MCID: MSC037
MIFTS: 57

Muscular Dystrophy-Dystroglycanopathy , Type a, 4

Categories: Genetic diseases, Rare diseases, Mental diseases, Muscle diseases, Neuronal diseases, Eye diseases, Metabolic diseases, Fetal 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 53 13
Fukuyama Congenital Muscular Dystrophy 53 12 23 24 55 36 28 51 14
Fcmd 53 23 24 55 71
Fukuyama Type Congenital Muscular Dystrophy 23 24 69
Mddga4 53 71
Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies, Type A4 28
Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies A4 71
Muscular Dystrophy, Congenital, with Central Nervous System Involvement 24
Muscular Dystrophy, Congenital Progressive, with Mental Retardation 24
Walker-Warburg Syndrome or Muscle-Eye-Brain Disease, Fktn-Related 53
Muscular Dystrophy, Congenital, Fukuyama Type 24
Fukuyama Congenital Muscular Dystrophy; Fcmd 53
Congenital Muscular Dystrophy, Fukuyama Type 55
Congenital Muscular Dystrophy Fukuyama Type 71
Cerebromuscular Dystrophy, Fukuyama Type 24
Cerebromuscular Dystrophy Fukuyama Type 71
Polymicrogyria with Muscular Dystrophy 24
Micropolygyria with Muscular Dystrophy 71
Muscle-Eye-Brain Disease Fktn-Related 71
Walker-Warburg Syndrome Fktn-Related 71
Fukuyama Muscular Dystrophy 24
Fukuyama Syndrome 24
Fukuyama Cmd 24

Characteristics:

Orphanet epidemiological data:

55
congenital muscular dystrophy, fukuyama type
Prevalence: 1-9/100000 (Japan);

OMIM:

53
Inheritance:
autosomal recessive

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


HPO:

31
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 : 53 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 fukuyama type muscular dystrophy and muscular dystrophy, congenital, lmna-related, 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 Mannose type O-glycan biosynthesis and Degradation of the extracellular matrix. Affiliated tissues include eye, brain and skeletal muscle, and related phenotypes are behavior/neurological and cellular

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 : 24 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 41)
# Related Disease Score Top Affiliating Genes
1 fukuyama type muscular dystrophy 32.0 FKRP FKTN
2 muscular dystrophy, congenital, lmna-related 28.8 DAG1 FKRP FKTN LAMA2 POMGNT1 POMT1
3 muscular dystrophy 26.6 DAG1 DMD FKRP FKTN ITGA7 LAMA2
4 muscular dystrophy, congenital, merosin-positive 11.2
5 isolated hyperckemia 10.2 DMD FKRP
6 muscular dystrophy, limb-girdle, type 2f 10.2 DMD FKRP
7 congenital muscular dystrophy without intellectual disability 10.1 FKRP FKTN POMT1
8 myopathy, x-linked, with excessive autophagy 10.1 DMD LAMA2
9 muscular dystrophy-dystroglycanopathy , type c, 1 10.1 POMT1 POMT2
10 muscular dystrophy-dystroglycanopathy , type c, 2 10.1 POMT1 POMT2
11 congenital nervous system abnormality 10.1 FKTN POMGNT1 POMT1
12 muscular dystrophy, limb-girdle, type 2b 10.1 DMD FKRP
13 muscular dystrophy-dystroglycanopathy , type c, 4 10.0 FKRP FKTN POMT2
14 limb-girdle muscular dystrophy 10.0 DMD FKRP FKTN
15 autosomal recessive limb-girdle muscular dystrophy 10.0 DMD FKRP POMT1
16 muscular dystrophy-dystroglycanopathy , type c, 5 10.0 FKRP LAMA2 POMGNT2
17 familial isolated dilated cardiomyopathy 10.0 DMD FKTN
18 myopathy, congenital 9.9 DMD ITGA7
19 muscular dystrophy, limb-girdle, type 2c 9.8 DAG1 DMD
20 muscular dystrophy, limb-girdle, type 2l 9.8 FKRP FKTN POMT1 POMT2
21 rigid spine muscular dystrophy 1 9.8 DMD LAMA2
22 congenital muscular dystrophy with cerebellar involvement 9.8 FKRP POMGNT1 POMT1 POMT2
23 lissencephaly 9.7 DAG1 FKRP FKTN
24 muscular dystrophy-dystroglycanopathy 9.7 FKRP POMGNT1 POMT1 POMT2
25 cardiomyopathy, dilated, 1d 9.6 DAG1 DMD LAMA2
26 cardiomyopathy, dilated, 1a 9.6 DAG1 DMD LAMA2
27 myopathy 9.5 DMD FKRP ITGA7 LAMA2
28 congenital muscular dystrophy with intellectual disability 9.5 FKRP LARGE1 POMT1 POMT2
29 ablepharon-macrostomia syndrome 9.5 FKRP FKTN LARGE1 POMGNT1 POMT1
30 cardiomyopathy, dilated, 1b 9.5 DAG1 DMD FKTN LAMA2
31 muscular dystrophy, congenital merosin-deficient, 1a 9.4 DAG1 DMD FKTN LAMA2
32 muscular dystrophy, becker type 9.4 DAG1 DMD FKTN LAMA2
33 muscular dystrophy, congenital, 1b 9.2 DAG1 DMD FKRP FKTN LAMA2
34 muscle tissue disease 9.2 DAG1 DMD FKRP FKTN LAMA2
35 dilated cardiomyopathy 9.2 DAG1 DMD FKRP FKTN LAMA2
36 muscular dystrophy, duchenne type 9.1 DAG1 DMD FKTN ITGA7 LAMA2
37 muscular dystrophy-dystroglycanopathy , type a, 1 9.1 FKRP FKTN LARGE1 POMGNT1 POMT1 POMT2
38 muscular dystrophy-dystroglycanopathy , type b, 5 8.0 DAG1 DMD FKRP FKTN LAMA2 POMGNT1
39 muscular dystrophy-dystroglycanopathy , type b, 6 7.9 DAG1 DMD FKRP FKTN LAMA2 LARGE1
40 walker-warburg syndrome 7.5 DAG1 DMD FKRP FKTN LAMA2 LARGE1
41 muscle eye brain disease 7.5 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:

53
Neurologic Central Nervous System:
seizures
hydrocephalus
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:

55 31 (show top 50) (show all 60)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 55 31 frequent (33%) Frequent (79-30%) HP:0001250
2 pectus excavatum 55 31 frequent (33%) Frequent (79-30%) HP:0000767
3 hydrocephalus 55 31 frequent (33%) Frequent (79-30%) HP:0000238
4 muscular hypotonia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001252
5 gait disturbance 55 31 hallmark (90%) Very frequent (99-80%) HP:0001288
6 eeg abnormality 55 31 frequent (33%) Frequent (79-30%) HP:0002353
7 cataract 55 31 occasional (7.5%) Occasional (29-5%) HP:0000518
8 global developmental delay 55 31 hallmark (90%) Very frequent (99-80%) HP:0001263
9 delayed speech and language development 55 31 hallmark (90%) Very frequent (99-80%) HP:0000750
10 visual impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0000505
11 optic atrophy 55 31 occasional (7.5%) Occasional (29-5%) HP:0000648
12 flexion contracture 55 31 Very frequent (99-80%) HP:0001371
13 myopathy 55 31 hallmark (90%) Very frequent (99-80%) HP:0003198
14 brachycephaly 55 31 frequent (33%) Frequent (79-30%) HP:0000248
15 intellectual disability, severe 55 31 hallmark (90%) Very frequent (99-80%) HP:0010864
16 emg abnormality 55 31 hallmark (90%) Very frequent (99-80%) HP:0003457
17 dolichocephaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0000268
18 intrauterine growth retardation 55 31 occasional (7.5%) Occasional (29-5%) HP:0001511
19 myopia 55 31 frequent (33%) Frequent (79-30%) HP:0000545
20 mask-like facies 55 31 hallmark (90%) Very frequent (99-80%) HP:0000298
21 ventriculomegaly 55 31 frequent (33%) Frequent (79-30%) HP:0002119
22 glaucoma 55 31 occasional (7.5%) Occasional (29-5%) HP:0000501
23 retinal dysplasia 55 31 occasional (7.5%) Occasional (29-5%) HP:0007973
24 camptodactyly of finger 55 31 frequent (33%) Frequent (79-30%) HP:0100490
25 plagiocephaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0001357
26 aplasia/hypoplasia of the corpus callosum 55 31 occasional (7.5%) Occasional (29-5%) HP:0007370
27 weak cry 55 31 frequent (33%) Frequent (79-30%) HP:0001612
28 muscular dystrophy 55 31 hallmark (90%) Very frequent (99-80%) HP:0003560
29 dilated cardiomyopathy 55 31 occasional (7.5%) Occasional (29-5%) HP:0001644
30 type ii lissencephaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0007260
31 hypoglycosylation of alpha-dystroglycan 55 31 hallmark (90%) Very frequent (99-80%) HP:0030046
32 muscle weakness 31 HP:0001324
33 agenesis of corpus callosum 31 HP:0001274
34 intellectual disability 31 HP:0001249
35 respiratory insufficiency 31 HP:0002093
36 scoliosis 31 HP:0002650
37 elevated serum creatine phosphokinase 31 HP:0003236
38 skeletal muscle atrophy 31 HP:0003202
39 strabismus 31 HP:0000486
40 atrial septal defect 31 HP:0001631
41 cerebellar hypoplasia 31 HP:0001321
42 microphthalmia 31 HP:0000568
43 retinal detachment 31 HP:0000541
44 areflexia 31 HP:0001284
45 pulmonic stenosis 31 HP:0001642
46 holoprosencephaly 31 occasional (7.5%) HP:0001360
47 spinal rigidity 31 HP:0003306
48 pachygyria 31 HP:0001302
49 polymicrogyria 31 HP:0002126
50 encephalocele 31 HP:0002084

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


seizures

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

43
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.03 DMD LAMA2 FKRP LARGE1 FKTN DAG1
2 cellular MP:0005384 10.02 DMD LAMA2 FKRP FKTN DAG1 ITGA7
3 growth/size/body region MP:0005378 10.02 LAMA2 FKRP LARGE1 FKTN DAG1 ITGA7
4 cardiovascular system MP:0005385 9.95 DMD FKRP LARGE1 DAG1 ITGA7 POMGNT1
5 homeostasis/metabolism MP:0005376 9.91 DMD LAMA2 FKRP LARGE1 FKTN DAG1
6 mortality/aging MP:0010768 9.9 FKRP LARGE1 FKTN POMGNT1 DAG1 ITGA7
7 muscle MP:0005369 9.61 FKRP LARGE1 FKTN POMGNT1 DAG1 ITGA7
8 nervous system MP:0003631 9.32 LAMA2 FKRP LARGE1 FKTN POMGNT1 DAG1

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 28 FKTN
2 Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies, Type A4 28

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

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

38
Eye, Brain, Skeletal Muscle

Publications for Muscular Dystrophy-Dystroglycanopathy , Type a, 4

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

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

Variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 4

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

71
# 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 22)
# Gene Variation Type Significance SNP ID Assembly Location
1 FKTN NM_001079802.1(FKTN): c.642dupT (p.Asp215Terfs) duplication Pathogenic/Likely pathogenic rs398123557 GRCh37 Chromosome 9, 108366768: 108366768
2 FKTN NM_001079802.1(FKTN): c.*4375_*4376ins3062 insertion Pathogenic GRCh37 Chromosome 9, 108401920: 108401921
3 FKTN NM_006731.2(FKTN): c.*4392_*4393insAB185332.1 insertion Pathogenic
4 FKTN NM_001079802.1(FKTN): c.139C> T (p.Arg47Ter) single nucleotide variant Pathogenic rs119463990 GRCh37 Chromosome 9, 108358912: 108358912
5 FKTN NM_006731.2(FKTN): c.187_188delAT (p.Met63Valfs) deletion Pathogenic rs587777813 GRCh38 Chromosome 9, 105601166: 105601167
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_006731.2(FKTN): c.454dupT (p.Ser152Phefs) duplication Pathogenic rs587777748 GRCh38 Chromosome 9, 105604299: 105604299
9 FKTN NM_001079802.1(FKTN): c.346C> T (p.Gln116Ter) single nucleotide variant Pathogenic rs119463991 GRCh37 Chromosome 9, 108363606: 108363606
10 FKTN FKTN, 473-BP DEL, NT5370 deletion Pathogenic
11 FKTN NM_001079802.1(FKTN): c.509C> A (p.Ala170Glu) single nucleotide variant Pathogenic rs119464997 GRCh37 Chromosome 9, 108366635: 108366635
12 FKTN NM_001079802.1(FKTN): c.919C> T (p.Arg307Ter) single nucleotide variant Pathogenic/Likely pathogenic rs267606814 GRCh37 Chromosome 9, 108380248: 108380248
13 FKTN NM_001079802.1(FKTN): c.607C> T (p.Arg203Ter) single nucleotide variant Pathogenic rs746763506 GRCh38 Chromosome 9, 105604452: 105604452
14 FKTN NM_001079802.1(FKTN): c.330dupT (p.Thr111Tyrfs) duplication Pathogenic/Likely pathogenic rs886042245 GRCh37 Chromosome 9, 108363590: 108363590
15 FKTN NM_001079802.1(FKTN): c.456_457delAC (p.Ser154Trpfs) deletion Pathogenic rs886042664 GRCh37 Chromosome 9, 108366582: 108366583
16 FKTN NM_001079802.1(FKTN): c.109G> T (p.Gly37Ter) single nucleotide variant Likely pathogenic rs773884973 GRCh38 Chromosome 9, 105596601: 105596601
17 FKTN NM_001079802.1(FKTN): c.429delA (p.Asp144Ilefs) deletion Likely pathogenic rs1057516258 GRCh38 Chromosome 9, 105604274: 105604274
18 FKTN NM_001079802.1(FKTN): c.658_661delCAGC (p.Gln220Lysfs) deletion Likely pathogenic rs1057517160 GRCh38 Chromosome 9, 105607829: 105607832
19 FKTN NM_001079802.1(FKTN): c.770delC (p.Ala257Aspfs) deletion Likely pathogenic rs1057516966 GRCh37 Chromosome 9, 108370222: 108370222
20 FKTN NM_001079802.1(FKTN): c.780+1G> A single nucleotide variant Likely pathogenic rs370819786 GRCh37 Chromosome 9, 108370233: 108370233
21 FKTN NM_001079802.1(FKTN): c.1106delT (p.Phe369Serfs) deletion Likely pathogenic rs1057516999 GRCh37 Chromosome 9, 108382276: 108382276
22 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
# 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:

36
# 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 9.4 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....