What is KCNJ10 DEFICIENY?

very rare autosomal recessive mutation in the KCNJ10 gene

Which enzymes are involved?

ATP-sensitive inward rectifier potassium channel 10

Disease	KCNJ10 DEFICIENY
Synonym	EAST-SYNDROME; SESAME-SYNDROME
OMIM	612780 OMIM = Online Mendelian Inheritance of Men
Orphanet	199343
Protein (UniProt)	ATP-sensitive inward rectifier potassium channel 10
Gene locus	1q23.2
ICD
Summary	very rare autosomal recessive mutation in the KCNJ10 gene
Laboratory findings	Aldosterone inc (plasma) Calcium dec (serum) Magnesium dec (serum) Potassium dec (serum)
Symptoms	ataxia cerebellar atrophy or hypoplasia EEG abnormalities [-] enuresis nocturna epilepsy hearing defect, deafness hypotonia intellectual disability/intellectual developmental disorder metabolic alkalosis neuropathy onset, childhood onset, infancy onset, neonatal peripheral neuropathy polydipsia (increased drinking) polyuria psychomotor retardation seizures short stature speech development, delayed, abnormal tremor or twitching