MCID: MSC037
MIFTS: 56

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 57 13
Fukuyama Congenital Muscular Dystrophy 57 12 24 25 59 37 29 55 6 15
Fcmd 57 24 25 59 75
Fukuyama Type Congenital Muscular Dystrophy 24 25 73
Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies, Type A4 29 6
Mddga4 57 75
Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies A4 75
Muscular Dystrophy, Congenital, with Central Nervous System Involvement 25
Muscular Dystrophy, Congenital Progressive, with Mental Retardation 25
Walker-Warburg Syndrome or Muscle-Eye-Brain Disease, Fktn-Related 57
Muscular Dystrophy, Congenital, Fukuyama Type 25
Fukuyama Congenital Muscular Dystrophy; Fcmd 57
Congenital Muscular Dystrophy, Fukuyama Type 59
Congenital Muscular Dystrophy Fukuyama Type 75
Cerebromuscular Dystrophy, Fukuyama Type 25
Cerebromuscular Dystrophy Fukuyama Type 75
Polymicrogyria with Muscular Dystrophy 25
Micropolygyria with Muscular Dystrophy 75
Muscle-Eye-Brain Disease Fktn-Related 75
Walker-Warburg Syndrome Fktn-Related 75
Fukuyama Muscular Dystrophy 25
Fukuyama Syndrome 25
Fukuyama Cmd 25

Characteristics:

Orphanet epidemiological data:

59
congenital muscular dystrophy, fukuyama type
Prevalence: 1-9/100000 (Japan);

OMIM:

57
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 : 57 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, lmna-related and muscular dystrophy, and has symptoms including seizures An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type a, 4 is FKTN (Fukutin), and among its related pathways/superpathways are Mannose type O-glycan biosynthesis and Degradation of the extracellular matrix. Affiliated tissues include eye, brain and skeletal muscle, and related phenotypes are pectus excavatum and hydrocephalus

UniProtKB/Swiss-Prot : 75 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, 1 Muscular Dystrophy-Dystroglycanopathy , Type a, 3
Muscular Dystrophy-Dystroglycanopathy , Type a, 4 Muscular Dystrophy-Dystroglycanopathy , Type B, 5
Muscular Dystrophy-Dystroglycanopathy , Type C, 5 Muscular Dystrophy-Dystroglycanopathy , Type B, 6
Muscular Dystrophy-Dystroglycanopathy , Type C, 1 Muscular Dystrophy-Dystroglycanopathy , Type C, 4
Muscular Dystrophy-Dystroglycanopathy , Type a, 2 Muscular Dystrophy-Dystroglycanopathy , Type B, 3
Muscular Dystrophy-Dystroglycanopathy , Type B, 4 Muscular Dystrophy-Dystroglycanopathy , Type a, 5
Muscular Dystrophy-Dystroglycanopathy , Type a, 6 Muscular Dystrophy-Dystroglycanopathy , Type B, 1
Muscular Dystrophy-Dystroglycanopathy , Type B, 2 Muscular Dystrophy-Dystroglycanopathy , Type C, 3
Muscular Dystrophy-Dystroglycanopathy , Type C, 2 Muscular Dystrophy-Dystroglycanopathy , Type C, 9
Muscular Dystrophy-Dystroglycanopathy , Type a, 7 Muscular Dystrophy-Dystroglycanopathy , Type a, 8
Muscular Dystrophy-Dystroglycanopathy , Type a, 10 Muscular Dystrophy-Dystroglycanopathy , Type a, 11
Muscular Dystrophy-Dystroglycanopathy , Type a, 12 Muscular Dystrophy-Dystroglycanopathy , Type a, 13
Muscular Dystrophy-Dystroglycanopathy , Type a, 14 Muscular Dystrophy-Dystroglycanopathy , Type B, 14
Muscular Dystrophy-Dystroglycanopathy , Type C, 14 Muscular Dystrophy-Dystroglycanopathy , Type C, 7
Muscular Dystrophy-Dystroglycanopathy , Type C, 12 Muscular Dystrophy-Dystroglycanopathy , Type a, 9

Diseases related to Muscular Dystrophy-Dystroglycanopathy , Type a, 4 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 42)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy, congenital, lmna-related 28.6 DAG1 FKRP FKTN LAMA2 POMGNT1 POMT1
2 muscular dystrophy 24.1 DAG1 DMD FKRP FKTN ITGA7 LAMA2
3 fukuyama type muscular dystrophy 12.0
4 muscular dystrophy, congenital, merosin-positive 11.2
5 polyglucosan body myopathy 1 with or without immunodeficiency 10.3 DMD FKRP
6 congenital muscular dystrophy without intellectual disability 10.2 FKRP FKTN POMT1
7 creatine phosphokinase, elevated serum 10.2 DMD LAMA2
8 muscular dystrophy, limb-girdle, type 2f 10.2 DMD FKRP
9 myopathy, x-linked, with excessive autophagy 10.2 DMD LAMA2
10 muscular dystrophy-dystroglycanopathy , type c, 1 10.2 POMT1 POMT2
11 muscular dystrophy-dystroglycanopathy , type c, 2 10.1 POMT1 POMT2
12 congenital nervous system abnormality 10.1 FKTN POMGNT1 POMT1
13 muscular dystrophy, limb-girdle, type 2b 10.1 DMD FKRP
14 familial isolated dilated cardiomyopathy 10.1 DMD FKTN
15 isolated hyperckemia 10.1 DMD FKRP LAMA2
16 muscular dystrophy-dystroglycanopathy , type c, 4 10.0 FKRP FKTN POMT2
17 muscular dystrophy, becker type 10.0 DMD FKTN LAMA2
18 autosomal recessive limb-girdle muscular dystrophy 10.0 DMD FKRP POMT1
19 muscular dystrophy-dystroglycanopathy , type c, 5 10.0 FKRP LAMA2 POMGNT2
20 myopathy, congenital 9.8 DMD ITGA7
21 muscular dystrophy, limb-girdle, type 2c 9.7 DAG1 DMD
22 rigid spine muscular dystrophy 1 9.6 DMD LAMA2
23 muscular dystrophy, limb-girdle, type 2l 9.6 FKRP FKTN POMT1 POMT2
24 congenital muscular dystrophy with cerebellar involvement 9.6 FKRP POMGNT1 POMT1 POMT2
25 lissencephaly 9.6 DAG1 FKRP FKTN
26 cardiomyopathy, dilated, 1d 9.4 DAG1 DMD LAMA2
27 cardiomyopathy, dilated, 1a 9.4 DAG1 DMD LAMA2
28 limb-girdle muscular dystrophy 9.3 DMD FKRP FKTN POMGNT1 POMT1
29 congenital muscular dystrophy with intellectual disability 9.3 FKRP LARGE1 POMT1 POMT2
30 ablepharon-macrostomia syndrome 9.1 FKRP FKTN LARGE1 POMGNT1 POMT1
31 cardiomyopathy, dilated, 1b 9.1 DAG1 DMD FKTN LAMA2
32 muscular dystrophy, congenital merosin-deficient, 1a 9.1 DAG1 DMD FKTN LAMA2
33 muscular dystrophy-dystroglycanopathy 9.0 FKRP POMGNT1 POMGNT2 POMT1 POMT2
34 muscular dystrophy-dystroglycanopathy , type a, 1 8.9 FKRP FKTN LARGE1 POMT1 POMT2
35 muscular dystrophy, congenital, 1b 8.8 DAG1 DMD FKRP FKTN LAMA2
36 muscle tissue disease 8.8 DAG1 DMD FKRP FKTN LAMA2
37 dilated cardiomyopathy 8.7 DAG1 DMD FKRP FKTN LAMA2
38 myopathy 8.5 DAG1 DMD FKRP ITGA7 LAMA2
39 muscular dystrophy-dystroglycanopathy , type b, 5 6.8 DAG1 DMD FKRP FKTN LAMA2 POMGNT1
40 muscular dystrophy-dystroglycanopathy , type b, 6 6.6 DAG1 DMD FKRP FKTN LAMA2 LARGE1
41 walker-warburg syndrome 6.0 DAG1 DMD FKRP FKTN LAMA2 LARGE1
42 muscle eye brain disease 6.0 DAG1 DMD FKRP FKTN LAMA2 LARGE1

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:

57
Neurologic Central Nervous System:
hydrocephalus
seizures
cerebellar hypoplasia
pachygyria
polymicrogyria
more
Skeletal Spine:
scoliosis
spinal rigidity

Cardiovascular Heart:
atrial septal defect
transposition of the great arteries
myocardial fibrosis
pulmonary stenosis
dilated cardiomyopathy (onset in second decade)
more
Laboratory Abnormalities:
increased serum creatine kinase

Neurologic Peripheral Nervous System:
hypo- or areflexia

Respiratory:
respiratory insufficiency

Head And Neck Eyes:
optic atrophy
strabismus
myopia
microphthalmia
retinal detachment
more
Muscle Soft Tissue:
muscular dystrophy
calf muscle hypertrophy
hypotonia
muscle atrophy
muscle biopsy shows decreased glycosylation of alpha-dystroglycan (dag1, )

Skeletal:
contractures, progressive


Clinical features from OMIM:

253800

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

59 32 (show top 50) (show all 60)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pectus excavatum 59 32 frequent (33%) Frequent (79-30%) HP:0000767
2 hydrocephalus 59 32 frequent (33%) Frequent (79-30%) HP:0000238
3 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
4 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
5 gait disturbance 59 32 hallmark (90%) Very frequent (99-80%) HP:0001288
6 eeg abnormality 59 32 frequent (33%) Frequent (79-30%) HP:0002353
7 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
8 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
9 delayed speech and language development 59 32 hallmark (90%) Very frequent (99-80%) HP:0000750
10 visual impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000505
11 optic atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000648
12 flexion contracture 59 32 Very frequent (99-80%) HP:0001371
13 myopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0003198
14 brachycephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000248
15 intellectual disability, severe 59 32 hallmark (90%) Very frequent (99-80%) HP:0010864
16 emg abnormality 59 32 hallmark (90%) Very frequent (99-80%) HP:0003457
17 dolichocephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000268
18 intrauterine growth retardation 59 32 occasional (7.5%) Occasional (29-5%) HP:0001511
19 myopia 59 32 frequent (33%) Frequent (79-30%) HP:0000545
20 mask-like facies 59 32 hallmark (90%) Very frequent (99-80%) HP:0000298
21 ventriculomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0002119
22 glaucoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000501
23 retinal dysplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0007973
24 camptodactyly of finger 59 32 frequent (33%) Frequent (79-30%) HP:0100490
25 plagiocephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001357
26 aplasia/hypoplasia of the corpus callosum 59 32 occasional (7.5%) Occasional (29-5%) HP:0007370
27 weak cry 59 32 frequent (33%) Frequent (79-30%) HP:0001612
28 muscular dystrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0003560
29 dilated cardiomyopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001644
30 type ii lissencephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0007260
31 hypoglycosylation of alpha-dystroglycan 59 32 hallmark (90%) Very frequent (99-80%) HP:0030046
32 agenesis of corpus callosum 32 HP:0001274
33 intellectual disability 32 HP:0001249
34 muscle weakness 32 HP:0001324
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 atrial septal defect 32 HP:0001631
41 cerebellar hypoplasia 32 HP:0001321
42 microphthalmia 32 HP:0000568
43 retinal detachment 32 HP:0000541
44 areflexia 32 HP:0001284
45 pulmonic stenosis 32 HP:0001642
46 holoprosencephaly 32 occasional (7.5%) HP:0001360
47 spinal rigidity 32 HP:0003306
48 pachygyria 32 HP:0001302
49 polymicrogyria 32 HP:0002126
50 encephalocele 32 HP:0002084

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


seizures

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.03 POMGNT1 FKTN DAG1 ITGA7 DMD LAMA2
2 cellular MP:0005384 10.02 POMGNT1 POMGNT2 POMT2 FKTN DAG1 ITGA7
3 growth/size/body region MP:0005378 10.02 POMGNT1 POMGNT2 POMT2 FKTN DAG1 ITGA7
4 cardiovascular system MP:0005385 9.95 POMGNT1 POMT1 DAG1 ITGA7 DMD FKRP
5 homeostasis/metabolism MP:0005376 9.91 POMGNT1 POMGNT2 FKTN DAG1 ITGA7 DMD
6 mortality/aging MP:0010768 9.9 POMGNT2 POMT1 POMT2 DAG1 ITGA7 DMD
7 muscle MP:0005369 9.61 POMT1 DAG1 ITGA7 DMD LAMA2 FKRP
8 nervous system MP:0003631 9.32 POMGNT2 POMT2 DAG1 ITGA7 DMD 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:

# Genetic test Affiliating Genes
1 Fukuyama Congenital Muscular Dystrophy 29 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:

41
Eye, Brain, Skeletal Muscle

Publications for Muscular Dystrophy-Dystroglycanopathy , Type a, 4

Articles related to Muscular Dystrophy-Dystroglycanopathy , Type a, 4:

(show all 42)
# Title Authors Year
1
Novel FKRP mutations in a Japanese MDC1C sibship clinically diagnosed with Fukuyama congenital muscular dystrophy. ( 28629604 )
2017
2
Founder mutation causes classical Fukuyama congenital muscular dystrophy (FCMD) in Chinese patients. ( 25814170 )
2015
3
Contribution of dysferlin deficiency to skeletal muscle pathology in asymptomatic and severe dystroglycanopathy models: generation of a new model for Fukuyama congenital muscular dystrophy. ( 25198651 )
2014
4
Novel mutation in the fukutin gene in an Egyptian family with Fukuyama congenital muscular dystrophy and microcephaly. ( 24530477 )
2014
5
Leigh syndrome with Fukuyama congenital muscular dystrophy: A case report. ( 24113355 )
2013
6
Peripheral nerve involvement in fukuyama congenital muscular dystrophy: a case report. ( 22378666 )
2013
7
A Portuguese case of Fukuyama congenital muscular dystrophy caused by a multi-exonic duplication in the fukutin gene. ( 23582336 )
2013
8
MRI findings in Fukuyama congenital muscular dystrophy: a rare case report. ( 22553003 )
2012
9
Severe muscle damage following viral infection in patients with Fukuyama congenital muscular dystrophy. ( 21726969 )
2012
10
A case of Fukuyama congenital muscular dystrophy associated with negative electroretinograms. ( 21191726 )
2010
11
Fukutin gene retrotransposal insertion in a non-Japanese Fukuyama congenital muscular dystrophy (FCMD) patient. ( 19842201 )
2009
12
Clinical and genetic analysis of a Korean patient with Fukuyama congenital muscular dystrophy. ( 19324374 )
2009
13
Reduced expression of sarcospan in muscles of Fukuyama congenital muscular dystrophy. ( 18830929 )
2008
14
[Fukuyama congenital muscular dystrophy and related alpha-dystroglycanopathies]. ( 18975603 )
2008
15
[Fukuyama congenital muscular dystrophy--history and perspectives]. ( 18232332 )
2008
16
Altered glycosylation of alpha-dystroglycan in neurons of Fukuyama congenital muscular dystrophy brains. ( 16466646 )
2006
17
Prenatal diagnosis of Fukuyama congenital muscular dystrophy. ( 16570239 )
2006
18
Identification of a functional CRE in the promoter of Fukuyama congenital muscular dystrophy gene fukutin. ( 15893581 )
2005
19
Congenital muscular dystrophy with characteristic radiological findings similar to those with Fukuyama congenital muscular dystrophy. ( 15626844 )
2004
20
A rapid diagnostic method for a retrotransposal insertional mutation into the FCMD gene in Japanese patients with Fukuyama congenital muscular dystrophy. ( 15103718 )
2004
21
Fukutin expression in glial cells and neurons: implication in the brain lesions of Fukuyama congenital muscular dystrophy. ( 12172906 )
2002
22
The Fukuyama congenital muscular dystrophy story. ( 10734260 )
2000
23
Genetic heterogeneity in three Chinese children with Fukuyama congenital muscular dystrophy. ( 10714585 )
2000
24
Analysis of genotype and phenotype in fukuyama congenital muscular dystrophy. ( 11024205 )
2000
25
Haplotype-phenotype correlation in Fukuyama congenital muscular dystrophy. ( 10817652 )
2000
26
Immature astrocytes in Fukuyama congenital muscular dystrophy: an immunohistochemical study. ( 10029257 )
1999
27
Fukuyama congenital muscular dystrophy: a neuroradiologic review. ( 9562058 )
1998
28
Pial-glial barrier abnormalities in fetuses with Fukuyama congenital muscular dystrophy. ( 9071488 )
1997
29
Early ultrastructural changes in the central nervous system in Fukuyama congenital muscular dystrophy. ( 9206000 )
1997
30
Localization of laminin subunits in the central nervous system in Fukuyama congenital muscular dystrophy: an immunohistochemical investigation. ( 9255393 )
1997
31
Electron microscopic examination of basal lamina in Fukuyama congenital muscular dystrophy. ( 9185184 )
1997
32
Brain MR in Fukuyama congenital muscular dystrophy. ( 8730178 )
1996
33
Cerebellar MR in Fukuyama congenital muscular dystrophy: polymicrogyria with cystic lesions. ( 7847224 )
1994
34
Clinical spectrum and genetic studies of Fukuyama congenital muscular dystrophy. ( 7856660 )
1994
35
Dystrophin-associated glycoprotein and dystrophin co-localisation at sarcolemma in Fukuyama congenital muscular dystrophy. ( 8102757 )
1993
36
Fukuyama Congenital Muscular Dystrophy ( 20301385 )
1993
37
Possible influences on the expression of X chromosome-linked dystrophin abnormalities by heterozygosity for autosomal recessive Fukuyama congenital muscular dystrophy. ( 1731332 )
1992
38
Cerebellar micropolygyria in Fukuyama congenital muscular dystrophy: observations in fetal and pediatric cases. ( 2092587 )
1990
39
Cortical dysplasia in Fukuyama congenital muscular dystrophy (FCMD): a Golgi and angioarchitectonic analysis. ( 2457291 )
1988
40
Cortical dysplasia in a 23-week fetus with Fukuyama congenital muscular dystrophy (FCMD). ( 3314312 )
1987
41
A variant of Fukuyama congenital muscular dystrophy in a non-Japanese child. ( 3508701 )
1986
42
Long survival in Fukuyama congenital muscular dystrophy: occurrence of neurofibrillary tangles in the nucleus basalis of Meynert and locus ceruleus. ( 3799138 )
1986

Variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 4

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

75
# 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 top 50) (show all 153)
# 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_001079802.1(FKTN): c.139C> T (p.Arg47Ter) single nucleotide variant Pathogenic rs119463990 GRCh38 Chromosome 9, 105596631: 105596631
4 FKTN NM_006731.2(FKTN): c.187_188delAT (p.Met63Valfs) deletion Pathogenic rs587777813 GRCh38 Chromosome 9, 105601166: 105601167
5 FKTN NM_006731.2(FKTN): c.187_188delAT (p.Met63Valfs) deletion Pathogenic rs587777813 GRCh37 Chromosome 9, 108363447: 108363448
6 FKTN FKTN, L1 INS insertion Pathogenic
7 FKTN NM_001079802.1(FKTN): c.1167dupA (p.Phe390Ilefs) duplication Pathogenic rs398123555 GRCh38 Chromosome 9, 105620056: 105620056
8 FKTN NM_001079802.1(FKTN): c.1167dupA (p.Phe390Ilefs) duplication Pathogenic rs398123555 GRCh37 Chromosome 9, 108382337: 108382337
9 FKTN NM_006731.2(FKTN): c.454dupT (p.Ser152Phefs) duplication Pathogenic rs587777748 GRCh38 Chromosome 9, 105604299: 105604299
10 FKTN NM_006731.2(FKTN): c.454dupT (p.Ser152Phefs) duplication Pathogenic rs587777748 GRCh37 Chromosome 9, 108366580: 108366580
11 FKTN NM_001079802.1(FKTN): c.346C> T (p.Gln116Ter) single nucleotide variant Pathogenic rs119463991 GRCh37 Chromosome 9, 108363606: 108363606
12 FKTN NM_001079802.1(FKTN): c.346C> T (p.Gln116Ter) single nucleotide variant Pathogenic rs119463991 GRCh38 Chromosome 9, 105601325: 105601325
13 FKTN FKTN, 473-BP DEL, NT5370 deletion Pathogenic
14 FKTN NM_001079802.1(FKTN): c.509C> A (p.Ala170Glu) single nucleotide variant Pathogenic rs119464997 GRCh37 Chromosome 9, 108366635: 108366635
15 FKTN NM_001079802.1(FKTN): c.509C> A (p.Ala170Glu) single nucleotide variant Pathogenic rs119464997 GRCh38 Chromosome 9, 105604354: 105604354
16 FKTN NM_001079802.1(FKTN): c.919C> T (p.Arg307Ter) single nucleotide variant Pathogenic/Likely pathogenic rs267606814 GRCh37 Chromosome 9, 108380248: 108380248
17 FKTN NM_001079802.1(FKTN): c.919C> T (p.Arg307Ter) single nucleotide variant Pathogenic/Likely pathogenic rs267606814 GRCh38 Chromosome 9, 105617967: 105617967
18 FKTN NM_001079802.1(FKTN): c.642dupT (p.Asp215Terfs) duplication Pathogenic/Likely pathogenic rs398123557 GRCh37 Chromosome 9, 108366768: 108366768
19 FKTN NM_001079802.1(FKTN): c.642dupT (p.Asp215Terfs) duplication Pathogenic/Likely pathogenic rs398123557 GRCh38 Chromosome 9, 105604487: 105604487
20 FKTN NM_001079802.1(FKTN): c.-90delA deletion Conflicting interpretations of pathogenicity rs727502845 GRCh38 Chromosome 9, 105573745: 105573745
21 FKTN NM_001079802.1(FKTN): c.-90delA deletion Conflicting interpretations of pathogenicity rs727502845 GRCh37 Chromosome 9, 108336026: 108336026
22 FKTN NM_001079802.1(FKTN): c.1159G> A (p.Gly387Arg) single nucleotide variant Uncertain significance rs148975262 GRCh37 Chromosome 9, 108382329: 108382329
23 FKTN NM_001079802.1(FKTN): c.1159G> A (p.Gly387Arg) single nucleotide variant Uncertain significance rs148975262 GRCh38 Chromosome 9, 105620048: 105620048
24 FKTN NM_001079802.1(FKTN): c.*4375_*4376ins3062 insertion Pathogenic GRCh37 Chromosome 9, 108401920: 108401921
25 FKTN NM_001079802.1(FKTN): c.*4375_*4376ins3062 insertion Pathogenic GRCh38 Chromosome 9, 105639639: 105639640
26 FKTN NM_001079802.1(FKTN): c.607C> T (p.Arg203Ter) single nucleotide variant Pathogenic rs746763506 GRCh38 Chromosome 9, 105604452: 105604452
27 FKTN NM_001079802.1(FKTN): c.607C> T (p.Arg203Ter) single nucleotide variant Pathogenic rs746763506 GRCh37 Chromosome 9, 108366733: 108366733
28 FKTN NM_001079802.1(FKTN): c.681G> A (p.Leu227=) single nucleotide variant Conflicting interpretations of pathogenicity rs142604625 GRCh37 Chromosome 9, 108370133: 108370133
29 FKTN NM_001079802.1(FKTN): c.681G> A (p.Leu227=) single nucleotide variant Conflicting interpretations of pathogenicity rs142604625 GRCh38 Chromosome 9, 105607852: 105607852
30 FKTN NM_001079802.1(FKTN): c.330dupT (p.Thr111Tyrfs) duplication Pathogenic/Likely pathogenic rs886042245 GRCh37 Chromosome 9, 108363590: 108363590
31 FKTN NM_001079802.1(FKTN): c.330dupT (p.Thr111Tyrfs) duplication Pathogenic/Likely pathogenic rs886042245 GRCh38 Chromosome 9, 105601309: 105601309
32 FKTN NM_001079802.1(FKTN): c.456_457delAC (p.Ser154Trpfs) deletion Pathogenic rs886042664 GRCh37 Chromosome 9, 108366582: 108366583
33 FKTN NM_001079802.1(FKTN): c.456_457delAC (p.Ser154Trpfs) deletion Pathogenic rs886042664 GRCh38 Chromosome 9, 105604301: 105604302
34 FKTN NM_001079802.1(FKTN): c.374G> T (p.Gly125Val) single nucleotide variant Uncertain significance rs142783718 GRCh37 Chromosome 9, 108366500: 108366500
35 FKTN NM_001079802.1(FKTN): c.374G> T (p.Gly125Val) single nucleotide variant Uncertain significance rs142783718 GRCh38 Chromosome 9, 105604219: 105604219
36 FKTN NM_001079802.1(FKTN): c.*42delA deletion Uncertain significance rs886063321 GRCh37 Chromosome 9, 108397587: 108397587
37 FKTN NM_001079802.1(FKTN): c.*42delA deletion Uncertain significance rs886063321 GRCh38 Chromosome 9, 105635306: 105635306
38 FKTN NM_001079802.1(FKTN): c.*324G> C single nucleotide variant Uncertain significance rs536822992 GRCh37 Chromosome 9, 108397869: 108397869
39 FKTN NM_001079802.1(FKTN): c.*324G> C single nucleotide variant Uncertain significance rs536822992 GRCh38 Chromosome 9, 105635588: 105635588
40 FKTN NM_001079802.1(FKTN): c.*1017A> G single nucleotide variant Uncertain significance rs886063324 GRCh37 Chromosome 9, 108398562: 108398562
41 FKTN NM_001079802.1(FKTN): c.*1017A> G single nucleotide variant Uncertain significance rs886063324 GRCh38 Chromosome 9, 105636281: 105636281
42 FKTN NM_001079802.1(FKTN): c.*1249C> T single nucleotide variant Uncertain significance rs79589823 GRCh37 Chromosome 9, 108398794: 108398794
43 FKTN NM_001079802.1(FKTN): c.*1249C> T single nucleotide variant Uncertain significance rs79589823 GRCh38 Chromosome 9, 105636513: 105636513
44 FKTN NM_001079802.1(FKTN): c.*1276C> T single nucleotide variant Uncertain significance rs886063325 GRCh37 Chromosome 9, 108398821: 108398821
45 FKTN NM_001079802.1(FKTN): c.*1276C> T single nucleotide variant Uncertain significance rs886063325 GRCh38 Chromosome 9, 105636540: 105636540
46 FKTN NM_001079802.1(FKTN): c.*1681G> A single nucleotide variant Uncertain significance rs886063327 GRCh37 Chromosome 9, 108399226: 108399226
47 FKTN NM_001079802.1(FKTN): c.*1681G> A single nucleotide variant Uncertain significance rs886063327 GRCh38 Chromosome 9, 105636945: 105636945
48 FKTN NM_001079802.1(FKTN): c.*2265T> C single nucleotide variant Uncertain significance rs76003803 GRCh37 Chromosome 9, 108399810: 108399810
49 FKTN NM_001079802.1(FKTN): c.*2265T> C single nucleotide variant Uncertain significance rs76003803 GRCh38 Chromosome 9, 105637529: 105637529
50 FKTN NM_001079802.1(FKTN): c.*2508G> T single nucleotide variant Uncertain significance rs886063330 GRCh38 Chromosome 9, 105637772: 105637772

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

7
# 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

Pathways related to Muscular Dystrophy-Dystroglycanopathy , Type a, 4 according to KEGG:

37
# Name Kegg Source Accession
1 Mannose type O-glycan biosynthesis hsa00515

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:

# 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 9.8 DMD FKRP FKTN LARGE1 POMGNT1
4 Golgi membrane GO:0000139 9.67 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 10.02 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)
# 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 9.56 DMD FKTN ITGA7 LAMA2
4 muscle cell cellular homeostasis GO:0046716 9.52 DMD LARGE1
5 mannosylation GO:0097502 9.51 POMT1 POMT2
6 skeletal muscle tissue regeneration GO:0043403 9.5 DAG1 DMD LARGE1
7 ER-associated misfolded protein catabolic process GO:0071712 9.49 POMT1 POMT2
8 response to denervation involved in regulation of muscle adaptation GO:0014894 9.48 DAG1 DMD
9 glycoprotein biosynthetic process GO:0009101 9.46 FKRP LARGE1
10 Schwann cell differentiation GO:0014037 9.43 DAG1 LAMA2
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:

# 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 9.43 DAG1 DMD
3 mannosyltransferase activity GO:0000030 9.4 POMT1 POMT2
4 vinculin binding GO:0017166 9.37 DAG1 DMD
5 dystroglycan binding GO:0002162 9.32 DAG1 DMD
6 dolichyl-phosphate-mannose-protein mannosyltransferase activity GO:0004169 9.16 POMT1 POMT2
7 acetylglucosaminyltransferase activity GO:0008375 9.13 LARGE1 POMGNT1 POMGNT2
8 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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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