MCID: CNG558
MIFTS: 27

Congenital Muscular Dystrophy-Dystroglycanopathy Type A5

Categories: Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Congenital Muscular Dystrophy-Dystroglycanopathy Type A5

MalaCards integrated aliases for Congenital Muscular Dystrophy-Dystroglycanopathy Type A5:

Name: Congenital Muscular Dystrophy-Dystroglycanopathy Type A5 12 15
Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies Type A5 12 29 6
Walker-Warburg Syndrome or Muscle-Eye-Brain Disease, Fkrp-Related 12
Mddga5 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0111241

Summaries for Congenital Muscular Dystrophy-Dystroglycanopathy Type A5

Disease Ontology : 12 A congenital muscular dystrophy-dystroglycanopathy type A that has material basis in homozygous or compound heterozygous mutation in FKRP on 19q13.32.

MalaCards based summary : Congenital Muscular Dystrophy-Dystroglycanopathy Type A5, also known as congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type a5, is related to muscular dystrophy-dystroglycanopathy , type a, 5 and muscular dystrophy-dystroglycanopathy , type c, 7. An important gene associated with Congenital Muscular Dystrophy-Dystroglycanopathy Type A5 is FKRP (Fukutin Related Protein), and among its related pathways/superpathways are O-linked glycosylation and Mannose type O-glycan biosynthesis. Affiliated tissues include eye and brain.

Related Diseases for Congenital Muscular Dystrophy-Dystroglycanopathy Type A5

Diseases in the Muscular Dystrophy-Dystroglycanopathy family:

Muscular Dystrophy-Dystroglycanopathy , Type a, 1 Muscular Dystrophy-Dystroglycanopathy , Type a, 3
Muscular Dystrophy-Dystroglycanopathy , Type a, 4 Muscular Dystrophy-Dystroglycanopathy , Type B, 5
Muscular Dystrophy-Dystroglycanopathy , Type C, 5 Muscular Dystrophy-Dystroglycanopathy , Type B, 6
Muscular Dystrophy-Dystroglycanopathy , Type C, 1 Muscular Dystrophy-Dystroglycanopathy , Type C, 4
Muscular Dystrophy-Dystroglycanopathy , Type C, 15 Muscular Dystrophy-Dystroglycanopathy , Type a, 2
Muscular Dystrophy-Dystroglycanopathy , Type B, 3 Muscular Dystrophy-Dystroglycanopathy , Type B, 4
Muscular Dystrophy-Dystroglycanopathy , Type a, 5 Muscular Dystrophy-Dystroglycanopathy , Type a, 6
Muscular Dystrophy-Dystroglycanopathy , Type B, 1 Muscular Dystrophy-Dystroglycanopathy , Type B, 2
Muscular Dystrophy-Dystroglycanopathy , Type C, 3 Muscular Dystrophy-Dystroglycanopathy , Type C, 2
Muscular Dystrophy-Dystroglycanopathy , Type C, 9 Muscular Dystrophy-Dystroglycanopathy , Type a, 7
Muscular Dystrophy-Dystroglycanopathy , Type a, 8 Muscular Dystrophy-Dystroglycanopathy , Type a, 10
Muscular Dystrophy-Dystroglycanopathy , Type a, 11 Muscular Dystrophy-Dystroglycanopathy , Type a, 12
Muscular Dystrophy-Dystroglycanopathy , Type a, 13 Muscular Dystrophy-Dystroglycanopathy , Type a, 14
Muscular Dystrophy-Dystroglycanopathy , Type B, 14 Muscular Dystrophy-Dystroglycanopathy , Type C, 14
Muscular Dystrophy-Dystroglycanopathy , Type C, 7 Muscular Dystrophy-Dystroglycanopathy , Type C, 12
Muscular Dystrophy-Dystroglycanopathy , Type a, 9 Muscular Dystrophy-Dystroglycanopathy , Type C, 8
Muscular Dystrophy-Dystroglycanopathy , Type B, 15 Congenital Muscular Dystrophy-Dystroglycanopathy Type a
Congenital Muscular Dystrophy-Dystroglycanopathy Type A11 Congenital Muscular Dystrophy-Dystroglycanopathy Type A8
Congenital Muscular Dystrophy-Dystroglycanopathy Type A9 Congenital Muscular Dystrophy-Dystroglycanopathy A14
Congenital Muscular Dystrophy-Dystroglycanopathy A7 Congenital Muscular Dystrophy-Dystroglycanopathy Type A12
Congenital Muscular Dystrophy-Dystroglycanopathy Type A3 Congenital Muscular Dystrophy-Dystroglycanopathy Type A1
Congenital Muscular Dystrophy-Dystroglycanopathy Type A13 Congenital Muscular Dystrophy-Dystroglycanopathy Type A10
Congenital Muscular Dystrophy-Dystroglycanopathy Type A2 Congenital Muscular Dystrophy-Dystroglycanopathy Type A5
Congenital Muscular Dystrophy-Dystroglycanopathy Type A6

Diseases related to Congenital Muscular Dystrophy-Dystroglycanopathy Type A5 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 46)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy-dystroglycanopathy , type a, 5 11.2
2 muscular dystrophy-dystroglycanopathy , type c, 7 10.0 RXYLT1 FKRP
3 congenital muscular dystrophy-dystroglycanopathy type a1 10.0 FKRP DAG1
4 autosomal recessive limb-girdle muscular dystrophy type 2l 10.0 FKRP DAG1
5 autosomal recessive limb-girdle muscular dystrophy type 2c 10.0 FKRP DAG1
6 autosomal recessive limb-girdle muscular dystrophy type 2f 10.0 FKRP DAG1
7 muscular dystrophy-dystroglycanopathy , type c, 2 10.0 FKRP DAG1
8 cardiomyopathy, dilated, 1d 10.0 FKRP DAG1
9 muscular dystrophy-dystroglycanopathy , type c, 1 10.0 FKRP DAG1
10 autosomal recessive limb-girdle muscular dystrophy type 2a 10.0 FKRP DAG1
11 autosomal recessive limb-girdle muscular dystrophy type 2d 10.0 FKRP DAG1
12 muscular dystrophy, congenital merosin-deficient, 1a 9.9 FKRP DAG1
13 autosomal recessive limb-girdle muscular dystrophy type 2b 9.9 FKRP DAG1
14 adermatoglyphia 9.9 FKRP DAG1
15 hydrophthalmos 9.9 DAG1 B3GNT2
16 nonaka myopathy 9.9 FKRP DAG1
17 isolated elevated serum creatine phosphokinase levels 9.9 FKRP DAG1
18 rigid spine muscular dystrophy 1 9.9 FKRP DAG1
19 ullrich congenital muscular dystrophy 1 9.9 FKRP DAG1
20 bethlem myopathy 1 9.9 FKRP DAG1
21 miyoshi muscular dystrophy 9.8 FKRP DAG1
22 muscular dystrophy-dystroglycanopathy , type a, 1 9.8 RXYLT1 FKRP
23 congenital muscular dystrophy-dystroglycanopathy type a3 9.8 RXYLT1 POMGNT2
24 congenital nervous system abnormality 9.8 DAG1 B3GNT2
25 muscular dystrophy, congenital, 1b 9.7 RXYLT1 FKRP DAG1
26 muscular dystrophy-dystroglycanopathy , type c, 4 9.7 FKRP DAG1 B3GNT2
27 muscular dystrophy, becker type 9.7 FKRP DAG1 B3GNT2
28 muscular dystrophy-dystroglycanopathy , type c, 3 9.7 RXYLT1 FKRP DAG1
29 muscle tissue disease 9.7 FKRP DAG1 B3GNT2
30 muscular dystrophy, limb-girdle, autosomal recessive 2 9.7 RXYLT1 FKRP DAG1
31 congenital disorder of glycosylation, type in 9.6 DAG1 B3GNT2
32 muscle eye brain disease 9.6 POMGNT2 FKRP DAG1
33 glaucoma 3, primary congenital, a 9.5 RXYLT1 FKRP DAG1 B3GNT2
34 autosomal recessive limb-girdle muscular dystrophy 9.5 RXYLT1 FKRP DAG1 B3GNT2
35 muscular dystrophy, congenital, lmna-related 9.5 RXYLT1 FKRP DAG1 B3GNT2
36 cobblestone lissencephaly 9.3 RXYLT1 POMGNT2 FKRP DAG1
37 lissencephaly 9.3 RXYLT1 POMGNT2 FKRP DAG1
38 muscular dystrophy-dystroglycanopathy , type c, 5 9.3 POMGNT2 FKRP DAG1 B3GNT2
39 muscular disease 9.3 POMGNT2 FKRP DAG1 B3GNT2
40 muscular dystrophy-dystroglycanopathy , type b, 6 9.2 RXYLT1 FKRP EGFLAM DAG1 B3GNT2
41 muscular dystrophy 9.1 RXYLT1 POMGNT2 FKRP EGFLAM DAG1
42 muscular dystrophy-dystroglycanopathy , type b, 5 9.1 POMGNT2 FKRP EGFLAM DAG1 B3GNT2
43 congenital muscular dystrophy-dystroglycanopathy type a 8.8 RXYLT1 POMGNT2 FKRP EGFLAM DAG1 B3GNT2
44 muscular dystrophy-dystroglycanopathy 8.8 RXYLT1 POMGNT2 FKRP EGFLAM DAG1 B3GNT2
45 muscular dystrophy-dystroglycanopathy , type a, 4 8.8 RXYLT1 POMGNT2 FKRP EGFLAM DAG1 B3GNT2
46 walker-warburg syndrome 8.8 RXYLT1 POMGNT2 FKRP EGFLAM DAG1 B3GNT2

Graphical network of the top 20 diseases related to Congenital Muscular Dystrophy-Dystroglycanopathy Type A5:



Diseases related to Congenital Muscular Dystrophy-Dystroglycanopathy Type A5

Symptoms & Phenotypes for Congenital Muscular Dystrophy-Dystroglycanopathy Type A5

Drugs & Therapeutics for Congenital Muscular Dystrophy-Dystroglycanopathy Type A5

Search Clinical Trials , NIH Clinical Center for Congenital Muscular Dystrophy-Dystroglycanopathy Type A5

Genetic Tests for Congenital Muscular Dystrophy-Dystroglycanopathy Type A5

Genetic tests related to Congenital Muscular Dystrophy-Dystroglycanopathy Type A5:

# Genetic test Affiliating Genes
1 Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies Type A5 29 FKRP

Anatomical Context for Congenital Muscular Dystrophy-Dystroglycanopathy Type A5

MalaCards organs/tissues related to Congenital Muscular Dystrophy-Dystroglycanopathy Type A5:

40
Eye, Brain

Publications for Congenital Muscular Dystrophy-Dystroglycanopathy Type A5

Articles related to Congenital Muscular Dystrophy-Dystroglycanopathy Type A5:

# Title Authors PMID Year
1
A homozygous FKRP start codon mutation is associated with Walker-Warburg syndrome, the severe end of the clinical spectrum. 6
20236121 2010
2
Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome. 6
15121789 2004
3
Phenotypic spectrum associated with mutations in the fukutin-related protein gene. 6
12666124 2003
4
Overexpression of Mutant FKRP Restores Functional Glycosylation and Improves Dystrophic Phenotype in FKRP Mutant Mice. 61
29858056 2018

Variations for Congenital Muscular Dystrophy-Dystroglycanopathy Type A5

ClinVar genetic disease variations for Congenital Muscular Dystrophy-Dystroglycanopathy Type A5:

6 (show all 24)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FKRP NM_024301.5(FKRP):c.953G>A (p.Cys318Tyr) SNV Pathogenic 4234 rs104894684 GRCh37: 19:47259660-47259660
GRCh38: 19:46756403-46756403
2 FKRP NM_024301.5(FKRP):c.1A>G (p.Met1Val) SNV Pathogenic 120180 rs587777223 GRCh37: 19:47258708-47258708
GRCh38: 19:46755451-46755451
3 FKRP NM_024301.5(FKRP):c.919T>A (p.Tyr307Asn) SNV Pathogenic 4233 rs104894692 GRCh37: 19:47259626-47259626
GRCh38: 19:46756369-46756369
4 FKRP NM_024301.5(FKRP):c.826C>A (p.Leu276Ile) SNV Pathogenic 4221 rs28937900 GRCh37: 19:47259533-47259533
GRCh38: 19:46756276-46756276
5 FKRP NM_024301.5(FKRP):c.826C>A (p.Leu276Ile) SNV Pathogenic 4221 rs28937900 GRCh37: 19:47259533-47259533
GRCh38: 19:46756276-46756276
6 FKRP NM_024301.5(FKRP):c.826C>A (p.Leu276Ile) SNV Pathogenic 4221 rs28937900 GRCh37: 19:47259533-47259533
GRCh38: 19:46756276-46756276
7 FKRP NM_024301.5(FKRP):c.1387A>G (p.Asn463Asp) SNV Pathogenic 4235 rs121908110 GRCh37: 19:47260094-47260094
GRCh38: 19:46756837-46756837
8 FKRP NM_024301.5(FKRP):c.402_403del (p.Arg134_Ala135insTer) Deletion Likely pathogenic 267730 rs886041004 GRCh37: 19:47259108-47259109
GRCh38: 19:46755851-46755852
9 FKRP NM_024301.5(FKRP):c.1343C>T (p.Pro448Leu) SNV Likely pathogenic 4220 rs104894681 GRCh37: 19:47260050-47260050
GRCh38: 19:46756793-46756793
10 FKRP NM_024301.5(FKRP):c.883C>G (p.Arg295Gly) SNV Likely pathogenic 917941 GRCh37: 19:47259590-47259590
GRCh38: 19:46756333-46756333
11 FKRP NM_024301.5(FKRP):c.545A>G (p.Tyr182Cys) SNV Likely pathogenic 282247 rs543163491 GRCh37: 19:47259252-47259252
GRCh38: 19:46755995-46755995
12 FKRP NM_024301.5(FKRP):c.328C>T (p.Arg110Trp) SNV Uncertain significance 408718 rs758759348 GRCh37: 19:47259035-47259035
GRCh38: 19:46755778-46755778
13 FKRP NM_024301.5(FKRP):c.456C>G (p.Ser152Arg) SNV Uncertain significance 289565 rs199714523 GRCh37: 19:47259163-47259163
GRCh38: 19:46755906-46755906
14 FKRP NM_024301.5(FKRP):c.898G>A (p.Val300Met) SNV Uncertain significance 241460 rs563033008 GRCh37: 19:47259605-47259605
GRCh38: 19:46756348-46756348
15 FKRP NM_024301.5(FKRP):c.904G>A (p.Gly302Ser) SNV Uncertain significance 289722 rs762283381 GRCh37: 19:47259611-47259611
GRCh38: 19:46756354-46756354
16 FKRP NM_024301.5(FKRP):c.1019A>T (p.Tyr340Phe) SNV Uncertain significance 459226 rs1322997651 GRCh37: 19:47259726-47259726
GRCh38: 19:46756469-46756469
17 FKRP NM_024301.5(FKRP):c.968G>A (p.Arg323His) SNV Uncertain significance 528824 rs1349031936 GRCh37: 19:47259675-47259675
GRCh38: 19:46756418-46756418
18 FKRP NM_024301.5(FKRP):c.323T>C (p.Leu108Pro) SNV Uncertain significance 857909 GRCh37: 19:47259030-47259030
GRCh38: 19:46755773-46755773
19 FKRP NM_024301.5(FKRP):c.128C>G (p.Ser43Cys) SNV Uncertain significance 488159 rs1555738085 GRCh37: 19:47258835-47258835
GRCh38: 19:46755578-46755578
20 FKRP NM_024301.5(FKRP):c.920A>G (p.Tyr307Cys) SNV Uncertain significance 1028300 GRCh37: 19:47259627-47259627
GRCh38: 19:46756370-46756370
21 FKRP , STRN4 NM_024301.5(FKRP):c.-253+4A>G SNV Uncertain significance 1028981 GRCh37: 19:47249351-47249351
GRCh38: 19:46746094-46746094
22 FKRP NM_024301.5(FKRP):c.1073C>T (p.Pro358Leu) SNV Uncertain significance 167072 rs143031195 GRCh37: 19:47259780-47259780
GRCh38: 19:46756523-46756523
23 FKRP NM_024301.5(FKRP):c.585C>T (p.Asp195=) SNV Benign 96112 rs75079578 GRCh37: 19:47259292-47259292
GRCh38: 19:46756035-46756035
24 FKRP NM_024301.5(FKRP):c.192C>T (p.Pro64=) SNV Benign 129056 rs111754012 GRCh37: 19:47258899-47258899
GRCh38: 19:46755642-46755642

Expression for Congenital Muscular Dystrophy-Dystroglycanopathy Type A5

Search GEO for disease gene expression data for Congenital Muscular Dystrophy-Dystroglycanopathy Type A5.

Pathways for Congenital Muscular Dystrophy-Dystroglycanopathy Type A5

Pathways related to Congenital Muscular Dystrophy-Dystroglycanopathy Type A5 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.39 POMGNT2 DAG1 B3GNT2
2 10.16 RXYLT1 POMGNT2 FKRP

GO Terms for Congenital Muscular Dystrophy-Dystroglycanopathy Type A5

Cellular components related to Congenital Muscular Dystrophy-Dystroglycanopathy Type A5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Golgi membrane GO:0000139 9.33 RXYLT1 FKRP B3GNT2
2 sarcolemma GO:0042383 8.96 FKRP DAG1
3 basement membrane GO:0005604 8.62 EGFLAM DAG1

Biological processes related to Congenital Muscular Dystrophy-Dystroglycanopathy Type A5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein glycosylation GO:0006486 9.26 RXYLT1 POMGNT2 FKRP B3GNT2
2 protein O-linked mannosylation GO:0035269 8.8 RXYLT1 POMGNT2 FKRP

Molecular functions related to Congenital Muscular Dystrophy-Dystroglycanopathy Type A5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.46 RXYLT1 POMGNT2 FKRP B3GNT2
2 acetylglucosaminyltransferase activity GO:0008375 8.96 POMGNT2 B3GNT2
3 dystroglycan binding GO:0002162 8.62 FKRP DAG1

Sources for Congenital Muscular Dystrophy-Dystroglycanopathy Type A5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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