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

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

Name: Muscular Dystrophy-Dystroglycanopathy , Type a, 4 54 13
Fukuyama Congenital Muscular Dystrophy 12 23 24 25 56 52 14
Fcmd 23 24 25 56 66
Fukuyama Type Congenital Muscular Dystrophy 23 25 69
Congenital Muscular Dystrophy Fukuyama Type 66 29
Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies A4 66
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 56
Cerebromuscular Dystrophy, Fukuyama Type 25
Cerebromuscular Dystrophy Fukuyama Type 66
Polymicrogyria with Muscular Dystrophy 25
Micropolygyria with Muscular Dystrophy 66
Muscle-Eye-Brain Disease Fktn-Related 66
Walker-Warburg Syndrome Fktn-Related 66
Fukuyama Muscular Dystrophy 25
Fukuyama Syndrome 25
Fukuyama Cmd 25
Mddga4 66

Characteristics:

Orphanet epidemiological data:

56
congenital muscular dystrophy, fukuyama type
Prevalence: 1-9/100000 (Japan);

HPO:

32
muscular dystrophy-dystroglycanopathy , type a, 4:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

OMIM 54 253800
Disease Ontology 12 DOID:0050559
Orphanet 56 ORPHA272
UMLS via Orphanet 70 C0410174
ICD10 via Orphanet 34 G71.0
MedGen 40 C0410174
MeSH 42 D058494

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type a, 4

OMIM : 54 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, pectus excavatum and hydrocephalus. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type a, 4 is FKTN (Fukutin), and among its related pathways/superpathways are Degradation of the extracellular matrix and Arrhythmogenic right ventricular cardiomyopathy (ARVC). Affiliated tissues include eye, brain and skeletal muscle, and related phenotypes are cellular and behavior/neurological

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 : 66 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: NBK1206

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

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)
id Related Disease Score Top Affiliating Genes
1 fukuyama type muscular dystrophy 11.1
2 muscular dystrophy, congenital, merosin-positive 11.1
3 muscular dystrophy-dystroglycanopathy , type a, 1 10.8
4 muscular dystrophy 10.8
5 systemic epstein-barr virus-positive t-cell lymphoproliferative disease of childhood 10.2 FKTN POMT1
6 muscular dystrophy-dystroglycanopathy , type c, 1 10.2 FKTN POMT1
7 deafness, autosomal recessive 18b 10.2 FKTN POMT1
8 hydroa vacciniforme-like lymphoma 10.1 POMGNT1 POMT1
9 asphyxiating thoracic dystrophy 10.1 POMGNT1 POMT1
10 neuronitis 10.1
11 angiodysplasia 10.1 FKTN POMGNT1
12 coronary artery disease 10.0 FKTN POMGNT1 POMT1
13 cubitus valgus with mental retardation and unusual facies 10.0 DMD LAMA2
14 thrombocytopenia, x-linked 10.0 DMD LAMA2
15 pancreatic agenesis 1 10.0 DAG1 DMD
16 muscular dystrophy, rigid spine, 1 10.0 DMD LAMA2
17 sdhc-related paraganglioma and gastric stromal sarcoma 10.0 DAG1 DMD
18 ullrich congenital muscular dystrophy 1 10.0 DMD LAMA2
19 leigh syndrome 10.0
20 microcephaly 10.0
21 polymicrogyria 10.0
22 charcot-marie-tooth disease, type 2b2 10.0 LAMA2 POMGNT2
23 autosomal recessive limb-girdle muscular dystrophy type 2h 9.9 DMD POMT1
24 cardiomyopathy, familial restrictive, 3 9.9 DAG1 DMD LAMA2
25 lipodystrophy, familial partial, 2 9.9 DAG1 DMD LAMA2
26 microcephaly and chorioretinopathy 1 9.9 DMD ITGA7
27 immunodeficiency 34, mycobacteriosis, x-linked 9.8 DAG1 DMD ITGA7
28 microcephaly and chorioretinopathy 2 9.8 DMD ITGA7
29 autosomal recessive nonsyndromic deafness 47 9.8 DAG1 DMD FKTN LAMA2
30 cardiomyopathy, dilated, 1aa, with or without lvnc 9.8 DAG1 DMD FKTN LAMA2
31 sudden infant death with dysgenesis of the testes syndrome 9.8 DAG1 DMD FKTN LAMA2
32 cerebral angioma 9.8 DAG1 DMD FKTN LAMA2
33 cdkl5-related angelman-like syndrome 9.7 DAG1 DMD FKTN LAMA2
34 emery-dreifuss muscular dystrophy, dominant type 9.7 DAG1 DMD FKTN LAMA2
35 gabrg2-related generalized epilepsy with febrile seizures plus 9.6 FKTN LAMA2 POMGNT1 POMGNT2 POMT1
36 dermatofibrosarcoma protuberans 9.4 DAG1 DMD FKTN LAMA2 POMGNT1 POMT1
37 central corneal ulcer 9.4 DAG1 DMD FKTN LAMA2 POMGNT1 POMT1
38 cone-rod dystrophy, prph2-related 9.3 DAG1 DMD FKTN POMGNT1 POMGNT2 POMT1
39 glycogen storage disease 0, muscle 9.1 DAG1 DMD FKTN LAMA2 POMGNT1 POMGNT2
40 myasthenia gravis, limb-girdle 9.1 DAG1 DMD FKTN LAMA2 POMGNT1 POMGNT2
41 autosomal dominant nonsyndromic deafness 9.1 DAG1 DMD FKTN LAMA2 POMGNT1 POMGNT2
42 muscular dystrophy, limb-girdle, type 1b 8.9 DAG1 DMD FKTN ITGA7 LAMA2 POMGNT1
43 cardiomyopathy, dilated, 1x 8.9 DAG1 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

Symptoms by clinical synopsis from OMIM:

253800

Clinical features from OMIM:

253800

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

56 32 (show top 50) (show all 59)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 56 32 Frequent (79-30%) HP:0001250
2 pectus excavatum 56 32 Frequent (79-30%) HP:0000767
3 hydrocephalus 56 32 Frequent (79-30%) HP:0000238
4 muscular hypotonia 56 32 Very frequent (99-80%) HP:0001252
5 gait disturbance 56 32 Very frequent (99-80%) HP:0001288
6 eeg abnormality 56 32 Frequent (79-30%) HP:0002353
7 cataract 56 32 Occasional (29-5%) HP:0000518
8 global developmental delay 56 32 Very frequent (99-80%) HP:0001263
9 delayed speech and language development 56 32 Very frequent (99-80%) HP:0000750
10 visual impairment 56 32 Occasional (29-5%) HP:0000505
11 optic atrophy 56 32 Occasional (29-5%) HP:0000648
12 flexion contracture 56 32 Very frequent (99-80%) HP:0001371
13 myopathy 56 32 Very frequent (99-80%) HP:0003198
14 brachycephaly 56 32 Frequent (79-30%) HP:0000248
15 intellectual disability, severe 56 32 Very frequent (99-80%) HP:0010864
16 emg abnormality 56 32 Very frequent (99-80%) HP:0003457
17 dolichocephaly 56 32 Occasional (29-5%) HP:0000268
18 mask-like facies 56 32 Very frequent (99-80%) HP:0000298
19 ventriculomegaly 56 32 Frequent (79-30%) HP:0002119
20 myopia 56 32 Frequent (79-30%) HP:0000545
21 intrauterine growth retardation 56 32 Occasional (29-5%) HP:0001511
22 glaucoma 56 32 Occasional (29-5%) HP:0000501
23 retinal dysplasia 56 32 Occasional (29-5%) HP:0007973
24 camptodactyly of finger 56 32 Frequent (79-30%) HP:0100490
25 plagiocephaly 56 32 Very frequent (99-80%) HP:0001357
26 aplasia/hypoplasia of the corpus callosum 56 32 Occasional (29-5%) HP:0007370
27 weak cry 56 32 Frequent (79-30%) HP:0001612
28 muscular dystrophy 56 32 Very frequent (99-80%) HP:0003560
29 dilated cardiomyopathy 56 32 Occasional (29-5%) HP:0001644
30 type ii lissencephaly 56 32 Very frequent (99-80%) HP:0007260
31 hypoglycosylation of alpha-dystroglycan 56 32 Very frequent (99-80%) HP:0030046
32 muscle weakness 32 HP:0001324
33 agenesis of corpus callosum 32 HP:0001274
34 intellectual disability 32 HP:0001249
35 respiratory insufficiency 32 HP:0002093
36 scoliosis 32 HP:0002650
37 elevated serum creatine phosphokinase 32 HP:0003236
38 skeletal muscle atrophy 32 HP:0003202
39 strabismus 32 HP:0000486
40 cerebellar hypoplasia 32 HP:0001321
41 microphthalmia 32 HP:0000568
42 retinal detachment 32 HP:0000541
43 areflexia 32 HP:0001284
44 pulmonic stenosis 32 HP:0001642
45 holoprosencephaly 32 HP:0001360
46 spinal rigidity 32 HP:0003306
47 pachygyria 32 HP:0001302
48 polymicrogyria 32 HP:0002126
49 encephalocele 32 HP:0002084
50 congenital muscular dystrophy 32 HP:0003741

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


seizures

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

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.91 DAG1 DMD FKTN ITGA7 LAMA2 POMGNT1
2 behavior/neurological MP:0005386 9.88 DAG1 DMD FKTN ITGA7 LAMA2 POMGNT1
3 growth/size/body region MP:0005378 9.87 DAG1 DMD FKTN ITGA7 LAMA2 POMGNT1
4 homeostasis/metabolism MP:0005376 9.8 FKTN ITGA7 LAMA2 POMGNT1 POMGNT2 DAG1
5 mortality/aging MP:0010768 9.76 FKTN ITGA7 LAMA2 POMGNT1 POMGNT2 POMT1
6 muscle MP:0005369 9.5 DAG1 DMD FKTN ITGA7 LAMA2 POMGNT1
7 nervous system MP:0003631 9.17 DAG1 DMD FKTN ITGA7 LAMA2 POMGNT1

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

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

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

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

id Genetic test Affiliating Genes
1 Fukuyama Congenital Muscular Dystrophy 29 24 FKTN

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

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

39
Eye, Brain, Skeletal Muscle

Publications for Muscular Dystrophy-Dystroglycanopathy , Type a, 4

Variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 4

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

66
id Symbol AA change Variation ID SNP ID
1 FKTN p.Cys250Gly VAR_018278
2 FKTN p.Ala170Glu VAR_065051 rs119464997
3 FKTN p.Tyr371Cys VAR_065054 rs119464998

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

6 (show all 13)
id Gene Variation Type Significance SNP ID Assembly Location
1 FKTN NM_006731.2(FKTN): c.*4392_*4393insAB185332.1 insertion Pathogenic
2 FKTN NM_001079802.1(FKTN): c.1167dupA (p.Phe390Ilefs) duplication Pathogenic rs398123555 GRCh38 Chromosome 9, 105620056: 105620056
3 FKTN NM_001079802.1(FKTN): c.919C> T (p.Arg307Ter) single nucleotide variant Pathogenic/Likely pathogenic rs267606814 GRCh37 Chromosome 9, 108380248: 108380248
4 FKTN NM_001079802.1(FKTN): c.642dupT (p.Asp215Terfs) duplication Pathogenic/Likely pathogenic rs398123557 GRCh37 Chromosome 9, 108366768: 108366768
5 FKTN NM_001079802.1(FKTN): c.*4375_*4376ins3062 insertion Pathogenic GRCh37 Chromosome 9, 108401920: 108401921
6 FKTN NM_001079802.1(FKTN): c.330dupT (p.Thr111Tyrfs) duplication Pathogenic/Likely pathogenic rs886042245 GRCh37 Chromosome 9, 108363590: 108363590
7 FKTN NM_001079802.1(FKTN): c.456_457delAC (p.Ser154Trpfs) deletion Pathogenic rs886042664 GRCh37 Chromosome 9, 108366582: 108366583
8 FKTN NM_001079802.1(FKTN): c.109G> T (p.Gly37Ter) single nucleotide variant Likely pathogenic rs773884973 GRCh38 Chromosome 9, 105596601: 105596601
9 FKTN NM_001079802.1(FKTN): c.429delA (p.Asp144Ilefs) deletion Likely pathogenic rs1057516258 GRCh38 Chromosome 9, 105604274: 105604274
10 FKTN NM_001079802.1(FKTN): c.658_661delCAGC (p.Gln220Lysfs) deletion Likely pathogenic rs1057517160 GRCh38 Chromosome 9, 105607829: 105607832
11 FKTN NM_001079802.1(FKTN): c.770delC (p.Ala257Aspfs) deletion Likely pathogenic rs1057516966 GRCh37 Chromosome 9, 108370222: 108370222
12 FKTN NM_001079802.1(FKTN): c.780+1G> A single nucleotide variant Likely pathogenic rs370819786 GRCh37 Chromosome 9, 108370233: 108370233
13 FKTN NM_001079802.1(FKTN): c.1106delT (p.Phe369Serfs) deletion Likely pathogenic rs1057516999 GRCh37 Chromosome 9, 108382276: 108382276

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

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 245109 9 101600000 113900000 Copy number FCMD Fukuyama congenital muscular dystrophy

Expression for Muscular Dystrophy-Dystroglycanopathy , Type a, 4

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

Pathways for Muscular Dystrophy-Dystroglycanopathy , Type a, 4

GO Terms for Muscular Dystrophy-Dystroglycanopathy , Type a, 4

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

id Name GO ID Score Top Affiliating Genes
1 filopodium GO:0030175 9.26 DAG1 DMD
2 costamere GO:0043034 9.16 DAG1 DMD
3 dystrophin-associated glycoprotein complex GO:0016010 8.96 DAG1 DMD
4 sarcolemma GO:0042383 8.8 DAG1 DMD LAMA2

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

id Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.62 DAG1 ITGA7 LAMA2 POMT1
2 protein glycosylation GO:0006486 9.56 FKTN POMGNT1 POMGNT2 POMT1
3 muscle organ development GO:0007517 9.46 DMD FKTN ITGA7 LAMA2
4 skeletal muscle tissue regeneration GO:0043403 9.43 DAG1 DMD
5 response to denervation involved in regulation of muscle adaptation GO:0014894 9.4 DAG1 DMD
6 Schwann cell differentiation GO:0014037 9.37 DAG1 LAMA2
7 protein O-linked mannosylation GO:0035269 9.13 FKTN POMGNT2 POMT1
8 protein O-linked glycosylation GO:0006493 8.92 DAG1 POMGNT1 POMGNT2 POMT1

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

id Name GO ID Score Top Affiliating Genes
1 transferase activity, transferring glycosyl groups GO:0016757 9.43 POMGNT1 POMGNT2 POMT1
2 structural constituent of muscle GO:0008307 9.32 DAG1 DMD
3 acetylglucosaminyltransferase activity GO:0008375 9.16 POMGNT1 POMGNT2
4 vinculin binding GO:0017166 8.96 DAG1 DMD
5 dystroglycan binding GO:0002162 8.62 DAG1 DMD

Sources for Muscular Dystrophy-Dystroglycanopathy , Type a, 4

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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