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Standards Ontologies Notations
congenital disorder of glycosylation If

Summary
Synonym
  • congenital disorder of glycosylation 1f
Definition
A congenital disorder of glycosylation I that is characterized by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies and has_material_basis_in homozygous or compound heterozygous mutation in the MPDU1 gene on chromosome 17p13.
Super Class
autosomal recessive disease congenital disorder of glycosylation type I
Disease Ontology
DOID:0080558
Mondo Disease Ontology
ORDO
OMIM
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
9526 MPDU1 mannose-P-dolichol utilization defect 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
24070 Mpdu1 mannose-P-dolichol utilization defect 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
303244 Mpdu1 mannose-P-dolichol utilization defect 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
33717 CG3792 uncharacterized protein
Displaying all 2 entries
Gene ID Gene Symbol Description Source
415220 mpdu1b mannose-P-dolichol utilization defect 1b
447806 mpdu1a mannose-P-dolichol utilization defect 1a
Displaying 1 entry
Gene ID Gene Symbol Description Source Organism
548940 mpdu1 mannose-P-dolichol utilization defect 1 Xenopus tropicalis (tropical clawed frog)
Displaying 1 entry
Gene ID Gene Symbol Description Source
179218 mpdu-1 Mannose-P-dolichol utilization defect 1 protein homolog
The Human Phenotype Ontology
Displaying entries 1 - 10 of 40 in total
HPO ID HPO Term
HP:0001250 Seizure
HP:0008064 Ichthyosis
HP:0000648 Optic atrophy
HP:0011968 Feeding difficulties
HP:0003236 Elevated circulating creatine kinase concentration
HP:0000242 Parietal bossing
HP:0008947 Infantile muscular hypotonia
HP:0002119 Ventriculomegaly
HP:0012704 Widened subarachnoid space
HP:0000824 Decreased response to growth hormone stimulation test
Displaying 1 entry
Gene ID Gene Symbol Description
9526 MPDU1 mannose-P-dolichol utilization defect 1
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International Collaboration

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: December 9, 2024