MCID: ATS013
MIFTS: 34

Autosomal Recessive Congenital Ichthyosis

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

Aliases & Classifications for Autosomal Recessive Congenital Ichthyosis

MalaCards integrated aliases for Autosomal Recessive Congenital Ichthyosis:

Name: Autosomal Recessive Congenital Ichthyosis 12 24 37 15
Arci 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0060655
KEGG 37 H00734

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 arci, is related to ichthyosis, congenital, autosomal recessive 4a and ichthyosis, congenital, autosomal recessive 2. An important gene associated with Autosomal Recessive Congenital Ichthyosis is NIPAL4 (NIPA Like Domain Containing 4), and among its related pathways/superpathways is Prostaglandin 2 biosynthesis and metabolism FM. 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 2 Ichthyosis, Congenital, Autosomal Recessive 1
Ichthyosis, Congenital, Autosomal Recessive 4b Ichthyosis, Congenital, Autosomal Recessive 4a
Ichthyosis, Congenital, Autosomal Recessive 11 Ichthyosis, Congenital, Autosomal Recessive 5
Ichthyosis, Congenital, Autosomal Recessive 3 Ichthyosis, Congenital, Autosomal Recessive 6
Ichthyosis, Congenital, Autosomal Recessive 8 Ichthyosis, Congenital, Autosomal Recessive 7
Ichthyosis, Congenital, Autosomal Recessive 9 Ichthyosis, Congenital, Autosomal Recessive 10
Ichthyosis, Congenital, Autosomal Recessive 12 Ichthyosis, Congenital, Autosomal Recessive 14
Ichthyosis, Congenital, Autosomal Recessive 13 Autosomal Recessive Congenital Ichthyosis
Ichthyosis, Acquired

Diseases related to Autosomal Recessive Congenital Ichthyosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 31)
# Related Disease Score Top Affiliating Genes
1 ichthyosis, congenital, autosomal recessive 4a 33.5 ABCA12 TGM1
2 ichthyosis, congenital, autosomal recessive 2 32.7 ALOX12B ALOXE3 SULT2B1 TGM1
3 ichthyosis, congenital, autosomal recessive 7 32.4 SDR9C7 ST14
4 ichthyosis, congenital, autosomal recessive 4b 31.6 ABCA12 ALOX12B ALOXE3 CYP4F22 NIPAL4 TGM1
5 self-improving collodion baby 30.2 ALOX12B ALOXE3 TGM1
6 ichthyosis, congenital, autosomal recessive 1 29.4 ABCA12 ALOX12B ALOXE3 CYP4F22 NIPAL4 SDR9C7
7 ichthyosis 23.9 ABCA12 ALOX12B ALOXE3 CERS3 CYP4F22 LIPN
8 ichthyosis, congenital, autosomal recessive 3 12.0
9 ichthyosis, congenital, autosomal recessive 5 11.9
10 ichthyosis, congenital, autosomal recessive 6 11.9
11 ichthyosis, congenital, autosomal recessive 8 11.9
12 ichthyosis, congenital, autosomal recessive 9 11.9
13 ichthyosis, congenital, autosomal recessive 10 11.9
14 ichthyosis, congenital, autosomal recessive 11 11.8
15 ichthyosis, congenital, autosomal recessive 14 11.6
16 ichthyosis, congenital, autosomal recessive 13 11.6
17 ichthyosis, congenital, autosomal recessive 12 11.2
18 netherton syndrome 10.9
19 ichthyosis prematurity syndrome 10.9
20 ichthyosis lamellar 1 10.9
21 ectropion 10.4 ABCA12 TGM1
22 eyelid disease 10.3 ABCA12 TGM1
23 ichthyosis vulgaris 10.2 ABCA12 TGM1
24 leber congenital amaurosis 9.9
25 congenital hypothyroidism 9.9
26 hypothyroidism 9.9
27 type i 9.9
28 dysferlinopathy 9.9
29 neonatal hypothyroidism 9.9
30 skin disease 9.7 ABCA12 ALOX12B TGM1
31 congenital ichthyosiform erythroderma 6.0 ABCA12 ALOX12B ALOXE3 CERS3 CYP4F22 LIPN

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

MGI Mouse Phenotypes related to Autosomal Recessive Congenital Ichthyosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.65 ABCA12 ALOX12B ALOXE3 CERS3 LIPN PNPLA1
2 integument MP:0010771 9.23 ABCA12 ALOX12B ALOXE3 CERS3 PNPLA1 SLC27A4

Drugs & Therapeutics for Autosomal Recessive Congenital Ichthyosis

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


# 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:


# Name Status NCT ID Phase Drugs
1 The Efficacy and Safety of Secukinumab in Patients With Ichthyoses Recruiting NCT03041038 Phase 2 Secukinumab;Placebo

Search NIH Clinical Center for Autosomal Recessive Congenital Ichthyosis

Genetic Tests for Autosomal Recessive Congenital Ichthyosis

Anatomical Context for Autosomal Recessive Congenital Ichthyosis

MalaCards organs/tissues related to Autosomal Recessive Congenital Ichthyosis:

41
Skin

Publications for Autosomal Recessive Congenital Ichthyosis

Articles related to Autosomal Recessive Congenital Ichthyosis:

(show top 50) (show all 80)
# Title Authors Year
1
Topical polyhydroxy acid treatment for autosomal recessive congenital ichthyosis in the golden retriever: a prospective pilot study. ( 29786154 )
2018
2
A Chinese family with autosomal recessive congenital ichthyosis and Leber congenital amaurosis due to mutations in PNPLA1 and LCA5. ( 29400301 )
2018
3
ABCA12 mutations in patients with autosomal recessive congenital ichthyosis: evidence of a founder effect in the Spanish population and phenotype-genotype implications. ( 29887490 )
2018
4
Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation. ( 28403545 )
2017
5
A Defect in NIPAL4 Is Associated with Autosomal Recessive Congenital Ichthyosis in American Bulldogs. ( 28122049 )
2017
6
Identification of Mutations in SDR9C7 in 6 Families with Autosomal Recessive Congenital Ichthyosis. ( 28906551 )
2017
7
PNPLA1 defects in patients with autosomal recessive congenital ichthyosis and KO mice sustain PNPLA1 irreplaceable function in epidermal omega-O-acylceramide synthesis and skin permeability barrier. ( 28369476 )
2017
8
Novel PNPLA1 mutations in two Italian siblings with autosomal recessive congenital ichthyosis. ( 28983987 )
2017
9
Identification of two novel PNPLA1 mutations in Turkish families with autosomal recessive congenital ichthyosis. ( 29624231 )
2017
10
Autosomal recessive congenital ichthyosis: CERS3 mutations identified by a next generation sequencing panel targeting ichthyosis genes. ( 28875980 )
2017
11
Calpain 12 Function Revealed through the Study of an Atypical Case of Autosomal Recessive Congenital Ichthyosis. ( 27769845 )
2017
12
Whole Exome Sequencing Identified a Novel Frameshift Mutation in SDR9C7 underlying Autosomal Recessive Congenital Ichthyosis in a Pakistani Family. ( 28369735 )
2017
13
Expanding mutation landscape and phenotypic spectrum of autosomal recessive congenital ichthyosis. ( 28833017 )
2017
14
Sixteen novel mutations in PNPLA1 in patients with autosomal recessive congenital ichthyosis reveal the importance of an extended patatin domain in PNPLA1 that is essential for proper human skin barrier function. ( 28093717 )
2017
15
Two missense mutations in CYP4F22 in autosomal recessive congenital ichthyosis. ( 27735052 )
2017
16
Mutations in SULT2B1 Cause Autosomal-Recessive Congenital Ichthyosis in Humans. ( 28575648 )
2017
17
Novel mutations in TGM1 and ABCA12 cause autosomal recessive congenital ichthyosis in five Saudi families. ( 27061915 )
2016
18
Whole exome analysis reveals a novel missense PNPLA1 variant that causes autosomal recessive congenital ichthyosis in a Pakistani family. ( 26778108 )
2016
19
Mutations in SDR9C7 gene encoding an enzyme for vitamin A metabolism underlie autosomal recessive congenital ichthyosis. ( 27538420 )
2016
20
Two Cases of Autosomal Recessive Congenital Ichthyosis due to CYP4F22 Mutations: Expanding the Genotype of Self-Healing Collodion Baby. ( 26646773 )
2016
21
Mutations in SDR9C7 gene encoding an enzyme for vitamin A metabolism underlie autosomal recessive congenital ichthyosis. ( 28173123 )
2016
22
Morphological alterations in two siblings with autosomal recessive congenital ichthyosis associated with CYP4F22 mutations. ( 27449533 )
2016
23
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
24
Spectrum of Autosomal Recessive Congenital Ichthyosis in Scandinavia: Clinical Characteristics and Novel and Recurrent Mutations in 132 Patients. ( 27025581 )
2016
25
Isotretinoin treatment of autosomal recessive congenital ichthyosis complicated by coexisting dysferlinopathy. ( 26620441 )
2016
26
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
27
Autosomal recessive congenital ichthyosis due to PNPLA1 mutation in a golden retriever-poodle cross-bred dog and the effect of topical therapy. ( 27237723 )
2016
28
Functional study of TGM1 missense mutations in autosomal recessive congenital ichthyosis. ( 26990434 )
2016
29
Novel mutations in the genes TGM1 and ALOXE3 underlying autosomal recessive congenital ichthyosis. ( 26578203 )
2015
30
Update on autosomal recessive congenital ichthyosis: mRNA analysis using hair samples is a powerful tool for genetic diagnosis. ( 25982146 )
2015
31
A novel deletion mutation in the ALOX12B gene in a Kurdish family with autosomal recessive congenital ichthyosis. ( 26575587 )
2015
32
Identification and functional characterization of a novel transglutaminase 1 gene mutation associated with autosomal recessive congenital ichthyosis. ( 26220141 )
2015
33
Mutation study for 9 genes in 23 unrelated patients with autosomal recessive congenital ichthyosis in Japan and Malaysia. ( 25766764 )
2015
34
Novel mutation in NIPAL4 in a Romanian family with autosomal recessive congenital ichthyosis. ( 26456858 )
2015
35
Otologic Manifestations of Autosomal Recessive Congenital Ichthyosis in Children. ( 26206273 )
2015
36
A novel TGM1 mutation, leading to multiple splicing rearrangements, is associated with autosomal recessive congenital ichthyosis. ( 25754682 )
2015
37
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
38
Oral manifestation of autosomal recessive congenital ichthyosis in a 2-year-old patient. ( 24995134 )
2014
39
Anti-laminin-I^1 Pemphigoid Developed in a Case of Autosomal Recessive Congenital Ichthyosis. ( 24733442 )
2014
40
A mouse organotypic tissue culture model for autosomal recessive congenital ichthyosis. ( 25078898 )
2014
41
Autosomal Recessive Congenital Ichthyosis in American Bulldogs Is Associated With NIPAL4 (ICHTHYIN) Deficiency. ( 25322746 )
2014
42
A novel mutation in the transglutaminase-1 gene in an autosomal recessive congenital ichthyosis patient. ( 25180191 )
2014
43
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
44
Interactions between FATP4 and ichthyin in epidermal lipid processing may provide clues to the pathogenesis of autosomal recessive congenital ichthyosis. ( 23290633 )
2013
45
Non-syndromic autosomal recessive congenital ichthyosis in the Israeli population. ( 23621129 )
2013
46
The sound of silence: autosomal recessive congenital ichthyosis caused by a synonymous mutation in ABCA12. ( 23528209 )
2013
47
Identification of a novel PNPLA1 mutation in a Spanish family with autosomal recessive congenital ichthyosis. ( 24344921 )
2013
48
Different TGM1 mutation spectra in Italian and Portuguese patients with autosomal recessive congenital ichthyosis: evidence of founder effects in Portugal. ( 23278109 )
2013
49
Impaired epidermal ceramide synthesis causes autosomal recessive congenital ichthyosis and reveals the importance of ceramide acyl chain length. ( 23549421 )
2013
50
Identifying a Hyperkeratosis Signature in Autosomal Recessive Congenital Ichthyosis: Mdm2 Inhibition Prevents Hyperkeratosis in a Rat ARCI Model. ( 24005053 )
2013

Variations for Autosomal Recessive Congenital Ichthyosis

Expression for Autosomal Recessive Congenital Ichthyosis

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

Pathways for Autosomal Recessive Congenital Ichthyosis

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

# Super pathways Score Top Affiliating Genes
1 9.98 ALOX12B ALOXE3

GO Terms for Autosomal Recessive Congenital Ichthyosis

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 fatty acid metabolic process GO:0006631 9.65 ALOX12B ALOXE3 SLC27A4
2 cornification GO:0070268 9.54 LIPN ST14 TGM1
3 lipid homeostasis GO:0055088 9.51 ABCA12 PNPLA1
4 sphingolipid metabolic process GO:0006665 9.49 ALOX12B ALOXE3
5 arachidonic acid metabolic process GO:0019369 9.46 ALOX12B ALOXE3
6 linoleic acid metabolic process GO:0043651 9.43 ALOX12B ALOXE3
7 ceramide biosynthetic process GO:0046513 9.43 ALOX12B ALOXE3 CERS3
8 lipoxygenase pathway GO:0019372 9.4 ALOX12B ALOXE3
9 establishment of skin barrier GO:0061436 9.33 ABCA12 ALOX12B ALOXE3
10 hepoxilin biosynthetic process GO:0051122 9.32 ALOX12B ALOXE3
11 keratinocyte differentiation GO:0030216 9.26 ABCA12 CERS3 ST14 TGM1
12 lipid metabolic process GO:0006629 9.17 ALOX12B ALOXE3 CERS3 LIPN PNPLA1 SLC27A4

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

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.46 ALOX12B ALOXE3 CYP4F22 SDR9C7
2 iron ion binding GO:0005506 9.13 ALOX12B ALOXE3 CYP4F22
3 oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen GO:0016702 8.62 ALOX12B ALOXE3

Sources for Autosomal Recessive Congenital Ichthyosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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