MCID: ATS013
MIFTS: 46

Autosomal Recessive Congenital Ichthyosis malady

Categories: Genetic diseases, Skin diseases, Rare diseases

Aliases & Classifications for Autosomal Recessive Congenital Ichthyosis

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Sources:
22GeneTests, 21GeneReviews, 51Orphanet, 65UMLS, 28ICD10 via Orphanet, 66UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Autosomal Recessive Congenital Ichthyosis:

Name: Autosomal Recessive Congenital Ichthyosis 21 22
Non-Bullous Congenital Ichthyosiform Erythroderma 22 51
Congenital Lamellar Ichthyosis, Autosomal Recessive 22
Congenital Non-Bullous Ichthyosiform Erythroderma 51
Autosomal Recessive Lamellar Ichthyosis 22
 
Ichthyosiform Erythroderma, Congenital 65
Congenital Ichthyosiform Erythroderma 22
Erythrodermic Ichthyosis 51
Collodion Baby 22
Cie 51

Characteristics:

Orphanet epidemiological data:

51
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: 51 
Rare skin diseases


External Ids:

Orphanet51 79394
ICD10 via Orphanet28 Q80.2
UMLS via Orphanet66 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, congenital, autosomal recessive 3 and ichthyosis, autosomal recessive 4b, 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, tonsil and eye, and related mouse phenotype integument.

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 37)
idRelated DiseaseScoreTop Affiliating Genes
1ichthyosis, congenital, autosomal recessive 331.0ALOX12B, ALOXE3, TGM1
2ichthyosis, autosomal recessive 4b30.9ABCA12, TGM1
3congenital ichthyosiform erythroderma12.7
4acral self-healing collodion baby12.3
5abca12-related autosomal recessive congenital ichthyosis12.0
6alox12b-related autosomal recessive congenital ichthyosis12.0
7aloxe3-related autosomal recessive congenital ichthyosis12.0
8cyp4f22-related autosomal recessive congenital ichthyosis12.0
9pnpla1-related autosomal recessive congenital ichthyosis12.0
10tgm1-related autosomal recessive congenital ichthyosis12.0
11epidermolytic hyperkeratosis12.0
12epidermolytic ichthyosis11.7
13ichthyosis, congenital, autosomal recessive 111.5
14ichthyosis, congenital, autosomal recessive 611.4
15diabetic polyneuropathy10.5ABCA12, TGM1
16spastic ectropion10.4ABCA12, TGM1
17ichthyosis, cyclic, with epidermolytic hyperkeratosis10.4ABCA12, TGM1
18fallopian tube clear cell adenocarcinoma10.3ABCA12, TGM1
19ichthyosis, congenital, autosomal recessive 4a10.3
20ichthyosis, congenital, autosomal recessive 1010.3
21ichthyosis, congenital, autosomal recessive 810.3
22ichthyosis, congenital, autosomal recessive 1110.3
23ichthyosis, congenital, autosomal recessive 910.3
24ichthyosis, congenital, autosomal recessive 210.3
25ichthyosis, congenital, autosomal recessive 510.3
26ichthyosis, congenital, autosomal recessive 710.2
27ichthyosis vulgaris10.1ABCA12, ALOX12B, ALOXE3, TGM1
28small intestine lymphoma10.1ABCA12, SPINK5, TGM1
29diastrophic dysplasia10.0SPINK5, TGM1
30congenital hypothyroidism10.0
31hypothyroidism10.0
32dysferlinopathy10.0
33netherton syndrome10.0
34ichthyosis prematurity syndrome10.0
35roifman-chitayat syndrome9.5NIPA1, NIPA2, NIPAL4
36endocrine gland cancer8.3ABCA12, ALOX12B, ALOXE3, CERS3, CYP4F22, LIPN
37brca1 and brca2 hereditary breast and ovarian cancer4.7ABCA12, 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:

 51 (show all 14)
  • ectropion/entropion/eyelid eversion
  • hypohidrosis/decreased sweating/thermoregulation disorder/heat intolerance
  • ichthyosis/ichthyosiform dermatitis
  • erythema/erythematous lesions/erythroderma/polymorphous erythema
  • pruritus/itching
  • autosomal recessive inheritance
  • corneal ulceration/perforation
  • chronic uveitis/blepharitis/episcleritis/scleritis/conjonctivitis/keratitis
  • hearing loss/hypoacusia/deafness
  • palmoplantar hyperkeratosis/keratoderma
  • alopecia
  • nails anomalies
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • short stature/dwarfism/nanism

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1EmollientsPhase 3121
2Dermatologic AgentsPhase 34555

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, Tonsil, Eye, T cells, Temporal lobe, Cardiac myocytes, Endothelial

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:00107718.3ABCA12, 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 59)
idTitleAuthorsYear
1
Functional study of TGM1 missense mutations in autosomal recessive congenital ichthyosis. (26990434)
2016
2
Whole exome analysis reveals a novel missense PNPLA1 variant that causes autosomal recessive congenital ichthyosis in a Pakistani family. (26778108)
2016
3
Isotretinoin treatment of autosomal recessive congenital ichthyosis complicated by coexisting dysferlinopathy. (26620441)
2016
4
Spectrum of Autosomal Recessive Congenital Ichthyosis in Scandinavia: Clinical Characteristics and Novel and Recurrent Mutations in 132 Patients. (27025581)
2016
5
Two Cases of Autosomal Recessive Congenital Ichthyosis due to CYP4F22 Mutations: Expanding the Genotype of Self-Healing Collodion Baby. (26646773)
2016
6
Novel mutations in TGM1 and ABCA12 cause autosomal recessive congenital ichthyosis in five Saudi families. (27061915)
2016
7
Novel mutation in NIPAL4 in a Romanian family with autosomal recessive congenital ichthyosis. (26456858)
2015
8
Mutation study for 9 genes in 23 unrelated patients with autosomal recessive congenital ichthyosis in Japan and Malaysia. (25766764)
2015
9
Novel mutations in the genes TGM1 and ALOXE3 underlying autosomal recessive congenital ichthyosis. (26578203)
2015
10
Identification and functional characterization of a novel transglutaminase 1 gene mutation associated with autosomal recessive congenital ichthyosis. (26220141)
2015
11
Update on autosomal recessive congenital ichthyosis: mRNA analysis using hair samples is a powerful tool for genetic diagnosis. (25982146)
2015
12
Otologic Manifestations of Autosomal Recessive Congenital Ichthyosis in Children. (26206273)
2015
13
A novel TGM1 mutation, leading to multiple splicing rearrangements, is associated with autosomal recessive congenital ichthyosis. (25754682)
2015
14
A novel deletion mutation in the ALOX12B gene in a Kurdish family with autosomal recessive congenital ichthyosis. (26575587)
2015
15
Oral manifestation of autosomal recessive congenital ichthyosis in a 2-year-old patient. (24995134)
2014
16
A mouse organotypic tissue culture model for autosomal recessive congenital ichthyosis. (25078898)
2014
17
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
18
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
19
Autosomal Recessive Congenital Ichthyosis in American Bulldogs Is Associated With NIPAL4 (ICHTHYIN) Deficiency. (25322746)
2014
20
Interactions between FATP4 and ichthyin in epidermal lipid processing may provide clues to the pathogenesis of autosomal recessive congenital ichthyosis. (23290633)
2013
21
Autosomal recessive congenital ichthyosis. (23562412)
2013
22
Identification of a novel PNPLA1 mutation in a Spanish family with autosomal recessive congenital ichthyosis. (24344921)
2013
23
Mutations in TGM1 in Ecuadorians with autosomal recessive congenital ichthyosis. (24261627)
2013
24
Impaired epidermal ceramide synthesis causes autosomal recessive congenital ichthyosis and reveals the importance of ceramide acyl chain length. (23549421)
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
Different TGM1 mutation spectra in Italian and Portuguese patients with autosomal recessive congenital ichthyosis: evidence of founder effects in Portugal. (23278109)
2013
29
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
30
PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans. (22246504)
2012
31
A mutation in LIPN, encoding epidermal lipase N, causes a late-onset form of autosomal-recessive congenital ichthyosis. (21439540)
2011
32
Autosomal recessive congenital ichthyosis maps to chromosome 15q26.3 in an isolated aboriginal population from southern Taiwan. (21093221)
2011
33
Analysis of TGM1, ALOX12B, ALOXE3, NIPAL4 and CYP4F22 in autosomal recessive congenital ichthyosis from Galicia (NW Spain): evidence of founder effects. (21668430)
2011
34
Nonsense mutation in the ALOX12B gene leads to autosomal recessive congenital ichthyosis in a Lebanese family. (19694890)
2010
35
Type I transglutaminase accumulation in the endoplasmic reticulum may be an underlying cause of autosomal recessive congenital ichthyosis. (20663883)
2010
36
Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12B. (19131948)
2009
37
Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA. (18948357)
2009
38
Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling of TGase-1. (19241467)
2009
39
Autosomal recessive congenital ichthyosis and congenital hypothyroidism in a Tunisian patient with a nonsense mutation in TGM1. (19556108)
2009
40
Autosomal recessive congenital ichthyosis. (19434086)
2009
41
Novel mutations in ALOX12B in patients with autosomal recessive congenital ichthyosis and evidence for genetic heterogeneity on chromosome 17p13. (17139268)
2007
42
Transglutaminase 1 deficiency and corneocyte collapse: an indication for targeted molecular screening in autosomal recessive congenital ichthyosis. (17635512)
2007
43
Mutation spectrum and functional analysis of epidermis-type lipoxygenases in patients with autosomal recessive congenital ichthyosis. (16116617)
2005
44
Mutations in transglutaminase 1 gene in autosomal recessive congenital ichthyosis in Egyptian families. (15665393)
2004
45
Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis. (15317751)
2004
46
Autosomal recessive congenital ichthyosis in Sweden and Estonia: clinical, genetic and ultrastructural findings in eighty-three patients. (12636018)
2003
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.

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
38.8NIPA1, NIPA2, NIPAL2, NIPAL4
4
Show member pathways
8.2ABCA12, NIPA1, NIPA2, NIPAL2, NIPAL4, SLC27A4

GO Terms for genes affiliated with Autosomal Recessive Congenital Ichthyosis

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1linoleic acid metabolic processGO:004365110.4ALOX12B, ALOXE3
2hepoxilin biosynthetic processGO:005112210.4ALOX12B, ALOXE3
3keratinocyte differentiationGO:00302169.9ABCA12, TGM1
4lipoxygenase pathwayGO:00193729.8ALOX12B, ALOX15B, ALOXE3
5sphingolipid metabolic processGO:00066659.7ALOX12B, ALOXE3
6arachidonic acid metabolic processGO:00193699.6ALOX12B, ALOX15B
7magnesium ion transportGO:00156938.8NIPA1, NIPA2, NIPAL2, NIPAL4

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