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

Aliases & Descriptions for Autosomal Recessive Congenital Ichthyosis:

Name: Autosomal Recessive Congenital Ichthyosis 12 23 24 14
Non-Bullous Congenital Ichthyosiform Erythroderma 24 56
Congenital Lamellar Ichthyosis, Autosomal Recessive 24
Congenital Non-Bullous Ichthyosiform Erythroderma 56
Autosomal Recessive Lamellar Ichthyosis 24
Ichthyosiform Erythroderma, Congenital 69
Congenital Ichthyosiform Erythroderma 24
Erythrodermic Ichthyosis 56
Collodion Baby 24
Arci 12
Cie 56

Characteristics:

Orphanet epidemiological data:

56
congenital non-bullous ichthyosiform erythroderma
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal; Age of death: early childhood;

Classifications:

Orphanet: 56  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:0060655
Orphanet 56 ORPHA79394
UMLS via Orphanet 70 C0079154
ICD10 via Orphanet 34 Q80.2

Summaries for Autosomal Recessive Congenital Ichthyosis

Disease Ontology : 12 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 pruritus, failure to thrive and hearing impairment. An important gene associated with Autosomal Recessive Congenital Ichthyosis is TGM1 (Transglutaminase 1), and among its related pathways/superpathways are Arachidonic acid metabolism and Keratinization. The drugs Antibodies and Antibodies, Monoclonal have been mentioned in the context of this disorder. Affiliated tissues include skin, and related phenotypes are homeostasis/metabolism and integument

GeneReviews: NBK1420

Related Diseases for Autosomal Recessive Congenital Ichthyosis

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)
id Related Disease Score Top Affiliating Genes
1 ichthyosis, autosomal recessive 4b 33.0 ABCA12 TGM1
2 congenital ichthyosiform erythroderma 12.6
3 acral self-healing collodion baby 12.2
4 epidermolytic hyperkeratosis 12.1
5 tgm1-related autosomal recessive congenital ichthyosis 11.9
6 abca12-related autosomal recessive congenital ichthyosis 11.9
7 alox12b-related autosomal recessive congenital ichthyosis 11.9
8 aloxe3-related autosomal recessive congenital ichthyosis 11.9
9 cers-related autosomal recessive congenital ichthyosis 11.9
10 cyp4f22-related autosomal recessive congenital ichthyosis 11.9
11 lipn-related autosomal recessive congenital ichthyosis 11.9
12 pnpla1-related autosomal recessive congenital ichthyosis 11.9
13 st14-related autosomal recessive congenital ichthyosis 11.9
14 ichthyosis, congenital, autosomal recessive 1 11.8
15 ichthyosis, congenital, autosomal recessive 4a 11.8
16 ichthyosis, congenital, autosomal recessive 6 11.8
17 ichthyosis, congenital, autosomal recessive 11 11.8
18 ichthyosis, congenital, autosomal recessive 2 11.7
19 ichthyosis, congenital, autosomal recessive 3 11.7
20 ichthyosis, congenital, autosomal recessive 5 11.7
21 ichthyosis, congenital, autosomal recessive 10 11.7
22 ichthyosis, congenital, autosomal recessive 8 11.7
23 ichthyosis, congenital, autosomal recessive 7 11.7
24 ichthyosis, congenital, autosomal recessive 9 11.7
25 netherton syndrome 10.8
26 ichthyosis prematurity syndrome 10.8
27 ichthyosis 10.8
28 hallucinogen abuse 10.3 ABCA12 TGM1
29 velocardiofacial syndrome 10.3 ABCA12 TGM1
30 warsaw breakage syndrome 10.2 SDR9C7 ST14
31 communicating hydrocephalus 10.2 ABCA12 TGM1
32 insulinoma 10.2 ALOX12B ALOXE3 SPINK5 TGM1
33 amyotrophic lateral sclerosis 19 10.2 ABCA12 ALOX12B ALOXE3 NIPAL4 TGM1
34 solitary bone cyst 10.2 ABCA12 SPINK5 TGM1
35 cerebroretinal microangiopathy with calcifications and cysts 10.2 ALOX12B ALOXE3 NIPAL4 SPINK5 TGM1
36 trachea carcinoma in situ 10.1 ABCA12 ALOX12B
37 steroid inherited metabolic disorder 10.0 ABCA12 ALOX12B ALOXE3 CYP4F22 NIPAL4 PNPLA1
38 preauricular tag, isolated, autosomal dominant, 1 9.9 ABCA12 ALOX12B ALOXE3 CYP4F22 NIPAL4 SDR9C7
39 richter's syndrome 9.9 ABCA12 ALOX12B ALOXE3 CERS3 CYP4F22 LIPN
40 congenital hypothyroidism 9.9
41 hypothyroidism 9.9
42 dysferlinopathy 9.9
43 autosomal dominant nocturnal frontal lobe epilepsy 9.2 ABCA12 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

Human phenotypes related to Autosomal Recessive Congenital Ichthyosis:

56 32 (show all 13)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pruritus 56 32 Very frequent (99-80%) HP:0000989
2 failure to thrive 56 32 Frequent (79-30%) HP:0001508
3 hearing impairment 56 32 Frequent (79-30%) HP:0000365
4 short stature 56 32 Occasional (29-5%) HP:0004322
5 ichthyosis 56 32 Very frequent (99-80%) HP:0008064
6 abnormality of the nail 56 32 Frequent (79-30%) HP:0001597
7 palmoplantar keratoderma 56 32 Frequent (79-30%) HP:0000982
8 corneal erosion 56 32 Frequent (79-30%) HP:0200020
9 hypohidrosis 56 32 Very frequent (99-80%) HP:0000966
10 keratitis 56 32 Frequent (79-30%) HP:0000491
11 alopecia 56 32 Frequent (79-30%) HP:0001596
12 ectropion 56 32 Very frequent (99-80%) HP:0000656
13 erythroderma 56 32 Very frequent (99-80%) HP:0001019

MGI Mouse Phenotypes related to Autosomal Recessive Congenital Ichthyosis:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.73 ABCA12 ALOX12B ALOXE3 CASP14 CERS3 LAMC1
2 integument MP:0010771 9.28 ABCA12 ALOX12B ALOXE3 CASP14 CERS3 SLC27A4

Drugs & Therapeutics for Autosomal Recessive Congenital Ichthyosis

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


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Antibodies Phase 2
2 Antibodies, Monoclonal Phase 2
3 Immunoglobulins Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase
1 Treatment of the Recessive Nonbullous Congenital Ichthyosis by the Epigallocatechine Cutaneous Unknown status NCT01222000 Phase 3
2 The Efficacy and Safety of Secukinumab in Patients With Ichthyoses Recruiting NCT03041038 Phase 2

Search NIH Clinical Center for Autosomal Recessive Congenital Ichthyosis

Genetic Tests for Autosomal Recessive Congenital Ichthyosis

Genetic tests related to Autosomal Recessive Congenital Ichthyosis:

id Genetic test Affiliating Genes
1 Autosomal Recessive Congenital Ichthyosis 24 TGM1

Anatomical Context for Autosomal Recessive Congenital Ichthyosis

MalaCards organs/tissues related to Autosomal Recessive Congenital Ichthyosis:

39
Skin

Publications for Autosomal Recessive Congenital Ichthyosis

Articles related to Autosomal Recessive Congenital Ichthyosis:

(show top 50) (show all 64)
id Title Authors Year
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

ClinVar genetic disease variations for Autosomal Recessive Congenital Ichthyosis:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 NIPAL4 NM_001099287.1(NIPAL4): c.527C> A (p.Ala176Asp) single nucleotide variant Pathogenic rs199422217 GRCh37 Chromosome 5, 156895736: 156895736
2 TGM1 NM_000359.2(TGM1): c.1223_1227delACACA (p.Asp408Valfs) deletion Pathogenic/Likely pathogenic rs398122905 GRCh37 Chromosome 14, 24727812: 24727816
3 ALOX12B NM_001139.2(ALOX12B): c.1562A> G (p.Tyr521Cys) single nucleotide variant Pathogenic rs199766569 GRCh37 Chromosome 17, 7979005: 7979005

Expression for Autosomal Recessive Congenital Ichthyosis

Search GEO for disease gene expression data for Autosomal Recessive Congenital Ichthyosis.

Pathways for Autosomal Recessive Congenital Ichthyosis

GO Terms for Autosomal Recessive Congenital Ichthyosis

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

id Name GO ID Score Top Affiliating Genes
1 epidermal lamellar body GO:0097209 8.62 ABCA12 SPINK5

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

(show all 15)
id Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.93 ALOX12B ALOX15B ALOXE3 CYP4F22 SDR9C7
2 cornification GO:0070268 9.8 CASP14 SPINK5 ST14 TGM1
3 lipid metabolic process GO:0006629 9.8 ALOX12B ALOX15B ALOXE3 CERS3 LIPN PNPLA1
4 keratinocyte differentiation GO:0030216 9.71 ABCA12 CERS3 ST14 TGM1
5 fatty acid metabolic process GO:0006631 9.7 ALOX12B ALOXE3 SLC27A4
6 ceramide biosynthetic process GO:0046513 9.65 ALOX12B ALOXE3 CERS3
7 arachidonic acid metabolic process GO:0019369 9.63 ALOX12B ALOX15B ALOXE3
8 establishment of skin barrier GO:0061436 9.61 ABCA12 ALOX12B ALOXE3
9 sphingolipid metabolic process GO:0006665 9.55 ALOX12B ALOXE3
10 linoleic acid metabolic process GO:0043651 9.54 ALOX12B ALOX15B ALOXE3
11 lipid homeostasis GO:0055088 9.51 ABCA12 PNPLA1
12 lipoxygenase pathway GO:0019372 9.5 ALOX12B ALOX15B ALOXE3
13 hepoxilin biosynthetic process GO:0051122 9.33 ALOX12B ALOX15B ALOXE3
14 magnesium ion transmembrane transport GO:1903830 9.26 NIPA1 NIPA2 NIPAL2 NIPAL4
15 magnesium ion transport GO:0015693 8.92 NIPA1 NIPA2 NIPAL2 NIPAL4

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

id Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.72 ALOX12B ALOX15B ALOXE3 CYP4F22 SDR9C7
2 iron ion binding GO:0005506 9.46 ALOX12B ALOX15B ALOXE3 CYP4F22
3 dioxygenase activity GO:0051213 9.43 ALOX12B ALOX15B ALOXE3
4 oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen GO:0016702 9.13 ALOX12B ALOX15B ALOXE3
5 magnesium ion transmembrane transporter activity GO:0015095 8.92 NIPA1 NIPA2 NIPAL2 NIPAL4

Sources for Autosomal Recessive Congenital Ichthyosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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