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What (who) is MEDNIK syndrome - definition
MEDNIK syndrome
A SYNDROME CHARACTERIZED BY MENTAL RETARDATION, ENTEROPATHY, DEAFNESS, PERIPHERAL NEUROPATHY, ICHTHYOSIS, AND KERATODERMA. IT IS CAUSE BY HOMOZYGOUS MUTATION IN THE AP1S1 GENE ON CHROMOSOME 7Q22.
MEDNIK Syndrome; Mednik
MEDNIK syndrome (OMIM#609313), also known as "syndrome de Kamouraska" (syndrome from Kamouraska), is a genetic disorder that is caused by mutations to the AP1S1 gene. Transmission of the disease is believed to be autosomal recessive.
Reye's syndrome
SYNDROME CHARACTERIZED BY ACUTE BRAIN DAMAGE AND LIVER FUNCTION PROBLEMS
Reyes Syndrome; Reye Syndrome; Reye's Syndrome; Reyes syndrome; Reye’s Syndrome; Reye hepatocerebral syndrome; Rye syndrome; Reye s syndrome; Reye's s syndrome; Reye's syndrome; Reye’s syndrome
['re?z, 'r??z]
¦ noun a life-threatening metabolic disorder in young children, of uncertain cause.
Origin
1960s: named after the Australian paediatrician Ralph D. K. Reye.
Frey's syndrome
HUMAN DISEASE
Auriculotemporal syndrome; Frey syndrome
Frey's syndrome (also known as Baillarger's syndrome, Dupuy's syndrome, auriculotemporal syndrome, or Frey-Baillarger syndrome) is a rare neurological disorder resulting from damage to or near the parotid glands responsible for making saliva, and from damage to the auriculotemporal nerve often from surgery.
