Alstrom syndrome


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Al·ström syn·drome

(ahl'strem), [MIM*203800]
retinal degeneration with nystagmus and loss of central vision, associated with obesity in childhood; sensorineural hearing loss and diabetes mellitus usually occur after age 10; autosomal recessive inheritance.

Alström syndrome

(ăl′strəm, äl′strœm)
n.
An inherited syndrome marked by retinal degeneration with nystagmus and loss of central vision, nerve deafness, childhood obesity, type 2 diabetes, and other conditions.

Alström syndrome

Alström-Hallgren syndrome, retino-otodiabetic syndrome Ophthalmology An AR condition characterized by progressive blindness, type 1 DM, obesity, deafness, normal mental capacity

Als·tröm syn·drome

(ahl'strem sin'drōm)
Retinal degeneration with nystagmus and loss of central vision, associated with obesity in childhood; sensorineural hearing loss and diabetes mellitus usually occur after age 10 years;autosomal recessive inheritance; associated with the ALMS1 gene.

Alström,

Carl-Henry, Swedish geneticist, 1907–.
Alström syndrome - retinal degeneration with nystagmus and loss of central vision.
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References in periodicals archive ?
Mothers like Mrs Shah, who is from Leytonstone, east London, are hoping that medical research will develop a cure for Alstrom Syndrome to help their children before it is too late.
Full-field electroretinography and marked variability in clinical phenotype of Alstrom syndrome.
Alms1-disrupted mice recapitulate human Alstrom syndrome.
Alstrom Syndrome protein ALMS1 localizes to basal bodies of cochlear hair cells and regulates cilium-dependent planar cell polarity.
A role for Alstrom syndrome protein, Alms1, in kidney ciliogenesis and cellular quiescence.
Regulation of Alstrom syndrome gene expression during adipogenesis and its relationship with fat cell insulin sensitivity.
Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alstrom syndrome.
Spectrum ofALMS1 variants and evaluation of genotype-phenotype correlations in Alstrom syndrome.
Arrayed Primer Extension (APEX) technology simplifies mutation detection in BardetBiedl and Alstrom Syndrome.