Details of Disease

General Information of Disease (ID: DISGM0K5)

Disease Name Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Synonyms
congenital muscular dystrophy, Fukuyama type; muscular dystrophy-dystroglycanopathy (congenital with Brain and eye anomalies) type A, 4; Walker-Warburg syndrome or muscle-eye-brain disease, FKTN-related; FCMD; Fukuyama Type Congenital Muscular Dystrophy; Fukuyama congenital muscular dystrophy; MDDGA4; muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4; muscle-eye-brain-FKTN related
Definition
Fukuyama type muscular dystrophy (FCMD) is a congenital progressive muscular dystrophy characterized by brain malformation (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit, epilepsy and motor impairment.
Disease Hierarchy
DISZTBC4: Muscular dystrophy-dystroglycanopathy, type A
DISJUOQB: Muscle-eye-brain disease
DISXRJUG: Myopathy caused by variation in FKTN
DISGM0K5: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Disease Identifiers
MONDO ID
MONDO_0009678
MESH ID
D058494
UMLS CUI
C0410174
OMIM ID
253800
MedGen ID
140820
Orphanet ID
272
SNOMED CT ID
111502003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 5 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
DAG1 TT4X7PG Limited Genetic Variation [1]
DMD TTWLFXU Strong Biomarker [2]
DYSF TTA7MXQ Strong Biomarker [3]
POLA1 TTGPJ0U Strong Biomarker [4]
SGCG TTSMT9W Strong Genetic Variation [5]
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This Disease Is Related to 13 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CRPPA OTC85K8Q Limited Biomarker [6]
FKRP OTMUZ7GH Limited Genetic Variation [7]
LARGE1 OTUH7H9F Limited Genetic Variation [8]
POMGNT1 OTBNOUZC Limited Biomarker [9]
POMT2 OTO1ZQZX Limited Genetic Variation [10]
ANO5 OTOW8R6H Strong Genetic Variation [10]
CD109 OTDADBM4 Strong Biomarker [4]
DTNBP1 OT9UQT2S Strong Altered Expression [2]
LAMA2 OTFROQWE Strong Biomarker [3]
MYF6 OTLLMHMI Strong Altered Expression [11]
MYOG OTPLJKFA Strong Altered Expression [11]
SSPN OTYG2SL7 Strong Altered Expression [12]
FKTN OTQ9GCXL Definitive Autosomal recessive [13]
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⏷ Show the Full List of 13 DOT(s)

References

1 Contribution of dysferlin deficiency to skeletal muscle pathology in asymptomatic and severe dystroglycanopathy models: generation of a new model for Fukuyama congenital muscular dystrophy.PLoS One. 2014 Sep 8;9(9):e106721. doi: 10.1371/journal.pone.0106721. eCollection 2014.
2 Dysbindin, syncoilin, and beta-synemin mRNA levels in dystrophic muscles.Int J Neurosci. 2010 Feb;120(2):144-9. doi: 10.3109/00207450903279717.
3 Designing Effective Antisense Oligonucleotides for Exon Skipping.Methods Mol Biol. 2018;1687:143-155. doi: 10.1007/978-1-4939-7374-3_10.
4 Deficiency of a 180-kDa extracellular matrix protein in Fukuyama type congenital muscular dystrophy skeletal muscle.Neuromuscul Disord. 2002 Feb;12(2):117-20. doi: 10.1016/s0960-8966(01)00251-6.
5 Tips to Design Effective Splice-Switching Antisense Oligonucleotides for Exon Skipping and Exon Inclusion.Methods Mol Biol. 2018;1828:79-90. doi: 10.1007/978-1-4939-8651-4_5.
6 Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of -dystroglycan.Nat Genet. 2012 May;44(5):581-5. doi: 10.1038/ng.2253.
7 Novel FKRP mutations in a Japanese MDC1C sibship clinically diagnosed with Fukuyama congenital muscular dystrophy.Brain Dev. 2017 Nov;39(10):869-872. doi: 10.1016/j.braindev.2017.05.013. Epub 2017 Jun 17.
8 The role of defective glycosylation in congenital muscular dystrophy.Glycoconj J. 2004;20(5):291-300. doi: 10.1023/B:GLYC.0000033626.65127.e4.
9 Fukuyama-type congenital muscular dystrophy (FCMD) and alpha-dystroglycanopathy.Congenit Anom (Kyoto). 2003 Jun;43(2):97-104. doi: 10.1111/j.1741-4520.2003.tb01033.x.
10 Muscular dystrophies due to glycosylation defects.Neurotherapeutics. 2008 Oct;5(4):627-32. doi: 10.1016/j.nurt.2008.08.005.
11 Aberrant neuromuscular junctions and delayed terminal muscle fiber maturation in alpha-dystroglycanopathies.Hum Mol Genet. 2006 Apr 15;15(8):1279-89. doi: 10.1093/hmg/ddl045. Epub 2006 Mar 10.
12 Reduced expression of sarcospan in muscles of Fukuyama congenital muscular dystrophy.Histol Histopathol. 2008 Dec;23(12):1425-38. doi: 10.14670/HH-23.1425.
13 A new mutation of the fukutin gene in a non-Japanese patient. Ann Neurol. 2003 Mar;53(3):392-6. doi: 10.1002/ana.10491.