MCID: ATS013
MIFTS: 42

Autosomal Recessive Congenital Ichthyosis malady

Categories: Genetic diseases, Skin diseases, Rare diseases, Fetal diseases

Aliases & Classifications for Autosomal Recessive Congenital Ichthyosis

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Sources:
11Disease Ontology, 23GeneReviews, 24GeneTests, 30ICD10 via Orphanet, 53Orphanet, 67UMLS, 68UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Autosomal Recessive Congenital Ichthyosis:

Name: Autosomal Recessive Congenital Ichthyosis 11 23 24
Non-Bullous Congenital Ichthyosiform Erythroderma 24 53
Congenital Lamellar Ichthyosis, Autosomal Recessive 24
Congenital Non-Bullous Ichthyosiform Erythroderma 53
Autosomal Recessive Lamellar Ichthyosis 24
Ichthyosiform Erythroderma, Congenital 67
 
Congenital Ichthyosiform Erythroderma 24
Erythrodermic Ichthyosis 53
Collodion Baby 24
Arci 11
Cie 53

Characteristics:

Orphanet epidemiological data:

53
non-bullous congenital ichthyosiform erythroderma:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal; Age of death: early childhood

Classifications:

Orphanet: 53 
Rare skin diseases


External Ids:

Disease Ontology11 DOID:0060655
Orphanet53 ORPHA79394
UMLS via Orphanet68 C0079154
ICD10 via Orphanet30 Q80.2

Summaries for Autosomal Recessive Congenital Ichthyosis

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Disease Ontology:11 A skin disease that is characterized by autosomal recessive inheritance and abnormal skin scaling over the whole body due to a defect in keratinization.

MalaCards based summary: Autosomal Recessive Congenital Ichthyosis, also known as non-bullous congenital ichthyosiform erythroderma, is related to ichthyosis, autosomal recessive 4b and congenital ichthyosiform erythroderma, and has symptoms including abnormality of the eyelid, hypohidrosis and pruritus. An important gene associated with Autosomal Recessive Congenital Ichthyosis is ALOX12B (Arachidonate 12-Lipoxygenase, 12R Type), and among its related pathways are Prostaglandin 2 biosynthesis and metabolism FM and Arachidonic acid metabolism. Affiliated tissues include skin and eye, and related mouse phenotypes are integument and homeostasis/metabolism.

GeneReviews for NBK1420

Related Diseases for Autosomal Recessive Congenital Ichthyosis

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Diseases in the Ichthyosis, Acquired 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 Abca12-Related Autosomal Recessive Congenital Ichthyosis
Lipn-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 all 35)
idRelated DiseaseScoreTop Affiliating Genes
1ichthyosis, autosomal recessive 4b33.1ABCA12, TGM1
2congenital ichthyosiform erythroderma12.6
3acral self-healing collodion baby12.2
4epidermolytic hyperkeratosis12.1
5abca12-related autosomal recessive congenital ichthyosis11.9
6lipn-related autosomal recessive congenital ichthyosis11.9
7alox12b-related autosomal recessive congenital ichthyosis11.9
8aloxe3-related autosomal recessive congenital ichthyosis11.9
9cyp4f22-related autosomal recessive congenital ichthyosis11.9
10pnpla1-related autosomal recessive congenital ichthyosis11.9
11tgm1-related autosomal recessive congenital ichthyosis11.9
12ichthyosis, congenital, autosomal recessive 111.8
13ichthyosis, congenital, autosomal recessive 611.8
14ichthyosis, congenital, autosomal recessive 4a11.7
15ichthyosis, congenital, autosomal recessive 1011.7
16ichthyosis, congenital, autosomal recessive 811.7
17ichthyosis, congenital, autosomal recessive 1111.7
18ichthyosis, congenital, autosomal recessive 211.7
19ichthyosis, congenital, autosomal recessive 311.7
20ichthyosis, congenital, autosomal recessive 511.7
21ichthyosis, congenital, autosomal recessive 911.7
22ichthyosis, congenital, autosomal recessive 711.6
23netherton syndrome10.8
24ichthyosis prematurity syndrome10.8
25ocular motility disease10.4ABCA12, TGM1
26normal pressure hydrocephalus10.3ABCA12, TGM1
27cerebroretinal microangiopathy with calcifications and cysts10.3ALOX12B, ALOXE3, TGM1
28diastrophic dysplasia10.2SPINK5, TGM1
29uterine ligament clear cell adenocarcinoma10.2ABCA12, TGM1
30ichthyosis vulgaris10.1ABCA12, TGM1
31congenital hypothyroidism9.9
32hypothyroidism9.9
33dysferlinopathy9.9
34steroid inherited metabolic disorder8.4ABCA12, ALOX12B, ALOXE3, CERS3, CYP4F22, LIPN
35bscl2-related neurologic disorders/seipinopathy5.2ABCA12, ALOX12B, ALOX15B, ALOXE3, CERS3, CYP4F22

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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Human phenotypes related to Autosomal Recessive Congenital Ichthyosis:

 63 53 (show all 15)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the eyelid63 hallmark (90%) HP:0000492
2 hypohidrosis63 53 hallmark (90%) Very frequent (99-80%) HP:0000966
3 pruritus63 53 hallmark (90%) Very frequent (99-80%) HP:0000989
4 ichthyosis63 53 hallmark (90%) Very frequent (99-80%) HP:0008064
5 hearing impairment63 53 typical (50%) Frequent (79-30%) HP:0000365
6 palmoplantar keratoderma63 53 typical (50%) Frequent (79-30%) HP:0000982
7 alopecia63 53 typical (50%) Frequent (79-30%) HP:0001596
8 abnormality of the nail63 53 typical (50%) Frequent (79-30%) HP:0001597
9 inflammatory abnormality of the eye63 typical (50%) HP:0100533
10 corneal erosion63 53 typical (50%) Frequent (79-30%) HP:0200020
11 short stature63 53 occasional (7.5%) Occasional (29-5%) HP:0004322
12 keratitis53 Frequent (79-30%)
13 ectropion53 Very frequent (99-80%)
14 erythroderma53 Very frequent (99-80%)
15 failure to thrive53 Frequent (79-30%)

Drugs & Therapeutics for Autosomal Recessive Congenital Ichthyosis

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Treatment of the Recessive Nonbullous Congenital Ichthyosis by the Epigallocatechine CutaneousUnknown statusNCT01222000Phase 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 Ichthyosis24 TGM1

Anatomical Context for Autosomal Recessive Congenital Ichthyosis

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MalaCards organs/tissues related to Autosomal Recessive Congenital Ichthyosis:

35
Skin, Eye

Animal Models for Autosomal Recessive Congenital Ichthyosis or affiliated genes

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MGI Mouse Phenotypes related to Autosomal Recessive Congenital Ichthyosis:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.2ABCA12, ALOX12B, ALOXE3, CERS3, SLC27A4, SPINK5
2MP:00053768.1ABCA12, ALOX12B, ALOXE3, CERS3, LAMC1, NIPA1

Publications for Autosomal Recessive Congenital Ichthyosis

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Articles related to Autosomal Recessive Congenital Ichthyosis:

(show top 50)    (show all 65)
idTitleAuthorsYear
1
Two missense mutations in CYP4F22 in autosomal recessive congenital ichthyosis. (27735052)
2017
2
Calpain 12 Function Revealed through the Study of an Atypical Case of Autosomal Recessive Congenital Ichthyosis. (27769845)
2017
3
Morphological alterations in two siblings with autosomal recessive congenital ichthyosis associated with CYP4F22 mutations. (27449533)
2016
4
Isotretinoin treatment of autosomal recessive congenital ichthyosis complicated by coexisting dysferlinopathy. (26620441)
2016
5
Gene-Targeted Next Generation Sequencing Identifies PNPLA1 Mutations in Patients with a Phenotypic Spectrum of Autosomal Recessive Congenital Ichthyosis: The Impact of Consanguinity. (27884779)
2016
6
Comparing histopathology from patients with X-linked recessive ichthyosis and autosomal recessive congenital ichthyosis with transglutaminase 1 mutation: A report from the National Registry for Ichthyosis and Related Skin Disorders. (27085231)
2016
7
Functional study of TGM1 missense mutations in autosomal recessive congenital ichthyosis. (26990434)
2016
8
Whole exome analysis reveals a novel missense PNPLA1 variant that causes autosomal recessive congenital ichthyosis in a Pakistani family. (26778108)
2016
9
Spectrum of Autosomal Recessive Congenital Ichthyosis in Scandinavia: Clinical Characteristics and Novel and Recurrent Mutations in 132 Patients. (27025581)
2016
10
Two Cases of Autosomal Recessive Congenital Ichthyosis due to CYP4F22 Mutations: Expanding the Genotype of Self-Healing Collodion Baby. (26646773)
2016
11
Novel mutations in TGM1 and ABCA12 cause autosomal recessive congenital ichthyosis in five Saudi families. (27061915)
2016
12
Otologic Manifestations of Autosomal Recessive Congenital Ichthyosis in Children. (26206273)
2015
13
A novel deletion mutation in the ALOX12B gene in a Kurdish family with autosomal recessive congenital ichthyosis. (26575587)
2015
14
Novel mutation in NIPAL4 in a Romanian family with autosomal recessive congenital ichthyosis. (26456858)
2015
15
Mutation study for 9 genes in 23 unrelated patients with autosomal recessive congenital ichthyosis in Japan and Malaysia. (25766764)
2015
16
Novel mutations in the genes TGM1 and ALOXE3 underlying autosomal recessive congenital ichthyosis. (26578203)
2015
17
Identification and functional characterization of a novel transglutaminase 1 gene mutation associated with autosomal recessive congenital ichthyosis. (26220141)
2015
18
Update on autosomal recessive congenital ichthyosis: mRNA analysis using hair samples is a powerful tool for genetic diagnosis. (25982146)
2015
19
A novel TGM1 mutation, leading to multiple splicing rearrangements, is associated with autosomal recessive congenital ichthyosis. (25754682)
2015
20
A novel mutation in the transglutaminase-1 gene in an autosomal recessive congenital ichthyosis patient. (25180191)
2014
21
Oral manifestation of autosomal recessive congenital ichthyosis in a 2-year-old patient. (24995134)
2014
22
A mouse organotypic tissue culture model for autosomal recessive congenital ichthyosis. (25078898)
2014
23
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
24
Interactions between FATP4 and ichthyin in epidermal lipid processing may provide clues to the pathogenesis of autosomal recessive congenital ichthyosis. (23290633)
2013
25
Identification of a novel PNPLA1 mutation in a Spanish family with autosomal recessive congenital ichthyosis. (24344921)
2013
26
Mutations in TGM1 in Ecuadorians with autosomal recessive congenital ichthyosis. (24261627)
2013
27
Identifying a Hyperkeratosis Signature in Autosomal Recessive Congenital Ichthyosis: Mdm2 Inhibition Prevents Hyperkeratosis in a Rat ARCI Model. (24005053)
2013
28
The sound of silence: autosomal recessive congenital ichthyosis caused by a synonymous mutation in ABCA12. (23528209)
2013
29
Non-syndromic autosomal recessive congenital ichthyosis in the Israeli population. (23621129)
2013
30
Mutations in CERS3 cause autosomal recessive congenital ichthyosis in humans. (23754960)
2013
31
Autosomal recessive congenital ichthyosis. (23562412)
2013
32
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
33
PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans. (22246504)
2012
34
A mutation in LIPN, encoding epidermal lipase N, causes a late-onset form of autosomal-recessive congenital ichthyosis. (21439540)
2011
35
Autosomal recessive congenital ichthyosis maps to chromosome 15q26.3 in an isolated aboriginal population from southern Taiwan. (21093221)
2011
36
Analysis of TGM1, ALOX12B, ALOXE3, NIPAL4 and CYP4F22 in autosomal recessive congenital ichthyosis from Galicia (NW Spain): evidence of founder effects. (21668430)
2011
37
Type I transglutaminase accumulation in the endoplasmic reticulum may be an underlying cause of autosomal recessive congenital ichthyosis. (20663883)
2010
38
ABCA12 mutations and autosomal recessive congenital ichthyosis: a review of genotype/phenotype correlations and of pathogenetic concepts. (20672373)
2010
39
Nonsense mutation in the ALOX12B gene leads to autosomal recessive congenital ichthyosis in a Lebanese family. (19694890)
2010
40
Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12B. (19131948)
2009
41
Autosomal recessive congenital ichthyosis and congenital hypothyroidism in a Tunisian patient with a nonsense mutation in TGM1. (19556108)
2009
42
Autosomal recessive congenital ichthyosis. (19434086)
2009
43
Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA. (18948357)
2009
44
Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling of TGase-1. (19241467)
2009
45
Novel mutations in ALOX12B in patients with autosomal recessive congenital ichthyosis and evidence for genetic heterogeneity on chromosome 17p13. (17139268)
2007
46
Autosomal recessive congenital ichthyosis in Sweden and Estonia: clinical, genetic and ultrastructural findings in eighty-three patients. (12636018)
2003
47
Identification, by homozygosity mapping, of a novel locus for autosomal recessive congenital ichthyosis on chromosome 17p, and evidence for further genetic heterogeneity. (11398099)
2001
48
Assignment of a novel locus for autosomal recessive congenital ichthyosis to chromosome 19p13.1-p13.2. (10712223)
2000
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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Clinvar genetic disease variations for Autosomal Recessive Congenital Ichthyosis:

5
id Gene Variation Type Significance SNP ID Assembly Location
1NIPAL4NM_001099287.1(NIPAL4): c.527C> A (p.Ala176Asp)SNVPathogenicrs199422217GRCh37Chr 5, 156895736: 156895736
2TGM1NM_000359.2(TGM1): c.1223_1227delACACA (p.Asp408Valfs)deletionLikely pathogenic, Pathogenicrs398122905GRCh37Chr 14, 24727812: 24727816
3ALOX12BNM_001139.2(ALOX12B): c.1294C> T (p.Arg432Ter)SNVPathogenicrs397514527GRCh37Chr 17, 7980043: 7980043
4ALOX12BNM_001139.2(ALOX12B): c.1562A> G (p.Tyr521Cys)SNVPathogenicrs199766569GRCh37Chr 17, 7979005: 7979005

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.

Pathways for genes affiliated with Autosomal Recessive Congenital Ichthyosis

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

idSuper pathwaysScoreTop Affiliating Genes
110.0ALOX12B, ALOXE3
2
Show member pathways
9.5ALOX12B, ALOX15B, CYP4F22
38.7NIPA1, NIPA2, NIPAL2, NIPAL4
4
Show member pathways
8.0ABCA12, NIPA1, NIPA2, NIPAL2, NIPAL4, SLC27A4

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
1sphingolipid metabolic processGO:000666510.4ALOX12B, ALOXE3
2lipid homeostasisGO:005508810.3ABCA12, PNPLA1
3hepoxilin biosynthetic processGO:005112210.1ALOX12B, ALOX15B, ALOXE3
4lipoxygenase pathwayGO:001937210.0ALOX12B, ALOX15B, ALOXE3
5establishment of skin barrierGO:006143610.0ABCA12, ALOX12B, ALOXE3
6keratinocyte differentiationGO:00302169.7ABCA12, CERS3, ST14, TGM1
7linoleic acid metabolic processGO:00436519.7ALOX12B, ALOX15B, ALOXE3
8arachidonic acid metabolic processGO:00193699.5ALOX12B, ALOX15B, ALOXE3
9ceramide biosynthetic processGO:00465139.5ALOX12B, ALOXE3, CERS3
10magnesium ion transportGO:00156939.0NIPA1, NIPA2, NIPAL2, NIPAL4
11magnesium ion transmembrane transportGO:19038309.0NIPA1, NIPA2, NIPAL2, NIPAL4

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:001670210.5ALOX12B, ALOXE3
2iron ion bindingGO:00055069.2ALOX12B, ALOX15B, ALOXE3, CYP4F22
3magnesium ion transmembrane transporter activityGO:00150959.1NIPA1, NIPA2, NIPAL2, NIPAL4

Sources for Autosomal Recessive Congenital Ichthyosis

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet