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muscular dystrophy-dystroglycanopathy type B1

Summary
Synonym
  • CMD due to dystroglycanopathy
  • Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1
Definition
A congenital muscular dystrophy characterized by muscle weakness, cognitive impairment and brain abnormalities and has_material_basis_in mutation to the POMT1 gene that encodes O-mannosyltransferase.
Super Class
autosomal recessive disease muscular dystrophy-dystroglycanopathy type B
External Links
Disease Ontology
DOID:0050588
Mondo Disease Ontology
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying entries 11 - 20 of 27 in total
Gene ID Gene Symbol Description Source
4534 MTM1 myotubularin 1
5563 PRKAA2 protein kinase AMP-activated catalytic subunit alpha 2
9200 HACD1 3-hydroxyacyl-CoA dehydratase 1
9215 LARGE1 LARGE xylosyl- and glucuronyltransferase 1
10329 RXYLT1 ribitol xylosyltransferase 1
10585 POMT1 protein O-mannosyltransferase 1
11041 B4GAT1 beta-1,4-glucuronyltransferase 1
29925 GMPPB GDP-mannose pyrophosphorylase B
29954 POMT2 protein O-mannosyltransferase 2
51763 INPP5K inositol polyphosphate-5-phosphatase K
Displaying all 6 entries
Gene ID Gene Symbol Description Source
16795 Large1 LARGE xylosyl- and glucuronyltransferase 1
68273 Pomgnt1 protein O-linked mannose beta 1,2-N-acetylglucosaminyltransferase
99011 Pomt1 protein-O-mannosyltransferase 1
108902 B4gat1 beta-1,4-glucuronyltransferase 1
243853 Fkrp fukutin related protein
246179 Fktn fukutin
Displaying all 6 entries
Gene ID Gene Symbol Description Source
84430 Pomt1 protein-O-mannosyltransferase 1
293667 B4gat1 beta-1,4-glucuronyltransferase 1
308390 Fkrp fukutin related protein
361368 Large1 LARGE xylosyl- and glucuronyltransferase 1
362520 Fktn fukutin
362567 Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
Displaying all 4 entries
Gene ID Gene Symbol Description Source
36773 Dg Dystroglycan
37375 CG15651 uncharacterized protein
37861 CG3253 uncharacterized protein
39297 rt rotated abdomen
Displaying all 6 entries
Gene ID Gene Symbol Description Source
446213 large1 LARGE xylosyl- and glucuronyltransferase 1
569769 pomt1 protein-O-mannosyltransferase 1
571426 fkrp fukutin related protein
571876 pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
100006345 fktn fukutin
101669768 b4gat1 beta-1,4-glucuronyltransferase 1
Displaying all 7 entries
Gene ID Gene Symbol Description Source Organism
448433 pomt1 protein-O-mannosyltransferase 1 Xenopus tropicalis (tropical clawed frog)
100124956 fktn fukutin Xenopus tropicalis (tropical clawed frog)
100145309 fkrp fukutin related protein Xenopus tropicalis (tropical clawed frog)
100158594 pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) Xenopus tropicalis (tropical clawed frog)
100170600 b4gat1 beta-1,4-glucuronyltransferase 1 Xenopus tropicalis (tropical clawed frog)
100498555 large1 LARGE xylosyl- and glucuronyltransferase 1 Xenopus tropicalis (tropical clawed frog)
108699937 pomt1.S protein-O-mannosyltransferase 1 S homeolog Xenopus laevis (African clawed frog)
Displaying all 6 entries
Gene ID Gene Symbol Description Source
173469 T07D3.4 Fukutin;Nucleotidyltransferase family protein
182795 bgnt-1.4 B3GNT1, Beta-1,3-N-acetylGucosamiNylTransferase 1, homolog;Glyco_trans_2-like domain-containing protein
187206 lge-1 Glycosyltransferase-like protein LARGE
188207 T07A5.1 Uncharacterized protein
189104 W02B3.4 Uncharacterized protein
3565692 bgnt-1.5 B3GNT1, Beta-1,3-N-acetylGucosamiNylTransferase 1, homolog
Displaying 1 entry
Gene ID Gene Symbol Description Source
853608 PMT4 dolichyl-phosphate-mannose-protein mannosyltransferase
Related Glycoprotein
The Human Phenotype Ontology
Displaying entries 1 - 10 of 86 in total
HPO ID HPO Term
HP:0000028 Cryptorchidism
HP:0000054 Micropenis
HP:0000158 Macroglossia
HP:0000238 Hydrocephalus
HP:0000252 Microcephaly
HP:0000478 Abnormality of the eye
HP:0000485 Megalocornea
HP:0000486 Strabismus
HP:0000518 Cataract
HP:0000525 Abnormality iris morphology
Displaying all 7 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
55624 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
84197 POMK protein O-mannose kinase
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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