MDDGA5
MCID: MSC034
MIFTS: 27

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

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

Aliases & Descriptions for Muscular Dystrophy-Dystroglycanopathy , Type a, 5:

Name: Muscular Dystrophy-Dystroglycanopathy , Type a, 5 54 13 69
Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies A5 66 29
Muscle-Eye-Brain Disease Fkrp-Related 66
Walker-Warburg Syndrome Fkrp-Related 66
Mddga5 66

Characteristics:

HPO:

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


Classifications:



External Ids:

OMIM 54 613153
MedGen 40 C3150413
MeSH 42 D058494

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... (613153) more...

MalaCards based summary : Muscular Dystrophy-Dystroglycanopathy , Type a, 5, also known as muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies a5, is related to fkrp-related muscle diseases and muscular dystrophy-dystroglycanopathy , type a, 1, and has symptoms including hydrocephalus, respiratory insufficiency and corneal opacity. 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 : 66 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
2 muscular dystrophy-dystroglycanopathy , type a, 1 10.9

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

Symptoms by clinical synopsis from OMIM:

613153

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

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:

66
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 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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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