Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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EAST syndrome

EAST syndrome is an autosomal recessive disorder characterized by seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance

Symptoms

Deafness
Sensorineural deafness in EAST syndrome results from endolyphatic electrolyte dysbalance.

Systematic

Hereditary Salt-wasting tubulopathies
Bartter syndrome
EAST syndrome
KCNJ10
Gitelman syndrome
Hypomagnesemia

References:

1.

Grant B et al. (1997) Structure, function, and expression of SEL-1, a negative regulator of LIN-12 and GLP-1 in C. elegans.

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2.

Biunno I et al. (1997) Isolation of a pancreas-specific gene located on human chromosome 14q31: expression analysis in human pancreatic ductal carcinomas.

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3.

Donoviel DB et al. (1999) SEL-1L maps to human chromosome 14, near the insulin-dependent diabetes mellitus locus 11.

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4.

Harada Y et al. (1999) Complete cDNA sequence and genomic organization of a human pancreas-specific gene homologous to Caenorhabditis elegans sel-1.

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5.

Kao WH et al. (2008) MYH9 is associated with nondiabetic end-stage renal disease in African Americans.

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6.

Kopp JB et al. (2008) MYH9 is a major-effect risk gene for focal segmental glomerulosclerosis.

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7.

OMIM.ORG article

Omim 607832 external link
Update: Aug. 14, 2020
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