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Standards Ontologies Notations
congenital muscular dystrophy-dystroglycanopathy type A1

Summary
Synonym
  • MDDGA1
  • Walker-Warburg syndrome or muscle-eye-brain disease, POMT1-related
  • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A1
Definition
A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT1 on 9q34.13.
Super Class
congenital muscular dystrophy-dystroglycanopathy type A
External Links
Disease Ontology
DOID:0111237
Mondo Disease Ontology
OMIM
Related Genes
Displaying entries 11 - 16 of 16 in total
Gene ID Gene Symbol Description Source
56052 ALG1 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase
79147 FKRP fukutin related protein
84197 POMK protein O-mannose kinase
84892 POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
148789 B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2
729920 CRPPA CDP-L-ribitol pyrophosphorylase A
Displaying 1 entry
Gene ID Gene Symbol Description Source
99011 Pomt1 protein-O-mannosyltransferase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
84430 Pomt1 protein-O-mannosyltransferase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
39297 rt rotated abdomen
Displaying 1 entry
Gene ID Gene Symbol Description Source
569769 pomt1 protein-O-mannosyltransferase 1
Displaying all 2 entries
Gene ID Gene Symbol Description Source Organism
448433 pomt1 protein-O-mannosyltransferase 1 Xenopus tropicalis (tropical clawed frog)
108699937 pomt1.S protein-O-mannosyltransferase 1 S homeolog Xenopus laevis (African clawed frog)
Displaying 1 entry
Gene ID Gene Symbol Description Source
853608 PMT4 dolichyl-phosphate-mannose-protein mannosyltransferase
Related Glycoprotein
The Human Phenotype Ontology
Displaying entries 21 - 30 of 100 in total
HPO ID HPO Term
HP:0007360 Aplasia/Hypoplasia of the cerebellum
HP:0100022 Abnormality of movement
HP:0100543 Cognitive impairment
HP:0000028 Cryptorchidism
HP:0000175 Cleft palate
HP:0000176 Submucous cleft hard palate
HP:0000193 Bifid uvula
HP:0000252 Microcephaly
HP:0000256 Macrocephaly
HP:0000358 Posteriorly rotated ears
Displaying entries 11 - 14 of 14 in total
Gene ID Gene Symbol Description
11041 B4GAT1 beta-1,4-glucuronyltransferase 1
1605 DAG1 dystroglycan 1
84197 POMK protein O-mannose kinase
84892 POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
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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