| Concept UI |
CON00378 (Tree)
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| Name |
Fukuyama congenital muscular dystrophy
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| Aliases |
Fukuyama congenital muscular dystrophy (FCMD)
FKTN-CDG (cong. muscular dystrophy spectrum)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 (MDDGA4)
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| Disease name: Preferred Term |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4
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| Disease name: Preferred Term ABBR |
MDDGA4
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| Disease name: Synonyms (from OMIM and MeSH) |
Cerebromuscular dystrophy, Fukuyama type
FUKUYAMA CONGENITAL MUSCULAR DYSTROPHY
WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, FKTN-RELATED
Fukuyama CMD
FCMD
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| UMLS CUI |
C0410174
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| UMLS SAB |
MeSH
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| UMLS CODE |
D058494
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| OMIM DATA: Gene |
FKTN
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| OMIM DATA: Gene Number |
607440
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| OMIM DATA: Phenotype Number |
253800
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Symptoms, signs and abnormal clinical and laboratory findings
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- Brain Diseases
- Cataract
- Central Nervous System Diseases
- Contracture
- Deglutition Disorders (Swallowing difficulty)
- Developmental Disabilities
- Eye Abnormalities
- Eye Diseases
- Heart Diseases
- Hydrocephalus
- Intellectual Disability (Mental Retardation)
- Intracranial Hypertension
- Joint Diseases
- Language Disorders
- Lens Diseases
- Macroglossia
- Malformations of Cortical Development
- Mental Disorders Diagnosed in Childhood
- Mobility Limitation
- Motor Skills Disorders
- Muscle Hypotonia
- Muscle Weakness
- Muscular Atrophy (Muscle wasting)
- Muscular Diseases
- Nervous System Malformations
- Neurobehavioral Manifestations
- Neurologic Manifestations
- Neuromuscular Manifestations
- Ocular Motility Disorders
- Pharyngeal Diseases
- Respiration Disorders
- Respiratory Insufficiency
- Respiratory Tract Diseases
- Respiratory Tract Infections
- Retinal Degeneration
- Retinal Diseases
- Seizures
- Signs and Symptoms
- Speech Disorders
- Tongue Diseases
- Vision Disorders
- Vision, Low
- Cranial Nerve Diseases
- Cardiomyopathies
- Central Nervous System Cysts
- Cerebellar Diseases
- Cobblestone Lissencephaly
- Endomyocardial Fibrosis
- Epilepsy
- Esophageal Diseases
- Eye Diseases, Hereditary
- Hip Contracture
- Lissencephaly
- Microphthalmos
- Muscular Disorders, Atrophic
- Muscular Dystrophies
- Myopia
- Neuronal Migration Disorders
- Optic Atrophies, Hereditary
- Optic Atrophy
- Refractive Errors
- Retinal Dysplasia
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References
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- Jaeken J, Hennet T, Freeze HH, Matthijs G (2008) On the nomenclature of congenital disorders of glycosylation. J Inherit Metab Dis 31(6):669-672.
- Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. Table 1 Proposed nomenclature for CDG.
- Freeze HH, Schachter H (2009) Genetic Disorders of Glycosylation. pp 585-600. Table 42.1 Genetic defects of glycan synthesis in humans.
- Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583.
- Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016.
- Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551.
- Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Table 3 Human diseases caused by genetic defects in O-glycosylation and glycolipid synthesis pathways.
- Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Eklund EA, Bode L, Freeze HH (2007) Diseases Associated with Carbohydrates/Glycoconjugates. vol.4 pp 339-372.
- Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462.
- Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826.
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GDGDB (ID)
Link to the Glyco-Disease Genes Database |
103
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GGDB (Gene Symbol)
Link to the GlycoGene Database |
FCMD
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