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GENATLAS PHENOTYPE

last update : 23-05-2017

Symbol	SRNIA
Location	10q22.1
Name	steroid-resistant nephrotic syndrome with ichthyosis and adrenal insufficiency
Other name(s)	nephrotic syndrome-14
Corresponding gene	SGPL1
Other symbol(s)	NPHS14
Main clinical features	steroid-resistant nephrotic syndrome with facultative ichthyosis, adrenal insufficiency, immunodeficiency, hypogonadism, and neurological defects distinct multisystemic disorder of sphingolipid metabolism
Genetic determination	autosomal recessive
Function/system disorder	kidney and urinary tract
	neurology
	defense and immunity
Type	disease

Remark(s)

. mutations resulted in reduced or absent SGPL1 protein and/or enzyme activity (PMID: 28165339))