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

About this section

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

Name: Muscular Dystrophy-Dystroglycanopathy , Type a, 4 50 12
Fukuyama Congenital Muscular Dystrophy 11 22 23 24 13 52 48
Fcmd 22 23 24 52 68
Fukuyama Type Congenital Muscular Dystrophy 22 24 66
Congenital Muscular Dystrophy Fukuyama Type 68 25
Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies A4 68
Muscular Dystrophy, Congenital, with Central Nervous System Involvement 24
Muscular Dystrophy, Congenital Progressive, with Mental Retardation 24
Muscular Dystrophy, Congenital, Fukuyama Type 24
Congenital Muscular Dystrophy, Fukuyama Type 52
 
Cerebromuscular Dystrophy, Fukuyama Type 24
Cerebromuscular Dystrophy Fukuyama Type 68
Micropolygyria with Muscular Dystrophy 68
Polymicrogyria with Muscular Dystrophy 24
Muscle-Eye-Brain Disease Fktn-Related 68
Walker-Warburg Syndrome Fktn-Related 68
Fukuyama Muscular Dystrophy 24
Fukuyama Syndrome 24
Fukuyama Cmd 24
Mddga4 68

Characteristics:

Orphanet epidemiological data:

52
fukuyama congenital muscular dystrophy:
Prevalence: 1-9/100000 (Japan)

HPO:

62
muscular dystrophy-dystroglycanopathy , type a, 4:
Inheritance: autosomal recessive inheritance
Onset and clinical course: infantile onset


Classifications:



External Ids:

OMIM50 253800
Disease Ontology11 DOID:0050559
Orphanet52 ORPHA272
UMLS via Orphanet67 C0410174
ICD10 via Orphanet29 G71.0
MedGen35 C0410174
MeSH37 D058494

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type a, 4

About this section
OMIM:50 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, 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 cellular and muscle.

Genetics Home Reference:24 Fukuyama congenital muscular dystrophy is an inherited condition that predominantly affects the muscles, brain, and eyes. Congenital muscular dystrophies are a group of genetic conditions that cause muscle weakness and wasting (atrophy) beginning very early in life.

UniProtKB/Swiss-Prot:68 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 summary for NBK1206

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

About this section

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 dystrophy11.2
2muscular dystrophy10.9
3neuronitis10.2
4muscular dystrophy, congenital, merosin-positive10.2
5intellectual disability-facial dysmorphism-hand anomalies syndrome10.1FKTN, POMT1
6muscular dystrophy-dystroglycanopathy , type b, 110.1FKTN, POMT1
7leigh syndrome10.1
8microcephaly10.1
9polymicrogyria10.1
10intellectual disability-seizures-macrocephaly-obesity syndrome10.0POMGNT1, POMT1
11muscular dystrophy-dystroglycanopathy , type a, 110.0
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 19.4DMD, ITGA7
17longitudinal vaginal septum9.4DMD, FKTN
18medial medullary syndrome9.3FKTN, POMGNT1, POMGNT2, POMT1
19ectodermal dysplasia9.2DMD, FKTN, LAMA2
20immunodeficiency 34, mycobacteriosis, x-linked9.1DMD, ITGA7, LAMA2
21median arcuate ligament syndrome9.0DMD, FKTN, LAMA2, POMT1
22colon cancer, advanced somatic8.5DMD, FKTN, POMGNT1, POMGNT2, POMT1
23nonsyndromic deafness8.1DMD, FKTN, LAMA2, POMGNT1, POMGNT2, POMT1
24muscular dystrophy, congenital7.5DMD, FKTN, ITGA7, LAMA2, POMGNT1, POMGNT2
25muscular dystrophy-dystroglycanopathy , type b, 47.5DMD, 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

About this section

Symptoms by clinical synopsis from OMIM:

253800

Clinical features from OMIM:

253800

Symptoms:

 52 (show all 31)
  • hydrocephalus
  • brachycephaly
  • dolichocephaly
  • mask-like facies
  • glaucoma
  • visual impairment
  • cataract
  • myopia
  • optic atrophy
  • delayed speech and language development
  • pectus excavatum
  • seizures
  • muscular hypotonia
  • global developmental delay
  • gait disturbance
  • plagiocephaly
  • flexion contracture
  • intrauterine growth retardation
  • weak cry
  • dilated cardiomyopathy
  • ventriculomegaly
  • eeg abnormality
  • myopathy
  • emg abnormality
  • muscular dystrophy
  • type ii lissencephaly
  • aplasia/hypoplasia of the corpus callosum
  • retinal dysplasia
  • intellectual disability, severe
  • hypoglycosylation of alpha-dystroglycan
  • camptodactyly of finger

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

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

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


seizures

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

About this section

Interventional clinical trials:

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

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

About this section

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

id Genetic test Affiliating Genes
1 Fukuyama Congenital Muscular Dystrophy25 23 FKTN

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

About this section

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

34
Eye, Brain, Skeletal muscle

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

About this section

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

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053847.6DMD, FKTN, ITGA7, LAMA2, POMGNT1, POMGNT2
2MP:00053697.6DMD, FKTN, ITGA7, LAMA2, POMGNT1, POMT1
3MP:00036317.4DMD, FKTN, ITGA7, LAMA2, POMGNT1, POMGNT2
4MP:00053787.4DMD, FKTN, ITGA7, LAMA2, POMGNT1, POMGNT2
5MP:00053767.4DMD, FKTN, ITGA7, LAMA2, POMGNT1, POMGNT2
6MP:00107686.9DMD, FKTN, ITGA7, LAMA2, POMGNT1, POMGNT2

Publications for Muscular Dystrophy-Dystroglycanopathy , Type a, 4

About this section

Variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 4

About this section

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

68
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
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

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

About this section
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

About this section

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

About this section

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
2protein O-linked mannosylationGO:00352699.1FKTN, POMGNT2, POMT1
3extracellular matrix organizationGO:00301988.9ITGA7, LAMA2, POMT1
4muscle organ developmentGO:00075178.3DMD, FKTN, ITGA7, LAMA2

Sources for Muscular Dystrophy-Dystroglycanopathy , Type a, 4

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet