congenital disorder of glycosylation Ie

Summary
Synonym
  • congenital disorder of glycosylation 1e
Definition
A congenital disorder of glycosylation I that is characterized by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly and has_material_basis_in homozygous or compound heterozygous mutation in the DPM1 gene on chromosome 20q13.
Super Class
autosomal recessive disease congenital disorder of glycosylation type I
External Links
Disease Ontology
DOID:0080557
Mondo Disease Ontology
ORDO
OMIM
GARD
Related Genes
Displaying all 3 entries
Gene ID Gene Symbol Description Source
5373 PMM2 phosphomannomutase 2
8813 DPM1 dolichyl-phosphate mannosyltransferase subunit 1, catalytic
79087 ALG12 ALG12 alpha-1,6-mannosyltransferase
Displaying 1 entry
Gene ID Gene Symbol Description Source
13480 Dpm1 dolichyl-phosphate mannosyltransferase subunit 1, catalytic
Displaying 1 entry
Gene ID Gene Symbol Description Source
296394 Dpm1 dolichyl-phosphate mannosyltransferase subunit 1, catalytic
Displaying 1 entry
Gene ID Gene Symbol Description Source
35240 Dpm1 Dolichyl-phosphate mannosyltransferase subunit 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
445202 dpm1 dolichyl-phosphate mannosyltransferase subunit 1, catalytic
Displaying all 3 entries
Gene ID Gene Symbol Description Source Organism
414689 dpm1.L dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit L homeolog Xenopus laevis (African clawed frog)
496884 dpm1 dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit Xenopus tropicalis (tropical clawed frog)
734516 dpm1.S dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit S homeolog Xenopus laevis (African clawed frog)
Displaying 1 entry
Gene ID Gene Symbol Description Source
176874 dpm-1 Dolichol-phosphate mannosyltransferase subunit 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
856313 DPM1 dolichyl-phosphate beta-D-mannosyltransferase
Related Glycoprotein
The Human Phenotype Ontology
Displaying entries 51 - 60 of 80 in total
HPO ID HPO Term
HP:0010819 Atonic seizure
HP:0011152 Early onset absence seizures
HP:0011471 Gastrostomy tube feeding in infancy
HP:0012385 Camptodactyly
HP:0012448 Delayed myelination
HP:0012758 Neurodevelopmental delay
HP:0100321 Abnormal dentate nucleus morphology
HP:0100704 Cerebral visual impairment
HP:0000007 Autosomal recessive inheritance
HP:0001009 Telangiectasia
Displaying 1 entry
Gene ID Gene Symbol Description
8813 DPM1 dolichyl-phosphate mannosyltransferase subunit 1, catalytic

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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

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