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Walker-Warburg Syndrome

Rare autosomal recessive lissencephaly type 2 associated with congenital MUSCULAR DYSTROPHY and eye anomalies (e.g., RETINAL DETACHMENT; CATARACT; MICROPHTHALMOS). It is often associated with additional brain malformations such as HYDROCEPHALY and cerebellar hypoplasia and is the most severe form of the group of related syndromes (alpha-dystroglycanopathies) with common congenital abnormalities in the brain, eye and muscle development.
Also Known As:
COD-MD Syndrome; Cerebroocular Dysplasia-Muscular Dystrophy Syndrome; Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies, Type A1; Fukuyama CMD; Fukuyama Muscular Dystrophy; Fukuyama Syndrome; HARD Syndrome; Hydrocephalus, Agyria, And Retinal Dysplasia; LGMD2K; MDDGA1; MEB (Muscle-Eye-Brain) Syndrome; Muscle Eye Brain Disease; Muscle-Eye-Brain Disease, POMT1-Related; Muscular Dystrophy due to Defective Glycosylation of Dystroglycan 4A; Muscular Dystrophy, Limb-Girdle, Autosomal Recessive, With Mental Retardation; Muscular Dystrophy, Limb-Girdle, Type 2K; Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies), Type A, 1; Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1; Pagon Syndrome; Walker-Warburg Syndrome, Fktn-Related; CMD, Fukuyama; COD MD Syndrome; COD-MD Syndromes; Cerebroocular Dysplasia Muscular Dystrophy Syndrome; Congenital Muscular Dystrophy Dystroglycanopathy with Brain and Eye Anomalies, Type A1; Disease, POMT1-Related Muscle-Eye-Brain; Dystrophy, Fukuyama Muscular; Fktn-Related Walker-Warburg Syndrome; Fktn-Related Walker-Warburg Syndromes; HARD Syndromes; Muscle Eye Brain Disease, POMT1 Related; Muscle-Eye-Brain Diseases; Muscle-Eye-Brain Diseases, POMT1-Related; Muscular Dystrophy, Fukuyama; POMT1-Related Muscle-Eye-Brain Disease; POMT1-Related Muscle-Eye-Brain Diseases; Pagon Syndromes; Syndrome, COD-MD; Syndrome, Chemke; Syndrome, Fktn-Related Walker-Warburg; Syndrome, Fukuyama; Syndrome, HARD; Syndrome, Pagon; Syndrome, Walker-Warburg; Syndrome, Warburg; Walker Warburg Syndrome; Walker Warburg Syndrome, Fktn Related; alpha Dystroglycanopathies; Cerebromuscular Dystrophy, Fukuyama Type; Chemke Syndrome; Fukuyama Congenital Muscular Dystrophy; Fukuyama Type Congenital Muscular Dystrophy; Muscle-Eye-Brain Disease; Muscular Dystrophy, Congenital, Fukuyama Type; Warburg Syndrome; alpha-Dystroglycanopathies
Networked: 277 relevant articles (2 outcomes, 15 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Muscular Dystrophies (Muscular Dystrophy)
2. Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker)
3. Myotonic Dystrophy (Dystrophia Myotonica)
4. Sarcoglycanopathies
5. Muscular Diseases (Myopathy)

Experts

1. Toda, Tatsushi: 26 articles (10/2021 - 03/2002)
2. Endo, Tamao: 20 articles (01/2016 - 03/2002)
3. Manya, Hiroshi: 16 articles (01/2016 - 03/2002)
4. Kobayashi, Kazuhiro: 14 articles (01/2018 - 03/2002)
5. Muntoni, Francesco: 10 articles (01/2018 - 11/2002)
6. Nishino, Ichizo: 9 articles (10/2021 - 03/2002)
7. Yamamoto, Tomoko: 8 articles (11/2021 - 11/2002)
8. Muntoni, F: 8 articles (01/2021 - 08/2000)
9. Kanagawa, Motoi: 8 articles (01/2018 - 12/2006)
10. Voit, Thomas: 8 articles (01/2013 - 03/2002)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Walker-Warburg Syndrome:
1. SteroidsIBA
2. Dystroglycans (Dystroglycan)IBA
3. protein O-mannose beta-1,2-N-acetylglucosaminyltransferaseIBA
4. Mannose (D-Mannose)IBA
05/10/2007 - "We tested the hypothesis that breaches in basement membrane and the underlying glia limitans are the key initial events of the cellular pathomechanisms by carrying out a detailed developmental study with a mouse model of muscle-eye-brain disease, mice deficient in O-mannose beta1,2-N-acetylglucosaminyltransferase 1 (POMGnT1). "
03/01/2007 - "We tested the hypothesis that breaches in basement membrane and the underlying glia limitans are the key initial events of the cellular pathomechanisms by carrying out a detailed developmental study with a mouse model of muscle-eye-brain disease, mice deficient in O-mannose beta31,2-N-acetylglucosaminyltransferase 1 (POMGnT1). "
08/01/2012 - "To overcome this limitation, here, we focused on a novel host-vector system in zebrafish for the expression of human protein O-linked mannose β-1,2-N-acetylglucosaminyltransferase 1 (hPOMGnT1) which is related to muscle-eye-brain disease. "
01/01/2019 - "Deficiency of Dolichol-P-mannose synthase subunit 3 (DPM3) affects the N-glycosylation and O-mannosylation pathways that are respectively involved in congenital disorders of glycosylation (CDG) and alpha-dystroglycanopathies. "
01/01/2010 - "We demonstrated that patients with muscle-eye-brain disease and Fukuyama congenital muscular dystrophy, as well as mice with myodystrophy, commonly have defects in a postphosphoryl modification of this phosphorylated O-linked mannose, and that this modification is mediated by the like-acetylglucosaminyltransferase (LARGE) protein. "
5. Proteins (Proteins, Gene)FDA Link
6. Laminin (Merosin)IBA
7. EnzymesIBA
8. ConnectinIBA
9. Sarcoglycans (beta Sarcoglycan)IBA
10. Extracellular Matrix ProteinsIBA

Therapies and Procedures

1. Therapeutics
2. Anesthesia
3. Ventriculoperitoneal Shunt
4. Gastrostomy
5. Intravenous Anesthesia