital Ichthyosis

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Sources for Autosomal Recessive Congenital Ichthyosis

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