MCID: ATS013
MIFTS: 36

Autosomal Recessive Congenital Ichthyosis malady

Genetic diseases, Eye diseases, Skin diseases, Rare diseases categories
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Summaries for Autosomal Recessive Congenital Ichthyosis

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MalaCards based summary: Autosomal Recessive Congenital Ichthyosis 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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Autosomal Recessive Congenital Ichthyosis, Aliases & Descriptions:

Name: Autosomal Recessive Congenital Ichthyosis 19 20


Classifications:

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


Related Diseases for Autosomal Recessive Congenital Ichthyosis

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Diseases in the Ichthyosis, Congenital, Autosomal Recessive 2 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 1
Ichthyosis, Congenital, Autosomal Recessive 9 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
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 ichthyosis10.4
13tgm1-related autosomal recessive congenital ichthyosis10.4
14aloxe3-related autosomal recessive congenital ichthyosis10.4
15alox12b-related autosomal recessive congenital ichthyosis10.4
16nipal4-related autosomal recessive congenital ichthyosis10.4
17cyp4f22-related autosomal recessive congenital ichthyosis10.4
18pnpla1-related autosomal recessive congenital ichthyosis10.4
19ichthyosis, autosomal recessive 4b10.4
20ectropion10.3TGM1, ABCA12
21ichthyosis vulgaris10.2TGM1
22congenital hypothyroidism10.2
23hypothyroidism10.2
24keratoderma10.2
25harlequin type ichthyosis10.2TGM1, ABCA12
26netherton syndrome10.1TGM1, SPINK5
27angelman syndrome10.1NIPA2, NIPA1
28congenital ichthyosiform erythroderma10.0SPINK5, TGM1, ALOXE3, ALOX12B
29ichthyosis lamellar 110.0SPINK5, TGM1, ALOXE3, ALOX12B
30skin disease9.9ABCA12, SPINK5, TGM1, ALOX12B

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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Drug clinical trials:

Search ClinicalTrials for Autosomal Recessive Congenital Ichthyosis

Search NIH Clinical Center for Autosomal Recessive Congenital Ichthyosis

Genetic Tests for Autosomal Recessive Congenital Ichthyosis

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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

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Animal Models for Autosomal Recessive Congenital Ichthyosis or affiliated genes

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MGI Mouse Phenotypes related to Autosomal Recessive Congenital Ichthyosis:

36
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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Articles related to Autosomal Recessive Congenital Ichthyosis:

(show all 44)
idTitleAuthorsYear
1
Oral manifestation of autosomal recessive congenital ichthyosis in a 2-year-old patient. (24995134)
2014
2
A mouse organotypic tissue culture model for autosomal recessive congenital ichthyosis. (25078898)
2014
3
Mutations of transglutaminase-1 in Chinese patients with autosomal recessive congenital ichthyosis: a case report with clinical and genetic analysis of Chinese cases reported in literature. (25154629)
2014
4
The effect of two endogenous retinoids on the mRNA expression profile in human primary keratinocytes, focusing on genes causing autosomal recessive congenital ichthyosis. (24925226)
2014
5
Autosomal Recessive Congenital Ichthyosis in American Bulldogs Is Associated With NIPAL4 (ICHTHYIN) Deficiency. (25322746)
2014
6
Anti-laminin-I^1 Pemphigoid Developed in a Case of Autosomal Recessive Congenital Ichthyosis. (24733442)
2014
7
A novel mutation in the transglutaminase-1 gene in an autosomal recessive congenital ichthyosis patient. (25180191)
2014
8
Interactions between FATP4 and ichthyin in epidermal lipid processing may provide clues to the pathogenesis of autosomal recessive congenital ichthyosis. (23290633)
2013
9
Autosomal recessive congenital ichthyosis. (23562412)
2013
10
Identification of a novel PNPLA1 mutation in a Spanish family with autosomal recessive congenital ichthyosis. (24344921)
2013
11
Mutations in TGM1 in Ecuadorians with autosomal recessive congenital ichthyosis. (24261627)
2013
12
Impaired epidermal ceramide synthesis causes autosomal recessive congenital ichthyosis and reveals the importance of ceramide acyl chain length. (23549421)
2013
13
Identifying a Hyperkeratosis Signature in Autosomal Recessive Congenital Ichthyosis: Mdm2 Inhibition Prevents Hyperkeratosis in a Rat ARCI Model. (24005053)
2013
14
The sound of silence: autosomal recessive congenital ichthyosis caused by a synonymous mutation in ABCA12. (23528209)
2013
15
Non-syndromic autosomal recessive congenital ichthyosis in the Israeli population. (23621129)
2013
16
Different TGM1 mutation spectra in Italian and Portuguese patients with autosomal recessive congenital ichthyosis: evidence of founder effects in Portugal. (23278109)
2013
17
Mutations in CERS3 cause autosomal recessive congenital ichthyosis in humans. (23754960)
2013
18
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
19
PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans. (22246504)
2012
20
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
21
Prevalence of autosomal recessive congenital ichthyosis: a population-based study using the capture-recapture method in Spain. (22000705)
2012
22
A mutation in LIPN, encoding epidermal lipase N, causes a late-onset form of autosomal-recessive congenital ichthyosis. (21439540)
2011
23
Autosomal recessive congenital ichthyosis maps to chromosome 15q26.3 in an isolated aboriginal population from southern Taiwan. (21093221)
2011
24
Analysis of TGM1, ALOX12B, ALOXE3, NIPAL4 and CYP4F22 in autosomal recessive congenital ichthyosis from Galicia (NW Spain): evidence of founder effects. (21668430)
2011
25
Nonsense mutation in the ALOX12B gene leads to autosomal recessive congenital ichthyosis in a Lebanese family. (19694890)
2010
26
Type I transglutaminase accumulation in the endoplasmic reticulum may be an underlying cause of autosomal recessive congenital ichthyosis. (20663883)
2010
27
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
28
ABCA12 mutations and autosomal recessive congenital ichthyosis: a review of genotype/phenotype correlations and of pathogenetic concepts. (20672373)
2010
29
Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12B. (19131948)
2009
30
Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA. (18948357)
2009
31
Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling of TGase-1. (19241467)
2009
32
Autosomal recessive congenital ichthyosis and congenital hypothyroidism in a Tunisian patient with a nonsense mutation in TGM1. (19556108)
2009
33
Autosomal recessive congenital ichthyosis. (19434086)
2009
34
Novel mutations in ALOX12B in patients with autosomal recessive congenital ichthyosis and evidence for genetic heterogeneity on chromosome 17p13. (17139268)
2007
35
Transglutaminase 1 deficiency and corneocyte collapse: an indication for targeted molecular screening in autosomal recessive congenital ichthyosis. (17635512)
2007
36
Mutation spectrum and functional analysis of epidermis-type lipoxygenases in patients with autosomal recessive congenital ichthyosis. (16116617)
2005
37
Mutations in transglutaminase 1 gene in autosomal recessive congenital ichthyosis in Egyptian families. (15665393)
2004
38
Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis. (15317751)
2004
39
Autosomal recessive congenital ichthyosis in Sweden and Estonia: clinical, genetic and ultrastructural findings in eighty-three patients. (12636018)
2003
40
Identification, by homozygosity mapping, of a novel locus for autosomal recessive congenital ichthyosis on chromosome 17p, and evidence for further genetic heterogeneity. (11398099)
2001
41
Assignment of a novel locus for autosomal recessive congenital ichthyosis to chromosome 19p13.1-p13.2. (10712223)
2000
42
Clinical and morphological correlations for transglutaminase 1 gene mutations in autosomal recessive congenital ichthyosis. (10482949)
1999
43
Transglutaminase 1 mutations in autosomal recessive congenital ichthyosis: private and recurrent mutations in an isolated population. (9326318)
1997
44
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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Expression patterns in normal tissues for genes affiliated with Autosomal Recessive Congenital Ichthyosis

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

Pathways for genes affiliated with Autosomal Recessive Congenital Ichthyosis

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Compounds for genes affiliated with Autosomal Recessive Congenital Ichthyosis

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Sources:
44Novoseek, 24HMDB, 28IUPHAR, 11DrugBank
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Compounds related to Autosomal Recessive Congenital Ichthyosis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
112(r)-hpete44 2410.9ALOX12B, ALOXE3
2iron44 2410.2ALOX12B, ALOXE3, ALOX15B
3arachidonic acid44 28 24 1111.5SLC27A4, ALOX12B, ALOXE3, ALOX15B

GO Terms for genes affiliated with Autosomal Recessive Congenital Ichthyosis

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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:0614369.9ALOX12B, ALOXE3, ABCA12
2lipid catabolic processGO:0160429.9LIPN, PNPLA1
3keratinizationGO:0314249.9TGM1, ABCA12
4ceramide biosynthetic processGO:0465139.6CERS3, ALOXE3, ALOX12B
5sphingolipid metabolic processGO:0066659.5CERS3, ALOXE3, ALOX12B
6keratinocyte differentiationGO:0302169.5CERS3, TGM1
7hepoxilin biosynthetic processGO:0511229.4ALOX12B, ALOXE3, ALOX15B
8linoleic acid metabolic processGO:0436519.3ALOX15B, ALOXE3, ALOX12B
9lipoxygenase pathwayGO:0193729.3ALOX15B, ALOXE3, ALOX12B
10arachidonic acid metabolic processGO:0193699.2ALOX12B, ALOXE3, ALOX15B

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:0150958.9NIPAL2, NIPA2, NIPAL4, NIPA1
3iron ion bindingGO:0055068.6CYP4F22, ALOX15B, ALOXE3, ALOX12B

Products for genes affiliated with Autosomal Recessive Congenital Ichthyosis

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Sources for Autosomal Recessive Congenital Ichthyosis

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet