ARCI14
MCID: ICH072
MIFTS: 22

Ichthyosis, Congenital, Autosomal Recessive 14 (ARCI14)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Rare diseases, Respiratory diseases, Skin 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 72 29 6
Arci14 57 72
Autosomal Recessive Congenital Ichthyosis 14 12

Characteristics:

OMIM®:

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

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


HPO:

31
ichthyosis, congenital, autosomal recessive 14:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Ichthyosis, Congenital, Autosomal Recessive 14

UniProtKB/Swiss-Prot : 72 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 eye, and related phenotypes are hyperkeratosis and erythema

Disease Ontology : 12 An autosomal recessive congenital ichthyosis that is characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has material basis in homozygous or compound heterozygous mutation in the SULT2B1 gene on chromosome 19q13.

More information from OMIM: 617571 PS242300

Symptoms & Phenotypes for Ichthyosis, Congenital, Autosomal Recessive 14

Human phenotypes related to Ichthyosis, Congenital, Autosomal Recessive 14:

31 (showing 5, show less)
# Description HPO Frequency HPO Source Accession
1 hyperkeratosis 31 HP:0000962
2 erythema 31 HP:0010783
3 pruritus 31 HP:0000989
4 scaling skin 31 HP:0040189
5 orthokeratotic hyperkeratosis 31 HP:0025080

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skin Nails Hair Skin:
hyperkeratosis
erythema
pruritus
generalized desquamation
dry scaly skin
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 (Updated 20-May-2021)

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 SULT2B1

Anatomical Context for Ichthyosis, Congenital, Autosomal Recessive 14

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

40
Eye

Publications for Ichthyosis, Congenital, Autosomal Recessive 14

Articles related to Ichthyosis, Congenital, Autosomal Recessive 14:

(showing 2, show less)
# Title Authors PMID Year
1
Mutations in SULT2B1 Cause Autosomal-Recessive Congenital Ichthyosis in Humans. 57 6
28575648 2017
2
Human hydroxysteroid sulfotransferase SULT2B1 pharmacogenomics: gene sequence variation and functional genomics. 6
17496163 2007

Variations for Ichthyosis, Congenital, Autosomal Recessive 14

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

6 (showing 6, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SULT2B1 NM_177973.2(SULT2B1):c.71+2T>A SNV Pathogenic 426110 rs1114167426 GRCh37: 19:49055582-49055582
GRCh38: 19:48552325-48552325
2 SULT2B1 NM_177973.2(SULT2B1):c.446C>T (p.Pro149Leu) SNV Pathogenic 426107 rs1114167424 GRCh37: 19:49094888-49094888
GRCh38: 19:48591631-48591631
3 SULT2B1 NM_177973.2(SULT2B1):c.821G>A (p.Arg274Gln) SNV Pathogenic 426108 rs762765702 GRCh37: 19:49100171-49100171
GRCh38: 19:48596914-48596914
4 SULT2B1 NM_177973.2(SULT2B1):c.364dup (p.Met122fs) Duplication Pathogenic 426109 rs1114167425 GRCh37: 19:49090634-49090635
GRCh38: 19:48587377-48587378
5 SULT2B1 NM_177973.2(SULT2B1):c.232G>A (p.Glu78Lys) SNV Likely pathogenic 633833 rs140526640 GRCh37: 19:49090503-49090503
GRCh38: 19:48587246-48587246
6 SULT2B1 NM_177973.2(SULT2B1):c.298C>T (p.Arg100Trp) SNV Likely pathogenic 633834 rs1303127476 GRCh37: 19:49090569-49090569
GRCh38: 19:48587312-48587312

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

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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