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Alstromov syndróm

Č. záznamu	d056769
Dátum	06.06.2025
Typ	M - MESH
Tematický termín	Alstromov syndróm
Iný termín	Angličtina (Pseudonym) Alstrom's Syndrome
MDT	C10.500.300.099C10.574.500.495.099C10.668.829.800.300.099C11.270.684.249C16.131.077.245.063C16.131.666.300.099C16.320.184.063C16.320.290.684.249C16.320.400.375.099
Poznámka	Rare autosomal recessive disease characterized by multiple organ dysfunction. The key clinical features include retinal degeneration (NYSTAGMUS, PATHOLOGIC; RETINITIS PIGMENTOSA; and eventual blindness), childhood obesity, sensorineural hearing loss, and normal mental development. Endocrinologic complications include TYPE 2 DIABETES MELLITUS; HYPERINSULINEMIA; ACANTHOSIS NIGRICANS; HYPOTHYROIDISM; and progressive renal and hepatic failures. The disease is caused by mutations in the ALMS1 gene.

predmetové heslo

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