CIE
MCID: ATS013
MIFTS: 45

Autosomal Recessive Congenital Ichthyosis (CIE) malady

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

Aliases & Classifications for Autosomal Recessive Congenital Ichthyosis

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Sources:
11Disease Ontology, 13DISEASES, 23GeneReviews, 24GeneTests, 31ICD10 via Orphanet, 54Orphanet, 68UMLS, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Autosomal Recessive Congenital Ichthyosis:

Name: Autosomal Recessive Congenital Ichthyosis 11 23 24 13
Non-Bullous Congenital Ichthyosiform Erythroderma 24 54
Congenital Lamellar Ichthyosis, Autosomal Recessive 24
Congenital Non-Bullous Ichthyosiform Erythroderma 54
Autosomal Recessive Lamellar Ichthyosis 24
Ichthyosiform Erythroderma, Congenital 68
 
Congenital Ichthyosiform Erythroderma 24
Erythrodermic Ichthyosis 54
Collodion Baby 24
Arci 11
Cie 54

Characteristics:

Orphanet epidemiological data:

54
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: 54 
Rare skin diseases


External Ids:

Disease Ontology11 DOID:0060655
Orphanet54 ORPHA79394
UMLS via Orphanet69 C0079154
ICD10 via Orphanet31 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 Array, Array and Array. 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 HETE and HPETE biosynthesis and metabolism. Affiliated tissues include skin, and related mouse phenotypes are homeostasis/metabolism and integument.

GeneReviews for NBK1420

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
Lipn-Related Autosomal Recessive Congenital Ichthyosis Pnpla1-Related Autosomal Recessive Congenital Ichthyosis
St14-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 43)
idRelated DiseaseScoreTop Affiliating Genes
1ichthyosis, autosomal recessive 4b33.0ABCA12, TGM1
2congenital ichthyosiform erythroderma12.6
3acral self-healing collodion baby12.2
4epidermolytic hyperkeratosis12.1
5abca12-related autosomal recessive congenital ichthyosis11.9
6alox12b-related autosomal recessive congenital ichthyosis11.9
7aloxe3-related autosomal recessive congenital ichthyosis11.9
8cers-related autosomal recessive congenital ichthyosis11.9
9cyp4f22-related autosomal recessive congenital ichthyosis11.9
10lipn-related autosomal recessive congenital ichthyosis11.9
11pnpla1-related autosomal recessive congenital ichthyosis11.9
12st14-related autosomal recessive congenital ichthyosis11.9
13tgm1-related autosomal recessive congenital ichthyosis11.9
14ichthyosis, congenital, autosomal recessive 111.8
15ichthyosis, congenital, autosomal recessive 4a11.8
16ichthyosis, congenital, autosomal recessive 611.8
17ichthyosis, congenital, autosomal recessive 1111.8
18ichthyosis, congenital, autosomal recessive 1011.7
19ichthyosis, congenital, autosomal recessive 811.7
20ichthyosis, congenital, autosomal recessive 211.7
21ichthyosis, congenital, autosomal recessive 311.7
22ichthyosis, congenital, autosomal recessive 511.7
23ichthyosis, congenital, autosomal recessive 711.7
24ichthyosis, congenital, autosomal recessive 911.7
25netherton syndrome10.8
26ichthyosis prematurity syndrome10.8
27ichthyosis10.8
28hallucinogen abuse10.3ABCA12, TGM1
29velocardiofacial syndrome10.3ABCA12, TGM1
30warsaw breakage syndrome10.2SDR9C7, ST14
31communicating hydrocephalus10.2ABCA12, TGM1
32insulinoma10.2ALOX12B, ALOXE3, SPINK5, TGM1
33amyotrophic lateral sclerosis 1910.2ABCA12, ALOX12B, ALOXE3, NIPAL4, TGM1
34solitary bone cyst10.2ABCA12, SPINK5, TGM1
35cerebroretinal microangiopathy with calcifications and cysts10.2ALOX12B, ALOXE3, NIPAL4, SPINK5, TGM1
36trachea carcinoma in situ10.1ABCA12, ALOX12B
37steroid inherited metabolic disorder10.0ABCA12, ALOX12B, ALOXE3, CYP4F22, NIPAL4, PNPLA1
38preauricular tag, isolated, autosomal dominant, 19.9ABCA12, ALOX12B, ALOXE3, CYP4F22, NIPAL4, SDR9C7
39richter's syndrome9.9ABCA12, ALOX12B, ALOXE3, CERS3, CYP4F22, LIPN
40congenital hypothyroidism9.9
41hypothyroidism9.9
42dysferlinopathy9.9
43autosomal dominant nocturnal frontal lobe epilepsy9.2ABCA12, ALOX12B, ALOX15B, ALOXE3, CASP14, CERS3

Graphical network of the top 20 diseases related to Autosomal Recessive Congenital Ichthyosis:



Diseases related to autosomal recessive congenital ichthyosis

Symptoms & Phenotypes for Autosomal Recessive Congenital Ichthyosis

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Human phenotypes related to Autosomal Recessive Congenital Ichthyosis:

 54 64 (show all 13)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hearing impairment64 54 Frequent (79-30%) HP:0000365
2 keratitis64 54 Frequent (79-30%) HP:0000491
3 ectropion64 54 Very frequent (99-80%) HP:0000656
4 hypohidrosis64 54 Very frequent (99-80%) HP:0000966
5 palmoplantar keratoderma64 54 Frequent (79-30%) HP:0000982
6 pruritus64 54 Very frequent (99-80%) HP:0000989
7 erythroderma64 54 Very frequent (99-80%) HP:0001019
8 failure to thrive64 54 Frequent (79-30%) HP:0001508
9 alopecia64 54 Frequent (79-30%) HP:0001596
10 abnormality of the nail64 54 Frequent (79-30%) HP:0001597
11 short stature64 54 Occasional (29-5%) HP:0004322
12 ichthyosis64 54 Very frequent (99-80%) HP:0008064
13 corneal erosion64 54 Frequent (79-30%) HP:0200020

MGI Mouse Phenotypes related to Autosomal Recessive Congenital Ichthyosis according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053769.4ABCA12, ALOX12B, ALOXE3, CASP14, CERS3, LAMC1
2MP:00107719.2ABCA12, ALOX12B, ALOXE3, CASP14, CERS3, SLC27A4

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
1ImmunoglobulinsPhase 26394
2Antibodies, MonoclonalPhase 24039
3AntibodiesPhase 26394

Interventional clinical trials:

idNameStatusNCT IDPhase
1Treatment of the Recessive Nonbullous Congenital Ichthyosis by the Epigallocatechine CutaneousUnknown statusNCT01222000Phase 3
2The Efficacy and Safety of Secukinumab in Patients With IchthyosesRecruitingNCT03041038Phase 2

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:

36
Skin

Publications for Autosomal Recessive Congenital Ichthyosis

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Articles related to Autosomal Recessive Congenital Ichthyosis:

(show top 50)    (show all 64)
idTitleAuthorsYear
1
Calpain 12 Function Revealed through the Study of an Atypical Case of Autosomal Recessive Congenital Ichthyosis. (27769845)
2017
2
Two missense mutations in CYP4F22 in autosomal recessive congenital ichthyosis. (27735052)
2017
3
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
4
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
5
Mutations in SDR9C7 gene encoding an enzyme for vitamin A metabolism underlie autosomal recessive congenital ichthyosis. (27538420)
2016
6
Two Cases of Autosomal Recessive Congenital Ichthyosis due to CYP4F22 Mutations: Expanding the Genotype of Self-Healing Collodion Baby. (26646773)
2016
7
Whole exome analysis reveals a novel missense PNPLA1 variant that causes autosomal recessive congenital ichthyosis in a Pakistani family. (26778108)
2016
8
Morphological alterations in two siblings with autosomal recessive congenital ichthyosis associated with CYP4F22 mutations. (27449533)
2016
9
Spectrum of Autosomal Recessive Congenital Ichthyosis in Scandinavia: Clinical Characteristics and Novel and Recurrent Mutations in 132 Patients. (27025581)
2016
10
Autosomal recessive congenital ichthyosis due to PNPLA1 mutation in a golden retriever-poodle cross-bred dog and the effect of topical therapy. (27237723)
2016
11
Novel mutations in TGM1 and ABCA12 cause autosomal recessive congenital ichthyosis in five Saudi families. (27061915)
2016
12
Functional study of TGM1 missense mutations in autosomal recessive congenital ichthyosis. (26990434)
2016
13
Isotretinoin treatment of autosomal recessive congenital ichthyosis complicated by coexisting dysferlinopathy. (26620441)
2016
14
Otologic Manifestations of Autosomal Recessive Congenital Ichthyosis in Children. (26206273)
2015
15
A novel TGM1 mutation, leading to multiple splicing rearrangements, is associated with autosomal recessive congenital ichthyosis. (25754682)
2015
16
Novel mutations in the genes TGM1 and ALOXE3 underlying autosomal recessive congenital ichthyosis. (26578203)
2015
17
A novel deletion mutation in the ALOX12B gene in a Kurdish family with autosomal recessive congenital ichthyosis. (26575587)
2015
18
Novel mutation in NIPAL4 in a Romanian family with autosomal recessive congenital ichthyosis. (26456858)
2015
19
Update on autosomal recessive congenital ichthyosis: mRNA analysis using hair samples is a powerful tool for genetic diagnosis. (25982146)
2015
20
Mutation study for 9 genes in 23 unrelated patients with autosomal recessive congenital ichthyosis in Japan and Malaysia. (25766764)
2015
21
Identification and functional characterization of a novel transglutaminase 1 gene mutation associated with autosomal recessive congenital ichthyosis. (26220141)
2015
22
Anti-laminin-I^1 Pemphigoid Developed in a Case of Autosomal Recessive Congenital Ichthyosis. (24733442)
2014
23
Autosomal Recessive Congenital Ichthyosis in American Bulldogs Is Associated With NIPAL4 (ICHTHYIN) Deficiency. (25322746)
2014
24
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
25
A mouse organotypic tissue culture model for autosomal recessive congenital ichthyosis. (25078898)
2014
26
A novel mutation in the transglutaminase-1 gene in an autosomal recessive congenital ichthyosis patient. (25180191)
2014
27
Oral manifestation of autosomal recessive congenital ichthyosis in a 2-year-old patient. (24995134)
2014
28
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
29
Mutations in CERS3 cause autosomal recessive congenital ichthyosis in humans. (23754960)
2013
30
Mutations in TGM1 in Ecuadorians with autosomal recessive congenital ichthyosis. (24261627)
2013
31
Autosomal recessive congenital ichthyosis. (23562412)
2013
32
Identification of a novel PNPLA1 mutation in a Spanish family with autosomal recessive congenital ichthyosis. (24344921)
2013
33
Non-syndromic autosomal recessive congenital ichthyosis in the Israeli population. (23621129)
2013
34
Impaired epidermal ceramide synthesis causes autosomal recessive congenital ichthyosis and reveals the importance of ceramide acyl chain length. (23549421)
2013
35
Different TGM1 mutation spectra in Italian and Portuguese patients with autosomal recessive congenital ichthyosis: evidence of founder effects in Portugal. (23278109)
2013
36
Interactions between FATP4 and ichthyin in epidermal lipid processing may provide clues to the pathogenesis of autosomal recessive congenital ichthyosis. (23290633)
2013
37
Identifying a Hyperkeratosis Signature in Autosomal Recessive Congenital Ichthyosis: Mdm2 Inhibition Prevents Hyperkeratosis in a Rat ARCI Model. (24005053)
2013
38
The sound of silence: autosomal recessive congenital ichthyosis caused by a synonymous mutation in ABCA12. (23528209)
2013
39
Prevalence of autosomal recessive congenital ichthyosis: a population-based study using the capture-recapture method in Spain. (22000705)
2012
40
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
41
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
42
PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans. (22246504)
2012
43
A mutation in LIPN, encoding epidermal lipase N, causes a late-onset form of autosomal-recessive congenital ichthyosis. (21439540)
2011
44
Autosomal recessive congenital ichthyosis maps to chromosome 15q26.3 in an isolated aboriginal population from southern Taiwan. (21093221)
2011
45
Analysis of TGM1, ALOX12B, ALOXE3, NIPAL4 and CYP4F22 in autosomal recessive congenital ichthyosis from Galicia (NW Spain): evidence of founder effects. (21668430)
2011
46
Type I transglutaminase accumulation in the endoplasmic reticulum may be an underlying cause of autosomal recessive congenital ichthyosis. (20663883)
2010
47
ABCA12 mutations and autosomal recessive congenital ichthyosis: a review of genotype/phenotype correlations and of pathogenetic concepts. (20672373)
2010
48
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
49
Nonsense mutation in the ALOX12B gene leads to autosomal recessive congenital ichthyosis in a Lebanese family. (19694890)
2010
50
Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12B. (19131948)
2009

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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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:009720910.2ABCA12, SPINK5

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

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1lipid homeostasisGO:005508810.9ABCA12, PNPLA1
2establishment of skin barrierGO:006143610.8ABCA12, ALOX12B, ALOXE3
3ceramide biosynthetic processGO:004651310.8ALOX12B, ALOXE3, CERS3
4fatty acid metabolic processGO:000663110.8ALOX12B, ALOXE3, SLC27A4
5arachidonic acid metabolic processGO:001936910.8ALOX12B, ALOX15B, ALOXE3
6hepoxilin biosynthetic processGO:005112210.8ALOX12B, ALOX15B, ALOXE3
7linoleic acid metabolic processGO:004365110.8ALOX12B, ALOX15B, ALOXE3
8lipoxygenase pathwayGO:001937210.7ALOX12B, ALOX15B, ALOXE3
9keratinocyte differentiationGO:003021610.7ABCA12, CERS3, ST14, TGM1
10cornificationGO:007026810.5CASP14, SPINK5, ST14, TGM1
11magnesium ion transmembrane transportGO:190383010.5NIPA1, NIPA2, NIPAL2, NIPAL4
12magnesium ion transportGO:001569310.5NIPA1, NIPA2, NIPAL2, NIPAL4
13sphingolipid metabolic processGO:000666510.2ALOX12B, ALOXE3
14lipid metabolic processGO:000662910.2ALOX12B, ALOX15B, ALOXE3, CERS3, LIPN, PNPLA1
15oxidation-reduction processGO:005511410.1ALOX12B, ALOX15B, ALOXE3, CYP4F22, SDR9C7

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

idNameGO IDScoreTop Affiliating Genes
1dioxygenase activityGO:005121310.7ALOX12B, ALOX15B, ALOXE3
2iron ion bindingGO:000550610.6ALOX12B, ALOX15B, ALOXE3, CYP4F22
3magnesium ion transmembrane transporter activityGO:001509510.5NIPA1, NIPA2, NIPAL2, NIPAL4
4oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygenGO:001670210.0ALOX12B, ALOX15B, ALOXE3
5oxidoreductase activityGO:001649110.0ALOX12B, ALOX15B, ALOXE3, CYP4F22, SDR9C7

Sources for Autosomal Recessive Congenital Ichthyosis

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet