MDDGA4
MCID: MSC037
MIFTS: 59

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 72 29 13
Fukuyama Congenital Muscular Dystrophy 57 12 25 43 58 36 29 54 6 15
Fcmd 57 25 43 58 72
Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies, Type A4 29 6
Fukuyama Type Congenital Muscular Dystrophy 43 70
Mddga4 57 72
Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies A4 72
Muscular Dystrophy, Congenital, with Central Nervous System Involvement 43
Muscular Dystrophy, Congenital Progressive, with Mental Retardation 43
Walker-Warburg Syndrome or Muscle-Eye-Brain Disease, Fktn-Related 57
Muscular Dystrophy, Congenital, Fukuyama Type 43
Fukuyama Congenital Muscular Dystrophy; Fcmd 57
Congenital Muscular Dystrophy, Fukuyama Type 58
Congenital Muscular Dystrophy Fukuyama Type 72
Cerebromuscular Dystrophy, Fukuyama Type 43
Cerebromuscular Dystrophy Fukuyama Type 72
Polymicrogyria with Muscular Dystrophy 43
Micropolygyria with Muscular Dystrophy 72
Muscle-Eye-Brain Disease Fktn-Related 72
Walker-Warburg Syndrome, Fktn-Related 29
Walker-Warburg Syndrome Fktn-Related 72
Fukuyama Muscular Dystrophy 43
Fukuyama Syndrome 43
Fukuyama Cmd 43

Characteristics:

Orphanet epidemiological data:

58
congenital muscular dystrophy, fukuyama type
Prevalence: 1-9/100000 (Japan);

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

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


HPO:

31
muscular dystrophy-dystroglycanopathy , type a, 4:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis


Summaries for Muscular Dystrophy-Dystroglycanopathy , Type a, 4

MedlinePlus Genetics : 43 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.Fukuyama congenital muscular dystrophy affects the skeletal muscles, which are muscles the body uses for movement. The first signs of the disorder appear in early infancy and include a weak cry, poor feeding, and weak muscle tone (hypotonia). Weakness of the facial muscles often leads to a distinctive facial appearance including droopy eyelids (ptosis) and an open mouth. In childhood, muscle weakness and joint deformities (contractures) restrict movement and interfere with the development of motor skills such as sitting, standing, and walking.Fukuyama congenital muscular dystrophy also impairs brain development. People with this condition have a brain abnormality called cobblestone lissencephaly, in which the surface of the brain develops a bumpy, irregular appearance (like that of cobblestones). These changes in the structure of the brain lead to significantly delayed development of speech and motor skills and moderate to severe intellectual disability. Social skills are less severely impaired. Most children with Fukuyama congenital muscular dystrophy are never able to stand or walk, although some can sit without support and slide across the floor in a seated position. More than half of all affected children also experience seizures.Other signs and symptoms of Fukuyama congenital muscular dystrophy include impaired vision, other eye abnormalities, and slowly progressive heart problems after age 10. As the disease progresses, affected people may develop swallowing difficulties that can lead to a bacterial lung infection called aspiration pneumonia. Because of the serious medical problems associated with Fukuyama congenital muscular dystrophy, most people with the disorder live only into late childhood or adolescence.

MalaCards based summary : Muscular Dystrophy-Dystroglycanopathy , Type a, 4, also known as fukuyama congenital muscular dystrophy, is related to congenital muscular dystrophy due to dystroglycanopathy and cardiomyopathy, dilated, 1x, 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 Metabolism. Affiliated tissues include brain, eye and skeletal muscle, and related phenotypes are gait disturbance and global developmental delay

Disease Ontology : 12 A congenital muscular dystrophy-dystroglycanopathy type A 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.

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) (Updated 05-Apr-2021)

KEGG : 36 Fukuyama congenital muscular dystrophy (FCMD) is one of the most common autosomal recessive disorders in Japan. It is characterized by severe muscular dystrophy associated with brain malformation. FCMD is caused by mutations in the fukutin gene. Clinical manifestations include neonatal hypotonia, seizures, and delayed motor and speech development.

UniProtKB/Swiss-Prot : 72 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
Muscular Dystrophy-Dystroglycanopathy , Type B, 15 Congenital Muscular Dystrophy-Dystroglycanopathy Type a
Congenital Muscular Dystrophy-Dystroglycanopathy Type A11 Congenital Muscular Dystrophy-Dystroglycanopathy Type A8
Congenital Muscular Dystrophy-Dystroglycanopathy Type A9 Congenital Muscular Dystrophy-Dystroglycanopathy A14
Congenital Muscular Dystrophy-Dystroglycanopathy A7 Congenital Muscular Dystrophy-Dystroglycanopathy Type A12
Congenital Muscular Dystrophy-Dystroglycanopathy Type A3 Congenital Muscular Dystrophy-Dystroglycanopathy Type A1
Congenital Muscular Dystrophy-Dystroglycanopathy Type A13 Congenital Muscular Dystrophy-Dystroglycanopathy Type A10
Congenital Muscular Dystrophy-Dystroglycanopathy Type A2 Congenital Muscular Dystrophy-Dystroglycanopathy Type A5
Congenital Muscular Dystrophy-Dystroglycanopathy Type A6

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

(show top 50) (show all 169)
# Related Disease Score Top Affiliating Genes
1 congenital muscular dystrophy due to dystroglycanopathy 31.0 FKRP CRPPA
2 cardiomyopathy, dilated, 1x 30.9 FKTN DAG1
3 hydrocephalus 30.8 POMT2 POMT1 POMGNT2 POMGNT1
4 muscular dystrophy, duchenne type 30.8 LAMA2 ITGA7 FKTN DMD DAG1
5 autosomal recessive disease 30.6 RNU4ATAC FKTN FKRP B3GNT2
6 muscular dystrophy-dystroglycanopathy , type a, 1 30.6 RXYLT1 POMT2 POMT1 LARGE1 FKTN FKRP
7 neuromuscular disease 30.5 LAMA2 FKRP DMD DAG1
8 gas gangrene 30.5 DMD DAG1
9 limb-girdle muscular dystrophy 30.5 POMT1 POMGNT1 LAMA2 FKTN FKRP
10 muscular dystrophy, becker type 30.4 LAMA2 FKTN FKRP DMD DAG1 B3GNT2
11 autosomal recessive limb-girdle muscular dystrophy type 2l 30.2 POMT2 POMT1 POMGNT1 FKTN FKRP DAG1
12 congenital muscular dystrophy-dystroglycanopathy type a2 30.1 POMT2 POMT1 DPM3
13 myopathy 30.0 POMT1 LAMA2 ITGA7 FKTN FKRP DPM3
14 dilated cardiomyopathy 29.9 LAMA2 ITGA7 FKTN FKRP DPM3 DMD
15 muscular dystrophy, congenital merosin-deficient, 1a 29.9 POMT2 POMT1 POMGNT1 LAMA2 ITGA7 FKTN
16 muscle eye brain disease 29.8 POMT2 POMT1 POMGNT2 POMGNT1 LARGE1 LAMA2
17 muscular disease 29.7 RNU4ATAC POMT1 POMGNT2 POMGNT1 LAMA2 FKTN
18 muscular dystrophy-dystroglycanopathy , type c, 1 29.6 POMT2 POMT1 POMGNT1 FKTN FKRP DPM3
19 lissencephaly 29.6 RXYLT1 POMT2 POMT1 POMGNT2 POMGNT1 LARGE1
20 walker-warburg syndrome 29.6 RXYLT1 POMT2 POMT1 POMGNT2 POMGNT1 LARGE2
21 muscular dystrophy, congenital, lmna-related 29.5 RXYLT1 POMT2 POMT1 POMGNT1 LARGE2 LAMA2
22 muscular dystrophy-dystroglycanopathy , type c, 5 29.5 POMT2 POMT1 POMGNT2 POMGNT1 LAMA2 FKTN
23 muscular dystrophy-dystroglycanopathy , type c, 4 29.4 POMT2 POMT1 POMGNT1 FKTN FKRP DPM3
24 cobblestone lissencephaly 29.4 RXYLT1 POMT2 POMT1 POMGNT2 POMGNT1 LARGE1
25 muscular dystrophy-dystroglycanopathy , type c, 2 29.3 POMT2 POMT1 POMGNT1 LARGE2 FKTN FKRP
26 muscular dystrophy-dystroglycanopathy , type b, 5 28.6 POMT2 POMT1 POMGNT2 POMGNT1 LARGE2 LAMA2
27 muscular dystrophy 28.5 RXYLT1 POMT2 POMT1 POMGNT2 POMGNT1 LARGE2
28 fukuyama type muscular dystrophy 11.3
29 muscular dystrophy, congenital, merosin-positive 11.2
30 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.5
31 polymicrogyria 10.5
32 scoliosis 10.4
33 pathologic nystagmus 10.4
34 qualitative or quantitative defects of alpha-dystroglycan 10.4
35 3-methylglutaconic aciduria, type iii 10.3
36 distal arthrogryposis 10.3
37 congenital amyoplasia 10.3
38 congenital muscular dystrophy-dystroglycanopathy a14 10.3 LAMA2 DAG1
39 muscular dystrophy, limb-girdle, autosomal recessive 7 10.3 FKRP DMD
40 febrile seizures 10.3
41 hypotonia 10.3
42 familial isolated dilated cardiomyopathy 10.3
43 autosomal recessive limb-girdle muscular dystrophy type 2j 10.3 POMT1 FKRP
44 congenital muscular dystrophy-dystroglycanopathy type a10 10.3 LAMA2 B3GALNT2
45 muscular atrophy 10.3
46 dysphagia 10.3
47 seizure disorder 10.3
48 cerebral cortical dysplasia 10.3
49 progressive muscular dystrophy 10.3
50 autosomal recessive limb-girdle muscular dystrophy type 2f 10.2 FKRP DMD DAG1

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

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

58 31 (show top 50) (show all 63)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 gait disturbance 58 31 hallmark (90%) Very frequent (99-80%) HP:0001288
2 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
3 delayed speech and language development 58 31 hallmark (90%) Very frequent (99-80%) HP:0000750
4 myopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0003198
5 intellectual disability, severe 58 31 hallmark (90%) Very frequent (99-80%) HP:0010864
6 emg abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0003457
7 mask-like facies 58 31 hallmark (90%) Very frequent (99-80%) HP:0000298
8 plagiocephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001357
9 muscular dystrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0003560
10 type ii lissencephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0007260
11 hypoglycosylation of alpha-dystroglycan 58 31 hallmark (90%) Very frequent (99-80%) HP:0030046
12 hypotonia 31 hallmark (90%) HP:0001252
13 eeg abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0002353
14 hydrocephalus 58 31 frequent (33%) Frequent (79-30%) HP:0000238
15 brachycephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000248
16 myopia 58 31 frequent (33%) Frequent (79-30%) HP:0000545
17 pectus excavatum 58 31 frequent (33%) Frequent (79-30%) HP:0000767
18 ventriculomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002119
19 camptodactyly of finger 58 31 frequent (33%) Frequent (79-30%) HP:0100490
20 weak cry 58 31 frequent (33%) Frequent (79-30%) HP:0001612
21 seizure 31 frequent (33%) HP:0001250
22 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
23 visual impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000505
24 optic atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000648
25 intrauterine growth retardation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001511
26 dilated cardiomyopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001644
27 dolichocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000268
28 glaucoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000501
29 aplasia/hypoplasia of the corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0007370
30 retinal dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0007973
31 holoprosencephaly 31 occasional (7.5%) HP:0001360
32 exaggerated startle response 31 occasional (7.5%) HP:0002267
33 flexion contracture 58 31 Very frequent (99-80%) HP:0001371
34 intellectual disability 31 HP:0001249
35 seizures 58 Frequent (79-30%)
36 agenesis of corpus callosum 31 HP:0001274
37 scoliosis 31 HP:0002650
38 muscular hypotonia 58 Very frequent (99-80%)
39 muscle weakness 31 HP:0001324
40 respiratory insufficiency 31 HP:0002093
41 skeletal muscle atrophy 31 HP:0003202
42 strabismus 31 HP:0000486
43 atrial septal defect 31 HP:0001631
44 elevated serum creatine kinase 31 HP:0003236
45 spinal rigidity 31 HP:0003306
46 retinal detachment 31 HP:0000541
47 microphthalmia 31 HP:0000568
48 areflexia 31 HP:0001284
49 pulmonic stenosis 31 HP:0001642
50 polymicrogyria 31 HP:0002126

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
seizures
hydrocephalus
polymicrogyria
cerebellar hypoplasia
pachygyria
more
Respiratory:
respiratory insufficiency

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

Skeletal Spine:
scoliosis
spinal rigidity

Head And Neck Eyes:
optic atrophy
strabismus
myopia
retinal detachment
microphthalmia
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 (Updated 05-Apr-2021)

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 10.15 B3GNT2 DAG1 DMD DPM3 FKRP FKTN
2 growth/size/body region MP:0005378 10.07 B3GALNT2 B3GNT2 DAG1 DMD DPM2 FKRP
3 cellular MP:0005384 10.06 B3GNT2 CRPPA DAG1 DMD FKRP FKTN
4 mortality/aging MP:0010768 10.06 B3GALNT2 CRPPA DAG1 DMD DPM2 DPM3
5 muscle MP:0005369 9.61 DAG1 DMD FKRP FKTN ITGA7 LAMA2
6 nervous system MP:0003631 9.47 B3GNT2 CRPPA DAG1 DMD EGFLAM FKRP

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 Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies, Type A4 29
2 Fukuyama Congenital Muscular Dystrophy 29 FKTN
3 Muscular Dystrophy-Dystroglycanopathy (congenital with Brain and Eye Anomalies), Type a, 4 29
4 Walker-Warburg Syndrome, Fktn-Related 29

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

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

40
Brain, Eye, Skeletal Muscle, Cortex, Retina, Heart, Endothelial

Publications for Muscular Dystrophy-Dystroglycanopathy , Type a, 4

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

(show top 50) (show all 237)
# Title Authors PMID Year
1
Four Caucasian patients with mutations in the fukutin gene and variable clinical phenotype. 61 25 57 6 54
19179078 2009
2
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. 6 57 25
17878207 2007
3
Founder SVA retrotransposal insertion in Fukuyama-type congenital muscular dystrophy and its origin in Japanese and Northeast Asian populations. 25 57 6
16222679 2005
4
Novel mutations and genotype-phenotype relationships in 107 families with Fukuyama-type congenital muscular dystrophy (FCMD). 25 57 6
10545611 1999
5
An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy. 25 6 57
9690476 1998
6
Fukutin gene retrotransposal insertion in a non-Japanese Fukuyama congenital muscular dystrophy (FCMD) patient. 61 57 6
19842201 2009
7
Founder Fukutin mutation causes Walker-Warburg syndrome in four Ashkenazi Jewish families. 6 25 54 61
19266496 2009
8
Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy. 25 61 6 54
17044012 2006
9
A rapid diagnostic method for a retrotransposal insertional mutation into the FCMD gene in Japanese patients with Fukuyama congenital muscular dystrophy. 25 6 61 54
15103718 2004
10
Novel mutations in the fukutin gene in a boy with asymptomatic hyperCKemia. 6 25 61
24144914 2013
11
Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: less severe mutations predominate in patients with a non-Walker-Warburg phenotype. 25 6 61
20961758 2011
12
Two new patients bearing mutations in the fukutin gene confirm the relevance of this gene in Walker-Warburg syndrome. 6 57
18177472 2008
13
A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype. 6 57
14627679 2003
14
A new mutation of the fukutin gene in a non-Japanese patient. 57 6
12601708 2003
15
Cerebellar MR in Fukuyama congenital muscular dystrophy: polymicrogyria with cystic lesions. 61 25 57
7847224 1994
16
Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome. 6 25
22958903 2012
17
Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy. 25 57
21979053 2011
18
Fukutin mutations in congenital muscular dystrophies with defective glycosylation of dystroglycan in Korea. 25 6
20620061 2010
19
Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East. 25 6
18752264 2008
20
Seizure-genotype relationship in Fukuyama-type congenital muscular dystrophy. 6 25
17597323 2008
21
Expression profiling of muscles from Fukuyama-type congenital muscular dystrophy and laminin-alpha 2 deficient congenital muscular dystrophy; is congenital muscular dystrophy a primary fibrotic disease? 57 25
16487936 2006
22
Selective deficiency of alpha-dystroglycan in Fukuyama-type congenital muscular dystrophy. 25 57
11445638 2001
23
Haplotype-phenotype correlation in Fukuyama congenital muscular dystrophy. 57 61 54
10817652 2000
24
Possible influences on the expression of X chromosome-linked dystrophin abnormalities by heterozygosity for autosomal recessive Fukuyama congenital muscular dystrophy. 54 57 61
1731332 1992
25
Fukutin gene mutations in an Italian patient with early onset muscular dystrophy but no central nervous system involvement. 61 6
19396839 2009
26
Further evidence of Fukutin mutations as a cause of childhood onset limb-girdle muscular dystrophy without mental retardation. 25 54 61
19342235 2009
27
Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies. 61 57
12140558 2002
28
Clinical spectrum and genetic studies of Fukuyama congenital muscular dystrophy. 57 61
7856660 1994
29
Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness. 6
30060766 2018
30
Deep-intronic variant of fukutin is the most prevalent point mutation of Fukuyama congenital muscular dystrophy in Japan. 25 61
28680109 2017
31
Novel FKRP mutations in a Japanese MDC1C sibship clinically diagnosed with Fukuyama congenital muscular dystrophy. 25 61
28629604 2017
32
Cardiac involvement in Fukuyama muscular dystrophy is less severe than in Duchenne muscular dystrophy. 25 61
28578814 2017
33
Early-Life Epilepsies and the Emerging Role of Genetic Testing. 6
28759667 2017
34
Spinal fusion in a patient with Fukuyama congenital muscular dystrophy. 25 61
28318781 2017
35
Spinal correction in patients with Fukuyama congenital muscular dystrophy. 25 61
28325699 2017
36
Target resequencing of neuromuscular disease-related genes using next-generation sequencing for patients with undiagnosed early-onset neuromuscular disorders. 61 25
27357428 2016
37
Respiratory management of patients with Fukuyama congenital muscular dystrophy. 61 25
26363734 2016
38
Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing. 6
26809617 2016
39
Founder mutation causes classical Fukuyama congenital muscular dystrophy (FCMD) in Chinese patients. 61 25
25814170 2015
40
Whole Exome Sequencing Reveals DYSF, FKTN, and ISPD Mutations in Congenital Muscular Dystrophy Without Brain or Eye Involvement. 6
25821721 2015
41
Impaired viability of muscle precursor cells in muscular dystrophy with glycosylation defects and amelioration of its severe phenotype by limited gene expression. 25 61
23562821 2013
42
Severe muscle damage following viral infection in patients with Fukuyama congenital muscular dystrophy. 61 25
21726969 2012
43
Mislocalization of fukutin protein by disease-causing missense mutations can be rescued with treatments directed at folding amelioration. 6
22275357 2012
44
Residual laminin-binding activity and enhanced dystroglycan glycosylation by LARGE in novel model mice to dystroglycanopathy. 57
19017726 2009
45
Hyperekplexia in a neonate: a novel finding in Fukuyama type congenital muscular dystrophy. 57
19852435 2009
46
Muscular dystrophies due to glycosylation defects. 57
19019316 2008
47
Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness. 6
17036286 2006
48
Aberrant neuromuscular junctions and delayed terminal muscle fiber maturation in alpha-dystroglycanopathies. 57
16531417 2006
49
The congenital muscular dystrophies in 2004: a century of exciting progress. 57
15351421 2004
50
cDNA microarray analysis of individual Duchenne muscular dystrophy patients. 57
12620965 2003

Variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 4

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

6 (show top 50) (show all 172)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FKTN FKTN, L1 INS Insertion Pathogenic 3202 GRCh37:
GRCh38:
2 FKTN FKTN, 473-BP DEL, NT5370 Deletion Pathogenic 3212 GRCh37:
GRCh38:
3 FKTN NM_001079802.2(FKTN):c.509C>A (p.Ala170Glu) SNV Pathogenic 3214 rs119464997 GRCh37: 9:108366635-108366635
GRCh38: 9:105604354-105604354
4 FKTN NM_001079802.2(FKTN):c.187_188del (p.Met63fs) Deletion Pathogenic 3201 rs587777813 GRCh37: 9:108363446-108363447
GRCh38: 9:105601165-105601166
5 FKTN NM_001079802.2(FKTN):c.454dup (p.Ser152fs) Duplication Pathogenic 3205 rs587777748 GRCh37: 9:108366579-108366580
GRCh38: 9:105604298-105604299
6 FKTN NM_006731.2(FKTN):c.*4392_*4393ins[AB185332.1] Insertion Pathogenic 3199 GRCh37:
GRCh38:
7 FKTN NM_001079802.2(FKTN):c.139C>T (p.Arg47Ter) SNV Pathogenic 3200 rs119463990 GRCh37: 9:108358912-108358912
GRCh38: 9:105596631-105596631
8 FKTN NM_001079802.2(FKTN):c.346C>T (p.Gln116Ter) SNV Pathogenic 3206 rs119463991 GRCh37: 9:108363606-108363606
GRCh38: 9:105601325-105601325
9 FKTN NM_001079802.2(FKTN):c.1112A>G (p.Tyr371Cys) SNV Pathogenic 3215 rs119464998 GRCh37: 9:108382282-108382282
GRCh38: 9:105620001-105620001
10 FKRP NM_024301.5(FKRP):c.679G>C (p.Ala227Pro) SNV Pathogenic 430845 rs775681117 GRCh37: 19:47259386-47259386
GRCh38: 19:46756129-46756129
11 FKTN NM_001079802.2(FKTN):c.920G>A (p.Arg307Gln) SNV Pathogenic 3208 rs119463992 GRCh37: 9:108380249-108380249
GRCh38: 9:105617968-105617968
12 FKTN NM_001079802.2(FKTN):c.919C>T (p.Arg307Ter) SNV Pathogenic 3216 rs267606814 GRCh37: 9:108380248-108380248
GRCh38: 9:105617967-105617967
13 FKTN NM_001079802.2(FKTN):c.919C>T (p.Arg307Ter) SNV Pathogenic 3216 rs267606814 GRCh37: 9:108380248-108380248
GRCh38: 9:105617967-105617967
14 FKTN NM_001079802.2(FKTN):c.607C>T (p.Arg203Ter) SNV Pathogenic 225359 rs746763506 GRCh37: 9:108366733-108366733
GRCh38: 9:105604452-105604452
15 FKTN NM_001079802.2(FKTN):c.607C>T (p.Arg203Ter) SNV Pathogenic 225359 rs746763506 GRCh37: 9:108366733-108366733
GRCh38: 9:105604452-105604452
16 FKTN NM_001079802.2(FKTN):c.1167dup (p.Phe390fs) Duplication Pathogenic 3203 rs398123555 GRCh37: 9:108382330-108382331
GRCh38: 9:105620049-105620050
17 FKTN NM_001079802.2(FKTN):c.1167dup (p.Phe390fs) Duplication Pathogenic 3203 rs398123555 GRCh37: 9:108382330-108382331
GRCh38: 9:105620049-105620050
18 FKTN NM_001079802.2(FKTN):c.642dup (p.Asp215Ter) Duplication Pathogenic/Likely pathogenic 93523 rs398123557 GRCh37: 9:108366764-108366765
GRCh38: 9:105604483-105604484
19 FKTN NM_001079802.2(FKTN):c.1106del (p.Phe369fs) Deletion Likely pathogenic 371091 rs750176716 GRCh37: 9:108382270-108382270
GRCh38: 9:105619989-105619989
20 FKTN NM_006731.2(FKTN):c.648-1243G>T SNV Likely pathogenic 496331 rs1554754182 GRCh37: 9:108368857-108368857
GRCh38: 9:105606576-105606576
21 FKTN NM_006731.2(FKTN):c.648-1243G>T SNV Likely pathogenic 496331 rs1554754182 GRCh37: 9:108368857-108368857
GRCh38: 9:105606576-105606576
22 FKTN NM_001079802.2(FKTN):c.-1_2del (p.Met1del) Deletion Likely pathogenic 551221 rs1180986256 GRCh37: 9:108337312-108337314
GRCh38: 9:105575031-105575033
23 FKTN NM_001079802.2(FKTN):c.42del (p.Thr14_Leu15insTer) Deletion Likely pathogenic 555661 rs1309132512 GRCh37: 9:108337355-108337355
GRCh38: 9:105575074-105575074
24 FKTN NM_001079802.2(FKTN):c.411C>A (p.Cys137Ter) SNV Likely pathogenic 167069 rs537001725 GRCh37: 9:108366537-108366537
GRCh38: 9:105604256-105604256
25 FKTN NM_001079802.2(FKTN):c.658_661del (p.Gln220fs) Deletion Likely pathogenic 371297 rs1057517160 GRCh37: 9:108370110-108370113
GRCh38: 9:105607829-105607832
26 FKTN NM_001079802.2(FKTN):c.770del (p.Ala257fs) Deletion Likely pathogenic 371050 rs1057516966 GRCh37: 9:108370222-108370222
GRCh38: 9:105607941-105607941
27 FKTN NM_001079802.2(FKTN):c.429del (p.Asp144fs) Deletion Likely pathogenic 370133 rs1057516258 GRCh37: 9:108366553-108366553
GRCh38: 9:105604272-105604272
28 FKTN NM_001079802.2(FKTN):c.109G>T (p.Gly37Ter) SNV Likely pathogenic 370768 rs773884973 GRCh37: 9:108358882-108358882
GRCh38: 9:105596601-105596601
29 FKTN NM_006731.2(FKTN):c.780+1G>A SNV Likely pathogenic 370420 rs370819786 GRCh37: 9:108370233-108370233
GRCh38: 9:105607952-105607952
30 FKTN NM_001079802.2(FKTN):c.330dup (p.Thr111fs) Duplication Likely pathogenic 281839 rs767865405 GRCh37: 9:108363587-108363588
GRCh38: 9:105601306-105601307
31 FKTN NM_001079802.2(FKTN):c.1129_1130del (p.Met377fs) Deletion Likely pathogenic 557908 rs1554761402 GRCh37: 9:108382299-108382300
GRCh38: 9:105620018-105620019
32 FKTN NM_006731.2(FKTN):c.1172+1G>A SNV Likely pathogenic 558161 rs1554761462 GRCh37: 9:108382343-108382343
GRCh38: 9:105620062-105620062
33 FKTN NM_006731.2(FKTN):c.1173-2A>G SNV Likely pathogenic 558611 rs1554766808 GRCh37: 9:108397330-108397330
GRCh38: 9:105635049-105635049
34 FKTN NM_006731.2(FKTN):c.370-2A>G SNV Likely pathogenic 551769 rs1554752805 GRCh37: 9:108366494-108366494
GRCh38: 9:105604213-105604213
35 FKTN NM_006731.2(FKTN):c.106-2A>G SNV Likely pathogenic 552263 rs1554748292 GRCh37: 9:108358877-108358877
GRCh38: 9:105596596-105596596
36 FKTN NM_006731.2(FKTN):c.1173-1G>A SNV Likely pathogenic 552964 rs557699482 GRCh37: 9:108397331-108397331
GRCh38: 9:105635050-105635050
37 FKTN NM_006731.2(FKTN):c.1173-1G>C SNV Likely pathogenic 553352 rs557699482 GRCh37: 9:108397331-108397331
GRCh38: 9:105635050-105635050
38 FKTN NM_006731.2(FKTN):c.528dup (p.His177fs) Duplication Likely pathogenic 666969 rs1588112379 GRCh37: 9:108366651-108366652
GRCh38: 9:105604370-105604371
39 FKTN NM_001079802.2(FKTN):c.1099del (p.Val367fs) Deletion Likely pathogenic 556831 rs1554761310 GRCh37: 9:108382269-108382269
GRCh38: 9:105619988-105619988
40 FKTN NM_001079802.2(FKTN):c.1112A>G (p.Tyr371Cys) SNV Conflicting interpretations of pathogenicity 3215 rs119464998 GRCh37: 9:108382282-108382282
GRCh38: 9:105620001-105620001
41 FKTN NM_001079802.2(FKTN):c.383G>A (p.Arg128Gln) SNV Uncertain significance 286471 rs146049441 GRCh37: 9:108366509-108366509
GRCh38: 9:105604228-105604228
42 FKTN NM_001079802.2(FKTN):c.1228C>A (p.His410Asn) SNV Uncertain significance 283469 rs146272618 GRCh37: 9:108397387-108397387
GRCh38: 9:105635106-105635106
43 FKTN NM_001079802.2(FKTN):c.1337A>G (p.Asn446Ser) SNV Uncertain significance 499551 rs374912618 GRCh37: 9:108397496-108397496
GRCh38: 9:105635215-105635215
44 FKTN NM_001079802.2(FKTN):c.*2505A>G SNV Uncertain significance 364506 rs367988702 GRCh37: 9:108400050-108400050
GRCh38: 9:105637769-105637769
45 FKTN NM_001079802.2(FKTN):c.*2265T>C SNV Uncertain significance 364504 rs76003803 GRCh37: 9:108399810-108399810
GRCh38: 9:105637529-105637529
46 FKTN NM_001079802.2(FKTN):c.*2904G>A SNV Uncertain significance 364509 rs138806979 GRCh37: 9:108400449-108400449
GRCh38: 9:105638168-105638168
47 FKTN NM_001079802.2(FKTN):c.-39G>A SNV Uncertain significance 912449 GRCh37: 9:108337275-108337275
GRCh38: 9:105574994-105574994
48 FKTN NM_001079802.2(FKTN):c.*760A>C SNV Uncertain significance 912535 GRCh37: 9:108398305-108398305
GRCh38: 9:105636024-105636024
49 FKTN NM_001079802.2(FKTN):c.*2640G>C SNV Uncertain significance 912629 GRCh37: 9:108400185-108400185
GRCh38: 9:105637904-105637904
50 FKTN NM_001079802.2(FKTN):c.*2674A>G SNV Uncertain significance 912630 GRCh37: 9:108400219-108400219
GRCh38: 9:105637938-105637938

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

72
# 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

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

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 245109 9 101600000 113900000 Copy number FKTN 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:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.25 RXYLT1 POMT2 POMT1 POMGNT2 POMGNT1 LARGE2
2 integral component of membrane GO:0016021 10.03 RXYLT1 POMT2 POMT1 POMGNT2 POMGNT1 LARGE2
3 endoplasmic reticulum GO:0005783 10.01 POMT2 POMT1 POMGNT2 FKTN FKRP DPM3
4 endoplasmic reticulum membrane GO:0005789 9.99 POMT2 POMT1 POMGNT2 DPM3 DPM2 B3GALNT2
5 basement membrane GO:0005604 9.63 LAMA2 EGFLAM DAG1
6 integral component of Golgi membrane GO:0030173 9.61 POMGNT1 LARGE1 FKTN
7 Golgi apparatus GO:0005794 9.61 RXYLT1 POMGNT1 LARGE2 LARGE1 FKTN FKRP
8 sarcolemma GO:0042383 9.56 LAMA2 FKRP DMD DAG1
9 costamere GO:0043034 9.52 DMD DAG1
10 synaptic cleft GO:0043083 9.49 LAMA2 EGFLAM
11 dystrophin-associated glycoprotein complex GO:0016010 9.48 DMD DAG1
12 dolichol-phosphate-mannose synthase complex GO:0033185 9.37 DPM3 DPM2
13 Golgi membrane GO:0000139 9.23 RXYLT1 POMGNT1 LARGE2 LARGE1 FKTN FKRP

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 9.8 POMT1 LAMA2 ITGA7 EGFLAM DAG1
2 axon guidance GO:0007411 9.78 LAMA2 DAG1 CRPPA B3GNT2
3 protein O-linked glycosylation GO:0006493 9.76 POMT2 POMT1 POMGNT2 POMGNT1 LARGE2 LARGE1
4 protein O-linked mannosylation GO:0035269 9.7 RXYLT1 POMT2 POMT1 POMGNT2 LARGE2 LARGE1
5 muscle organ development GO:0007517 9.67 LAMA2 ITGA7 FKTN DMD
6 mannosylation GO:0097502 9.52 POMT2 POMT1
7 glycoprotein biosynthetic process GO:0009101 9.51 LARGE1 FKRP
8 skeletal muscle tissue regeneration GO:0043403 9.5 LARGE1 DMD DAG1
9 response to denervation involved in regulation of muscle adaptation GO:0014894 9.49 DMD DAG1
10 protein glycosylation GO:0006486 9.47 RXYLT1 POMT2 POMT1 POMGNT2 POMGNT1 LARGE2
11 Schwann cell differentiation GO:0014037 9.46 LAMA2 DAG1
12 positive regulation of protein O-linked glycosylation GO:1904100 9.43 POMT2 POMT1
13 muscle cell cellular homeostasis GO:0046716 9.43 LARGE2 LARGE1 DMD

Molecular functions 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 transferase activity GO:0016740 9.73 RXYLT1 POMT2 POMT1 POMGNT2 POMGNT1 LARGE2
2 manganese ion binding GO:0030145 9.58 POMGNT1 LARGE2 LARGE1
3 acetylgalactosaminyltransferase activity GO:0008376 9.51 B3GNT2 B3GALNT2
4 mannosyltransferase activity GO:0000030 9.49 POMT2 POMT1
5 vinculin binding GO:0017166 9.48 DMD DAG1
6 UDP-xylosyltransferase activity GO:0035252 9.46 LARGE2 LARGE1
7 acetylglucosaminyltransferase activity GO:0008375 9.46 POMGNT2 POMGNT1 LARGE1 B3GNT2
8 dolichyl-phosphate-mannose-protein mannosyltransferase activity GO:0004169 9.43 POMT2 POMT1
9 dystroglycan binding GO:0002162 9.43 FKRP DMD DAG1
10 dolichyl-phosphate beta-D-mannosyltransferase activity GO:0004582 9.37 DPM3 DPM2
11 xylosyltransferase activity GO:0042285 9.32 LARGE2 LARGE1
12 transferase activity, transferring glycosyl groups GO:0016757 9.23 POMT2 POMT1 POMGNT2 POMGNT1 LARGE2 LARGE1

Sources for Muscular Dystrophy-Dystroglycanopathy , Type a, 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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