MCID: ATS013
MIFTS: 36

Autosomal Recessive Congenital Ichthyosis malady

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

Summaries for Autosomal Recessive Congenital Ichthyosis

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20GeneReviews, 34MalaCards
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MalaCards: Autosomal Recessive Congenital Ichthyosis, also known as ichthyosiform erythroderma, congenital, is related to ichthyosis, congenital, autosomal recessive 4a and ichthyosis, congenital, autosomal recessive 6. An important gene associated with Autosomal Recessive Congenital Ichthyosis is TGM1 (transglutaminase 1), and among its related pathways are Prostaglandin 2 biosynthesis and metabolism FM and Arachidonic acid metabolism. The compounds 12(r)-hpete and iron have been mentioned in the context of this disorder. Related mouse phenotypes are mortality/aging and integument.

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Aliases & Classifications for Autosomal Recessive Congenital Ichthyosis

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20GeneReviews, 21GeneTests, 63UMLS
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Classifications:

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


Aliases & Descriptions:

autosomal recessive congenital ichthyosis 20 21
ichthyosiform erythroderma, congenital 63


Related Diseases for Autosomal Recessive Congenital Ichthyosis

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

(show all 29)
idRelated DiseaseScoreTop Affiliating Genes
1ichthyosis, congenital, autosomal recessive 4a10.4
2ichthyosis, congenital, autosomal recessive 610.4
3ichthyosis, congenital, autosomal recessive 1010.4
4ichthyosis, congenital, autosomal recessive 810.4
5ichthyosis, congenital, autosomal recessive 1110.4
6ichthyosis, congenital, autosomal recessive 710.4
7ichthyosis, congenital, autosomal recessive 110.4
8ichthyosis, congenital, autosomal recessive 910.4
9ichthyosis, congenital, autosomal recessive 210.4
10ichthyosis, congenital, autosomal recessive 310.4
11ichthyosis, congenital, autosomal recessive 510.4
12abca12-related autosomal recessive congenital ichthyosis10.3
13tgm1-related autosomal recessive congenital ichthyosis10.3
14aloxe3-related autosomal recessive congenital ichthyosis10.3
15alox12b-related autosomal recessive congenital ichthyosis10.3
16nipal4-related autosomal recessive congenital ichthyosis10.3
17cyp4f22-related autosomal recessive congenital ichthyosis10.3
18pnpla1-related autosomal recessive congenital ichthyosis10.3
19ichthyosis, autosomal recessive 4b10.3
20congenital hypothyroidism10.2
21hypothyroidism10.2
22keratoderma10.2
23ectropion10.1ABCA12, TGM1
24ichthyosis vulgaris10.1TGM1
25harlequin type ichthyosis10.0TGM1, ABCA12
26netherton syndrome10.0TGM1, SPINK5
27angelman syndrome10.0NIPA2, NIPA1
28congenital ichthyosiform erythroderma10.0SPINK5, TGM1, ALOXE3, ALOX12B
29skin 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

Symptoms for Autosomal Recessive Congenital Ichthyosis

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Drugs & Therapeutics for Autosomal Recessive Congenital Ichthyosis

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

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Genetic Tests for Autosomal Recessive Congenital Ichthyosis

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21GeneTests
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Genetic tests related to Autosomal Recessive Congenital Ichthyosis:

id Genetic test Affiliating Genes
1 Autosomal Recessive Congenital Ichthyosis21 TGM1

Anatomical Context for Autosomal Recessive Congenital Ichthyosis

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Animal Models for Autosomal Recessive Congenital Ichthyosis or affiliated genes

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

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107688.1SPINK5, TGM1, CERS3, ALOXE3, ALOX12B, SLC27A4
2MP:00107718.0SLC27A4, ABCA12, SPINK5, TGM1, CERS3, ALOXE3
3MP:00053767.8ABCA12, SPINK5, TGM1, CERS3, ALOXE3, ALOX12B

Publications for Autosomal Recessive Congenital Ichthyosis

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53PubMed
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Articles related to Autosomal Recessive Congenital Ichthyosis:

(show all 37)
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
Mutation spectrum and functional analysis of epidermis-type lipoxygenases in patients with autosomal recessive congenital ichthyosis. (16116617)
2005
30
Mutations in transglutaminase 1 gene in autosomal recessive congenital ichthyosis in Egyptian families. (15665393)
2004
31
Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis. (15317751)
2004
32
Autosomal recessive congenital ichthyosis in Sweden and Estonia: clinical, genetic and ultrastructural findings in eighty-three patients. (12636018)
2003
33
Identification, by homozygosity mapping, of a novel locus for autosomal recessive congenital ichthyosis on chromosome 17p, and evidence for further genetic heterogeneity. (11398099)
2001
34
Assignment of a novel locus for autosomal recessive congenital ichthyosis to chromosome 19p13.1-p13.2. (10712223)
2000
35
Clinical and morphological correlations for transglutaminase 1 gene mutations in autosomal recessive congenital ichthyosis. (10482949)
1999
36
Transglutaminase 1 mutations in autosomal recessive congenital ichthyosis: private and recurrent mutations in an isolated population. (9326318)
1997
37
Autosomal Recessive Congenital Ichthyosis (20301593)
1993

Variations for Autosomal Recessive Congenital Ichthyosis

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Expression for genes affiliated with Autosomal Recessive Congenital Ichthyosis

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2BioGPS, 16Gene 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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51PathCards, 61Thomson Reuters, 56Reactome, 31KEGG, 39NCBI BioSystems Database, 52PharmGKB
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Compounds for genes affiliated with Autosomal Recessive Congenital Ichthyosis

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46Novoseek, 25HMDB, 30IUPHAR, 12DrugBank
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Compounds related to Autosomal Recessive Congenital Ichthyosis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
112(r)-hpete46 2510.9ALOX12B, ALOXE3
2iron46 2510.2ALOX12B, ALOXE3, ALOX15B
3arachidonic acid46 30 25 1211.5SLC27A4, ALOX12B, ALOXE3, ALOX15B

GO Terms for genes affiliated with Autosomal Recessive Congenital Ichthyosis

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17Gene Ontology
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Cellular components related to Autosomal Recessive Congenital Ichthyosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulum membraneGO:0057898.6SLC27A4, CERS3, CYP4F22, SPINK5
2integral component of membraneGO:0160217.8CERS3, NIPA1, NIPAL4, NIPA2, NIPAL2, SLC27A4

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1establishment of skin barrierGO:0614369.9ABCA12, ALOXE3, ALOX12B
2lipid catabolic processGO:0160429.9PNPLA1, LIPN
3keratinizationGO:0314249.9ABCA12, TGM1
4ceramide biosynthetic processGO:0465139.6CERS3, ALOXE3, ALOX12B
5sphingolipid metabolic processGO:0066659.5ALOX12B, CERS3, ALOXE3
6keratinocyte differentiationGO:0302169.5TGM1, CERS3
7hepoxilin biosynthetic processGO:0511229.4ALOX15B, ALOXE3, ALOX12B
8linoleic acid metabolic processGO:0436519.3ALOXE3, ALOX12B, ALOX15B
9lipoxygenase pathwayGO:0193729.3ALOX15B, ALOXE3, ALOX12B
10arachidonic acid metabolic processGO:0193699.2ALOX15B, ALOXE3, ALOX12B

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:01670210.0ALOX12B, ALOXE3
2magnesium ion transmembrane transporter activityGO:0150958.9NIPA2, NIPA1, NIPAL4, NIPAL2
3iron ion bindingGO:0055068.6ALOX12B, CYP4F22, ALOX15B, ALOXE3

Products for genes affiliated with Autosomal Recessive Congenital Ichthyosis

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Sources for Autosomal Recessive Congenital Ichthyosis

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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