MDDGA5
MCID: MSC034
MIFTS: 27

Muscular Dystrophy-Dystroglycanopathy , Type a, 5 (MDDGA5)

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

Aliases & Classifications for Muscular Dystrophy-Dystroglycanopathy , Type a, 5

MalaCards integrated aliases for Muscular Dystrophy-Dystroglycanopathy , Type a, 5:

Name: Muscular Dystrophy-Dystroglycanopathy , Type a, 5 57 72 13 6 70
Mddga5 57 72
Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies A5 72
Walker-Warburg Syndrome or Muscle-Eye-Brain Disease, Fkrp-Related 57
Muscle-Eye-Brain Disease Fkrp-Related 72
Walker-Warburg Syndrome Fkrp-Related 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
death in childhood
onset at birth

Inheritance:
autosomal recessive


HPO:

31
muscular dystrophy-dystroglycanopathy , type a, 5:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset death in childhood


Classifications:



Summaries for Muscular Dystrophy-Dystroglycanopathy , Type a, 5

OMIM® : 57 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of DAG1 (128239), collectively known as 'dystroglycanopathies' (Beltran-Valero de Bernabe et al., 2004). For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (236670). (613153) (Updated 05-Apr-2021)

MalaCards based summary : Muscular Dystrophy-Dystroglycanopathy , Type a, 5, also known as mddga5, is related to congenital muscular dystrophy-dystroglycanopathy type a5. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type a, 5 is FKRP (Fukutin Related Protein). Affiliated tissues include eye, brain and pons, and related phenotypes are hydrocephalus and respiratory insufficiency

UniProtKB/Swiss-Prot : 72 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A5: An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound mental retardation, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle- eye-brain disease.

Related Diseases for Muscular Dystrophy-Dystroglycanopathy , Type a, 5

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 Muscular Dystrophy-Dystroglycanopathy , Type a, 5 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 congenital muscular dystrophy-dystroglycanopathy type a5 11.0

Symptoms & Phenotypes for Muscular Dystrophy-Dystroglycanopathy , Type a, 5

Human phenotypes related to Muscular Dystrophy-Dystroglycanopathy , Type a, 5:

31 (show all 24)
# Description HPO Frequency HPO Source Accession
1 hydrocephalus 31 HP:0000238
2 respiratory insufficiency 31 HP:0002093
3 cataract 31 HP:0000518
4 corneal opacity 31 HP:0007957
5 myopia 31 HP:0000545
6 elevated serum creatine kinase 31 HP:0003236
7 motor delay 31 HP:0001270
8 left ventricular hypertrophy 31 HP:0001712
9 retinal detachment 31 HP:0000541
10 microphthalmia 31 HP:0000568
11 dandy-walker malformation 31 HP:0001305
12 hyporeflexia 31 HP:0001265
13 severe muscular hypotonia 31 HP:0006829
14 cerebellar hypoplasia 31 HP:0001321
15 pachygyria 31 HP:0001302
16 muscular dystrophy 31 HP:0003560
17 intellectual disability, profound 31 HP:0002187
18 abnormality of the cerebral white matter 31 HP:0002500
19 coloboma 31 HP:0000589
20 hypoplasia of the pons 31 HP:0012110
21 type ii lissencephaly 31 HP:0007260
22 cerebellar dysplasia 31 HP:0007033
23 hypoplasia of the brainstem 31 HP:0002365
24 agyria 31 HP:0031882

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
hydrocephalus
dandy-walker malformation
cerebellar hypoplasia
pachygyria
cerebellar dysplasia
more
Head And Neck Eyes:
cataract
myopia
retinal detachment
microphthalmia
coloboma
more
Neurologic Peripheral Nervous System:
hyporeflexia

Laboratory Abnormalities:
increased serum creatine kinase

Respiratory:
respiratory insufficiency

Cardiovascular Heart:
left ventricular hypertrophy

Muscle Soft Tissue:
muscular dystrophy
hypotonia, severe

Clinical features from OMIM®:

613153 (Updated 05-Apr-2021)

Drugs & Therapeutics for Muscular Dystrophy-Dystroglycanopathy , Type a, 5

Search Clinical Trials , NIH Clinical Center for Muscular Dystrophy-Dystroglycanopathy , Type a, 5

Genetic Tests for Muscular Dystrophy-Dystroglycanopathy , Type a, 5

Anatomical Context for Muscular Dystrophy-Dystroglycanopathy , Type a, 5

MalaCards organs/tissues related to Muscular Dystrophy-Dystroglycanopathy , Type a, 5:

40
Eye, Brain, Pons

Publications for Muscular Dystrophy-Dystroglycanopathy , Type a, 5

Articles related to Muscular Dystrophy-Dystroglycanopathy , Type a, 5:

# 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 57
20236121 2010
2
Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome. 57 6
15121789 2004
3
Phenotypic spectrum associated with mutations in the fukutin-related protein gene. 6
12666124 2003
4
Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease. 57
11320179 2001
5
Overexpression of Mutant FKRP Restores Functional Glycosylation and Improves Dystrophic Phenotype in FKRP Mutant Mice. 61
29858056 2018

Variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 5

ClinVar genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 5:

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.826C>A (p.Leu276Ile) SNV Pathogenic 4221 rs28937900 GRCh37: 19:47259533-47259533
GRCh38: 19:46756276-46756276
4 FKRP NM_024301.5(FKRP):c.919T>A (p.Tyr307Asn) SNV Pathogenic 4233 rs104894692 GRCh37: 19:47259626-47259626
GRCh38: 19:46756369-46756369
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.1387A>G (p.Asn463Asp) SNV Pathogenic 4235 rs121908110 GRCh37: 19:47260094-47260094
GRCh38: 19:46756837-46756837
7 FKRP NM_024301.5(FKRP):c.826C>A (p.Leu276Ile) SNV Pathogenic 4221 rs28937900 GRCh37: 19:47259533-47259533
GRCh38: 19:46756276-46756276
8 FKRP NM_024301.5(FKRP):c.883C>G (p.Arg295Gly) SNV Likely pathogenic 917941 GRCh37: 19:47259590-47259590
GRCh38: 19:46756333-46756333
9 FKRP NM_024301.5(FKRP):c.402_403del (p.Arg134_Ala135insTer) Deletion Likely pathogenic 267730 rs886041004 GRCh37: 19:47259108-47259109
GRCh38: 19:46755851-46755852
10 FKRP NM_024301.5(FKRP):c.545A>G (p.Tyr182Cys) SNV Likely pathogenic 282247 rs543163491 GRCh37: 19:47259252-47259252
GRCh38: 19:46755995-46755995
11 FKRP NM_024301.5(FKRP):c.1343C>T (p.Pro448Leu) SNV Likely pathogenic 4220 rs104894681 GRCh37: 19:47260050-47260050
GRCh38: 19:46756793-46756793
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.128C>G (p.Ser43Cys) SNV Uncertain significance 488159 rs1555738085 GRCh37: 19:47258835-47258835
GRCh38: 19:46755578-46755578
19 FKRP NM_024301.5(FKRP):c.1073C>T (p.Pro358Leu) SNV Uncertain significance 167072 rs143031195 GRCh37: 19:47259780-47259780
GRCh38: 19:46756523-46756523
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.323T>C (p.Leu108Pro) SNV Uncertain significance 857909 GRCh37: 19:47259030-47259030
GRCh38: 19:46755773-46755773
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

UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 5:

72
# Symbol AA change Variation ID SNP ID
1 FKRP p.Tyr307Asn VAR_022850 rs104894692
2 FKRP p.Cys318Tyr VAR_022852 rs104894684

Expression for Muscular Dystrophy-Dystroglycanopathy , Type a, 5

Search GEO for disease gene expression data for Muscular Dystrophy-Dystroglycanopathy , Type a, 5.

Pathways for Muscular Dystrophy-Dystroglycanopathy , Type a, 5

GO Terms for Muscular Dystrophy-Dystroglycanopathy , Type a, 5

Sources for Muscular Dystrophy-Dystroglycanopathy , Type a, 5

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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