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Fukuyama congenital muscular dystrophy

Summary
Definition
A congenital muscular dystrophy-dystroglycanopathy type A that is characterized by muscle weakness, failure to thrive, severe intellectual and developmental disability, impaired vision and cardiac abnormalities and has_material_basis_in mutation in the FKTN gene that produces the fukutin protein.
Super Class
congenital muscular dystrophy-dystroglycanopathy type A
External Links
Disease Ontology
DOID:0050559
Mondo Disease Ontology
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying entries 11 - 15 of 15 in total
Gene ID Gene Symbol Description Source
84197 POMK protein O-mannose kinase
84892 POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
135228 CD109 CD109 molecule
148789 B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2
729920 CRPPA CDP-L-ribitol pyrophosphorylase A
Displaying 1 entry
Gene ID Gene Symbol Description Source
246179 Fktn fukutin
Displaying 1 entry
Gene ID Gene Symbol Description Source
362520 Fktn fukutin
Displaying 1 entry
Gene ID Gene Symbol Description Source
36773 Dg Dystroglycan
Displaying 1 entry
Gene ID Gene Symbol Description Source
100006345 fktn fukutin
Displaying all 2 entries
Gene ID Gene Symbol Description Source Organism
495324 fktn.S fukutin S homeolog Xenopus laevis (African clawed frog)
100124956 fktn fukutin Xenopus tropicalis (tropical clawed frog)
Displaying all 3 entries
Gene ID Gene Symbol Description Source
173469 T07D3.4 Fukutin;Nucleotidyltransferase family protein
188207 T07A5.1 Uncharacterized protein
189104 W02B3.4 Uncharacterized protein
Related Glycoprotein
The Human Phenotype Ontology
Displaying entries 31 - 40 of 97 in total
HPO ID HPO Term
HP:0001371 Flexion contracture
HP:0001511 Intrauterine growth retardation
HP:0001612 Weak cry
HP:0001644 Dilated cardiomyopathy
HP:0002119 Ventriculomegaly
HP:0003560 Muscular dystrophy
HP:0007260 Type II lissencephaly
HP:0007370 Aplasia/Hypoplasia of the corpus callosum
HP:0007973 Retinal dysplasia
HP:0010864 Intellectual disability, severe
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