HYPERCYSTINURIA - MOVED TO CYSTINURIA

Question 1

What is  HYPERCYSTINURIA -> MOVED TO CYSTINURIA?

Accepted Answer

rare
autosomal recessive
probably heterozygotes for cystinuria!

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Hyperzystinurie -> Zystinurie

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 220100

Question 4

Which enzymes are involved?

Accepted Answer

transport defect

Disease	HYPERCYSTINURIA -> MOVED TO CYSTINURIA
Synonym	HYPERCYSTINNURIA, ISOLATED
OMIM	220100 OMIM = Online Mendelian Inheritance of Men
Orphanet	214
Protein (UniProt)	transport defect
Gene locus	2q21, 19q13.11
ICD	E72.0
Summary	rare autosomal recessive probably heterozygotes for cystinuria!
Laboratory findings	Cystine inc (urine)
Symptoms	Amino acids, urine no clinical symptoms (probably) onset, adolescent onset, infancy