MCID: MSC037
MIFTS: 46

Muscular Dystrophy-Dystroglycanopathy , Type a, 4 malady

Genetic diseases, Neuronal diseases, Eye diseases, Metabolic diseases, Fetal diseases, Rare diseases, Muscle diseases, Mental diseases categories

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

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

Name: Muscular Dystrophy-Dystroglycanopathy , Type a, 4 49 11
Fukuyama Congenital Muscular Dystrophy 10 21 23 47 12 51
Fcmd 21 22 23 51 67
Fukuyama Type Congenital Muscular Dystrophy 21 23 65
Muscular Dystrophy, Congenital, Fukuyama Type 22 23
Congenital Muscular Dystrophy, Fukuyama Type 51 24
Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies A4 67
Muscular Dystrophy, Congenital, with Central Nervous System Involvement 23
Muscular Dystrophy, Congenital Progressive, with Mental Retardation 23
Congenital Muscular Dystrophy Fukuyama Type 67
 
Cerebromuscular Dystrophy, Fukuyama Type 23
Cerebromuscular Dystrophy Fukuyama Type 67
Micropolygyria with Muscular Dystrophy 67
Polymicrogyria with Muscular Dystrophy 23
Muscle-Eye-Brain Disease Fktn-Related 67
Walker-Warburg Syndrome Fktn-Related 67
Fukuyama Muscular Dystrophy 23
Fukuyama Syndrome 23
Fukuyama Cmd 23
Mddga4 67


Classifications:



Characteristics (Orphanet epidemiological data):

51
fukuyama congenital muscular dystrophy:
Prevalence: 1-9/100000 (Japan)


External Ids:

OMIM49 253800
Disease Ontology10 DOID:0050559
Orphanet51 272
UMLS via Orphanet66 C0410174
MedGen34 C0410174
MeSH36 D058494

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type a, 4

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OMIM:49 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 walker-warburg syndrome, 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), and among its related pathways are Muscular Dystrophies and Dystrophin-Glycoprotein Complex and Other types of O-glycan biosynthesis. Affiliated tissues include eye, brain and skeletal muscle, and related mouse phenotypes are other and hearing/vestibular/ear.

Genetics Home Reference:23 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.

UniProtKB/Swiss-Prot:67 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A4: 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.

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, 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 35)
idRelated DiseaseScoreTop Affiliating Genes
1muscular dystrophy31.5DMD, FKTN, POMT1
2walker-warburg syndrome10.8
3cerebritis10.8
4neuronitis10.5
5lissencephaly10.4
6tauopathy10.4
7hyperekplexia10.4
8fukuyama type muscular dystrophy10.4
9muscle eye brain disease10.4
10seizure disorder10.4
11leigh syndrome10.4
12microcephaly10.4
13polymicrogyria10.4
14muscular dystrophy, congenital, merosin-positive10.3
15muscular dystrophy-dystroglycanopathy , type a, 110.1
16autism spectrum disorder-epilepsy-arthrogryposis syndrome10.1FKTN, POMT1
17congenital muscular dystrophy without intellectual disability10.1POMGNT1, POMT1
18cerebral-cerebellar-coloboma syndrome, x-linked10.0DMD, LAMA2
19salt-and-pepper syndrome10.0LARGE, POMT1
20limb-girdle muscular dystrophy10.0DMD, LAMA2
21septate vagina9.9DMD, FKTN
22immunodeficiency 34, mycobacteriosis, x-linked9.9DMD, FKTN, LAMA2
23congenital structural myopathy9.9FKTN, POMGNT1, POMT1
24physical urticaria9.9FKTN, POMGNT1, POMT1
25congenital fibrosis of the extraocular muscles9.8DMD, ITGA7
26drug-induced hepatitis9.8DMD, FKTN, LAMA2
27fktn-related muscle diseases9.8FKTN, LAMA2, POMGNT1, POMT1
28becker muscular dystrophy9.7DMD, ITGA7, LAMA2
29cardiomyopathy with or without skeletal myopathy9.7DMD, FKTN, LAMA2
30col12a1-related muscle diseases9.5DMD, FKTN, LARGE, POMGNT1, POMT1
31muscular atrophy ataxia retinitis pigmentosa and diabetes mellitus9.3DMD, FKTN, LAMA2, LARGE, POMGNT1, POMT1
32lennox-gastaut syndrome9.3DMD, FKTN, LAMA2, LARGE, POMGNT1, POMT1
33myeloid leukemia9.3DMD, FKTN, LAMA2, LARGE, POMGNT1, POMT1
34muscular dystrophy, congenital9.0DMD, FKTN, ITGA7, LAMA2, LARGE, POMGNT1
35muscular dystrophy-dystroglycanopathy , type a, 49.0DMD, FKTN, ITGA7, LAMA2, LARGE, POMGNT1

Graphical network of the top 20 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 atria septal defect 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 skeletal muscle atrophy 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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Interventional clinical trials:

Search ClinicalTrials, 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 Dystrophy22 24 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:

33
Eye, Brain, Skeletal muscle

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

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MGI Mouse Phenotypes related to Muscular Dystrophy-Dystroglycanopathy , Type a, 4:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053959.5FKTN, LAMA2, POMGNT1
2MP:00053779.3DMD, LAMA2, LARGE
3MP:00053908.5DMD, ITGA7, LAMA2, LARGE
4MP:00053857.8DMD, ITGA7, LARGE, POMGNT1, POMT1
5MP:00053787.4DMD, FKTN, ITGA7, LAMA2, LARGE, POMGNT1
6MP:00053767.3DMD, FKTN, ITGA7, LAMA2, LARGE, POMGNT1
7MP:00053867.2DMD, FKTN, ITGA7, LAMA2, LARGE, POMGNT1
8MP:00053697.0DMD, FKTN, ITGA7, LAMA2, LARGE, POMGNT1
9MP:00036317.0DMD, FKTN, ITGA7, LAMA2, LARGE, POMGNT1
10MP:00107686.9DMD, FKTN, ITGA7, LAMA2, LARGE, POMGNT1

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:

67
id Symbol AA change Variation ID SNP ID
1FKTNp.Cys250GlyVAR_018278
2FKTNp.Ala170GluVAR_065051
3FKTNp.Tyr371CysVAR_065054

Clinvar genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 4:

5
id Gene Variation Type Significance SNP ID Assembly Location
1FKTNNM_001079802.1(FKTN): c.*4375_*4376ins3062insertionPathogenicGRCh37Chr 9, 108401920: 108401921
2FKTNNM_001079802.1(FKTN): c.919C> T (p.Arg307Ter)single nucleotide variantLikely pathogenic, Pathogenicrs267606814GRCh37Chr 9, 108380248: 108380248
3FKTNNM_001079802.1(FKTN): c.642dupT (p.Asp215Terfs)duplicationLikely pathogenic, Pathogenicrs398123557GRCh37Chr 9, 108366768: 108366768

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

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Cellular components related to Muscular Dystrophy-Dystroglycanopathy , Type a, 4 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1sarcolemmaGO:00423838.7DMD, ITGA7, LAMA2

Biological processes related to Muscular Dystrophy-Dystroglycanopathy , Type a, 4 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1protein O-linked glycosylationGO:00064939.9POMGNT1, POMT1
2protein glycosylationGO:00064869.6LARGE, POMGNT1
3protein O-linked mannosylationGO:00352699.5FKTN, LARGE, POMT1
4muscle cell cellular homeostasisGO:00467169.3DMD, LARGE
5muscle organ developmentGO:00075178.2DMD, FKTN, ITGA7, LAMA2
6extracellular matrix organizationGO:00301987.9DMD, ITGA7, LAMA2, POMT1

Molecular functions related to Muscular Dystrophy-Dystroglycanopathy , Type a, 4 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1transferase activityGO:00167409.5FKTN, LARGE
2acetylglucosaminyltransferase activityGO:00083759.4LARGE, POMGNT1

Sources for Muscular Dystrophy-Dystroglycanopathy , Type a, 4

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet