muscular dystrophy-dystroglycanopathy type B15

Summary
Synonym
  • MDDGB15
  • congenital muscular dystrophy DPM3-related
Definition
A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the DPM3 gene on chromosome 1q22.
Super Class
autosomal recessive disease muscular dystrophy-dystroglycanopathy type B
External Links
Disease Ontology
DOID:0112376
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
54344 DPM3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory
Displaying 1 entry
Gene ID Gene Symbol Description Source
3885575 Dpm3 Dolichyl-phosphate mannosyltransferase subunit 3
The Human Phenotype Ontology
Displaying entries 1 - 10 of 44 in total
HPO ID HPO Term
HP:0000028 Cryptorchidism
HP:0000054 Micropenis
HP:0000252 Microcephaly
HP:0000478 Abnormality of the eye
HP:0000486 Strabismus
HP:0000545 Myopia
HP:0000580 Pigmentary retinopathy
HP:0000707 Abnormality of the nervous system
HP:0001249 Intellectual disability
HP:0001263 Global developmental delay
Displaying all 6 entries
Gene ID Gene Symbol Description
10585 POMT1 protein O-mannosyltransferase 1
29925 GMPPB GDP-mannose pyrophosphorylase B
29954 POMT2 protein O-mannosyltransferase 2
79147 FKRP fukutin related protein
9215 LARGE1 LARGE xylosyl- and glucuronyltransferase 1
54344 DPM3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory

About Release Notes Help Feedback

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


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.0.0

Last updated: August 19, 2024