MCID: MSC034
MIFTS: 26

Muscular Dystrophy-Dystroglycanopathy , Type a, 5

Categories: Genetic diseases, Muscle diseases, Rare diseases, Fetal diseases, Neuronal diseases, Metabolic diseases, Mental 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 53 13 69
Mddga5 53 71
Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies Type A5 28
Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies A5 71
Walker-Warburg Syndrome or Muscle-Eye-Brain Disease, Fkrp-Related 53
Muscle-Eye-Brain Disease Fkrp-Related 71
Walker-Warburg Syndrome Fkrp-Related 71

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
death in childhood


HPO:

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


Classifications:



Summaries for Muscular Dystrophy-Dystroglycanopathy , Type a, 5

OMIM : 53 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, is also known as mddga5, and has symptoms including hydrocephalus, respiratory insufficiency and cataract. 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, 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 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

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

Symptoms via clinical synopsis from OMIM:

53
Neurologic Central Nervous System:
hydrocephalus
cerebellar hypoplasia
pachygyria
dandy-walker malformation
cerebellar dysplasia
more
Head And Neck Eyes:
cataract
myopia
microphthalmia
retinal detachment
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

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

31 (show all 23)
# 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 elevated serum creatine phosphokinase 31 HP:0003236
6 myopia 31 HP:0000545
7 cerebellar hypoplasia 31 HP:0001321
8 microphthalmia 31 HP:0000568
9 left ventricular hypertrophy 31 HP:0001712
10 retinal detachment 31 HP:0000541
11 intellectual disability, profound 31 HP:0002187
12 hyporeflexia 31 HP:0001265
13 pachygyria 31 HP:0001302
14 dandy-walker malformation 31 HP:0001305
15 motor delay 31 HP:0001270
16 muscular dystrophy 31 HP:0003560
17 cerebellar dysplasia 31 HP:0007033
18 coloboma 31 HP:0000589
19 hypoplasia of the pons 31 HP:0012110
20 abnormality of the cerebral white matter 31 HP:0002500
21 severe muscular hypotonia 31 HP:0006829
22 type ii lissencephaly 31 HP:0007260
23 hypoplasia of the brainstem 31 HP:0002365

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:

# Genetic test Affiliating Genes
1 Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies Type A5 28 FKRP

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

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

38
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
# 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
# Gene Variation Type Significance SNP ID Assembly Location
1 FKRP NM_024301.4(FKRP): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs587777223 GRCh38 Chromosome 19, 46755451: 46755451
2 FKRP NM_024301.4(FKRP): c.826C> A (p.Leu276Ile) single nucleotide variant Pathogenic rs28937900 GRCh37 Chromosome 19, 47259533: 47259533
3 FKRP NM_024301.4(FKRP): c.919T> A (p.Tyr307Asn) single nucleotide variant Pathogenic/Likely pathogenic rs104894692 GRCh37 Chromosome 19, 47259626: 47259626
4 FKRP NM_024301.4(FKRP): c.953G> A (p.Cys318Tyr) single nucleotide variant Pathogenic rs104894684 GRCh37 Chromosome 19, 47259660: 47259660
5 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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