congenital disorder of glycosylation Iu

Summary
Synonym
  • congenital disorder of glycosylation 1u
Definition
A congenital disorder of glycosylation I that is characterized by respiratory distress and severe hypotonia at birth, severe global developmental delay, early-onset intractable seizures, myopathic fascies with craniofacial dysmorphism (trigonocephaly/progressive microcephaly, low anterior hairline, arched eyebrows, hypotelorism, strabismus, small nose, prominent philtrum, thin upper lip, high-arched palate, micrognathia, malocclusion), severe, congenital flexion joint contractures and elevated serum creatine kinase levels and has_material_basis_in homozygous or compound heterozygous mutation in the DPM2 gene on chromosome 9q34.
Super Class
autosomal recessive disease congenital disorder of glycosylation type I
External Links
Disease Ontology
DOID:0080571
Mondo Disease Ontology
ORDO
OMIM
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
8818 DPM2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory
Displaying 1 entry
Gene ID Gene Symbol Description Source
13481 Dpm2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory
Displaying 1 entry
Gene ID Gene Symbol Description Source
29640 Dpm2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory
Displaying 1 entry
Gene ID Gene Symbol Description Source
8674033 Dpm2 Dolichyl-phosphate mannosyltransferase subunit 2
The Human Phenotype Ontology
Displaying entries 1 - 10 of 51 in total
HPO ID HPO Term
HP:0001508 Failure to thrive
HP:0003241 External genital hypoplasia
HP:0000601 Hypotelorism
HP:0002205 Recurrent respiratory infections
HP:0000253 Progressive microcephaly
HP:0002650 Scoliosis
HP:0001263 Global developmental delay
HP:0010851 EEG with burst suppression
HP:0002002 Deep philtrum
HP:0000219 Thin upper lip vermilion
Displaying 1 entry
Gene ID Gene Symbol Description
8818 DPM2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory

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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