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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 91 - 100 of 100 in total
HPO ID HPO Term
HP:0003577 Congenital onset
HP:0006829 Severe muscular hypotonia
HP:0006888 Meningoencephalocele
HP:0007033 Cerebellar dysplasia
HP:0007260 Type II lissencephaly
HP:0007291 Posterior fossa cyst
HP:0008551 Microtia
HP:0008872 Feeding difficulties in infancy
HP:0010864 Intellectual disability, severe
HP:0012793 Kinked brainstem
Displaying entries 1 - 10 of 14 in total
Gene ID Gene Symbol Description
10585 POMT1 protein O-mannosyltransferase 1
148789 B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2
2218 FKTN fukutin
29925 GMPPB GDP-mannose pyrophosphorylase B
29954 POMT2 protein O-mannosyltransferase 2
55624 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
729920 CRPPA CDP-L-ribitol pyrophosphorylase A
79147 FKRP fukutin related protein
9215 LARGE1 LARGE xylosyl- and glucuronyltransferase 1
10329 RXYLT1 ribitol xylosyltransferase 1
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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