MCID: MSC037
MIFTS: 51

Muscular Dystrophy-Dystroglycanopathy , Type a, 4

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

MalaCards integrated aliases 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 29 52 14
Fcmd 23 24 25 56 71
Fukuyama Type Congenital Muscular Dystrophy 23 25 69
Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies, Type A4 29
Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies A4 71
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
Congenital Muscular Dystrophy Fukuyama Type 71
Cerebromuscular Dystrophy, Fukuyama Type 25
Cerebromuscular Dystrophy Fukuyama Type 71
Polymicrogyria with Muscular Dystrophy 25
Micropolygyria with Muscular Dystrophy 71
Muscle-Eye-Brain Disease Fktn-Related 71
Walker-Warburg Syndrome Fktn-Related 71
Fukuyama Muscular Dystrophy 25
Fukuyama Syndrome 25
Fukuyama Cmd 25
Mddga4 71

Characteristics:

Orphanet epidemiological data:

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

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
incidence of 1 per 10,000 births in japan


HPO:

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


Classifications:



Summaries for Muscular Dystrophy-Dystroglycanopathy , Type a, 4

OMIM : 54
MDDGA4 is a severe autosomal recessive muscular dystrophy-dystroglycanopathy with characteristic brain and eye malformations, seizures, and mental retardation. Cardiac involvement in FCMD/MEB occurs in the second decade of life in those who survive. FKTN-related Walker-Warburg syndrome is a more severe manifestation of the disorder, with death usually in the first year of life. These entities are part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as 'dystroglycanopathies' (Godfrey et al., 2007; Muntoni and Voit, 2004; Muntoni et al., 2008). For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (236670). (253800)

MalaCards based summary : Muscular Dystrophy-Dystroglycanopathy , Type a, 4, also known as fukuyama congenital muscular dystrophy, is related to muscular dystrophy, congenital, merosin-positive and fukuyama type muscular dystrophy, and has symptoms including visual impairment, optic atrophy and ventriculomegaly. 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 growth/size/body region

UniProtKB/Swiss-Prot : 71 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.

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.

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 48)
id Related Disease Score Top Affiliating Genes
1 muscular dystrophy, congenital, merosin-positive 11.1
2 fukuyama type muscular dystrophy 10.8
3 muscular dystrophy 10.8
4 galactorrhoea-hyperprolactinaemia 10.6 FKRP FKTN
5 muscular dystrophy-dystroglycanopathy , type b, 1 10.5 POMGNT1 POMT1
6 multiple endocrine neoplasia 10.4 DMD FKRP
7 obesity due to sim1 deficiency 10.3 FKRP FKTN POMT1
8 neuropathy, hereditary sensory and autonomic, type viii 10.2 POMT1 POMT2
9 alzheimer disease, type 3 10.2 POMT1 POMT2
10 angiodysplasia 10.2 FKTN POMGNT1 POMT1
11 neuronitis 10.1
12 cubitus valgus with mental retardation and unusual facies 10.1 DMD LAMA2
13 hirschsprung disease 5 10.1 FKRP FKTN POMT2
14 charcot-marie-tooth disease, type 2b2 10.0 FKRP LAMA2 POMGNT2
15 autosomal recessive limb-girdle muscular dystrophy type 2e 10.0 DMD FKRP POMT1
16 hemorrhagic disease due to alpha-1-antitrypsin pittsburgh mutation 10.0 DMD FKTN
17 cylindrical spirals myopathy 10.0 DMD ITGA7
18 leigh syndrome 10.0
19 microcephaly 10.0
20 polymicrogyria 10.0
21 craniofrontonasal dysplasia 9.8 DMD FKRP FKTN LAMA2
22 muscular dystrophy, rigid spine, 1 9.8 DMD LAMA2
23 miyoshi muscular dystrophy 3 9.8 FKRP FKTN POMT1 POMT2
24 intellectual disability-facial dysmorphism-hand anomalies syndrome 9.7 FKRP POMGNT1 POMT1 POMT2
25 pulmonary hypertension, primary, 2 9.7 DAG1 DMD
26 antley-bixler syndrome 9.7 DAG1 FKRP FKTN
27 tooth agenesis 9.7 FKRP POMGNT1 POMT1 POMT2
28 scn1b-related generalized epilepsy with febrile seizures plus 9.7 DAG1 DMD
29 casr-related disorders 9.6 DMD FKRP FKTN LAMA2
30 cardiomyopathy, dilated, 1d 9.6 DAG1 DMD LAMA2
31 cardiomyopathy, dilated, 1a 9.6 DAG1 DMD LAMA2
32 intellectual disability-hyperkinetic movement-truncal ataxia syndrome 9.4 FKRP LARGE1 POMT1 POMT2
33 immunodeficiency 34, mycobacteriosis, x-linked 9.4 DAG1 DMD ITGA7
34 coronary artery disease 9.3 FKRP FKTN LARGE1 POMGNT1 POMT1
35 clear cell sarcoma 9.3 DMD FKRP ITGA7 LAMA2
36 autosomal recessive nonsyndromic deafness 3 9.3 DAG1 DMD FKTN LAMA2
37 cerebellar ataxia and hypogonadotropic hypogonadism 9.3 DAG1 DMD FKTN LAMA2
38 muscular dystrophy, congenital, 1b 9.0 DAG1 DMD FKRP FKTN LAMA2
39 eosinophilic variant of chromophobe renal cell carcinoma 9.0 DAG1 DMD FKRP FKTN LAMA2
40 ectodermal dysplasia 9.0 DAG1 DMD FKRP FKTN LAMA2
41 glycogen storage disease 0, muscle 7.3 DAG1 DMD FKRP FKTN LAMA2 POMGNT1
42 dermatofibrosarcoma protuberans 7.2 DAG1 DMD FKRP FKTN LAMA2 LARGE1
43 complement component c2 deficiency 7.0 DAG1 DMD FKRP FKTN LARGE1 POMGNT1
44 nonsyndromic deafness 6.7 DAG1 DMD FKRP FKTN LAMA2 LARGE1
45 muscular phosphorylase kinase deficiency 6.7 DAG1 DMD FKRP FKTN LAMA2 LARGE1
46 muscular dystrophy, congenital 6.3 DAG1 DMD FKRP FKTN ITGA7 LAMA2
47 muscular dystrophy-dystroglycanopathy , type b, 4 6.3 DAG1 DMD FKRP FKTN ITGA7 LAMA2
48 periodontosis 6.3 DAG1 DMD FKRP FKTN ITGA7 LAMA2

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 via clinical synopsis from OMIM:

54

Skeletal- Spine:
spinal rigidity
scoliosis

Neurologic- Central Nervous System:
mental retardation
seizures
hydrocephalus
white matter changes
cerebellar hypoplasia
more
Cardiovascular- Heart:
atrial septal defect
pulmonary stenosis
myocardial fibrosis
dilated cardiomyopathy (onset in second decade)
cardiac defects (reported in 1 patient)
more
Respiratory:
respiratory insufficiency

Skeletal:
contractures, progressive

Muscle Soft Tissue:
hypotonia
muscular dystrophy
muscle biopsy shows decreased glycosylation of alpha-dystroglycan (dag1, )
muscle atrophy
calf muscle hypertrophy

Head And Neck- Eyes:
optic atrophy
strabismus
myopia
retinal detachment
cataracts
more
Laboratory- Abnormalities:
increased serum creatine kinase

Neurologic- Peripheral Nervous System:
hypo- or areflexia


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 visual impairment 56 32 occasional (7.5%) Occasional (29-5%) HP:0000505
2 optic atrophy 56 32 occasional (7.5%) Occasional (29-5%) HP:0000648
3 ventriculomegaly 56 32 frequent (33%) Frequent (79-30%) HP:0002119
4 myopia 56 32 frequent (33%) Frequent (79-30%) HP:0000545
5 intellectual disability, severe 56 32 hallmark (90%) Very frequent (99-80%) HP:0010864
6 seizures 56 32 frequent (33%) Frequent (79-30%) HP:0001250
7 hydrocephalus 56 32 frequent (33%) Frequent (79-30%) HP:0000238
8 intrauterine growth retardation 56 32 occasional (7.5%) Occasional (29-5%) HP:0001511
9 glaucoma 56 32 occasional (7.5%) Occasional (29-5%) HP:0000501
10 muscular dystrophy 56 32 hallmark (90%) Very frequent (99-80%) HP:0003560
11 global developmental delay 56 32 hallmark (90%) Very frequent (99-80%) HP:0001263
12 dilated cardiomyopathy 56 32 occasional (7.5%) Occasional (29-5%) HP:0001644
13 cataract 56 32 occasional (7.5%) Occasional (29-5%) HP:0000518
14 myopathy 56 32 hallmark (90%) Very frequent (99-80%) HP:0003198
15 pectus excavatum 56 32 frequent (33%) Frequent (79-30%) HP:0000767
16 brachycephaly 56 32 frequent (33%) Frequent (79-30%) HP:0000248
17 plagiocephaly 56 32 hallmark (90%) Very frequent (99-80%) HP:0001357
18 dolichocephaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0000268
19 muscular hypotonia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001252
20 weak cry 56 32 frequent (33%) Frequent (79-30%) HP:0001612
21 retinal dysplasia 56 32 occasional (7.5%) Occasional (29-5%) HP:0007973
22 gait disturbance 56 32 hallmark (90%) Very frequent (99-80%) HP:0001288
23 hypoglycosylation of alpha-dystroglycan 56 32 hallmark (90%) Very frequent (99-80%) HP:0030046
24 mask-like facies 56 32 hallmark (90%) Very frequent (99-80%) HP:0000298
25 delayed speech and language development 56 32 hallmark (90%) Very frequent (99-80%) HP:0000750
26 eeg abnormality 56 32 frequent (33%) Frequent (79-30%) HP:0002353
27 flexion contracture 56 32 Very frequent (99-80%) HP:0001371
28 emg abnormality 56 32 hallmark (90%) Very frequent (99-80%) HP:0003457
29 camptodactyly of finger 56 32 frequent (33%) Frequent (79-30%) HP:0100490
30 aplasia/hypoplasia of the corpus callosum 56 32 occasional (7.5%) Occasional (29-5%) HP:0007370
31 type ii lissencephaly 56 32 hallmark (90%) Very frequent (99-80%) HP:0007260
32 spinal rigidity 32 HP:0003306
33 scoliosis 32 HP:0002650
34 strabismus 32 HP:0000486
35 retinal detachment 32 HP:0000541
36 atrial septal defect 32 HP:0001631
37 microphthalmia 32 HP:0000568
38 cerebellar hypoplasia 32 HP:0001321
39 pachygyria 32 HP:0001302
40 polymicrogyria 32 HP:0002126
41 muscle weakness 32 HP:0001324
42 intellectual disability 32 HP:0001249
43 areflexia 32 HP:0001284
44 agenesis of corpus callosum 32 HP:0001274
45 pulmonic stenosis 32 HP:0001642
46 respiratory insufficiency 32 HP:0002093
47 hypermetropia 32 HP:0000540
48 holoprosencephaly 32 occasional (7.5%) HP:0001360
49 encephalocele 32 HP:0002084
50 myocardial fibrosis 32 HP:0001685

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 10.02 POMT2 DAG1 DMD FKRP FKTN ITGA7
2 growth/size/body region MP:0005378 10.02 DAG1 DMD FKRP FKTN ITGA7 LAMA2
3 behavior/neurological MP:0005386 10.01 DAG1 DMD FKRP FKTN ITGA7 LAMA2
4 homeostasis/metabolism MP:0005376 9.91 POMGNT1 POMGNT2 DAG1 DMD FKRP FKTN
5 mortality/aging MP:0010768 9.9 POMT2 DAG1 DMD FKRP FKTN ITGA7
6 muscle MP:0005369 9.61 DAG1 DMD FKRP FKTN ITGA7 LAMA2
7 nervous system MP:0003631 9.32 DAG1 DMD FKRP FKTN ITGA7 LAMA2

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
2 Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies, Type A4 29

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:

71
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 23)
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.139C> T (p.Arg47Ter) single nucleotide variant Pathogenic rs119463990 GRCh37 Chromosome 9, 108358912: 108358912
3 FKTN NM_006731.2(FKTN): c.187_188delAT (p.Met63Valfs) deletion Pathogenic rs587777813 GRCh38 Chromosome 9, 105601166: 105601167
4 FKTN FKTN, L1 INS insertion Pathogenic
5 FKTN NM_001079802.1(FKTN): c.1167dupA (p.Phe390Ilefs) duplication Pathogenic rs398123555 GRCh38 Chromosome 9, 105620056: 105620056
6 FKTN NM_006731.2(FKTN): c.454dupT (p.Ser152Phefs) duplication Pathogenic rs587777748 GRCh38 Chromosome 9, 105604299: 105604299
7 FKTN NM_001079802.1(FKTN): c.346C> T (p.Gln116Ter) single nucleotide variant Pathogenic rs119463991 GRCh37 Chromosome 9, 108363606: 108363606
8 FKTN FKTN, 473-BP DEL, NT5370 deletion Pathogenic
9 FKTN NM_001079802.1(FKTN): c.509C> A (p.Ala170Glu) single nucleotide variant Pathogenic rs119464997 GRCh37 Chromosome 9, 108366635: 108366635
10 FKTN NM_001079802.1(FKTN): c.1112A> G (p.Tyr371Cys) single nucleotide variant Pathogenic rs119464998 GRCh37 Chromosome 9, 108382282: 108382282
11 FKTN NM_001079802.1(FKTN): c.919C> T (p.Arg307Ter) single nucleotide variant Pathogenic/Likely pathogenic rs267606814 GRCh37 Chromosome 9, 108380248: 108380248
12 FKTN NM_001079802.1(FKTN): c.642dupT (p.Asp215Terfs) duplication Pathogenic/Likely pathogenic rs398123557 GRCh37 Chromosome 9, 108366768: 108366768
13 FKTN NM_001079802.1(FKTN): c.*4375_*4376ins3062 insertion Pathogenic GRCh37 Chromosome 9, 108401920: 108401921
14 FKTN NM_001079802.1(FKTN): c.607C> T (p.Arg203Ter) single nucleotide variant Pathogenic rs746763506 GRCh38 Chromosome 9, 105604452: 105604452
15 FKTN NM_001079802.1(FKTN): c.330dupT (p.Thr111Tyrfs) duplication Pathogenic/Likely pathogenic rs886042245 GRCh37 Chromosome 9, 108363590: 108363590
16 FKTN NM_001079802.1(FKTN): c.456_457delAC (p.Ser154Trpfs) deletion Pathogenic rs886042664 GRCh37 Chromosome 9, 108366582: 108366583
17 FKTN NM_001079802.1(FKTN): c.109G> T (p.Gly37Ter) single nucleotide variant Likely pathogenic rs773884973 GRCh38 Chromosome 9, 105596601: 105596601
18 FKTN NM_001079802.1(FKTN): c.429delA (p.Asp144Ilefs) deletion Likely pathogenic rs1057516258 GRCh38 Chromosome 9, 105604274: 105604274
19 FKTN NM_001079802.1(FKTN): c.658_661delCAGC (p.Gln220Lysfs) deletion Likely pathogenic rs1057517160 GRCh38 Chromosome 9, 105607829: 105607832
20 FKTN NM_001079802.1(FKTN): c.770delC (p.Ala257Aspfs) deletion Likely pathogenic rs1057516966 GRCh38 Chromosome 9, 105607941: 105607941
21 FKTN NM_001079802.1(FKTN): c.780+1G> A single nucleotide variant Likely pathogenic rs370819786 GRCh37 Chromosome 9, 108370233: 108370233
22 FKTN NM_001079802.1(FKTN): c.1106delT (p.Phe369Serfs) deletion Likely pathogenic rs1057516999 GRCh38 Chromosome 9, 105619995: 105619995
23 FKRP NM_001039885.2(FKRP): c.679G> C (p.Ala227Pro) single nucleotide variant Pathogenic rs775681117 GRCh38 Chromosome 19, 46756129: 46756129

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 integral component of membrane GO:0016021 9.91 DAG1 FKRP FKTN ITGA7 LARGE1 POMGNT1
2 endoplasmic reticulum GO:0005783 9.83 FKRP FKTN POMGNT2 POMT1 POMT2
3 Golgi apparatus GO:0005794 9.71 FKRP FKTN LARGE1 POMGNT1
4 Golgi membrane GO:0000139 9.62 FKRP FKTN LARGE1 POMGNT1
5 sarcolemma GO:0042383 9.26 DAG1 DMD FKRP LAMA2
6 costamere GO:0043034 9.16 DAG1 DMD
7 dystrophin-associated glycoprotein complex GO:0016010 8.8 DAG1 DMD FKRP
8 membrane GO:0016020 10.07 DAG1 DMD FKRP FKTN ITGA7 LARGE1

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

(show all 13)
id Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.71 DAG1 ITGA7 LAMA2 POMT1
2 protein glycosylation GO:0006486 9.7 FKRP FKTN LARGE1 POMGNT1 POMGNT2 POMT1
3 muscle organ development GO:0007517 9.62 DMD FKTN ITGA7 LAMA2
4 muscle cell cellular homeostasis GO:0046716 9.52 DMD LARGE1
5 mannosylation GO:0097502 9.51 POMT1 POMT2
6 ER-associated misfolded protein catabolic process GO:0071712 9.49 POMT1 POMT2
7 response to denervation involved in regulation of muscle adaptation GO:0014894 9.48 DAG1 DMD
8 glycoprotein biosynthetic process GO:0009101 9.46 FKRP LARGE1
9 Schwann cell differentiation GO:0014037 9.43 DAG1 LAMA2
10 skeletal muscle tissue regeneration GO:0043403 9.43 DAG1 DMD LARGE1
11 protein O-linked glycosylation GO:0006493 9.43 DAG1 LARGE1 POMGNT1 POMGNT2 POMT1 POMT2
12 positive regulation of protein O-linked glycosylation GO:1904100 9.37 POMT1 POMT2
13 protein O-linked mannosylation GO:0035269 9.1 FKRP FKTN LARGE1 POMGNT2 POMT1 POMT2

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 GO:0016740 9.8 FKRP FKTN LARGE1 POMGNT1 POMGNT2 POMT1
2 structural constituent of muscle GO:0008307 9.4 DAG1 DMD
3 vinculin binding GO:0017166 9.37 DAG1 DMD
4 dystroglycan binding GO:0002162 9.32 DAG1 DMD
5 dolichyl-phosphate-mannose-protein mannosyltransferase activity GO:0004169 9.16 POMT1 POMT2
6 acetylglucosaminyltransferase activity GO:0008375 9.13 LARGE1 POMGNT1 POMGNT2
7 transferase activity, transferring glycosyl groups GO:0016757 9.02 LARGE1 POMGNT1 POMGNT2 POMT1 POMT2

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
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55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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