MDDGA4
MCID: MSC037
MIFTS: 48

Muscular Dystrophy-Dystroglycanopathy , Type a, 4 (MDDGA4) malady

Categories: Genetic diseases, Neuronal diseases, Eye diseases, Metabolic diseases, Fetal diseases, Rare diseases, Muscle diseases, Mental diseases

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 52 12
Fukuyama Congenital Muscular Dystrophy 11 23 24 25 54 50 13
Fcmd 23 24 25 54 70
Fukuyama Type Congenital Muscular Dystrophy 23 25 68
Congenital Muscular Dystrophy Fukuyama Type 70 27
Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies A4 70
Muscular Dystrophy, Congenital, with Central Nervous System Involvement 25
Muscular Dystrophy, Congenital Progressive, with Mental Retardation 25
Muscular Dystrophy, Congenital, Fukuyama Type 25
Congenital Muscular Dystrophy, Fukuyama Type 54
 
Cerebromuscular Dystrophy, Fukuyama Type 25
Cerebromuscular Dystrophy Fukuyama Type 70
Polymicrogyria with Muscular Dystrophy 25
Micropolygyria with Muscular Dystrophy 70
Muscle-Eye-Brain Disease Fktn-Related 70
Walker-Warburg Syndrome Fktn-Related 70
Fukuyama Muscular Dystrophy 25
Fukuyama Syndrome 25
Fukuyama Cmd 25
Mddga4 70

Characteristics:

Orphanet epidemiological data:

54
fukuyama congenital muscular dystrophy:
Prevalence: 1-9/100000 (Japan)

HPO:

64
muscular dystrophy-dystroglycanopathy , type a, 4:
Inheritance: autosomal recessive inheritance
Onset and clinical course: infantile onset

Classifications:



External Ids:

OMIM52 253800
Disease Ontology11 DOID:0050559
Orphanet54 ORPHA272
UMLS via Orphanet69 C0410174
ICD10 via Orphanet31 G71.0
MedGen37 C0410174
MeSH39 D058494

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type a, 4

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OMIM:52 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 fukuyama type muscular dystrophy and muscular dystrophy, congenital, merosin-positive, and has symptoms including seizures, seizures and Array. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type a, 4 is FKTN (Fukutin), and among its related pathways are Agrin Interactions at Neuromuscular Junction and ECM-receptor interaction. Affiliated tissues include eye, brain and skeletal muscle, and related mouse phenotypes are behavior/neurological and muscle.

Genetics Home Reference:25 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:70 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 for NBK1206

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 43)
idRelated DiseaseScoreTop Affiliating Genes
1fukuyama type muscular dystrophy11.1
2muscular dystrophy, congenital, merosin-positive11.1
3muscular dystrophy-dystroglycanopathy , type a, 110.8
4muscular dystrophy10.8
5systemic epstein-barr virus-positive t-cell lymphoproliferative disease of childhood10.2FKTN, POMT1
6muscular dystrophy-dystroglycanopathy , type c, 110.2FKTN, POMT1
7deafness, autosomal recessive 18b10.2FKTN, POMT1
8hydroa vacciniforme-like lymphoma10.1POMGNT1, POMT1
9asphyxiating thoracic dystrophy10.1POMGNT1, POMT1
10neuronitis10.1
11angiodysplasia10.1FKTN, POMGNT1
12coronary artery disease10.0FKTN, POMGNT1, POMT1
13cubitus valgus with mental retardation and unusual facies10.0DMD, LAMA2
14thrombocytopenia, x-linked10.0DMD, LAMA2
15pancreatic agenesis 110.0DAG1, DMD
16muscular dystrophy, rigid spine, 110.0DMD, LAMA2
17sdhc-related paraganglioma and gastric stromal sarcoma10.0DAG1, DMD
18ullrich congenital muscular dystrophy 110.0DMD, LAMA2
19leigh syndrome10.0
20microcephaly10.0
21polymicrogyria10.0
22charcot-marie-tooth disease, type 2b210.0LAMA2, POMGNT2
23autosomal recessive limb-girdle muscular dystrophy type 2h9.9DMD, POMT1
24cardiomyopathy, familial restrictive, 39.9DAG1, DMD, LAMA2
25lipodystrophy, familial partial, 29.9DAG1, DMD, LAMA2
26microcephaly and chorioretinopathy 19.9DMD, ITGA7
27immunodeficiency 34, mycobacteriosis, x-linked9.8DAG1, DMD, ITGA7
28microcephaly and chorioretinopathy 29.8DMD, ITGA7
29autosomal recessive nonsyndromic deafness 479.8DAG1, DMD, FKTN, LAMA2
30cardiomyopathy, dilated, 1aa, with or without lvnc9.8DAG1, DMD, FKTN, LAMA2
31sudden infant death with dysgenesis of the testes syndrome9.8DAG1, DMD, FKTN, LAMA2
32cerebral angioma9.8DAG1, DMD, FKTN, LAMA2
33cdkl5-related angelman-like syndrome9.7DAG1, DMD, FKTN, LAMA2
34emery-dreifuss muscular dystrophy, dominant type9.7DAG1, DMD, FKTN, LAMA2
35gabrg2-related generalized epilepsy with febrile seizures plus9.6FKTN, LAMA2, POMGNT1, POMGNT2, POMT1
36dermatofibrosarcoma protuberans9.4DAG1, DMD, FKTN, LAMA2, POMGNT1, POMT1
37central corneal ulcer9.4DAG1, DMD, FKTN, LAMA2, POMGNT1, POMT1
38cone-rod dystrophy, prph2-related9.3DAG1, DMD, FKTN, POMGNT1, POMGNT2, POMT1
39glycogen storage disease 0, muscle9.1DAG1, DMD, FKTN, LAMA2, POMGNT1, POMGNT2
40myasthenia gravis, limb-girdle9.1DAG1, DMD, FKTN, LAMA2, POMGNT1, POMGNT2
41autosomal dominant nonsyndromic deafness9.1DAG1, DMD, FKTN, LAMA2, POMGNT1, POMGNT2
42muscular dystrophy, limb-girdle, type 1b8.9DAG1, DMD, FKTN, ITGA7, LAMA2, POMGNT1
43cardiomyopathy, dilated, 1x8.9DAG1, DMD, FKTN, ITGA7, LAMA2, 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 & Phenotypes for Muscular Dystrophy-Dystroglycanopathy , Type a, 4

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Symptoms by clinical synopsis from OMIM:

253800

Clinical features from OMIM:

253800

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

 54 64 (show all 59)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hydrocephalus64 54 Frequent (79-30%) HP:0000238
2 brachycephaly64 54 Frequent (79-30%) HP:0000248
3 dolichocephaly64 54 Occasional (29-5%) HP:0000268
4 mask-like facies64 54 Very frequent (99-80%) HP:0000298
5 glaucoma64 54 Occasional (29-5%) HP:0000501
6 visual impairment64 54 Occasional (29-5%) HP:0000505
7 cataract64 54 Occasional (29-5%) HP:0000518
8 myopia64 54 Frequent (79-30%) HP:0000545
9 optic atrophy64 54 Occasional (29-5%) HP:0000648
10 delayed speech and language development64 54 Very frequent (99-80%) HP:0000750
11 pectus excavatum64 54 Frequent (79-30%) HP:0000767
12 seizures64 54 Frequent (79-30%) HP:0001250
13 muscular hypotonia64 54 Very frequent (99-80%) HP:0001252
14 global developmental delay64 54 Very frequent (99-80%) HP:0001263
15 gait disturbance64 54 Very frequent (99-80%) HP:0001288
16 plagiocephaly64 54 Very frequent (99-80%) HP:0001357
17 flexion contracture64 54 Very frequent (99-80%) HP:0001371
18 intrauterine growth retardation64 54 Occasional (29-5%) HP:0001511
19 weak cry64 54 Frequent (79-30%) HP:0001612
20 dilated cardiomyopathy64 54 Occasional (29-5%) HP:0001644
21 ventriculomegaly64 54 Frequent (79-30%) HP:0002119
22 eeg abnormality64 54 Frequent (79-30%) HP:0002353
23 myopathy64 54 Very frequent (99-80%) HP:0003198
24 emg abnormality64 54 Very frequent (99-80%) HP:0003457
25 muscular dystrophy64 54 Very frequent (99-80%) HP:0003560
26 type ii lissencephaly64 54 Very frequent (99-80%) HP:0007260
27 aplasia/hypoplasia of the corpus callosum64 54 Occasional (29-5%) HP:0007370
28 retinal dysplasia64 54 Occasional (29-5%) HP:0007973
29 intellectual disability, severe64 54 Very frequent (99-80%) HP:0010864
30 hypoglycosylation of alpha-dystroglycan64 54 Very frequent (99-80%) HP:0030046
31 camptodactyly of finger64 54 Frequent (79-30%) HP:0100490
32 strabismus64 HP:0000486
33 hypermetropia64 HP:0000540
34 retinal detachment64 HP:0000541
35 microphthalmia64 HP:0000568
36 intellectual disability64 HP:0001249
37 agenesis of corpus callosum64 HP:0001274
38 areflexia64 HP:0001284
39 pachygyria64 HP:0001302
40 cerebellar hypoplasia64 HP:0001321
41 muscle weakness64 HP:0001324
42 holoprosencephaly64 HP:0001360
43 atrial septal defect64 HP:0001631
44 pulmonic stenosis64 HP:0001642
45 transposition of the great arteries64 HP:0001669
46 myocardial fibrosis64 HP:0001685
47 encephalocele64 HP:0002084
48 respiratory insufficiency64 HP:0002093
49 polymicrogyria64 HP:0002126
50 exaggerated startle response64 HP:0002267
51 cerebellar cyst64 HP:0002350
52 hypoplasia of the brainstem64 HP:0002365
53 scoliosis64 HP:0002650
54 skeletal muscle atrophy64 HP:0003202
55 elevated serum creatine phosphokinase64 HP:0003236
56 spinal rigidity64 HP:0003306
57 congenital muscular dystrophy64 HP:0003741
58 hypoplasia of the pyramidal tract64 HP:0007348
59 calf muscle hypertrophy64 HP:0008981

UMLS symptoms related to Muscular Dystrophy-Dystroglycanopathy , Type a, 4:


seizures

MGI Mouse Phenotypes related to Muscular Dystrophy-Dystroglycanopathy , Type a, 4 according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053868.5DAG1, DMD, FKTN, ITGA7, LAMA2, POMGNT1
2MP:00053698.0DAG1, DMD, FKTN, ITGA7, LAMA2, POMGNT1
3MP:00053847.7DAG1, DMD, FKTN, ITGA7, LAMA2, POMGNT1
4MP:00053787.7DAG1, DMD, FKTN, ITGA7, LAMA2, POMGNT1
5MP:00053767.7DAG1, DMD, FKTN, ITGA7, LAMA2, POMGNT1
6MP:00107687.2DAG1, DMD, FKTN, ITGA7, LAMA2, POMGNT1
7MP:00036316.9DAG1, DMD, FKTN, ITGA7, LAMA2, POMGNT1

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 Dystrophy27 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:

36
Eye, Brain, Skeletal muscle

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:

70
id Symbol AA change Variation ID SNP ID
1FKTNp.Cys250GlyVAR_018278
2FKTNp.Ala170GluVAR_065051rs119464997
3FKTNp.Tyr371CysVAR_065054rs119464998

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

5 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1FKTNNM_ 001079802.1(FKTN): c.*4375_ *4376ins3062insertionPathogenicGRCh37Chr 9, 108401920: 108401921
2FKTNNM_ 001079802.1(FKTN): c.330dupT (p.Thr111Tyrfs)duplicationPathogenic/ Likely pathogenicrs886042245GRCh37Chr 9, 108363590: 108363590
3FKTNNM_ 001079802.1(FKTN): c.456_ 457delAC (p.Ser154Trpfs)deletionPathogenicrs886042664GRCh37Chr 9, 108366582: 108366583
4FKTNNM_ 001079802.1(FKTN): c.1167dupA (p.Phe390Ilefs)duplicationPathogenicrs398123555GRCh38Chr 9, 105620056: 105620056
5FKTNNM_ 001079802.1(FKTN): c.919C> T (p.Arg307Ter)SNVPathogenic/ Likely pathogenicrs267606814GRCh37Chr 9, 108380248: 108380248
6FKTNNM_ 001079802.1(FKTN): c.429delA (p.Asp144Ilefs)deletionLikely pathogenicrs1057516258GRCh38Chr 9, 105604274: 105604274
7FKTNNM_ 001079802.1(FKTN): c.780+1G> ASNVLikely pathogenicrs370819786GRCh37Chr 9, 108370233: 108370233
8FKTNNM_ 001079802.1(FKTN): c.109G> T (p.Gly37Ter)SNVLikely pathogenicrs773884973GRCh38Chr 9, 105596601: 105596601
9FKTNNM_ 001079802.1(FKTN): c.770delC (p.Ala257Aspfs)deletionLikely pathogenicrs1057516966GRCh37Chr 9, 108370222: 108370222
10FKTNNM_ 001079802.1(FKTN): c.1106delT (p.Phe369Serfs)deletionLikely pathogenicrs1057516999GRCh37Chr 9, 108382276: 108382276
11FKTNNM_ 001079802.1(FKTN): c.658_ 661delCAGC (p.Gln220Lysfs)deletionLikely pathogenicrs1057517160GRCh38Chr 9, 105607829: 105607832
12FKTNNM_ 001079802.1(FKTN): c.642dupT (p.Asp215Terfs)duplicationPathogenic/ Likely pathogenicrs398123557GRCh37Chr 9, 108366768: 108366768

Copy number variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 4 from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
12451099101600000113900000Copy numberFCMDFukuyama congenital muscular dystrophy

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
1costamereGO:00430349.9DAG1, DMD
2dystrophin-associated glycoprotein complexGO:00160109.9DAG1, DMD
3filopodiumGO:00301759.8DAG1, DMD
4sarcolemmaGO:00423838.9DAG1, DMD, LAMA2

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1Schwann cell differentiationGO:00140379.9DAG1, LAMA2
2response to denervation involved in regulation of muscle adaptationGO:00148949.7DAG1, DMD
3skeletal muscle tissue regenerationGO:00434039.3DAG1, DMD
4protein O-linked mannosylationGO:00352699.3FKTN, POMGNT2, POMT1
5extracellular matrix organizationGO:00301989.2DAG1, ITGA7, LAMA2, POMT1
6muscle organ developmentGO:00075179.2DMD, FKTN, ITGA7, LAMA2
7protein glycosylationGO:00064869.0FKTN, POMGNT1, POMGNT2, POMT1
8protein O-linked glycosylationGO:00064938.8DAG1, POMGNT1, POMGNT2, POMT1

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

idNameGO IDScoreTop Affiliating Genes
1dystroglycan bindingGO:00021629.9DAG1, DMD
2structural constituent of muscleGO:00083079.9DAG1, DMD
3acetylglucosaminyltransferase activityGO:00083759.9POMGNT1, POMGNT2
4vinculin bindingGO:00171669.3DAG1, DMD
5transferase activity, transferring glycosyl groupsGO:00167579.1POMGNT1, POMGNT2, POMT1

Sources for Muscular Dystrophy-Dystroglycanopathy , Type a, 4

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet