 Walker-Warburg Syndrome
"Walker-Warburg Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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.
| Descriptor ID |
D058494
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| MeSH Number(s) |
C10.500.507.249.249.500 C11.270.881 C16.131.666.507.186.249.500 C16.320.577.750
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| Concept/Terms |
Walker-Warburg Syndrome- Walker-Warburg Syndrome
- Syndrome, Walker-Warburg
- Walker Warburg Syndrome
- Warburg Syndrome
- Syndrome, Warburg
- Chemke Syndrome
- Syndrome, Chemke
Muscle-Eye-Brain Disease- Muscle-Eye-Brain Disease
- Muscle-Eye-Brain Diseases
- MEB (Muscle-Eye-Brain) Syndrome
- Muscle Eye Brain Disease
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Below are MeSH descriptors whose meaning is more general than "Walker-Warburg Syndrome".
Below are MeSH descriptors whose meaning is more specific than "Walker-Warburg Syndrome".
This graph shows the total number of publications written about "Walker-Warburg Syndrome" by people in this website by year, and whether "Walker-Warburg Syndrome" was a major or minor topic of these publications.
To see the data from this visualization as text, click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2011 | 1 | 1 | 2 | | 2012 | 1 | 0 | 1 | | 2013 | 1 | 0 | 1 | | 2017 | 1 | 0 | 1 |
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Below are the most recent publications written about "Walker-Warburg Syndrome" by people in Profiles.
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Leibovitz Z, Mandel H, Falik-Zaccai TC, Ben Harouch S, Savitzki D, Krajden-Haratz K, Gindes L, Tamarkin M, Lev D, Dobyns WB, Lerman-Sagie T. Walker-Warburg syndrome and tectocerebellar dysraphia: A novel association caused by a homozygous DAG1 mutation. Eur J Paediatr Neurol. 2018 May; 22(3):525-531.
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Radmanesh F, Caglayan AO, Silhavy JL, Yilmaz C, Cantagrel V, Omar T, Rosti B, Kaymakcalan H, Gabriel S, Li M, Sestan N, Bilguvar K, Dobyns WB, Zaki MS, Gunel M, Gleeson JG. Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities. Am J Hum Genet. 2013 Mar 07; 92(3):468-74.
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Willer T, Lee H, Lommel M, Yoshida-Moriguchi T, de Bernabe DB, Venzke D, Cirak S, Schachter H, Vajsar J, Voit T, Muntoni F, Loder AS, Dobyns WB, Winder TL, Strahl S, Mathews KD, Nelson SF, Moore SA, Campbell KP. ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome. Nat Genet. 2012 May; 44(5):575-80.
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Labelle-Dumais C, Dilworth DJ, Harrington EP, de Leau M, Lyons D, Kabaeva Z, Manzini MC, Dobyns WB, Walsh CA, Michele DE, Gould DB. COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans. PLoS Genet. 2011 May; 7(5):e1002062.
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Hoang QV, Blair MP, Rahmani B, Galasso JM, Shapiro MJ. Multiple retinal holes and peripheral nonperfusion in muscle-eye-brain disease. Arch Ophthalmol. 2011 Mar; 129(3):373-5.
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