MCID: MSC037
MIFTS: 45

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 49 11
Fukuyama Congenital Muscular Dystrophy 10 21 22 23 47 12 51
Fcmd 21 22 23 51 67
Fukuyama Type Congenital Muscular Dystrophy 21 23 65
Congenital Muscular Dystrophy Fukuyama Type 67 24
Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies A4 67
Muscular Dystrophy, Congenital, with Central Nervous System Involvement 23
Muscular Dystrophy, Congenital Progressive, with Mental Retardation 23
Muscular Dystrophy, Congenital, Fukuyama Type 23
Congenital Muscular Dystrophy, Fukuyama Type 51
 
Cerebromuscular Dystrophy, Fukuyama Type 23
Cerebromuscular Dystrophy Fukuyama Type 67
Micropolygyria with Muscular Dystrophy 67
Polymicrogyria with Muscular Dystrophy 23
Muscle-Eye-Brain Disease Fktn-Related 67
Walker-Warburg Syndrome Fktn-Related 67
Fukuyama Muscular Dystrophy 23
Fukuyama Syndrome 23
Fukuyama Cmd 23
Mddga4 67

Characteristics:

Orphanet epidemiological data:

51
fukuyama congenital muscular dystrophy:
Prevalence: 1-9/100000 (Japan)

HPO:

61
muscular dystrophy-dystroglycanopathy , type a, 4:
Onset and clinical course: infantile onset
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 253800
Disease Ontology10 DOID:0050559
Orphanet51 272
UMLS via Orphanet66 C0410174
MedGen34 C0410174
MeSH36 D058494
UMLS65 C0410174

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type a, 4

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OMIM:49 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 retinal dysplasia, exaggerated startle response and holoprosencephaly. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type a, 4 is FKTN (Fukutin), and among its related pathways are Muscular Dystrophies and Dystrophin-Glycoprotein Complex and Other types of O-glycan biosynthesis. Affiliated tissues include eye, brain and skeletal muscle, and related mouse phenotypes are immune system and cardiovascular system.

UniProtKB/Swiss-Prot:67 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:23 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 summary 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 top 50)    (show all 68)
idRelated DiseaseScoreTop Affiliating Genes
1fukuyama type muscular dystrophy11.6
2muscular dystrophy, congenital, merosin-positive10.6
3retinitis10.5
4breast cancer10.5
5hepatitis10.5
6leukemia10.5
7hypopituitarism10.5
8muscular dystrophy-dystroglycanopathy , type a, 110.3
9von willebrand's disease10.3
10colorectal cancer10.3
11hyperprolactinemia10.3
12multiple myeloma10.3
13exfoliation syndrome10.3
14rett syndrome10.3
15atherosclerosis10.3
16colorectal adenoma10.3
17crohn's disease10.3
18gastric cancer10.3
19keloids10.3
20polycystic ovary syndrome10.3
21aphasia10.3
22myeloma10.3
23rickets10.3
24sarcoma10.3
25anhidrosis10.3
26transient global amnesia10.3
27dracunculiasis10.3
28kernicterus10.3
29ovarian cancer10.3
30chondroma10.3
31gingivitis10.3
32progeria10.3
33epithelioid sarcoma10.3
34adenoma10.3
35impetigo herpetiformis10.3
36impetigo10.3
37vasculitis10.3
38neuropathy10.3
39amyloidosis10.3
40diabetes insipidus10.3
41meningitis10.3
42al amyloidosis10.3
43neonatal meningitis10.3
44pyogenic granuloma10.3
45hypoxia10.3
46restrictive dermopathy10.3
47rheumatoid arthritis10.2
48arthritis10.2
49aldosterone-producing adenoma with seizures and neurological abnormalities10.1FKTN, POMT1
50congenital muscular dystrophy without intellectual disability10.1POMGNT1, POMT1

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

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

(show all 37)
id Description Frequency HPO Source Accession
1 retinal dysplasia rare (5%) HP:0007973
2 exaggerated startle response rare (5%) HP:0002267
3 holoprosencephaly rare (5%) HP:0001360
4 calf muscle hypertrophy HP:0008981
5 hypoplasia of the pyramidal tract HP:0007348
6 type ii lissencephaly HP:0007260
7 congenital muscular dystrophy HP:0003741
8 spinal rigidity HP:0003306
9 elevated serum creatine phosphokinase HP:0003236
10 skeletal muscle atrophy HP:0003202
11 scoliosis HP:0002650
12 hypoplasia of the brainstem HP:0002365
13 cerebellar cyst HP:0002350
14 polymicrogyria HP:0002126
15 respiratory insufficiency HP:0002093
16 encephalocele HP:0002084
17 myocardial fibrosis HP:0001685
18 transposition of the great arteries HP:0001669
19 pulmonic stenosis HP:0001642
20 atria septal defect HP:0001631
21 flexion contracture HP:0001371
22 muscle weakness HP:0001324
23 cerebellar hypoplasia HP:0001321
24 pachygyria HP:0001302
25 areflexia HP:0001284
26 agenesis of corpus callosum HP:0001274
27 muscular hypotonia HP:0001252
28 seizures HP:0001250
29 intellectual disability HP:0001249
30 optic atrophy HP:0000648
31 microphthalmia HP:0000568
32 myopia HP:0000545
33 retinal detachment HP:0000541
34 hypermetropia HP:0000540
35 cataract HP:0000518
36 strabismus HP:0000486
37 hydrocephalus HP:0000238

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 Dystrophy22 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:

33
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:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053878.1DMD, FKTN, LAMA2, LARGE, POMT1
2MP:00053857.8DMD, ITGA7, LARGE, POMGNT1, POMT1
3MP:00053867.7DMD, FKTN, ITGA7, LAMA2, LARGE, POMGNT1
4MP:00036317.6DMD, FKTN, ITGA7, LAMA2, LARGE, POMGNT1
5MP:00053767.6DMD, FKTN, ITGA7, LAMA2, LARGE, POMGNT1
6MP:00053787.5DMD, FKTN, ITGA7, LAMA2, LARGE, POMGNT1
7MP:00053697.1DMD, FKTN, ITGA7, LAMA2, LARGE, POMGNT1
8MP:00107687.0DMD, FKTN, ITGA7, LAMA2, LARGE, POMGNT1

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:

67
id Symbol AA change Variation ID SNP ID
1FKTNp.Cys250GlyVAR_018278
2FKTNp.Ala170GluVAR_065051
3FKTNp.Tyr371CysVAR_065054

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1FKTNNM_001079802.1(FKTN): c.*4375_*4376ins3062insertionPathogenicGRCh37Chr 9, 108401920: 108401921
2FKTNNM_001079802.1(FKTN): c.919C> T (p.Arg307Ter)single nucleotide variantLikely pathogenic, Pathogenicrs267606814GRCh37Chr 9, 108380248: 108380248
3FKTNNM_001079802.1(FKTN): c.642dupT (p.Asp215Terfs)duplicationLikely pathogenic, Pathogenicrs398123557GRCh37Chr 9, 108366768: 108366768

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

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

idNameGO IDScoreTop Affiliating Genes
1protein O-linked mannosylationGO:00352699.6LARGE, POMT1
2extracellular matrix organizationGO:00301989.1DMD, ITGA7

Sources for Muscular Dystrophy-Dystroglycanopathy , Type a, 4

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet