autosomal recessive congenital ichthyosis 1

Summary
Synonym
  • ARCI1
Definition
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 TGM1 gene on chromosome 14q11.2.
Super Class
autosomal recessive congenital ichthyosis
External Links
Disease Ontology
DOID:0060656
Mondo Disease Ontology
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying entries 1 - 10 of 18 in total
Gene ID Gene Symbol Description Source
224 ALDH3A2 aldehyde dehydrogenase 3 family member A2
242 ALOX12B arachidonate 12-lipoxygenase, 12R type
280 AMY2B amylase alpha 2B
412 STS steroid sulfatase
1636 ACE angiotensin I converting enzyme
2629 GBA1 glucosylceramidase beta 1
6785 ELOVL4 ELOVL fatty acid elongase 4
6820 SULT2B1 sulfotransferase family 2B member 1
8630 HSD17B6 hydroxysteroid 17-beta dehydrogenase 6
8694 DGAT1 diacylglycerol O-acyltransferase 1
The Human Phenotype Ontology
Displaying entries 1 - 10 of 22 in total
HPO ID HPO Term
HP:0000083 Renal insufficiency
HP:0000164 Abnormality of the dentition
HP:0000232 Everted lower lip vermilion
HP:0000389 Chronic otitis media
HP:0000656 Ectropion
HP:0000958 Dry skin
HP:0000962 Hyperkeratosis
HP:0000989 Pruritus
HP:0001019 Erythroderma
HP:0001376 Limitation of joint mobility
Displaying all 2 entries
Gene ID Gene Symbol Description
242 ALOX12B arachidonate 12-lipoxygenase, 12R type
6820 SULT2B1 sulfotransferase family 2B member 1

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Last updated: August 19, 2024