ARCI13
MCID: ICH070
MIFTS: 21

Ichthyosis, Congenital, Autosomal Recessive 13 (ARCI13)

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

Aliases & Classifications for Ichthyosis, Congenital, Autosomal Recessive 13

MalaCards integrated aliases for Ichthyosis, Congenital, Autosomal Recessive 13:

Name: Ichthyosis, Congenital, Autosomal Recessive 13 58 76 30 6
Arci13 58 76
Autosomal Recessive Congenital Ichthyosis 13 12

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
sparing of face and scalp in approximately two-thirds of patients
severity decreases with age (in some patients)


HPO:

33
ichthyosis, congenital, autosomal recessive 13:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080257
OMIM 58 617574
MeSH 45 D017490
SNOMED-CT via HPO 70 258211005 706885006

Summaries for Ichthyosis, Congenital, Autosomal Recessive 13

UniProtKB/Swiss-Prot : 76 Ichthyosis, congenital, autosomal recessive 13: 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.

MalaCards based summary : Ichthyosis, Congenital, Autosomal Recessive 13, is also known as arci13. An important gene associated with Ichthyosis, Congenital, Autosomal Recessive 13 is SDR9C7 (Short Chain Dehydrogenase/Reductase Family 9C Member 7). Affiliated tissues include skin and eye, and related phenotypes are palmoplantar hyperkeratosis and hypergranulosis

Description from OMIM: 617574

Symptoms & Phenotypes for Ichthyosis, Congenital, Autosomal Recessive 13

Human phenotypes related to Ichthyosis, Congenital, Autosomal Recessive 13:

33
# Description HPO Frequency HPO Source Accession
1 palmoplantar hyperkeratosis 33 HP:0000972
2 hypergranulosis 33 HP:0025114

Symptoms via clinical synopsis from OMIM:

58
Skin Nails Hair Nails:
onychomycosis

Skin Nails Hair Skin Histology:
marked hyperkeratosis
mild hypergranulosis

Skin Nails Hair Skin:
palmoplantar hyperkeratosis
large erythematous scales
fine white scale on upper limbs and trunk (in some patients)
large polygonal brown scales and lower limbs (in some patients)
hyperkeratosis of elbows and knees
more

Clinical features from OMIM:

617574

Drugs & Therapeutics for Ichthyosis, Congenital, Autosomal Recessive 13

Search Clinical Trials , NIH Clinical Center for Ichthyosis, Congenital, Autosomal Recessive 13

Genetic Tests for Ichthyosis, Congenital, Autosomal Recessive 13

Genetic tests related to Ichthyosis, Congenital, Autosomal Recessive 13:

# Genetic test Affiliating Genes
1 Ichthyosis, Congenital, Autosomal Recessive 13 30 SDR9C7

Anatomical Context for Ichthyosis, Congenital, Autosomal Recessive 13

MalaCards organs/tissues related to Ichthyosis, Congenital, Autosomal Recessive 13:

42
Skin, Eye

Publications for Ichthyosis, Congenital, Autosomal Recessive 13

Articles related to Ichthyosis, Congenital, Autosomal Recessive 13:

# Title Authors Year
1
Whole-exome sequencing identified a novel frameshift mutation in SDR9C7 underlying autosomal recessive congenital ichthyosis in a Pakistani family. ( 28369735 )
2017
2
Mutations in SDR9C7 gene encoding an enzyme for vitamin A metabolism underlie autosomal recessive congenital ichthyosis. ( 28173123 )
2016

Variations for Ichthyosis, Congenital, Autosomal Recessive 13

UniProtKB/Swiss-Prot genetic disease variations for Ichthyosis, Congenital, Autosomal Recessive 13:

76
# Symbol AA change Variation ID SNP ID
1 SDR9C7 p.Arg72Trp VAR_079292 rs530109812
2 SDR9C7 p.Ile200Thr VAR_079293 rs770729222

ClinVar genetic disease variations for Ichthyosis, Congenital, Autosomal Recessive 13:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SDR9C7 NM_148897.2(SDR9C7): c.599T> C (p.Ile200Thr) single nucleotide variant Pathogenic rs770729222 GRCh38 Chromosome 12, 56929515: 56929515
2 SDR9C7 NM_148897.2(SDR9C7): c.599T> C (p.Ile200Thr) single nucleotide variant Pathogenic rs770729222 GRCh37 Chromosome 12, 57323299: 57323299
3 SDR9C7 NM_148897.2(SDR9C7): c.214C> T (p.Arg72Trp) single nucleotide variant Pathogenic rs530109812 GRCh38 Chromosome 12, 56934048: 56934048
4 SDR9C7 NM_148897.2(SDR9C7): c.214C> T (p.Arg72Trp) single nucleotide variant Pathogenic rs530109812 GRCh37 Chromosome 12, 57327832: 57327832
5 SDR9C7 NM_148897.2(SDR9C7): c.658C> T (p.Arg220Ter) single nucleotide variant Pathogenic rs774363396 GRCh37 Chromosome 12, 57323240: 57323240
6 SDR9C7 NM_148897.2(SDR9C7): c.658C> T (p.Arg220Ter) single nucleotide variant Pathogenic rs774363396 GRCh38 Chromosome 12, 56929456: 56929456
7 SDR9C7 NM_148897.2(SDR9C7): c.364dup (p.Thr122Asnfs) duplication Pathogenic rs760309815 GRCh38 Chromosome 12, 56930422: 56930422
8 SDR9C7 NM_148897.2(SDR9C7): c.364dup (p.Thr122Asnfs) duplication Pathogenic rs760309815 GRCh37 Chromosome 12, 57324206: 57324206

Expression for Ichthyosis, Congenital, Autosomal Recessive 13

Search GEO for disease gene expression data for Ichthyosis, Congenital, Autosomal Recessive 13.

Pathways for Ichthyosis, Congenital, Autosomal Recessive 13

GO Terms for Ichthyosis, Congenital, Autosomal Recessive 13

Sources for Ichthyosis, Congenital, Autosomal Recessive 13

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
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45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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