MCID: ICH070
MIFTS: 16

Ichthyosis, Congenital, Autosomal Recessive 13

Categories: Genetic diseases, Skin diseases, Rare diseases, Fetal 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 75 6
Arci13 57 75
Autosomal Recessive Congenital Ichthyosis 13 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


Classifications:



External Ids:

OMIM 57 617574
Disease Ontology 12 DOID:0080257
MeSH 44 D017490

Summaries for Ichthyosis, Congenital, Autosomal Recessive 13

UniProtKB/Swiss-Prot : 75 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.

Description from OMIM: 617574

Symptoms & Phenotypes for Ichthyosis, Congenital, Autosomal Recessive 13

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Skin:
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
palmoplantar hyperkeratosis
more
Skin Nails Hair Nails:
onychomycosis

Skin Nails Hair Skin Histology:
mild hypergranulosis
marked hyperkeratosis


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

Anatomical Context for Ichthyosis, Congenital, Autosomal Recessive 13

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

41
Skin

Publications for Ichthyosis, Congenital, Autosomal Recessive 13

Variations for Ichthyosis, Congenital, Autosomal Recessive 13

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

75
# 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 GRCh37 Chromosome 12, 57324206: 57324206
8 SDR9C7 NM_148897.2(SDR9C7): c.364dup (p.Thr122Asnfs) duplication Pathogenic GRCh38 Chromosome 12, 56930422: 56930422

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

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74 UMLS via Orphanet
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