MCID: ICH072
MIFTS: 18

Ichthyosis, Congenital, Autosomal Recessive 14

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

Aliases & Classifications for Ichthyosis, Congenital, Autosomal Recessive 14

MalaCards integrated aliases for Ichthyosis, Congenital, Autosomal Recessive 14:

Name: Ichthyosis, Congenital, Autosomal Recessive 14 57 75 29 6
Arci14 57 75
Autosomal Recessive Congenital Ichthyosis 14 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
relative sparing of axillae, popliteal fossae, back, and part of the soles
collodion membrane at birth (in some patients)
gradual improvement in pruritus and scaling with age


Classifications:



External Ids:

OMIM 57 617571
Disease Ontology 12 DOID:0080258
MeSH 44 D017490

Summaries for Ichthyosis, Congenital, Autosomal Recessive 14

UniProtKB/Swiss-Prot : 75 Ichthyosis, congenital, autosomal recessive 14: 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 14, is also known as arci14. An important gene associated with Ichthyosis, Congenital, Autosomal Recessive 14 is SULT2B1 (Sulfotransferase Family 2B Member 1). Affiliated tissues include skin.

Description from OMIM: 617571

Symptoms & Phenotypes for Ichthyosis, Congenital, Autosomal Recessive 14

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Skin:
generalized desquamation
dry scaly skin
large dark scales (thicker in areas of mechanical stress)
hyperkeratosis
erythema
more
Skin Nails Hair Skin Electron Microscopy:
variable electron densities of horny material
small vesicular inclusions in horny layer

Skin Nails Hair Skin Histology:
hyperkeratosis
massive orthokeratotic cornified layer
prominent granular layer
blood vessels in epidermal layers
perivascular lymphocytic infiltrations
more

Clinical features from OMIM:

617571

Drugs & Therapeutics for Ichthyosis, Congenital, Autosomal Recessive 14

Search Clinical Trials , NIH Clinical Center for Ichthyosis, Congenital, Autosomal Recessive 14

Genetic Tests for Ichthyosis, Congenital, Autosomal Recessive 14

Genetic tests related to Ichthyosis, Congenital, Autosomal Recessive 14:

# Genetic test Affiliating Genes
1 Ichthyosis, Congenital, Autosomal Recessive 14 29

Anatomical Context for Ichthyosis, Congenital, Autosomal Recessive 14

MalaCards organs/tissues related to Ichthyosis, Congenital, Autosomal Recessive 14:

41
Skin

Publications for Ichthyosis, Congenital, Autosomal Recessive 14

Variations for Ichthyosis, Congenital, Autosomal Recessive 14

ClinVar genetic disease variations for Ichthyosis, Congenital, Autosomal Recessive 14:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SULT2B1 NM_177973.1(SULT2B1): c.71+2T> A single nucleotide variant Pathogenic rs1114167426 GRCh37 Chromosome 19, 49055582: 49055582
2 SULT2B1 NM_177973.1(SULT2B1): c.71+2T> A single nucleotide variant Pathogenic rs1114167426 GRCh38 Chromosome 19, 48552325: 48552325
3 SULT2B1 NM_177973.1(SULT2B1): c.364dup (p.Met122Asnfs) duplication Pathogenic rs1114167425 GRCh37 Chromosome 19, 49090635: 49090635
4 SULT2B1 NM_177973.1(SULT2B1): c.364dup (p.Met122Asnfs) duplication Pathogenic rs1114167425 GRCh38 Chromosome 19, 48587378: 48587378
5 SULT2B1 NM_177973.1(SULT2B1): c.446C> T (p.Pro149Leu) single nucleotide variant Pathogenic rs1114167424 GRCh38 Chromosome 19, 48591631: 48591631
6 SULT2B1 NM_177973.1(SULT2B1): c.446C> T (p.Pro149Leu) single nucleotide variant Pathogenic rs1114167424 GRCh37 Chromosome 19, 49094888: 49094888
7 SULT2B1 NM_177973.1(SULT2B1): c.821G> A (p.Arg274Gln) single nucleotide variant Pathogenic rs762765702 GRCh37 Chromosome 19, 49100171: 49100171
8 SULT2B1 NM_177973.1(SULT2B1): c.821G> A (p.Arg274Gln) single nucleotide variant Pathogenic rs762765702 GRCh38 Chromosome 19, 48596914: 48596914

Expression for Ichthyosis, Congenital, Autosomal Recessive 14

Search GEO for disease gene expression data for Ichthyosis, Congenital, Autosomal Recessive 14.

Pathways for Ichthyosis, Congenital, Autosomal Recessive 14

GO Terms for Ichthyosis, Congenital, Autosomal Recessive 14

Sources for Ichthyosis, Congenital, Autosomal Recessive 14

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10 dbSNP
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17 ExPASy
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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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