MDDGA4
MCID: MSC037
MIFTS: 57

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

Categories: Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare 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 75 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 lissencephaly and muscular dystrophy, congenital, lmna-related, 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

Disease Ontology : 12 A congenital muscular dystrophy that is characterized by muscle weakness, failure to thrive, severe intellectual and developmental disability, impaired vision and cardiac abnormalities and has material basis in mutation in the FKTN gene that produces the fukutin protein.

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 : 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.

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 C, 15 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 Muscular Dystrophy-Dystroglycanopathy , Type C, 8

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

(show all 49)
# Related Disease Score Top Affiliating Genes
1 lissencephaly 30.1 DAG1 FKRP FKTN
2 muscular dystrophy, congenital, lmna-related 29.5 DAG1 DMD FKRP FKTN LAMA2 POMGNT1
3 walker-warburg syndrome 29.0 DAG1 DMD FKRP FKTN LAMA2 LARGE1
4 muscular dystrophy 29.0 DAG1 DMD FKRP FKTN ITGA7 LAMA2
5 muscle eye brain disease 28.9 DAG1 FKRP FKTN LARGE1 POMGNT1 POMGNT2
6 fukuyama type muscular dystrophy 12.1
7 muscular dystrophy, congenital, merosin-positive 11.4
8 hyperekplexia 10.2
9 epilepsy 10.2
10 leigh syndrome 10.2
11 microcephaly 10.2
12 polymicrogyria 10.2
13 congenital muscular dystrophy type 1a 10.2
14 muscular dystrophy, duchenne type 10.2
15 polyglucosan body myopathy 1 with or without immunodeficiency 10.1 DMD FKRP
16 creatine phosphokinase, elevated serum 10.1 DMD LAMA2
17 muscular dystrophy, limb-girdle, autosomal recessive 7 10.1 DMD FKRP
18 congenital muscular dystrophy without intellectual disability 10.1 FKRP FKTN POMT1
19 myopathy, x-linked, with excessive autophagy 10.1 DMD LAMA2
20 muscular dystrophy, limb-girdle, autosomal recessive 6 10.1 DMD FKRP
21 muscular dystrophy-dystroglycanopathy , type c, 1 10.0 POMT1 POMT2
22 familial isolated dilated cardiomyopathy 10.0 DMD FKTN
23 muscular dystrophy-dystroglycanopathy , type c, 2 10.0 POMT1 POMT2
24 congenital nervous system abnormality 10.0 FKTN POMGNT1 POMT1
25 isolated hyperckemia 10.0 DMD FKRP LAMA2
26 muscular dystrophy, becker type 10.0 DMD FKTN LAMA2
27 autosomal recessive limb-girdle muscular dystrophy 10.0 DMD FKRP POMT1
28 muscular dystrophy-dystroglycanopathy , type c, 5 10.0 FKRP LAMA2 POMGNT2
29 miyoshi muscular dystrophy 10.0 DMD LAMA2
30 glaucoma 3, primary congenital, a 10.0 POMT1 POMT2
31 rigid spine muscular dystrophy 1 9.9 DMD LAMA2
32 autosomal recessive limb-girdle muscular dystrophy type 2l 9.9 FKRP FKTN POMT1 POMT2
33 muscular dystrophy-dystroglycanopathy , type c, 4 9.9 FKRP FKTN POMT1 POMT2
34 congenital muscular dystrophy with cerebellar involvement 9.9 FKRP POMGNT1 POMT1 POMT2
35 cardiomyopathy, dilated, 1d 9.8 DAG1 DMD LAMA2
36 cardiomyopathy, dilated, 1a 9.8 DAG1 DMD LAMA2
37 congenital muscular dystrophy with intellectual disability 9.8 FKRP LARGE1 POMT1 POMT2
38 cardiomyopathy, dilated, 1b 9.7 DAG1 DMD FKTN LAMA2
39 muscular dystrophy, congenital merosin-deficient, 1a 9.7 DAG1 DMD FKTN LAMA2
40 ablepharon-macrostomia syndrome 9.7 FKRP FKTN LARGE1 POMGNT1 POMT1
41 limb-girdle muscular dystrophy 9.7 DMD FKRP FKTN LAMA2 POMGNT1 POMT1
42 muscular dystrophy, congenital, 1b 9.6 DAG1 DMD FKRP FKTN LAMA2
43 muscle tissue disease 9.6 DAG1 DMD FKRP FKTN LAMA2
44 dilated cardiomyopathy 9.6 DAG1 DMD FKRP FKTN LAMA2
45 muscular dystrophy-dystroglycanopathy 9.4 DAG1 FKRP POMGNT1 POMGNT2 POMT1 POMT2
46 muscular disease 9.0 DAG1 DMD FKRP FKTN ITGA7 LAMA2
47 muscular dystrophy-dystroglycanopathy , type b, 5 9.0 DAG1 DMD FKRP FKTN LAMA2 POMGNT1
48 muscular dystrophy-dystroglycanopathy , type b, 6 8.9 DAG1 DMD FKRP FKTN LAMA2 LARGE1
49 muscular dystrophy-dystroglycanopathy , type a, 1 8.7 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 61)
# 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 dilated cardiomyopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001644
21 mask-like facies 59 32 hallmark (90%) Very frequent (99-80%) HP:0000298
22 ventriculomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0002119
23 glaucoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000501
24 retinal dysplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0007973
25 camptodactyly of finger 59 32 frequent (33%) Frequent (79-30%) HP:0100490
26 plagiocephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001357
27 aplasia/hypoplasia of the corpus callosum 59 32 occasional (7.5%) Occasional (29-5%) HP:0007370
28 weak cry 59 32 frequent (33%) Frequent (79-30%) HP:0001612
29 muscular dystrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0003560
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 spinal rigidity 32 HP:0003306
42 cerebellar hypoplasia 32 HP:0001321
43 microphthalmia 32 HP:0000568
44 retinal detachment 32 HP:0000541
45 areflexia 32 HP:0001284
46 pulmonic stenosis 32 HP:0001642
47 holoprosencephaly 32 occasional (7.5%) HP:0001360
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 10.11 DAG1 DMD FKRP FKTN ITGA7 LAMA2
2 growth/size/body region MP:0005378 10.07 DAG1 DMD FKRP FKTN ITGA7 LAMA2
3 cellular MP:0005384 10.06 DAG1 DMD FKRP FKTN ITGA7 LAMA2
4 mortality/aging MP:0010768 10 DAG1 DMD FKRP FKTN ITGA7 LAMA2
5 cardiovascular system MP:0005385 9.98 DAG1 DMD FKRP ITGA7 LARGE1 POMGNT1
6 homeostasis/metabolism MP:0005376 9.97 DAG1 DMD FKRP FKTN ITGA7 LAMA2
7 muscle MP:0005369 9.81 DAG1 DMD FKRP FKTN ITGA7 LAMA2
8 nervous system MP:0003631 9.7 DAG1 DMD FKRP FKTN ITGA7 LAMA2
9 vision/eye MP:0005391 9.1 DAG1 DMD FKRP LARGE1 POMGNT1 POMT1

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 top 50) (show all 51)
# Title Authors Year
1
National registry of patients with Fukuyama congenital muscular dystrophy in Japan. ( 30220444 )
2018
2
Renal dysfunction is rare in Fukuyama congenital muscular dystrophy. ( 30077507 )
2018
3
Novel FKRP mutations in a Japanese MDC1C sibship clinically diagnosed with Fukuyama congenital muscular dystrophy. ( 28629604 )
2017
4
Deep-intronic variant of fukutin is the most prevalent point mutation of Fukuyama congenital muscular dystrophy in Japan. ( 28680109 )
2017
5
Spinal fusion in a patient with Fukuyama congenital muscular dystrophy. ( 28318781 )
2017
6
Spinal correction in patients with Fukuyama congenital muscular dystrophy. ( 28325699 )
2017
7
The gross motor function measure is valid for Fukuyama congenital muscular dystrophy. ( 27818010 )
2017
8
Respiratory management of patients with Fukuyama congenital muscular dystrophy. ( 26363734 )
2016
9
Fukutin mutations in Fukuyama congenital muscular dystrophy do not cause noncompaction. ( 27716553 )
2016
10
Founder mutation causes classical Fukuyama congenital muscular dystrophy (FCMD) in Chinese patients. ( 25814170 )
2015
11
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
12
Novel mutation in the fukutin gene in an Egyptian family with Fukuyama congenital muscular dystrophy and microcephaly. ( 24530477 )
2014
13
Leigh syndrome with Fukuyama congenital muscular dystrophy: A case report. ( 24113355 )
2013
14
Peripheral nerve involvement in fukuyama congenital muscular dystrophy: a case report. ( 22378666 )
2013
15
A Portuguese case of Fukuyama congenital muscular dystrophy caused by a multi-exonic duplication in the fukutin gene. ( 23582336 )
2013
16
MRI findings in Fukuyama congenital muscular dystrophy: a rare case report. ( 22553003 )
2012
17
Severe muscle damage following viral infection in patients with Fukuyama congenital muscular dystrophy. ( 21726969 )
2012
18
A case of Fukuyama congenital muscular dystrophy associated with negative electroretinograms. ( 21191726 )
2010
19
Fukutin gene retrotransposal insertion in a non-Japanese Fukuyama congenital muscular dystrophy (FCMD) patient. ( 19842201 )
2009
20
Clinical and genetic analysis of a Korean patient with Fukuyama congenital muscular dystrophy. ( 19324374 )
2009
21
Reduced expression of sarcospan in muscles of Fukuyama congenital muscular dystrophy. ( 18830929 )
2008
22
[Fukuyama congenital muscular dystrophy and related alpha-dystroglycanopathies]. ( 18975603 )
2008
23
[Fukuyama congenital muscular dystrophy--history and perspectives]. ( 18232332 )
2008
24
Altered glycosylation of alpha-dystroglycan in neurons of Fukuyama congenital muscular dystrophy brains. ( 16466646 )
2006
25
Prenatal diagnosis of Fukuyama congenital muscular dystrophy. ( 16570239 )
2006
26
Identification of a functional CRE in the promoter of Fukuyama congenital muscular dystrophy gene fukutin. ( 15893581 )
2005
27
Congenital muscular dystrophy with characteristic radiological findings similar to those with Fukuyama congenital muscular dystrophy. ( 15626844 )
2004
28
A rapid diagnostic method for a retrotransposal insertional mutation into the FCMD gene in Japanese patients with Fukuyama congenital muscular dystrophy. ( 15103718 )
2004
29
Fukutin expression in glial cells and neurons: implication in the brain lesions of Fukuyama congenital muscular dystrophy. ( 12172906 )
2002
30
The Fukuyama congenital muscular dystrophy story. ( 10734260 )
2000
31
Genetic heterogeneity in three Chinese children with Fukuyama congenital muscular dystrophy. ( 10714585 )
2000
32
Analysis of genotype and phenotype in fukuyama congenital muscular dystrophy. ( 11024205 )
2000
33
Haplotype-phenotype correlation in Fukuyama congenital muscular dystrophy. ( 10817652 )
2000
34
Immature astrocytes in Fukuyama congenital muscular dystrophy: an immunohistochemical study. ( 10029257 )
1999
35
Fukuyama congenital muscular dystrophy: a neuroradiologic review. ( 9562058 )
1998
36
Pial-glial barrier abnormalities in fetuses with Fukuyama congenital muscular dystrophy. ( 9071488 )
1997
37
Early ultrastructural changes in the central nervous system in Fukuyama congenital muscular dystrophy. ( 9206000 )
1997
38
Localization of laminin subunits in the central nervous system in Fukuyama congenital muscular dystrophy: an immunohistochemical investigation. ( 9255393 )
1997
39
Electron microscopic examination of basal lamina in Fukuyama congenital muscular dystrophy. ( 9185184 )
1997
40
Brain MR in Fukuyama congenital muscular dystrophy. ( 8730178 )
1996
41
Cerebellar MR in Fukuyama congenital muscular dystrophy: polymicrogyria with cystic lesions. ( 7847224 )
1994
42
Clinical spectrum and genetic studies of Fukuyama congenital muscular dystrophy. ( 7856660 )
1994
43
Dystrophin-associated glycoprotein and dystrophin co-localisation at sarcolemma in Fukuyama congenital muscular dystrophy. ( 8102757 )
1993
44
Fukuyama Congenital Muscular Dystrophy ( 20301385 )
1993
45
Possible influences on the expression of X chromosome-linked dystrophin abnormalities by heterozygosity for autosomal recessive Fukuyama congenital muscular dystrophy. ( 1731332 )
1992
46
Cerebellar micropolygyria in Fukuyama congenital muscular dystrophy: observations in fetal and pediatric cases. ( 2092587 )
1990
47
Fukuyama congenital muscular dystrophy in two Australian female siblings. ( 2227144 )
1990
48
Cortical dysplasia in Fukuyama congenital muscular dystrophy (FCMD): a Golgi and angioarchitectonic analysis. ( 2457291 )
1988
49
Cortical dysplasia in a 23-week fetus with Fukuyama congenital muscular dystrophy (FCMD). ( 3314312 )
1987
50
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:

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 209)
# 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 NM_001079802.1(FKTN): c.373G> A (p.Gly125Ser) single nucleotide variant Benign rs34006675 GRCh37 Chromosome 9, 108366499: 108366499
14 FKTN NM_001079802.1(FKTN): c.373G> A (p.Gly125Ser) single nucleotide variant Benign rs34006675 GRCh38 Chromosome 9, 105604218: 105604218
15 FKTN FKTN, 473-BP DEL, NT5370 deletion Pathogenic
16 FKTN NM_001079802.1(FKTN): c.340G> A (p.Ala114Thr) single nucleotide variant Uncertain significance rs119463995 GRCh37 Chromosome 9, 108363600: 108363600
17 FKTN NM_001079802.1(FKTN): c.340G> A (p.Ala114Thr) single nucleotide variant Uncertain significance rs119463995 GRCh38 Chromosome 9, 105601319: 105601319
18 FKTN NM_001079802.1(FKTN): c.509C> A (p.Ala170Glu) single nucleotide variant Pathogenic rs119464997 GRCh37 Chromosome 9, 108366635: 108366635
19 FKTN NM_001079802.1(FKTN): c.509C> A (p.Ala170Glu) single nucleotide variant Pathogenic rs119464997 GRCh38 Chromosome 9, 105604354: 105604354
20 FKTN NM_001079802.1(FKTN): c.1112A> G (p.Tyr371Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs119464998 GRCh37 Chromosome 9, 108382282: 108382282
21 FKTN NM_001079802.1(FKTN): c.1112A> G (p.Tyr371Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs119464998 GRCh38 Chromosome 9, 105620001: 105620001
22 FKTN NM_001079802.1(FKTN): c.919C> T (p.Arg307Ter) single nucleotide variant Pathogenic/Likely pathogenic rs267606814 GRCh37 Chromosome 9, 108380248: 108380248
23 FKTN NM_001079802.1(FKTN): c.919C> T (p.Arg307Ter) single nucleotide variant Pathogenic/Likely pathogenic rs267606814 GRCh38 Chromosome 9, 105617967: 105617967
24 FKTN NM_006731.2(FKTN): c.1297A> G (p.Thr433Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs141918432 GRCh37 Chromosome 9, 108397456: 108397456
25 FKTN NM_006731.2(FKTN): c.1297A> G (p.Thr433Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs141918432 GRCh38 Chromosome 9, 105635175: 105635175
26 FKTN NM_006731.2(FKTN): c.166-4A> G single nucleotide variant Conflicting interpretations of pathogenicity rs193922689 GRCh37 Chromosome 9, 108363422: 108363422
27 FKTN NM_006731.2(FKTN): c.166-4A> G single nucleotide variant Conflicting interpretations of pathogenicity rs193922689 GRCh38 Chromosome 9, 105601141: 105601141
28 FKTN NM_001079802.1(FKTN): c.1026C> A (p.Leu342=) single nucleotide variant Benign/Likely benign rs17309806 GRCh37 Chromosome 9, 108380355: 108380355
29 FKTN NM_001079802.1(FKTN): c.1026C> A (p.Leu342=) single nucleotide variant Benign/Likely benign rs17309806 GRCh38 Chromosome 9, 105618074: 105618074
30 FKTN NM_001079802.1(FKTN): c.166C> T (p.Arg56Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs41277797 GRCh37 Chromosome 9, 108363426: 108363426
31 FKTN NM_001079802.1(FKTN): c.166C> T (p.Arg56Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs41277797 GRCh38 Chromosome 9, 105601145: 105601145
32 FKTN NM_001079802.1(FKTN): c.608G> A (p.Arg203Gln) single nucleotide variant Benign/Likely benign rs34787999 GRCh37 Chromosome 9, 108366734: 108366734
33 FKTN NM_001079802.1(FKTN): c.608G> A (p.Arg203Gln) single nucleotide variant Benign/Likely benign rs34787999 GRCh38 Chromosome 9, 105604453: 105604453
34 FKTN NM_001079802.1(FKTN): c.642dupT (p.Asp215Terfs) duplication Pathogenic/Likely pathogenic rs398123557 GRCh37 Chromosome 9, 108366768: 108366768
35 FKTN NM_001079802.1(FKTN): c.642dupT (p.Asp215Terfs) duplication Pathogenic/Likely pathogenic rs398123557 GRCh38 Chromosome 9, 105604487: 105604487
36 FKTN NM_001079802.1(FKTN): c.-90delA deletion Conflicting interpretations of pathogenicity rs727502845 GRCh38 Chromosome 9, 105573745: 105573745
37 FKTN NM_001079802.1(FKTN): c.-90delA deletion Conflicting interpretations of pathogenicity rs727502845 GRCh37 Chromosome 9, 108336026: 108336026
38 FKTN NM_001079802.1(FKTN): c.1159G> A (p.Gly387Arg) single nucleotide variant Uncertain significance rs148975262 GRCh37 Chromosome 9, 108382329: 108382329
39 FKTN NM_001079802.1(FKTN): c.1159G> A (p.Gly387Arg) single nucleotide variant Uncertain significance rs148975262 GRCh38 Chromosome 9, 105620048: 105620048
40 FKTN NM_001079802.1(FKTN): c.*4375_*4376ins3062 insertion Pathogenic GRCh37 Chromosome 9, 108401920: 108401921
41 FKTN NM_001079802.1(FKTN): c.*4375_*4376ins3062 insertion Pathogenic GRCh38 Chromosome 9, 105639639: 105639640
42 FKTN NM_001079802.1(FKTN): c.607C> T (p.Arg203Ter) single nucleotide variant Pathogenic rs746763506 GRCh38 Chromosome 9, 105604452: 105604452
43 FKTN NM_001079802.1(FKTN): c.607C> T (p.Arg203Ter) single nucleotide variant Pathogenic rs746763506 GRCh37 Chromosome 9, 108366733: 108366733
44 FKTN NM_001079802.1(FKTN): c.681G> A (p.Leu227=) single nucleotide variant Conflicting interpretations of pathogenicity rs142604625 GRCh37 Chromosome 9, 108370133: 108370133
45 FKTN NM_001079802.1(FKTN): c.681G> A (p.Leu227=) single nucleotide variant Conflicting interpretations of pathogenicity rs142604625 GRCh38 Chromosome 9, 105607852: 105607852
46 FKTN NM_001079802.1(FKTN): c.330dupT (p.Thr111Tyrfs) duplication Pathogenic/Likely pathogenic rs886042245 GRCh37 Chromosome 9, 108363590: 108363590
47 FKTN NM_001079802.1(FKTN): c.330dupT (p.Thr111Tyrfs) duplication Pathogenic/Likely pathogenic rs886042245 GRCh38 Chromosome 9, 105601309: 105601309
48 FKTN NM_001079802.1(FKTN): c.456_457delAC (p.Ser154Trpfs) deletion Pathogenic rs886042664 GRCh37 Chromosome 9, 108366582: 108366583
49 FKTN NM_001079802.1(FKTN): c.456_457delAC (p.Ser154Trpfs) deletion Pathogenic rs886042664 GRCh38 Chromosome 9, 105604301: 105604302
50 FKTN NM_001079802.1(FKTN): c.374G> T (p.Gly125Val) single nucleotide variant Uncertain significance rs142783718 GRCh37 Chromosome 9, 108366500: 108366500

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 9.97 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 integral component of Golgi membrane GO:0030173 9.33 FKTN LARGE1 POMGNT1
5 costamere GO:0043034 9.26 DAG1 DMD
6 sarcolemma GO:0042383 9.26 DAG1 DMD FKRP LAMA2
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 12)
# 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 9.51 DMD LARGE1
5 skeletal muscle tissue regeneration GO:0043403 9.5 DAG1 DMD LARGE1
6 mannosylation GO:0097502 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 protein O-linked glycosylation GO:0006493 9.43 FKTN LARGE1 POMGNT1 POMGNT2 POMT1 POMT2
11 positive regulation of protein O-linked glycosylation GO:1904100 9.37 POMT1 POMT2
12 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 9.87 FKRP FKTN LARGE1 POMGNT1 POMGNT2 POMT1
2 manganese ion binding GO:0030145 9.43 LARGE1 POMGNT1
3 structural constituent of muscle GO:0008307 9.4 DAG1 DMD
4 vinculin binding GO:0017166 9.37 DAG1 DMD
5 transferase activity, transferring glycosyl groups GO:0016757 9.35 LARGE1 POMGNT1 POMGNT2 POMT1 POMT2
6 acetylglucosaminyltransferase activity GO:0008375 9.33 LARGE1 POMGNT1 POMGNT2
7 dolichyl-phosphate-mannose-protein mannosyltransferase activity GO:0004169 9.26 POMT1 POMT2
8 dystroglycan binding GO:0002162 8.8 DAG1 DMD FKRP

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
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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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