ARCI13
MCID: ICH070
MIFTS: 20

Ichthyosis, Congenital, Autosomal Recessive 13 (ARCI13)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Rare diseases, Respiratory 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 57 73 29 6
Arci13 57 73
Autosomal Recessive Congenital Ichthyosis 13 12

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

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


HPO:

31
ichthyosis, congenital, autosomal recessive 13:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080257
OMIM® 57 617574
OMIM Phenotypic Series 57 PS242300
MeSH 44 D017490
SNOMED-CT via HPO 68 258211005 414941008 706885006

Summaries for Ichthyosis, Congenital, Autosomal Recessive 13

UniProtKB/Swiss-Prot : 73 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). Related phenotypes are palmoplantar hyperkeratosis and onychomycosis

Disease Ontology : 12 An autosomal recessive congenital ichthyosis that is characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has material basis in homozygous mutation in the SDR9C7 gene on chromosome 12q13.

More information from OMIM: 617574 PS242300

Symptoms & Phenotypes for Ichthyosis, Congenital, Autosomal Recessive 13

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

31
# Description HPO Frequency HPO Source Accession
1 palmoplantar hyperkeratosis 31 HP:0000972
2 onychomycosis 31 HP:0012203
3 hypergranulosis 31 HP:0025114

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Skin Nails Hair Skin:
palmoplantar hyperkeratosis
hyperlinearity of palms and soles
large erythematous scales
fine white scale on upper limbs and trunk (in some patients)
large polygonal brown scales and lower limbs (in some patients)
more
Skin Nails Hair Skin Histology:
marked hyperkeratosis
mild hypergranulosis

Skin Nails Hair Nails:
onychomycosis

Clinical features from OMIM®:

617574 (Updated 05-Mar-2021)

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 29 SDR9C7

Anatomical Context for Ichthyosis, Congenital, Autosomal Recessive 13

Publications for Ichthyosis, Congenital, Autosomal Recessive 13

Articles related to Ichthyosis, Congenital, Autosomal Recessive 13:

# Title Authors PMID Year
1
Whole-exome sequencing identified a novel frameshift mutation in SDR9C7 underlying autosomal recessive congenital ichthyosis in a Pakistani family. 6 57
28369735 2017
2
Mutations in SDR9C7 gene encoding an enzyme for vitamin A metabolism underlie autosomal recessive congenital ichthyosis. 6 57
28173123 2016

Variations for Ichthyosis, Congenital, Autosomal Recessive 13

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

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SDR9C7 NM_148897.3(SDR9C7):c.599T>C (p.Ile200Thr) SNV Pathogenic 430711 rs770729222 12:57323299-57323299 12:56929515-56929515
2 SDR9C7 NM_148897.3(SDR9C7):c.214C>T (p.Arg72Trp) SNV Pathogenic 430712 rs530109812 12:57327832-57327832 12:56934048-56934048
3 SDR9C7 NM_148897.3(SDR9C7):c.658C>T (p.Arg220Ter) SNV Pathogenic 488591 rs774363396 12:57323240-57323240 12:56929456-56929456
4 SDR9C7 NM_148897.3(SDR9C7):c.364dup (p.Thr122fs) Duplication Pathogenic 520397 rs760309815 12:57324205-57324206 12:56930421-56930422
5 SDR9C7 NM_148897.3(SDR9C7):c.551A>G (p.Asp184Gly) SNV Pathogenic 807680 rs138435128 12:57324019-57324019 12:56930235-56930235

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

73
# Symbol AA change Variation ID SNP ID
1 SDR9C7 p.Arg72Trp VAR_079292 rs530109812
2 SDR9C7 p.Ile200Thr VAR_079293 rs770729222

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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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