MCID: MSC037
MIFTS: 30

Muscular Dystrophy-Dystroglycanopathy , Type a, 4 malady

Genetic diseases (common), Neuronal diseases, Muscle diseases, Mental diseases categories

Aliases & Classifications for Muscular Dystrophy-Dystroglycanopathy , Type a, 4

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Muscular Dystrophy-Dystroglycanopathy , Type a, 4, Aliases & Descriptions:

Name: Muscular Dystrophy-Dystroglycanopathy , Type a, 4 45 10
Fukuyama Congenital Muscular Dystrophy 9 19 21 11 43
Muscular Dystrophy, Congenital, Fukuyama Type 20 21 22
Fukuyama Type Congenital Muscular Dystrophy 19 21 60
Fcmd 19 21
Muscular Dystrophy, Congenital, with Central Nervous System Involvement 21
 
Muscular Dystrophy, Congenital Progressive, with Mental Retardation 21
Cerebromuscular Dystrophy, Fukuyama Type 21
Polymicrogyria with Muscular Dystrophy 21
Fukuyama Muscular Dystrophy 21
Fukuyama Syndrome 21
Fukuyama Cmd 21


Classifications:



External Ids:

OMIM45 253800
Disease Ontology9 DOID:0050559

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type a, 4

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OMIM:45 MDDGA4 is a severe autosomal recessive muscular dystrophy-dystroglycanopathy with characteristic brain and... (253800) more...

MalaCards based summary: Muscular Dystrophy-Dystroglycanopathy , Type a, 4, also known as fukuyama congenital muscular dystrophy, is related to muscular dystrophy and cerebritis, and has symptoms including holoprosencephaly, exaggerated startle response and retinal dysplasia. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type a, 4 is FKTN (fukutin). Affiliated tissues include eye and brain.

Genetics Home Reference:21 Fukuyama congenital muscular dystrophy is an inherited condition that predominantly affects the muscles, brain, and eyes. Congenital muscular dystrophies are a group of genetic conditions that cause muscle weakness and wasting (atrophy) beginning very early in life.

GeneReviews summary for fcmd

Related Diseases for Muscular Dystrophy-Dystroglycanopathy , Type a, 4

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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, 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, 4 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)
idRelated DiseaseScoreTop Affiliating Genes
1muscular dystrophy11.1
2cerebritis10.7
3walker-warburg syndrome10.7
4neuronitis10.5
5fukuyama type muscular dystrophy10.5
6lissencephaly10.4
7brain disease10.4
8tauopathy10.4
9hyperekplexia10.4
10muscle eye brain disease10.4
11seizure disorder10.4
12microcephaly10.3
13polymicrogyria10.3
14mental retardation10.2

Graphical network of diseases related to Muscular Dystrophy-Dystroglycanopathy , Type a, 4:



Diseases related to muscular dystrophy-dystroglycanopathy  , type a, 4

Symptoms for Muscular Dystrophy-Dystroglycanopathy , Type a, 4

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Symptoms by clinical synopsis from OMIM:

253800

Clinical features from OMIM:

253800

HPO human phenotypes related to Muscular Dystrophy-Dystroglycanopathy , Type a, 4:

(show all 39)
id Description Frequency HPO Source Accession
1 holoprosencephaly rare (5%) HP:0001360
2 exaggerated startle response rare (5%) HP:0002267
3 retinal dysplasia rare (5%) HP:0007973
4 autosomal recessive inheritance HP:0000007
5 hydrocephalus HP:0000238
6 strabismus HP:0000486
7 cataract HP:0000518
8 hypermetropia HP:0000540
9 retinal detachment HP:0000541
10 myopia HP:0000545
11 microphthalmos HP:0000568
12 optic atrophy HP:0000648
13 intellectual disability HP:0001249
14 seizures HP:0001250
15 muscular hypotonia HP:0001252
16 agenesis of corpus callosum HP:0001274
17 areflexia HP:0001284
18 pachygyria HP:0001302
19 cerebellar hypoplasia HP:0001321
20 muscle weakness HP:0001324
21 flexion contracture HP:0001371
22 defect in the atrial septum HP:0001631
23 pulmonic stenosis HP:0001642
24 transposition of the great arteries HP:0001669
25 myocardial fibrosis HP:0001685
26 encephalocele HP:0002084
27 respiratory insufficiency HP:0002093
28 polymicrogyria HP:0002126
29 cerebellar cyst HP:0002350
30 hypoplasia of the brainstem HP:0002365
31 scoliosis HP:0002650
32 amyotrophy HP:0003202
33 elevated serum creatine phosphokinase HP:0003236
34 spinal rigidity HP:0003306
35 infantile onset HP:0003593
36 congenital muscular dystrophy HP:0003741
37 type ii lissencephaly HP:0007260
38 hypoplasia of the pyramidal tract HP:0007348
39 calf muscle hypertrophy HP:0008981

Drugs & Therapeutics for Muscular Dystrophy-Dystroglycanopathy , Type a, 4

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Drug clinical trials:

Search ClinicalTrials for Muscular Dystrophy-Dystroglycanopathy , Type a, 4

Search NIH Clinical Center for Muscular Dystrophy-Dystroglycanopathy , Type a, 4

Genetic Tests for Muscular Dystrophy-Dystroglycanopathy , Type a, 4

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Genetic tests related to Muscular Dystrophy-Dystroglycanopathy , Type a, 4:

id Genetic test Affiliating Genes
1 Fukuyama Congenital Muscular Dystrophy20 22 FKTN

Anatomical Context for Muscular Dystrophy-Dystroglycanopathy , Type a, 4

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MalaCards organs/tissues related to Muscular Dystrophy-Dystroglycanopathy , Type a, 4:

31
Eye, Brain

Animal Models for Muscular Dystrophy-Dystroglycanopathy , Type a, 4 or affiliated genes

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Publications for Muscular Dystrophy-Dystroglycanopathy , Type a, 4

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Variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 4

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UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 4:

62
id Symbol AA change Variation ID SNP ID
1FKTNp.Cys250GlyVAR_018278
2FKTNp.Ala170GluVAR_065051
3FKTNp.Tyr371CysVAR_065054

Expression for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type a, 4

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Search GEO for disease gene expression data for Muscular Dystrophy-Dystroglycanopathy , Type a, 4.

Pathways for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type a, 4

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Compounds for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type a, 4

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GO Terms for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type a, 4

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Products for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type a, 4

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Sources for Muscular Dystrophy-Dystroglycanopathy , Type a, 4

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet