NEPHROTIC SYNDROME, TYPE 7 (NPHS7)

Question 1

What is  NEPHROTIC SYNDROME, TYPE 7 (NPHS7)?

Accepted Answer

rare
autosomal recessive

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Hämolytisch-urämisches Syndrom, atypische Form; NPHS7

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 615008

Question 4

Which enzymes are involved?

Accepted Answer

Diacylglycerol kinase epsilon (DGKE)

Disease	NEPHROTIC SYNDROME, TYPE 7 (NPHS7)
Synonym	HEMOLYTIC UREMIC SYNDROME, ATYPICAL
OMIM	615008 OMIM = Online Mendelian Inheritance of Men
Orphanet	2134
Protein (UniProt)	Diacylglycerol kinase epsilon (DGKE)
ExPASy	2.7.1.107
Gene locus	17q22
ICD	D58.8
Summary	rare autosomal recessive
Laboratory findings	Albumin normal/dec (serum) Creatinine inc (serum) Hemoglobine dec (blood) Thrombocytes, Platelets dec (blood)
Symptoms	anemia Hemolytic-uremic-syndrome nephrotic syndrome onset, childhood onset, infancy proteinuria renal failure, acute/chronic thrombopenia, thrombocytopenia