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Standards Ontologies Notations
congenital muscular dystrophy-dystroglycanopathy type A2

Summary
Synonym
  • MDDGA2
  • Walker-Warburg syndrome or muscle-eye-brain disease, POMT2-related
  • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A2
Definition
A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT2 on 14q24.3.
Super Class
congenital muscular dystrophy-dystroglycanopathy type A
External Links
Disease Ontology
DOID:0111240
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
29954 POMT2 protein O-mannosyltransferase 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
217734 Pomt2 protein-O-mannosyltransferase 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
688673 Pomt2 protein-O-mannosyltransferase 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
31024 tw twisted
Displaying 1 entry
Gene ID Gene Symbol Description Source
563878 pomt2 protein-O-mannosyltransferase 2
Displaying all 2 entries
Gene ID Gene Symbol Description Source Organism
100490100 pomt2 protein-O-mannosyltransferase 2 Xenopus tropicalis (tropical clawed frog)
108698684 pomt2.L protein-O-mannosyltransferase 2 L homeolog Xenopus laevis (African clawed frog)
Displaying all 3 entries
Gene ID Gene Symbol Description Source
851210 PMT2 dolichyl-phosphate-mannose-protein mannosyltransferase PMT2
853113 PMT6 dolichyl-phosphate-mannose-protein mannosyltransferase PMT6
854499 PMT3 dolichyl-phosphate-mannose-protein mannosyltransferase PMT3
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q9UKY4 Protein O-mannosyl-transferase 2
The Human Phenotype Ontology
Displaying entries 71 - 80 of 88 in total
HPO ID HPO Term
HP:0000158 Macroglossia
HP:0002350 Cerebellar cyst
HP:0007033 Cerebellar dysplasia
HP:0001522 Death in infancy
HP:0002951 Partial absence of cerebellar vermis
HP:0000007 Autosomal recessive inheritance
HP:0002365 Hypoplasia of the brainstem
HP:0003577 Congenital onset
HP:0007260 Type II lissencephaly
HP:0000557 Buphthalmos
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