Warburg micro syndrome

Common Name(s)

Warburg micro syndrome

Warburg Micro syndrome is a rare autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism (summary by {9:Morris-Rosendahl et al., 2010}). Genetic Heterogeneity of Warburg Micro Syndrome Warburg Micro syndrome-2 (WARBM2; {614225}) is caused by mutation in the RAB3GAP2 gene ({609275}) on chromosome 1q41. WARBM3 ({614222}) is caused by mutation in the RAB18 gene ({602207}) on chromosome 10p12.1. WARBM4 ({615663}) is caused by mutation in the TBC1D20 gene ({611663}) on chromosome 20p13. See also Martsolf syndrome ({212720}), a clinically overlapping but milder autosomal recessive disorder caused by autosomal recessive mutation in the RAB3GAP2 gene. {7:Handley et al. (2013)} provided an overview of the disease variants identified in the RAB3GAP1, RAB3GAP2, and RAB18 genes, noting that a total of 144 families with WARBM and 9 families with Martsolf syndrome had been studied. Mutations were identified in RAB3GAP1 in 41% of cases, in RAB3GAP2 in 7% of cases, and in RAB18 in 5% of cases. Although RAB18 had not been linked to RAB3 pathways, {7:Handley et al. (2013)} stated that mutations in all 3 genes cause an indistinguishable phenotype, making it likely that there is some functional overlap.
 

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Condition Specific Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Warburg micro syndrome" returned 8 free, full-text research articles on human participants. First 3 results:

Warburg micro syndrome type 1 associated with peripheral neuropathy and cardiomyopathy.
 

Author(s): D Kabzińska, H Mierzewska, J Senderek, A Kochański

Journal: Folia Neuropathol. 2016 ;54(3):273-281.

 

The Warburg micro syndrome (WARBM) is a genetically heterogeneous syndrome linked to at least 4 loci. At the clinical level, WARBM is characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, corpus callosum hypoplasia, severe mental retardation, and hypogonadism. ...

Last Updated: 20 Oct 2016

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RAB18, a protein associated with Warburg Micro syndrome, controls neuronal migration in the developing cerebral cortex.
 

Author(s): Qinwei Wu, Xiaqin Sun, Weihua Yue, Tianlan Lu, Yanyan Ruan, Tianda Chen, Dai Zhang

Journal:

 

Loss of function mutations in RAB18, has been identified in patients with the human neurological and developmental disorder Warburg Micro syndrome. However, the function of RAB18 in brain remains unknown.

Last Updated: 16 Feb 2016

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A RAB3GAP1 SINE Insertion in Alaskan Huskies with Polyneuropathy, Ocular Abnormalities, and Neuronal Vacuolation (POANV) Resembling Human Warburg Micro Syndrome 1 (WARBM1).
 

Author(s): Michaela Wiedmer, Anna Oevermann, Stephanie E Borer-Germann, Daniela Gorgas, G Diane Shelton, Michaela Drögemüller, Vidhya Jagannathan, Diana Henke, Tosso Leeb

Journal:

 

We observed a hereditary phenotype in Alaskan Huskies that was characterized by polyneuropathy with ocular abnormalities and neuronal vacuolation (POANV). The affected dogs developed a progressive severe ataxia, which led to euthanasia between 8 and 16 months of age. The pedigrees ...

Last Updated: 5 Feb 2016

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Reviews from the PubMed Database

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