MCID: ATS013
MIFTS: 41

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:
22GeneReviews, 23GeneTests, 52Orphanet, 66UMLS, 29ICD10 via Orphanet, 67UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Autosomal Recessive Congenital Ichthyosis:

Name: Autosomal Recessive Congenital Ichthyosis 22 23
Non-Bullous Congenital Ichthyosiform Erythroderma 23 52
Congenital Lamellar Ichthyosis, Autosomal Recessive 23
Congenital Non-Bullous Ichthyosiform Erythroderma 52
Autosomal Recessive Lamellar Ichthyosis 23
 
Ichthyosiform Erythroderma, Congenital 66
Congenital Ichthyosiform Erythroderma 23
Erythrodermic Ichthyosis 52
Collodion Baby 23
Cie 52

Characteristics:

Orphanet epidemiological data:

52
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: 52 
Rare skin diseases


External Ids:

Orphanet52 ORPHA79394
ICD10 via Orphanet29 Q80.2
UMLS via Orphanet67 C0079154

Summaries for Autosomal Recessive Congenital Ichthyosis

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MalaCards based summary: Autosomal Recessive Congenital Ichthyosis, also known as non-bullous congenital ichthyosiform erythroderma, is related to ichthyosis, autosomal recessive 4b and acral self-healing collodion baby, and has symptoms including abnormality of the eyelid, hypohidrosis and pruritus. 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 eye, and related mouse phenotypes are integument and homeostasis/metabolism.

GeneReviews summary 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
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 33)
idRelated DiseaseScoreTop Affiliating Genes
1ichthyosis, autosomal recessive 4b30.9ABCA12, TGM1
2acral self-healing collodion baby12.3
3abca12-related autosomal recessive congenital ichthyosis12.0
4alox12b-related autosomal recessive congenital ichthyosis12.0
5aloxe3-related autosomal recessive congenital ichthyosis12.0
6cyp4f22-related autosomal recessive congenital ichthyosis12.0
7pnpla1-related autosomal recessive congenital ichthyosis12.0
8tgm1-related autosomal recessive congenital ichthyosis12.0
9congenital ichthyosiform erythroderma11.7
10ichthyosis, congenital, autosomal recessive 111.5
11ichthyosis, congenital, autosomal recessive 611.4
12ocular motility disease10.4ABCA12, TGM1
13normal pressure hydrocephalus10.4ABCA12, TGM1
14cerebroretinal microangiopathy with calcifications and cysts10.3ALOX12B, ALOXE3, TGM1
15diastrophic dysplasia10.3SPINK5, TGM1
16uterine ligament clear cell adenocarcinoma10.3ABCA12, TGM1
17ichthyosis, congenital, autosomal recessive 4a10.2
18ichthyosis, congenital, autosomal recessive 1010.2
19ichthyosis, congenital, autosomal recessive 810.2
20ichthyosis, congenital, autosomal recessive 1110.2
21ichthyosis, congenital, autosomal recessive 910.2
22ichthyosis, congenital, autosomal recessive 210.2
23ichthyosis, congenital, autosomal recessive 310.2
24ichthyosis, congenital, autosomal recessive 510.2
25ichthyosis, congenital, autosomal recessive 710.2
26ichthyosis vulgaris10.1ABCA12, TGM1
27congenital hypothyroidism10.0
28hypothyroidism10.0
29dysferlinopathy10.0
30netherton syndrome9.9
31ichthyosis prematurity syndrome9.9
32steroid inherited metabolic disorder8.2ABCA12, ALOX12B, ALOXE3, CERS3, CYP4F22, LIPN
33bscl2-related neurologic disorders/seipinopathy4.6ABCA12, 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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Symptoms:

 52 (show all 13)
  • hearing impairment
  • keratitis
  • ectropion
  • hypohidrosis
  • palmoplantar keratoderma
  • pruritus
  • erythroderma
  • failure to thrive
  • alopecia
  • abnormality of the nail
  • short stature
  • ichthyosis
  • corneal erosion

HPO human phenotypes related to Autosomal Recessive Congenital Ichthyosis:

(show all 11)
id Description Frequency HPO Source Accession
1 abnormality of the eyelid hallmark (90%) HP:0000492
2 hypohidrosis hallmark (90%) HP:0000966
3 pruritus hallmark (90%) HP:0000989
4 ichthyosis hallmark (90%) HP:0008064
5 hearing impairment typical (50%) HP:0000365
6 palmoplantar keratoderma typical (50%) HP:0000982
7 alopecia typical (50%) HP:0001596
8 abnormality of the nail typical (50%) HP:0001597
9 inflammatory abnormality of the eye typical (50%) HP:0100533
10 corneal erosion typical (50%) HP:0200020
11 short stature occasional (7.5%) HP:0004322

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 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 Ichthyosis23 TGM1

Anatomical Context for Autosomal Recessive Congenital Ichthyosis

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MalaCards organs/tissues related to Autosomal Recessive Congenital Ichthyosis:

34
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:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.5ABCA12, ALOX12B, ALOXE3, CERS3, SLC27A4, SPINK5
2MP:00053767.4ABCA12, 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 62)
idTitleAuthorsYear
1
Morphological alterations in two siblings with autosomal recessive congenital ichthyosis associated with CYP4F22 mutations. (27449533)
2016
2
Isotretinoin treatment of autosomal recessive congenital ichthyosis complicated by coexisting dysferlinopathy. (26620441)
2016
3
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
4
Functional study of TGM1 missense mutations in autosomal recessive congenital ichthyosis. (26990434)
2016
5
Whole exome analysis reveals a novel missense PNPLA1 variant that causes autosomal recessive congenital ichthyosis in a Pakistani family. (26778108)
2016
6
Spectrum of Autosomal Recessive Congenital Ichthyosis in Scandinavia: Clinical Characteristics and Novel and Recurrent Mutations in 132 Patients. (27025581)
2016
7
Two Cases of Autosomal Recessive Congenital Ichthyosis due to CYP4F22 Mutations: Expanding the Genotype of Self-Healing Collodion Baby. (26646773)
2016
8
Novel mutations in TGM1 and ABCA12 cause autosomal recessive congenital ichthyosis in five Saudi families. (27061915)
2016
9
Otologic Manifestations of Autosomal Recessive Congenital Ichthyosis in Children. (26206273)
2015
10
A novel deletion mutation in the ALOX12B gene in a Kurdish family with autosomal recessive congenital ichthyosis. (26575587)
2015
11
Novel mutation in NIPAL4 in a Romanian family with autosomal recessive congenital ichthyosis. (26456858)
2015
12
Mutation study for 9 genes in 23 unrelated patients with autosomal recessive congenital ichthyosis in Japan and Malaysia. (25766764)
2015
13
Novel mutations in the genes TGM1 and ALOXE3 underlying autosomal recessive congenital ichthyosis. (26578203)
2015
14
Identification and functional characterization of a novel transglutaminase 1 gene mutation associated with autosomal recessive congenital ichthyosis. (26220141)
2015
15
Update on autosomal recessive congenital ichthyosis: mRNA analysis using hair samples is a powerful tool for genetic diagnosis. (25982146)
2015
16
A novel TGM1 mutation, leading to multiple splicing rearrangements, is associated with autosomal recessive congenital ichthyosis. (25754682)
2015
17
A novel mutation in the transglutaminase-1 gene in an autosomal recessive congenital ichthyosis patient. (25180191)
2014
18
Oral manifestation of autosomal recessive congenital ichthyosis in a 2-year-old patient. (24995134)
2014
19
A mouse organotypic tissue culture model for autosomal recessive congenital ichthyosis. (25078898)
2014
20
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
21
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
22
Interactions between FATP4 and ichthyin in epidermal lipid processing may provide clues to the pathogenesis of autosomal recessive congenital ichthyosis. (23290633)
2013
23
Identification of a novel PNPLA1 mutation in a Spanish family with autosomal recessive congenital ichthyosis. (24344921)
2013
24
Mutations in TGM1 in Ecuadorians with autosomal recessive congenital ichthyosis. (24261627)
2013
25
Identifying a Hyperkeratosis Signature in Autosomal Recessive Congenital Ichthyosis: Mdm2 Inhibition Prevents Hyperkeratosis in a Rat ARCI Model. (24005053)
2013
26
The sound of silence: autosomal recessive congenital ichthyosis caused by a synonymous mutation in ABCA12. (23528209)
2013
27
Non-syndromic autosomal recessive congenital ichthyosis in the Israeli population. (23621129)
2013
28
Mutations in CERS3 cause autosomal recessive congenital ichthyosis in humans. (23754960)
2013
29
Autosomal recessive congenital ichthyosis. (23562412)
2013
30
Impaired epidermal ceramide synthesis causes autosomal recessive congenital ichthyosis and reveals the importance of ceramide acyl chain length. (23549421)
2013
31
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
32
PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans. (22246504)
2012
33
A mutation in LIPN, encoding epidermal lipase N, causes a late-onset form of autosomal-recessive congenital ichthyosis. (21439540)
2011
34
Autosomal recessive congenital ichthyosis maps to chromosome 15q26.3 in an isolated aboriginal population from southern Taiwan. (21093221)
2011
35
Analysis of TGM1, ALOX12B, ALOXE3, NIPAL4 and CYP4F22 in autosomal recessive congenital ichthyosis from Galicia (NW Spain): evidence of founder effects. (21668430)
2011
36
Type I transglutaminase accumulation in the endoplasmic reticulum may be an underlying cause of autosomal recessive congenital ichthyosis. (20663883)
2010
37
ABCA12 mutations and autosomal recessive congenital ichthyosis: a review of genotype/phenotype correlations and of pathogenetic concepts. (20672373)
2010
38
Nonsense mutation in the ALOX12B gene leads to autosomal recessive congenital ichthyosis in a Lebanese family. (19694890)
2010
39
Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12B. (19131948)
2009
40
Autosomal recessive congenital ichthyosis and congenital hypothyroidism in a Tunisian patient with a nonsense mutation in TGM1. (19556108)
2009
41
Autosomal recessive congenital ichthyosis. (19434086)
2009
42
Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA. (18948357)
2009
43
Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling of TGase-1. (19241467)
2009
44
Novel mutations in ALOX12B in patients with autosomal recessive congenital ichthyosis and evidence for genetic heterogeneity on chromosome 17p13. (17139268)
2007
45
Mutations in transglutaminase 1 gene in autosomal recessive congenital ichthyosis in Egyptian families. (15665393)
2004
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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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
9.3ALOX12B, ALOX15B, CYP4F22
38.5NIPA1, NIPA2, NIPAL2, NIPAL4
4
Show member pathways
7.8ABCA12, 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:005508810.2ABCA12, PNPLA1
3hepoxilin biosynthetic processGO:00511229.9ALOX12B, ALOX15B, ALOXE3
4lipoxygenase pathwayGO:00193729.9ALOX12B, ALOX15B, ALOXE3
5establishment of skin barrierGO:00614369.8ABCA12, ALOX12B, ALOXE3
6keratinocyte differentiationGO:00302169.7ABCA12, CERS3, ST14, TGM1
7linoleic acid metabolic processGO:00436519.5ALOX12B, ALOX15B, ALOXE3
8ceramide biosynthetic processGO:00465139.5ALOX12B, ALOXE3, CERS3
9arachidonic acid metabolic processGO:00193699.4ALOX12B, ALOX15B, ALOXE3
10magnesium ion transportGO:00156938.8NIPA1, NIPA2, NIPAL2, NIPAL4
11magnesium ion transmembrane transportGO:19038308.8NIPA1, 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:00055069.1ALOX12B, ALOX15B, ALOXE3, CYP4F22
3magnesium ion transmembrane transporter activityGO:00150958.9NIPA1, NIPA2, NIPAL2, NIPAL4

Sources for Autosomal Recessive Congenital Ichthyosis

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet