GlyCosmos Portal

Submissions

congenital muscular dystrophy-dystroglycanopathy type A5

Summary

Synonym

MDDGA5
Walker-Warburg syndrome or muscle-eye-brain disease, FKRP-related
congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5

Definition

A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in FKRP on 19q13.32.

Super Class

congenital muscular dystrophy-dystroglycanopathy type A

External Links

Disease Ontology

DOID:0111241

Mondo Disease Ontology

MONDO:0013157

OMIM

613153

Related Genes

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
79147	FKRP	fukutin related protein	DisGeNET Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
243853	Fkrp	fukutin related protein	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
308390	Fkrp	fukutin related protein	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
37375	CG15651	uncharacterized protein	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
571426	fkrp	fukutin related protein	Alliance of Genome Resources

Displaying **all 2** entries
Gene ID	Gene Symbol	Description	Source	Organism
100145309	fkrp	fukutin related protein	Alliance of Genome Resources	Xenopus tropicalis (tropical clawed frog)
108698503	fkrp.L	fukutin related protein L homeolog	Alliance of Genome Resources	Xenopus laevis (African clawed frog)

Related Glycoprotein

Displaying 1 entry
UniProt ID	Protein Name	Source
Q9H9S5	Ribitol 5-phosphate transferase FKRP	DisGeNET

The Human Phenotype Ontology

Displaying entries **41 - 50** of 85 in total

« First

‹ Prev

1

2

3

4

5

6

7

8

9

Next ›

Last »
HPO ID	HPO Term
HP:0001263	Global developmental delay
HP:0001265	Hyporeflexia
HP:0001274	Agenesis of corpus callosum
HP:0001284	Areflexia
HP:0001302	Pachygyria
HP:0001305	Dandy-Walker malformation
HP:0001321	Cerebellar hypoplasia
HP:0001324	Muscle weakness
HP:0001328	Specific learning disability
HP:0001331	Absent septum pellucidum

Displaying entries **1 - 10** of 14 in total

1

2

Next ›

Last »
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