| Concept UI |
CON00377 (Tree)
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| Name |
POMGNT1-CDG (cong. muscular dystrophy spectrum)
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| Aliases |
Muscle-eye-brain disease (MEB)
Muscular dystrophy-dystroglycanopathy (Congenital with brain and eye anomalies), type A, 3 (MDDGA3)
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| Disease name: Preferred Term |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3
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| Disease name: Preferred Term ABBR |
MDDGA3
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| Disease name: Synonyms (from OMIM and MeSH) |
WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED
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| UMLS CUI |
C0457133
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| UMLS SAB |
MeSH
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| UMLS CODE |
D058494
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| OMIM DATA: Gene |
POMGNT1
|
| OMIM DATA: Gene Number |
606822
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| OMIM DATA: Phenotype Number |
253280
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Symptoms, signs and abnormal clinical and laboratory findings
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- Blindness (Vision loss)
- Brain Diseases
- Cataract
- Corneal Diseases
- Corneal Opacity (Corneal clouding)
- Craniofacial Abnormalities
- Developmental Disabilities
- Dyskinesias
- Eye Abnormalities
- Eye Diseases
- Glaucoma
- Hydrocephalus
- Intellectual Disability (Mental Retardation)
- Intracranial Hypertension
- Language Disorders
- Lens Diseases
- Macrocephaly
- Malformations of Cortical Development
- Mental Disorders Diagnosed in Childhood
- Microcephaly
- Mobility Limitation
- Motor Skills Disorders
- Muscle Hypertonia
- Muscle Hypotonia
- Muscle Spasticity
- Muscle Weakness
- Muscular Atrophy (Muscle wasting)
- Muscular Diseases
- Myoclonus
- Nervous System Diseases
- Nervous System Malformations
- Neurobehavioral Manifestations
- Neurologic Manifestations
- Neuromuscular Manifestations
- Ocular Hypertension
- Retinal Degeneration
- Retinal Diseases
- Seizures
- Signs and Symptoms
- Speech Disorders
- Vision Disorders
- Vision, Low
- Central Nervous System Cysts
- Cerebellar Diseases
- Cobblestone Lissencephaly
- Coloboma
- Epilepsy
- Eye Diseases, Hereditary
- Hydrophthalmos (Buphthalmos)
- 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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- 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, Schachter H (2009) Genetic Disorders of Glycosylation. pp 585-600. Table 42.1 Genetic defects of glycan synthesis in humans.
- 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.
- Cummings RD, Pierce JM (eds) (2009) Handbook of Glycomics. Elsevier. ISBN:9780123736000. Freeze HH, Eklund E (2009) Introduction to Human Glycosylation Disorders. pp 431-464.
- Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462.
- Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Table 1 Diseases of glycosylation.
- Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551.
- 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.
- 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.
- Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317.
- 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.
- 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 |
101
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GGDB (Gene Symbol)
Link to the GlycoGene Database |
POMGNT1
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