MCID: MSC034
MIFTS: 29

Muscular Dystrophy-Dystroglycanopathy , Type a, 5

Categories: Genetic diseases, Neuronal diseases, Muscle diseases, Mental diseases, Rare diseases, Metabolic diseases, Fetal diseases, Eye 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 54 13 69
Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies Type A5 29
Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies A5 71
Muscle-Eye-Brain Disease Fkrp-Related 71
Walker-Warburg Syndrome Fkrp-Related 71
Mddga5 71

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
death in childhood


HPO:

32
muscular dystrophy-dystroglycanopathy , type a, 5:
Mortality/Aging death in childhood
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Muscular Dystrophy-Dystroglycanopathy , Type a, 5

OMIM : 54
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)

MalaCards based summary : Muscular Dystrophy-Dystroglycanopathy , Type a, 5, also known as congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type a5, is related to fkrp-related muscle diseases, and has symptoms including myopia, retinal detachment and hydrocephalus. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type a, 5 is FKRP (Fukutin Related Protein). Affiliated tissues include eye, brain and pons.

UniProtKB/Swiss-Prot : 71 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, 3 Muscular Dystrophy-Dystroglycanopathy , Type B, 3
Muscular Dystrophy-Dystroglycanopathy , Type C, 3 Muscular Dystrophy-Dystroglycanopathy , Type a, 14
Muscular Dystrophy-Dystroglycanopathy , Type C, 14 Muscular Dystrophy-Dystroglycanopathy , Type B, 14
Muscular Dystrophy-Dystroglycanopathy , Type C, 9 Muscular Dystrophy-Dystroglycanopathy , Type a, 9
Muscular Dystrophy-Dystroglycanopathy , Type a, 7 Muscular Dystrophy-Dystroglycanopathy , Type C, 7
Muscular Dystrophy-Dystroglycanopathy , Type a, 12 Muscular Dystrophy-Dystroglycanopathy , Type C, 12
Muscular Dystrophy-Dystroglycanopathy , Type a, 4 Muscular Dystrophy-Dystroglycanopathy , Type B, 4
Muscular Dystrophy-Dystroglycanopathy , Type C, 4 Muscular Dystrophy-Dystroglycanopathy , Type a, 1
Muscular Dystrophy-Dystroglycanopathy , Type B, 1 Muscular Dystrophy-Dystroglycanopathy , Type C, 1
Muscular Dystrophy-Dystroglycanopathy , Type a, 13 Muscular Dystrophy-Dystroglycanopathy , Type a, 10
Muscular Dystrophy-Dystroglycanopathy , Type a, 2 Muscular Dystrophy-Dystroglycanopathy , Type B, 2
Muscular Dystrophy-Dystroglycanopathy , Type C, 2 Muscular Dystrophy-Dystroglycanopathy , Type a, 5
Muscular Dystrophy-Dystroglycanopathy , Type B, 5 Muscular Dystrophy-Dystroglycanopathy , Type C, 5
Muscular Dystrophy-Dystroglycanopathy , Type a, 6 Muscular Dystrophy-Dystroglycanopathy , Type B, 6

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

id Related Disease Score Top Affiliating Genes
1 fkrp-related muscle diseases 11.3

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

Symptoms via clinical synopsis from OMIM:

54

Neurologic- Peripheral Nervous System:
hyporeflexia

Head And Neck- Eyes:
myopia
retinal detachment
microphthalmia
coloboma
cataract
more
Laboratory- Abnormalities:
increased serum creatine kinase

Respiratory:
respiratory insufficiency

Neurologic- Central Nervous System:
white matter abnormalities
hydrocephalus
mental retardation, profound
ventricular dilatation
cerebellar hypoplasia
more
Muscle Soft Tissue:
hypotonia, severe
muscular dystrophy

Cardiovascular- Heart:
left ventricular hypertrophy


Clinical features from OMIM:

613153

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

32 (show all 21)
id Description HPO Frequency HPO Source Accession
1 myopia 32 HP:0000545
2 retinal detachment 32 HP:0000541
3 hydrocephalus 32 HP:0000238
4 microphthalmia 32 HP:0000568
5 coloboma 32 HP:0000589
6 muscular dystrophy 32 HP:0003560
7 cerebellar hypoplasia 32 HP:0001321
8 cerebellar dysplasia 32 HP:0007033
9 pachygyria 32 HP:0001302
10 left ventricular hypertrophy 32 HP:0001712
11 motor delay 32 HP:0001270
12 dandy-walker malformation 32 HP:0001305
13 respiratory insufficiency 32 HP:0002093
14 intellectual disability, profound 32 HP:0002187
15 hypoplasia of the pons 32 HP:0012110
16 corneal opacity 32 HP:0007957
17 hypoplasia of the brainstem 32 HP:0002365
18 elevated serum creatine phosphokinase 32 HP:0003236
19 abnormality of the cerebral white matter 32 HP:0002500
20 severe muscular hypotonia 32 HP:0006829
21 type ii lissencephaly 32 HP:0007260

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

Genetic tests related to Muscular Dystrophy-Dystroglycanopathy , Type a, 5:

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

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

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

39
Eye, Brain, Pons

Publications for Muscular Dystrophy-Dystroglycanopathy , Type a, 5

Variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 5

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

71
id Symbol AA change Variation ID SNP ID
1 FKRP p.Tyr307Asn VAR_022850 rs104894692
2 FKRP p.Cys318Tyr VAR_022852 rs104894684

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 FKRP NM_024301.4(FKRP): c.826C> A (p.Leu276Ile) single nucleotide variant Pathogenic rs28937900 GRCh37 Chromosome 19, 47259533: 47259533
2 FKRP NM_024301.4(FKRP): c.919T> A (p.Tyr307Asn) single nucleotide variant Pathogenic/Likely pathogenic rs104894692 GRCh37 Chromosome 19, 47259626: 47259626
3 FKRP NM_024301.4(FKRP): c.953G> A (p.Cys318Tyr) single nucleotide variant Pathogenic rs104894684 GRCh37 Chromosome 19, 47259660: 47259660
4 FKRP NM_024301.4(FKRP): c.1387A> G (p.Asn463Asp) single nucleotide variant Pathogenic rs121908110 GRCh37 Chromosome 19, 47260094: 47260094
5 FKRP NM_024301.4(FKRP): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs587777223 GRCh38 Chromosome 19, 46755451: 46755451
6 FKRP NM_024301.4(FKRP): c.402_403delGG (p.Ala135Terfs) deletion Likely pathogenic rs886041004 GRCh38 Chromosome 19, 46755852: 46755853

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
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....