MCID: MSC037
MIFTS: 44

Muscular Dystrophy-Dystroglycanopathy , Type a, 4 malady

Categories: Genetic diseases, Neuronal diseases, Eye diseases, Metabolic diseases, Fetal diseases, Rare diseases, Muscle diseases, Mental diseases

Aliases & Classifications for Muscular Dystrophy-Dystroglycanopathy , Type a, 4

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Aliases & Descriptions for Muscular Dystrophy-Dystroglycanopathy , Type a, 4:

Name: Muscular Dystrophy-Dystroglycanopathy , Type a, 4 51 12
Fukuyama Congenital Muscular Dystrophy 11 23 24 25 53 49 13
Fcmd 23 24 25 53 69
Fukuyama Type Congenital Muscular Dystrophy 23 25 67
Congenital Muscular Dystrophy Fukuyama Type 69 26
Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies A4 69
Muscular Dystrophy, Congenital, with Central Nervous System Involvement 25
Muscular Dystrophy, Congenital Progressive, with Mental Retardation 25
Muscular Dystrophy, Congenital, Fukuyama Type 25
Congenital Muscular Dystrophy, Fukuyama Type 53
 
Cerebromuscular Dystrophy, Fukuyama Type 25
Cerebromuscular Dystrophy Fukuyama Type 69
Polymicrogyria with Muscular Dystrophy 25
Micropolygyria with Muscular Dystrophy 69
Muscle-Eye-Brain Disease Fktn-Related 69
Walker-Warburg Syndrome Fktn-Related 69
Fukuyama Muscular Dystrophy 25
Fukuyama Syndrome 25
Fukuyama Cmd 25
Mddga4 69

Characteristics:

Orphanet epidemiological data:

53
fukuyama congenital muscular dystrophy:
Prevalence: 1-9/100000 (Japan)

HPO:

63
muscular dystrophy-dystroglycanopathy , type a, 4:
Inheritance: autosomal recessive inheritance
Onset and clinical course: infantile onset

Classifications:



External Ids:

OMIM51 253800
Disease Ontology11 DOID:0050559
Orphanet53 ORPHA272
UMLS via Orphanet68 C0410174
ICD10 via Orphanet30 G71.0
MedGen36 C0410174
MeSH38 D058494

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type a, 4

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OMIM:51 MDDGA4 is a severe autosomal recessive muscular dystrophy-dystroglycanopathy with characteristic brain and... (253800) more...

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, merosin-positive, and has symptoms including holoprosencephaly, exaggerated startle response and retinal dysplasia. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type a, 4 is FKTN (Fukutin), and among its related pathways are Other types of O-glycan biosynthesis and ECM proteoglycans. Affiliated tissues include eye, brain and skeletal muscle, and related mouse phenotypes are muscle and cellular.

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:69 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 for NBK1206

Related Diseases for Muscular Dystrophy-Dystroglycanopathy , Type a, 4

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Diseases in the Muscular Dystrophy-Dystroglycanopathy family:

Muscular Dystrophy-Dystroglycanopathy , Type a, 3 Muscular Dystrophy-Dystroglycanopathy , Type B, 3
Muscular Dystrophy-Dystroglycanopathy , Type C, 3 Muscular Dystrophy-Dystroglycanopathy , Type a, 14
Muscular Dystrophy-Dystroglycanopathy , Type C, 14 Muscular Dystrophy-Dystroglycanopathy , Type B, 14
Muscular Dystrophy-Dystroglycanopathy , Type C, 9 Muscular Dystrophy-Dystroglycanopathy , Type a, 9
Muscular Dystrophy-Dystroglycanopathy , Type a, 7 Muscular Dystrophy-Dystroglycanopathy , Type C, 7
Muscular Dystrophy-Dystroglycanopathy , Type a, 12 Muscular Dystrophy-Dystroglycanopathy , Type C, 12
muscular dystrophy-dystroglycanopathy , type a, 4 Muscular Dystrophy-Dystroglycanopathy , Type B, 4
Muscular Dystrophy-Dystroglycanopathy , Type C, 4 Muscular Dystrophy-Dystroglycanopathy , Type a, 1
Muscular Dystrophy-Dystroglycanopathy , Type B, 1 Muscular Dystrophy-Dystroglycanopathy , Type C, 1
Muscular Dystrophy-Dystroglycanopathy , Type a, 13 Muscular Dystrophy-Dystroglycanopathy , Type a, 10
Muscular Dystrophy-Dystroglycanopathy , Type a, 2 Muscular Dystrophy-Dystroglycanopathy , Type B, 2
Muscular Dystrophy-Dystroglycanopathy , Type C, 2 Muscular Dystrophy-Dystroglycanopathy , Type a, 5
Muscular Dystrophy-Dystroglycanopathy , Type B, 5 Muscular Dystrophy-Dystroglycanopathy , Type C, 5
Muscular Dystrophy-Dystroglycanopathy , Type a, 6 Muscular Dystrophy-Dystroglycanopathy , Type B, 6

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

(show all 25)
idRelated DiseaseScoreTop Affiliating Genes
1fukuyama type muscular dystrophy11.1
2muscular dystrophy, congenital, merosin-positive11.1
3muscular dystrophy-dystroglycanopathy , type a, 110.8
4muscular dystrophy10.8
5neuronitis10.1
6intellectual disability-facial dysmorphism-hand anomalies syndrome10.1FKTN, POMT1
7muscular dystrophy-dystroglycanopathy , type b, 110.1FKTN, POMT1
8leigh syndrome10.0
9microcephaly10.0
10polymicrogyria10.0
11intellectual disability-seizures-macrocephaly-obesity syndrome10.0POMGNT1, POMT1
12gastric antral vascular ectasia9.7FKTN, POMGNT1, POMT1
13cubitus valgus with mental retardation and unusual facies9.6DMD, LAMA2
14thrombocytopenia, x-linked9.5DMD, FKTN, LAMA2
15classic variant of chromophobe renal cell carcinoma9.5DMD, FKTN, LAMA2
16microcephaly and chorioretinopathy 19.5DMD, ITGA7
17longitudinal vaginal septum9.4DMD, FKTN
18medial medullary syndrome9.3FKTN, POMGNT1, POMGNT2, POMT1
19ectodermal dysplasia9.2DMD, FKTN, LAMA2
20immunodeficiency 34, mycobacteriosis, x-linked9.2DMD, ITGA7, LAMA2
21median arcuate ligament syndrome9.1DMD, FKTN, LAMA2, POMT1
22colon cancer, advanced somatic8.6DMD, FKTN, POMGNT1, POMGNT2, POMT1
23nonsyndromic deafness8.3DMD, FKTN, LAMA2, POMGNT1, POMGNT2, POMT1
24muscular dystrophy, congenital7.8DMD, FKTN, ITGA7, LAMA2, POMGNT1, POMGNT2
25muscular dystrophy-dystroglycanopathy , type b, 47.7DMD, FKTN, ITGA7, LAMA2, POMGNT1, POMGNT2

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 for Muscular Dystrophy-Dystroglycanopathy , Type a, 4

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Symptoms by clinical synopsis from OMIM:

253800

Clinical features from OMIM:

253800

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

 63 53 (show all 59)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 holoprosencephaly63 rare (5%) HP:0001360
2 exaggerated startle response63 rare (5%) HP:0002267
3 retinal dysplasia63 53 rare (5%) Occasional (29-5%) HP:0007973
4 hydrocephalus63 53 Frequent (79-30%) HP:0000238
5 strabismus63 HP:0000486
6 cataract63 53 Occasional (29-5%) HP:0000518
7 hypermetropia63 HP:0000540
8 retinal detachment63 HP:0000541
9 myopia63 53 Frequent (79-30%) HP:0000545
10 microphthalmia63 HP:0000568
11 optic atrophy63 53 Occasional (29-5%) HP:0000648
12 intellectual disability63 HP:0001249
13 seizures63 53 Frequent (79-30%) HP:0001250
14 muscular hypotonia63 53 Very frequent (99-80%) HP:0001252
15 agenesis of corpus callosum63 HP:0001274
16 areflexia63 HP:0001284
17 pachygyria63 HP:0001302
18 cerebellar hypoplasia63 HP:0001321
19 muscle weakness63 HP:0001324
20 flexion contracture63 53 Very frequent (99-80%) HP:0001371
21 atria septal defect63 HP:0001631
22 pulmonic stenosis63 HP:0001642
23 transposition of the great arteries63 HP:0001669
24 myocardial fibrosis63 HP:0001685
25 encephalocele63 HP:0002084
26 respiratory insufficiency63 HP:0002093
27 polymicrogyria63 HP:0002126
28 cerebellar cyst63 HP:0002350
29 hypoplasia of the brainstem63 HP:0002365
30 scoliosis63 HP:0002650
31 skeletal muscle atrophy63 HP:0003202
32 elevated serum creatine phosphokinase63 HP:0003236
33 spinal rigidity63 HP:0003306
34 congenital muscular dystrophy63 HP:0003741
35 type ii lissencephaly63 53 Very frequent (99-80%) HP:0007260
36 hypoplasia of the pyramidal tract63 HP:0007348
37 calf muscle hypertrophy63 HP:0008981
38 brachycephaly53 Frequent (79-30%)
39 dolichocephaly53 Occasional (29-5%)
40 mask-like facies53 Very frequent (99-80%)
41 glaucoma53 Occasional (29-5%)
42 visual impairment53 Occasional (29-5%)
43 delayed speech and language development53 Very frequent (99-80%)
44 pectus excavatum53 Frequent (79-30%)
45 global developmental delay53 Very frequent (99-80%)
46 gait disturbance53 Very frequent (99-80%)
47 plagiocephaly53 Very frequent (99-80%)
48 intrauterine growth retardation53 Occasional (29-5%)
49 weak cry53 Frequent (79-30%)
50 dilated cardiomyopathy53 Occasional (29-5%)
51 ventriculomegaly53 Frequent (79-30%)
52 eeg abnormality53 Frequent (79-30%)
53 myopathy53 Very frequent (99-80%)
54 emg abnormality53 Very frequent (99-80%)
55 muscular dystrophy53 Very frequent (99-80%)
56 aplasia/hypoplasia of the corpus callosum53 Occasional (29-5%)
57 intellectual disability, severe53 Very frequent (99-80%)
58 hypoglycosylation of alpha-dystroglycan53 Very frequent (99-80%)
59 camptodactyly of finger53 Frequent (79-30%)

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


seizures

Drugs & Therapeutics for Muscular Dystrophy-Dystroglycanopathy , Type a, 4

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Muscular Dystrophy-Dystroglycanopathy , Type a, 4

Genetic Tests for Muscular Dystrophy-Dystroglycanopathy , Type a, 4

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Genetic tests related to Muscular Dystrophy-Dystroglycanopathy , Type a, 4:

id Genetic test Affiliating Genes
1 Fukuyama Congenital Muscular Dystrophy26 24 FKTN

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

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

35
Eye, Brain, Skeletal muscle

Animal Models for Muscular Dystrophy-Dystroglycanopathy , Type a, 4 or affiliated genes

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

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053697.6DMD, FKTN, ITGA7, LAMA2, POMGNT1, POMT1
2MP:00053847.5DMD, FKTN, ITGA7, LAMA2, POMGNT1, POMGNT2
3MP:00053787.3DMD, FKTN, ITGA7, LAMA2, POMGNT1, POMGNT2
4MP:00036317.3DMD, FKTN, ITGA7, LAMA2, POMGNT1, POMGNT2
5MP:00053767.2DMD, FKTN, ITGA7, LAMA2, POMGNT1, POMGNT2
6MP:00107686.9DMD, FKTN, ITGA7, LAMA2, POMGNT1, POMGNT2

Publications for Muscular Dystrophy-Dystroglycanopathy , Type a, 4

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Variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 4

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

69
id Symbol AA change Variation ID SNP ID
1FKTNp.Cys250GlyVAR_018278
2FKTNp.Ala170GluVAR_065051rs119464997
3FKTNp.Tyr371CysVAR_065054rs119464998

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

5 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1FKTNNM_001079802.1(FKTN): c.*4375_*4376ins3062insertionPathogenicGRCh37Chr 9, 108401920: 108401921
2FKTNNM_001079802.1(FKTN): c.330dupT (p.Thr111Tyrfs)duplicationLikely pathogenic, Pathogenicrs886042245GRCh37Chr 9, 108363590: 108363590
3FKTNNM_001079802.1(FKTN): c.456_457delAC (p.Ser154Trpfs)deletionPathogenicrs886042664GRCh37Chr 9, 108366582: 108366583
4FKTNNM_001079802.1(FKTN): c.1167dupA (p.Phe390Ilefs)duplicationPathogenicrs398123555GRCh38Chr 9, 105620056: 105620056
5FKTNNM_001079802.1(FKTN): c.919C> T (p.Arg307Ter)SNVLikely pathogenic, Pathogenicrs267606814GRCh37Chr 9, 108380248: 108380248
6FKTNNM_001079802.1: c.429delAdeletionLikely pathogenicChr na, -1: -1
7FKTNNM_001079802.1: c.780+1G> ASNVLikely pathogenicChr na, -1: -1
8FKTNNM_001079802.1: c.109G> TSNVLikely pathogenicChr na, -1: -1
9FKTNNM_001079802.1: c.770delCdeletionLikely pathogenicChr na, -1: -1
10FKTNNM_001079802.1: c.1106delTdeletionLikely pathogenicChr na, -1: -1
11FKTNNM_001079802.1: c.658_661delCAGCdeletionLikely pathogenicChr na, -1: -1
12FKTNNM_001079802.1(FKTN): c.642dupT (p.Asp215Terfs)duplicationLikely pathogenic, Pathogenicrs398123557GRCh37Chr 9, 108366768: 108366768

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

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
12451099101600000113900000Copy numberFCMDFukuyama congenital muscular dystrophy

Expression for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type a, 4

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Search GEO for disease gene expression data for Muscular Dystrophy-Dystroglycanopathy , Type a, 4.

Pathways for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type a, 4

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

idSuper pathwaysScoreTop Affiliating Genes
19.5POMGNT1, POMT1
29.4ITGA7, LAMA2
39.2DMD, LAMA2
4
Show member pathways
8.6DMD, ITGA7, LAMA2
5
Show member pathways
8.6DMD, ITGA7, LAMA2

GO Terms for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type a, 4

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

idNameGO IDScoreTop Affiliating Genes
1sarcolemmaGO:00423839.2DMD, LAMA2

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

idNameGO IDScoreTop Affiliating Genes
1protein O-linked glycosylationGO:00064939.2POMGNT1, POMGNT2, POMT1
2extracellular matrix organizationGO:00301988.9ITGA7, LAMA2, POMT1
3protein O-linked mannosylationGO:00352698.8FKTN, POMGNT2, POMT1
4muscle organ developmentGO:00075178.1DMD, FKTN, ITGA7, LAMA2

Sources for Muscular Dystrophy-Dystroglycanopathy , Type a, 4

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet