MCID: ATS013
MIFTS: 33

Autosomal Recessive Congenital Ichthyosis malady

Genetic diseases, Skin diseases, Rare diseases categories

Aliases & Classifications for Autosomal Recessive Congenital Ichthyosis

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Aliases & Descriptions for Autosomal Recessive Congenital Ichthyosis:

Name: Autosomal Recessive Congenital Ichthyosis 21 22
Congenital Lamellar Ichthyosis, Autosomal Recessive 22
Congenital Non Bullous Ichthyosiform Erythroderma 22
 
Autosomal Recessive Lamellar Ichthyosis 22
Congenital Ichthyosiform Erythroderma 22
Collodion Baby 22


Classifications:



Summaries for Autosomal Recessive Congenital Ichthyosis

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MalaCards based summary: Autosomal Recessive Congenital Ichthyosis, also known as congenital lamellar ichthyosis, autosomal recessive, is related to ichthyosis, autosomal recessive 4b and ichthyosis, congenital, autosomal recessive 3. 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. Affiliated tissues include skin, and related mouse phenotype integument.

GeneReviews summary for li-ar

Related Diseases for Autosomal Recessive Congenital Ichthyosis

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Diseases in the Ichthyosis family:

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 2
Ichthyosis, Congenital, Autosomal Recessive 3 Ichthyosis, Congenital, Autosomal Recessive 5
autosomal recessive congenital ichthyosis Ichthyosis, Acquired
Abca12-Related Autosomal Recessive Congenital Ichthyosis Alox12b-Related Autosomal Recessive Congenital Ichthyosis
Aloxe3-Related Autosomal Recessive Congenital Ichthyosis Cyp4f22-Related Autosomal Recessive Congenital Ichthyosis
Pnpla1-Related Autosomal Recessive Congenital Ichthyosis Tgm1-Related Autosomal Recessive Congenital Ichthyosis

Diseases related to Autosomal Recessive Congenital Ichthyosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 74)
idRelated DiseaseScoreTop Affiliating Genes
1ichthyosis, autosomal recessive 4b31.0ABCA12, TGM1
2ichthyosis, congenital, autosomal recessive 331.0ALOX12B, ALOXE3, TGM1
3ichthyosis vulgaris30.8ABCA12, TGM1
4netherton syndrome30.5SPINK5, TGM1
5ichthyosis11.1
6epidermolytic hyperkeratosis10.8
7ichthyosis, congenital, autosomal recessive 110.6
8ichthyosis, congenital, autosomal recessive 610.6
9congenital ichthyosiform erythroderma10.5
10ectropion10.5
11acral self-healing collodion baby10.5
12ichthyosis, congenital, autosomal recessive 4a10.5
13ichthyosis, congenital, autosomal recessive 1010.5
14ichthyosis, congenital, autosomal recessive 810.5
15ichthyosis, congenital, autosomal recessive 1110.5
16ichthyosis, congenital, autosomal recessive 910.5
17ichthyosis, congenital, autosomal recessive 210.5
18ichthyosis, congenital, autosomal recessive 510.5
19ichthyosis, congenital, autosomal recessive 710.4
20abca12-related autosomal recessive congenital ichthyosis10.4
21alox12b-related autosomal recessive congenital ichthyosis10.4
22aloxe3-related autosomal recessive congenital ichthyosis10.4
23cyp4f22-related autosomal recessive congenital ichthyosis10.4
24pnpla1-related autosomal recessive congenital ichthyosis10.4
25tgm1-related autosomal recessive congenital ichthyosis10.4
26ichthyosis bullosa of siemens10.4
27rickets10.4
28gaucher's disease10.4
29chanarin-dorfman syndrome10.3
30keratitis10.3
31ichthyosis, cyclic, with epidermolytic hyperkeratosis10.3
32palmoplantar keratoderma, epidermolytic10.3
33ichthyosis, x-linked10.3
34chondrodysplasia punctata, x-linked dominant10.3
35child syndrome10.3
36mycosis fungoides10.3
37ocular albinism10.3
38black piedra10.3
39quadriplegia10.3
40spastic quadriplegia10.3
41fibrous histiocytoma10.3
42epidermolysis bullosa simplex10.3
43cholesteatoma10.3
44dermatitis10.3
45epidermolysis bullosa10.3
46histiocytoma10.3
47keratosis10.3
48melanoma10.3
49psoriasis10.3
50sarcoma10.3

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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Drugs for Autosomal Recessive Congenital Ichthyosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1EmollientsPhase 3113

Interventional clinical trials:

idNameStatusNCT IDPhase
1Treatment of the Recessive Nonbullous Congenital Ichthyosis by the Epigallocatechine CutaneousNot yet recruitingNCT01222000Phase 3

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 Ichthyosis22 TGM1

Anatomical Context for Autosomal Recessive Congenital Ichthyosis

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MalaCards organs/tissues related to Autosomal Recessive Congenital Ichthyosis:

33
Skin

Animal Models for Autosomal Recessive Congenital Ichthyosis or affiliated genes

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MGI Mouse Phenotypes related to Autosomal Recessive Congenital Ichthyosis:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.1ABCA12, ALOX12B, ALOXE3, CERS3, SLC27A4, SPINK5

Publications for Autosomal Recessive Congenital Ichthyosis

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Articles related to Autosomal Recessive Congenital Ichthyosis:

(show top 50)    (show all 51)
idTitleAuthorsYear
1
Novel mutation in NIPAL4 in a Romanian family with autosomal recessive congenital ichthyosis. (26456858)
2015
2
Mutation study for 9 genes in 23 unrelated patients with autosomal recessive congenital ichthyosis in Japan and Malaysia. (25766764)
2015
3
Novel mutations in the genes TGM1 and ALOXE3 underlying autosomal recessive congenital ichthyosis. (26578203)
2015
4
Identification and functional characterization of a novel transglutaminase 1 gene mutation associated with autosomal recessive congenital ichthyosis. (26220141)
2015
5
Update on autosomal recessive congenital ichthyosis: mRNA analysis using hair samples is a powerful tool for genetic diagnosis. (25982146)
2015
6
Otologic Manifestations of Autosomal Recessive Congenital Ichthyosis in Children. (26206273)
2015
7
A novel TGM1 mutation, leading to multiple splicing rearrangements, is associated with autosomal recessive congenital ichthyosis. (25754682)
2015
8
A novel deletion mutation in the ALOX12B gene in a Kurdish family with autosomal recessive congenital ichthyosis. (26575587)
2015
9
Oral manifestation of autosomal recessive congenital ichthyosis in a 2-year-old patient. (24995134)
2014
10
A mouse organotypic tissue culture model for autosomal recessive congenital ichthyosis. (25078898)
2014
11
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
12
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
13
Autosomal Recessive Congenital Ichthyosis in American Bulldogs Is Associated With NIPAL4 (ICHTHYIN) Deficiency. (25322746)
2014
14
Anti-laminin-I^1 Pemphigoid Developed in a Case of Autosomal Recessive Congenital Ichthyosis. (24733442)
2014
15
A novel mutation in the transglutaminase-1 gene in an autosomal recessive congenital ichthyosis patient. (25180191)
2014
16
Interactions between FATP4 and ichthyin in epidermal lipid processing may provide clues to the pathogenesis of autosomal recessive congenital ichthyosis. (23290633)
2013
17
Autosomal recessive congenital ichthyosis. (23562412)
2013
18
Identification of a novel PNPLA1 mutation in a Spanish family with autosomal recessive congenital ichthyosis. (24344921)
2013
19
Mutations in TGM1 in Ecuadorians with autosomal recessive congenital ichthyosis. (24261627)
2013
20
Impaired epidermal ceramide synthesis causes autosomal recessive congenital ichthyosis and reveals the importance of ceramide acyl chain length. (23549421)
2013
21
Identifying a Hyperkeratosis Signature in Autosomal Recessive Congenital Ichthyosis: Mdm2 Inhibition Prevents Hyperkeratosis in a Rat ARCI Model. (24005053)
2013
22
The sound of silence: autosomal recessive congenital ichthyosis caused by a synonymous mutation in ABCA12. (23528209)
2013
23
Non-syndromic autosomal recessive congenital ichthyosis in the Israeli population. (23621129)
2013
24
Different TGM1 mutation spectra in Italian and Portuguese patients with autosomal recessive congenital ichthyosis: evidence of founder effects in Portugal. (23278109)
2013
25
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
26
PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans. (22246504)
2012
27
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
28
Prevalence of autosomal recessive congenital ichthyosis: a population-based study using the capture-recapture method in Spain. (22000705)
2012
29
A mutation in LIPN, encoding epidermal lipase N, causes a late-onset form of autosomal-recessive congenital ichthyosis. (21439540)
2011
30
Autosomal recessive congenital ichthyosis maps to chromosome 15q26.3 in an isolated aboriginal population from southern Taiwan. (21093221)
2011
31
Nonsense mutation in the ALOX12B gene leads to autosomal recessive congenital ichthyosis in a Lebanese family. (19694890)
2010
32
Type I transglutaminase accumulation in the endoplasmic reticulum may be an underlying cause of autosomal recessive congenital ichthyosis. (20663883)
2010
33
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
34
ABCA12 mutations and autosomal recessive congenital ichthyosis: a review of genotype/phenotype correlations and of pathogenetic concepts. (20672373)
2010
35
Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12B. (19131948)
2009
36
Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA. (18948357)
2009
37
Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling of TGase-1. (19241467)
2009
38
Autosomal recessive congenital ichthyosis and congenital hypothyroidism in a Tunisian patient with a nonsense mutation in TGM1. (19556108)
2009
39
Autosomal recessive congenital ichthyosis. (19434086)
2009
40
Novel mutations in ALOX12B in patients with autosomal recessive congenital ichthyosis and evidence for genetic heterogeneity on chromosome 17p13. (17139268)
2007
41
Transglutaminase 1 deficiency and corneocyte collapse: an indication for targeted molecular screening in autosomal recessive congenital ichthyosis. (17635512)
2007
42
Mutation spectrum and functional analysis of epidermis-type lipoxygenases in patients with autosomal recessive congenital ichthyosis. (16116617)
2005
43
Mutations in transglutaminase 1 gene in autosomal recessive congenital ichthyosis in Egyptian families. (15665393)
2004
44
Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis. (15317751)
2004
45
Autosomal recessive congenital ichthyosis in Sweden and Estonia: clinical, genetic and ultrastructural findings in eighty-three patients. (12636018)
2003
46
Identification, by homozygosity mapping, of a novel locus for autosomal recessive congenital ichthyosis on chromosome 17p, and evidence for further genetic heterogeneity. (11398099)
2001
47
Assignment of a novel locus for autosomal recessive congenital ichthyosis to chromosome 19p13.1-p13.2. (10712223)
2000
48
Clinical and morphological correlations for transglutaminase 1 gene mutations in autosomal recessive congenital ichthyosis. (10482949)
1999
49
Transglutaminase 1 mutations in autosomal recessive congenital ichthyosis: private and recurrent mutations in an isolated population. (9326318)
1997
50
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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Search GEO for disease gene expression data for Autosomal Recessive Congenital Ichthyosis.

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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1epidermal lamellar bodyGO:00972099.9ABCA12, SPINK5

Biological processes related to Autosomal Recessive Congenital Ichthyosis according to GeneCards Suite gene sharing:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1establishment of skin barrierGO:006143610.3ABCA12, ALOX12B, ALOXE3
2ceramide biosynthetic processGO:004651310.1ALOX12B, ALOXE3, CERS3
3hepoxilin biosynthetic processGO:005112210.0ALOX12B, ALOX15B, ALOXE3
4sphingolipid metabolic processGO:000666510.0ALOX12B, ALOXE3, CERS3
5lipoxygenase pathwayGO:00193729.9ALOX12B, ALOX15B, ALOXE3
6keratinocyte differentiationGO:00302169.4ABCA12, CERS3, ST14, TGM1
7arachidonic acid metabolic processGO:00193699.4ALOX12B, ALOX15B, ALOXE3
8linoleic acid metabolic processGO:00436519.3ALOX12B, ALOX15B, ALOXE3
9magnesium ion transportGO:00156939.3NIPA1, NIPA2, NIPAL2, NIPAL4
10magnesium ion transmembrane transportGO:19038309.3NIPA1, NIPA2, NIPAL2, NIPAL4
11lipid metabolic processGO:00066298.5ALOX15B, LIPN, PNPLA1, SLC27A4

Molecular functions related to Autosomal Recessive Congenital Ichthyosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygenGO:00167029.8ALOX12B, ALOX15B, ALOXE3
2magnesium ion transmembrane transporter activityGO:00150959.3NIPA1, NIPA2, NIPAL2, NIPAL4
3iron ion bindingGO:00055069.1ALOX12B, ALOX15B, ALOXE3, CYP4F22

Sources for Autosomal Recessive Congenital Ichthyosis

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet