ARCI9
MCID: ICH048
MIFTS: 31

Ichthyosis, Congenital, Autosomal Recessive 9 (ARCI9)

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

Aliases & Classifications for Ichthyosis, Congenital, Autosomal Recessive 9

MalaCards integrated aliases for Ichthyosis, Congenital, Autosomal Recessive 9:

Name: Ichthyosis, Congenital, Autosomal Recessive 9 57 72 13 70
Autosomal Recessive Congenital Ichthyosis 9 12 29 6 15
Arci9 57 12 72
Ichthyosis, Congenital, Autosomal Recessive, Type 9 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive


HPO:

31
ichthyosis, congenital, autosomal recessive 9:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060718
OMIM® 57 615023
OMIM Phenotypic Series 57 PS242300
MeSH 44 D017490
ICD10 32 Q80.2
SNOMED-CT via HPO 68 254156001 258211005 268282005
UMLS 70 C3554349

Summaries for Ichthyosis, Congenital, Autosomal Recessive 9

OMIM® : 57 Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. The main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur (summary by Fischer, 2009). Neither histopathologic findings nor ultrastructural features clearly distinguish between NCIE and LI. In addition, mutations in several genes have been shown to cause both lamellar and nonbullous ichthyosiform erythrodermal phenotypes (Akiyama et al., 2003). At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass LI, NCIE, and harlequin ichthyosis (ARCI4B; 242500) (Oji et al., 2010). NCIE is characterized by prominent erythroderma and fine white, superficial, semiadherent scales. Most patients present with collodion membrane at birth and have palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. In half of the cases, a nail dystrophy including ridging, subungual hyperkeratosis, or hypoplasia has been described. Ectropion, eclabium, scalp involvement, and loss of eyebrows and lashes seem to be more frequent in NCIE than in lamellar ichthyosis (summary by Fischer et al., 2000). In LI, the scales are large, adherent, dark, and pigmented with no skin erythema. Overlapping phenotypes may depend on the age of the patient and the region of the body. The terminal differentiation of the epidermis is perturbed in both forms, leading to a reduced barrier function and defects of lipid composition in the stratum corneum (summary by Lefevre et al., 2006). In later life, the skin in ARCI may have scales that cover the entire body surface, including the flexural folds, and the scales are highly variable in size and color. Erythema may be very mild and almost invisible. Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by Eckl et al., 2005). For a general phenotypic description and discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 (242300). (615023) (Updated 20-May-2021)

MalaCards based summary : Ichthyosis, Congenital, Autosomal Recessive 9, also known as autosomal recessive congenital ichthyosis 9, is related to weill-marchesani syndrome 4 and autosomal recessive congenital ichthyosis. An important gene associated with Ichthyosis, Congenital, Autosomal Recessive 9 is CERS3 (Ceramide Synthase 3). Affiliated tissues include skin and eye, and related phenotypes are congenital ichthyosiform erythroderma and epidermal acanthosis

Disease Ontology : 12 An autosomal recessive congenital ichthyosis characterized by fine erythrodermic scales, palmoplantar hyperlinearity, thick orthohyperkeratosis, hypergranulosis, moderate acanthosis and mild alopecia that has material basis in homozygous mutation in the CERS3 gene on chromosome 15q26.

UniProtKB/Swiss-Prot : 72 Ichthyosis, congenital, autosomal recessive 9: A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs.

Related Diseases for Ichthyosis, Congenital, Autosomal Recessive 9

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 Inherited Ichthyosis
Autosomal Ichthyosis Syndrome

Diseases related to Ichthyosis, Congenital, Autosomal Recessive 9 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 weill-marchesani syndrome 4 10.2 CERS3 ADAMTS17
2 autosomal recessive congenital ichthyosis 9.9 LYSMD4 CERS3-AS1 CERS3 ADAMTS17
3 t-cell immunodeficiency with thymic aplasia 9.7 TBX1 HIRA
4 schwannoma of twelfth cranial nerve 9.6 TBX1 SMARCB1
5 chromosomal deletion syndrome 9.6 TBX1 HIRA COMT
6 hypoglossal nerve disease 9.6 TBX1 SMARCB1
7 chromosome 22q11.2 duplication syndrome 9.5 TBX1 HIRA CLTCL1 CDC45
8 chromosomal disease 9.5 TBX1 HIRA COMT
9 digeorge syndrome 9.0 TBX1 RANBP1 HIRA COMT CLTCL1 CDC45
10 velocardiofacial syndrome 8.7 TXNRD2 TBX1 RANBP1 HIRA COMT CLTCL1

Graphical network of the top 20 diseases related to Ichthyosis, Congenital, Autosomal Recessive 9:



Diseases related to Ichthyosis, Congenital, Autosomal Recessive 9

Symptoms & Phenotypes for Ichthyosis, Congenital, Autosomal Recessive 9

Human phenotypes related to Ichthyosis, Congenital, Autosomal Recessive 9:

31
# Description HPO Frequency HPO Source Accession
1 congenital ichthyosiform erythroderma 31 HP:0007431
2 epidermal acanthosis 31 HP:0025092
3 hypergranulosis 31 HP:0025114

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skin Nails Hair Skin Histology:
hypergranulosis
acanthosis, moderate
orthohyperkeratosis, thick
perivascular lymphocytic infiltrates, mild

Skin Nails Hair Hair:
mild alopecia

Skin Nails Hair Skin:
collodion membrane at birth
fine erythrodermic scales, generalized
palmoplantar hyperlinearity
large brownish scales on lower extremities (in some patients)

Clinical features from OMIM®:

615023 (Updated 20-May-2021)

GenomeRNAi Phenotypes related to Ichthyosis, Congenital, Autosomal Recessive 9 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased proliferation GR00094-A 8.62 HIRA SMARCB1

Drugs & Therapeutics for Ichthyosis, Congenital, Autosomal Recessive 9

Search Clinical Trials , NIH Clinical Center for Ichthyosis, Congenital, Autosomal Recessive 9

Genetic Tests for Ichthyosis, Congenital, Autosomal Recessive 9

Genetic tests related to Ichthyosis, Congenital, Autosomal Recessive 9:

# Genetic test Affiliating Genes
1 Autosomal Recessive Congenital Ichthyosis 9 29 CERS3

Anatomical Context for Ichthyosis, Congenital, Autosomal Recessive 9

MalaCards organs/tissues related to Ichthyosis, Congenital, Autosomal Recessive 9:

40
Skin, Eye

Publications for Ichthyosis, Congenital, Autosomal Recessive 9

Articles related to Ichthyosis, Congenital, Autosomal Recessive 9:

# Title Authors PMID Year
1
Impaired epidermal ceramide synthesis causes autosomal recessive congenital ichthyosis and reveals the importance of ceramide acyl chain length. 6 57
23549421 2013
2
Mutations in CERS3 cause autosomal recessive congenital ichthyosis in humans. 6 57
23754960 2013
3
Autosomal recessive congenital ichthyosis maps to chromosome 15q26.3 in an isolated aboriginal population from southern Taiwan. 57
21093221 2011
4
Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009. 57
20643494 2010
5
Autosomal recessive congenital ichthyosis. 57
19434086 2009
6
Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3. 57
16436457 2006
7
Mutation spectrum and functional analysis of epidermis-type lipoxygenases in patients with autosomal recessive congenital ichthyosis. 57
16116617 2005
8
The clinical spectrum of nonbullous congenital ichthyosiform erythroderma and lamellar ichthyosis. 57
12780701 2003
9
Two new loci for autosomal recessive ichthyosis on chromosomes 3p21 and 19p12-q12 and evidence for further genetic heterogeneity. 57
10712205 2000

Variations for Ichthyosis, Congenital, Autosomal Recessive 9

ClinVar genetic disease variations for Ichthyosis, Congenital, Autosomal Recessive 9:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CERS3 NM_001290343.2(CERS3):c.609+1G>T SNV Pathogenic 55838 rs587776996 GRCh37: 15:101016290-101016290
GRCh38: 15:100476085-100476085
2 CERS3 NM_001290343.2(CERS3):c.43T>C (p.Trp15Arg) SNV Pathogenic 64621 rs762679102 GRCh37: 15:101042012-101042012
GRCh38: 15:100501807-100501807
3 CERS3 NM_001290343.2(CERS3):c.731G>A (p.Trp244Ter) SNV Pathogenic 633803 rs1567644030 GRCh37: 15:101013136-101013136
GRCh38: 15:100472931-100472931
4 CERS3-AS1 , CERS3 NM_001378789.1(CERS3):c.1006C>T (p.Gln336Ter) SNV Pathogenic 1032560 GRCh37: 15:100943064-100943064
GRCh38: 15:100402859-100402859
5 CERS3 NM_001290343.2(CERS3):c.46del (p.Leu16fs) Deletion Likely pathogenic 804475 rs1596772428 GRCh37: 15:101042009-101042009
GRCh38: 15:100501804-100501804
6 CERS3 NM_001290343.2(CERS3):c.530C>T (p.Ser177Phe) SNV Uncertain significance 800985 rs1178676096 GRCh37: 15:101016370-101016370
GRCh38: 15:100476165-100476165

Expression for Ichthyosis, Congenital, Autosomal Recessive 9

Search GEO for disease gene expression data for Ichthyosis, Congenital, Autosomal Recessive 9.

Pathways for Ichthyosis, Congenital, Autosomal Recessive 9

GO Terms for Ichthyosis, Congenital, Autosomal Recessive 9

Biological processes related to Ichthyosis, Congenital, Autosomal Recessive 9 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of glucose import GO:0046326 8.62 MEF2A CLTCL1

Sources for Ichthyosis, Congenital, Autosomal Recessive 9

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
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28 GO
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30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
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44 MeSH
45 MESH via Orphanet
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49 NCI
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56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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