MCID: MSC034
MIFTS: 26

Muscular Dystrophy-Dystroglycanopathy , Type a, 5

Categories: Genetic diseases, Neuronal diseases, Muscle diseases, Mental diseases, Eye diseases, Metabolic diseases, Fetal 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 13 73
Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies Type A5 29 6
Mddga5 57 75
Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies A5 75
Walker-Warburg Syndrome or Muscle-Eye-Brain Disease, Fkrp-Related 57
Muscle-Eye-Brain Disease Fkrp-Related 75
Walker-Warburg Syndrome Fkrp-Related 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
death in childhood


HPO:

32
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 : 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)

MalaCards based summary : Muscular Dystrophy-Dystroglycanopathy , Type a, 5, is also known as congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies 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 cataract

UniProtKB/Swiss-Prot : 75 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:

57
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:

32 (show all 23)
# Description HPO Frequency HPO Source Accession
1 hydrocephalus 32 HP:0000238
2 cataract 32 HP:0000518
3 retinal detachment 32 HP:0000541
4 myopia 32 HP:0000545
5 microphthalmia 32 HP:0000568
6 coloboma 32 HP:0000589
7 hyporeflexia 32 HP:0001265
8 motor delay 32 HP:0001270
9 pachygyria 32 HP:0001302
10 dandy-walker malformation 32 HP:0001305
11 cerebellar hypoplasia 32 HP:0001321
12 left ventricular hypertrophy 32 HP:0001712
13 respiratory insufficiency 32 HP:0002093
14 intellectual disability, profound 32 HP:0002187
15 hypoplasia of the brainstem 32 HP:0002365
16 abnormality of the cerebral white matter 32 HP:0002500
17 elevated serum creatine phosphokinase 32 HP:0003236
18 muscular dystrophy 32 HP:0003560
19 severe muscular hypotonia 32 HP:0006829
20 cerebellar dysplasia 32 HP:0007033
21 type ii lissencephaly 32 HP:0007260
22 corneal opacity 32 HP:0007957
23 hypoplasia of the pons 32 HP:0012110

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 29 FKRP

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

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

41
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:

75
# 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
(show all 18)
# 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.1364C> A (p.Ala455Asp) single nucleotide variant Pathogenic rs28937903 GRCh37 Chromosome 19, 47260071: 47260071
3 FKRP NM_024301.4(FKRP): c.1364C> A (p.Ala455Asp) single nucleotide variant Pathogenic rs28937903 GRCh38 Chromosome 19, 46756814: 46756814
4 FKRP NM_024301.4(FKRP): c.826C> A (p.Leu276Ile) single nucleotide variant Pathogenic rs28937900 GRCh38 Chromosome 19, 46756276: 46756276
5 FKRP NM_024301.4(FKRP): c.919T> A (p.Tyr307Asn) single nucleotide variant Likely pathogenic rs104894692 GRCh37 Chromosome 19, 47259626: 47259626
6 FKRP NM_024301.4(FKRP): c.919T> A (p.Tyr307Asn) single nucleotide variant Likely pathogenic rs104894692 GRCh38 Chromosome 19, 46756369: 46756369
7 FKRP NM_024301.4(FKRP): c.953G> A (p.Cys318Tyr) single nucleotide variant Pathogenic rs104894684 GRCh37 Chromosome 19, 47259660: 47259660
8 FKRP NM_024301.4(FKRP): c.953G> A (p.Cys318Tyr) single nucleotide variant Pathogenic rs104894684 GRCh38 Chromosome 19, 46756403: 46756403
9 FKRP NM_024301.4(FKRP): c.1387A> G (p.Asn463Asp) single nucleotide variant Pathogenic rs121908110 GRCh37 Chromosome 19, 47260094: 47260094
10 FKRP NM_024301.4(FKRP): c.1387A> G (p.Asn463Asp) single nucleotide variant Pathogenic rs121908110 GRCh38 Chromosome 19, 46756837: 46756837
11 FKRP NM_024301.4(FKRP): c.941C> T (p.Thr314Met) single nucleotide variant Pathogenic rs398124395 GRCh37 Chromosome 19, 47259648: 47259648
12 FKRP NM_024301.4(FKRP): c.941C> T (p.Thr314Met) single nucleotide variant Pathogenic rs398124395 GRCh38 Chromosome 19, 46756391: 46756391
13 FKRP NM_024301.4(FKRP): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs587777223 GRCh38 Chromosome 19, 46755451: 46755451
14 FKRP NM_024301.4(FKRP): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs587777223 GRCh37 Chromosome 19, 47258708: 47258708
15 FKRP NM_024301.4(FKRP): c.402_403delGG (p.Ala135Terfs) deletion Likely pathogenic rs886041004 GRCh38 Chromosome 19, 46755852: 46755853
16 FKRP NM_024301.4(FKRP): c.402_403delGG (p.Ala135Terfs) deletion Likely pathogenic rs886041004 GRCh37 Chromosome 19, 47259109: 47259110
17 FKRP NM_001039885.2(FKRP): c.128C> G (p.Ser43Cys) single nucleotide variant Uncertain significance GRCh37 Chromosome 19, 47258835: 47258835
18 FKRP NM_001039885.2(FKRP): c.128C> G (p.Ser43Cys) single nucleotide variant Uncertain significance GRCh38 Chromosome 19, 46755578: 46755578

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
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10 dbSNP
11 DGIdb
17 ExPASy
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28 GO
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69 SNOMED-CT via HPO
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74 UMLS via Orphanet
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