congenital disorder of glycosylation Iq

Summary
Synonym
  • congenital disorder of glycosylation 1q
Definition
A congenital disorder of glycosylation I that is characterized by a highly variable phenotype typically presenting with severe visual impairment, variable ocular anomalies (such as optic nerve hypoplasia/atrophy, iris and optic nerve coloboma, congenital cataract, glaucoma), intellectual disability, cerebellar abnormalities, nystagmus, hypotonia, ataxia, and/or ichthyosiform skin lesions and has_material_basis_in homozygous or compound heterozygous mutation in the SRD5A3 gene on chromosome 4q12.
Super Class
autosomal recessive disease congenital disorder of glycosylation type I
External Links
Disease Ontology
DOID:0080568
Mondo Disease Ontology
ORDO
OMIM
GARD
Related Genes
Displaying all 8 entries
Gene ID Gene Symbol Description Source
4351 MPI mannose phosphate isomerase
5373 PMM2 phosphomannomutase 2
7841 MOGS mannosyl-oligosaccharide glucosidase
8813 DPM1 dolichyl-phosphate mannosyltransferase subunit 1, catalytic
9526 MPDU1 mannose-P-dolichol utilization defect 1
10559 SLC35A1 solute carrier family 35 member A1
22845 DOLK dolichol kinase
79644 SRD5A3 steroid 5 alpha-reductase 3
The Human Phenotype Ontology
Displaying entries 1 - 10 of 55 in total
HPO ID HPO Term
HP:0001263 Global developmental delay
HP:0008947 Infantile muscular hypotonia
HP:0000677 Oligodontia
HP:0002334 Abnormal cerebellar vermis morphology
HP:0000572 Visual loss
HP:0001928 Abnormality of coagulation
HP:0005107 Abnormal sacrum morphology
HP:0000998 Hypertrichosis
HP:0000510 Rod-cone dystrophy
HP:0001976 Reduced antithrombin III activity
Displaying 1 entry
Gene ID Gene Symbol Description
79644 SRD5A3 steroid 5 alpha-reductase 3

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024