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Walker-Warburg syndrome

Summary
Synonym
  • HARD syndrome
  • cerebroocular dysplasia-muscular dystrophy syndrome
Definition
A congenital muscular dystrophy that is characterized by hypotonia, seizures, severe intellectual and developmental disability, eye abnormalities and early death and has_material_basis_in mutations in multiple genes including POMT1, POMT2, ISPD, FKTN, FKRP, and LARGE1.
Super Class
autosomal recessive disease congenital muscular dystrophy
External Links
Disease Ontology
DOID:0050560
Mondo Disease Ontology
MeSH
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 9 entries
Gene ID Gene Symbol Description Source
1282 COL4A1 collagen type IV alpha 1 chain
2218 FKTN fukutin
10329 RXYLT1 ribitol xylosyltransferase 1
10585 POMT1 protein O-mannosyltransferase 1
11041 B4GAT1 beta-1,4-glucuronyltransferase 1
29954 POMT2 protein O-mannosyltransferase 2
55624 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
79147 FKRP fukutin related protein
729920 CRPPA CDP-L-ribitol pyrophosphorylase A
Displaying all 9 entries
Gene ID Gene Symbol Description Source
12826 Col4a1 collagen, type IV, alpha 1
68273 Pomgnt1 protein O-linked mannose beta 1,2-N-acetylglucosaminyltransferase
75847 Crppa CDP-L-ribitol pyrophosphorylase A
99011 Pomt1 protein-O-mannosyltransferase 1
108902 B4gat1 beta-1,4-glucuronyltransferase 1
216395 Rxylt1 ribitol xylosyltransferase 1
217734 Pomt2 protein-O-mannosyltransferase 2
243853 Fkrp fukutin related protein
246179 Fktn fukutin
Displaying all 7 entries
Gene ID Gene Symbol Description Source
84430 Pomt1 protein-O-mannosyltransferase 1
293667 B4gat1 beta-1,4-glucuronyltransferase 1
299841 Rxylt1 ribitol xylosyltransferase 1
308390 Fkrp fukutin related protein
362520 Fktn fukutin
362567 Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
688673 Pomt2 protein-O-mannosyltransferase 2
Displaying all 5 entries
Gene ID Gene Symbol Description Source
31024 tw twisted
33727 Col4a1 Collagen type IV alpha 1
37375 CG15651 uncharacterized protein
37861 CG3253 uncharacterized protein
39297 rt rotated abdomen
Displaying all 7 entries
Gene ID Gene Symbol Description Source
557187 rxylt1 ribitol xylosyltransferase 1
563878 pomt2 protein-O-mannosyltransferase 2
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 entries 1 - 10 of 13 in total
Gene ID Gene Symbol Description Source Organism
414570 pomgnt1.L protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) L homeolog Xenopus laevis (African clawed frog)
448433 pomt1 protein-O-mannosyltransferase 1 Xenopus tropicalis (tropical clawed frog)
495292 pomgnt1.S protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) S homeolog Xenopus laevis (African clawed frog)
495324 fktn.S fukutin S homeolog Xenopus laevis (African clawed frog)
100124956 fktn fukutin Xenopus tropicalis (tropical clawed frog)
100145309 fkrp fukutin related protein Xenopus tropicalis (tropical clawed frog)
100145540 rxylt1 ribitol xylosyltransferase 1 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)
100490100 pomt2 protein-O-mannosyltransferase 2 Xenopus tropicalis (tropical clawed frog)
Displaying all 4 entries
Gene ID Gene Symbol Description Source
173469 T07D3.4 Fukutin;Nucleotidyltransferase family protein
181708 let-2 Collagen alpha-2(IV) chain
188207 T07A5.1 Uncharacterized protein
189104 W02B3.4 Uncharacterized protein
Displaying all 4 entries
Gene ID Gene Symbol Description Source
851210 PMT2 dolichyl-phosphate-mannose-protein mannosyltransferase PMT2
853113 PMT6 dolichyl-phosphate-mannose-protein mannosyltransferase PMT6
853608 PMT4 dolichyl-phosphate-mannose-protein mannosyltransferase
854499 PMT3 dolichyl-phosphate-mannose-protein mannosyltransferase PMT3
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
O75072 Ribitol-5-phosphate transferase FKTN
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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