DENT DISEASE 1

Question 1

What is  DENT DISEASE 1?

Accepted Answer

rare

X-linked recessive

mutation in the CLCN5 gene

over 20% of patients did not have CLCN5 or OCRL1 mutations, suggesting the existence of other genetic factors [Zhang Y et al. 2017]

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 300009

Question 3

Which enzymes are involved?

Accepted Answer

H(+)/Cl(-) exchange transporter 5

Disease	DENT DISEASE 1
Synonym	NEPHROLITHIASIS, HYPERCALCIURIC, X-LINKED (CLCN5)
OMIM	300009 OMIM = Online Mendelian Inheritance of Men
Orphanet	93622
Protein (UniProt)	H(+)/Cl(-) exchange transporter 5
ExPASy	---
Gene locus	Xp11.23
ICD	N25.8
Summary	rare X-linked recessive mutation in the CLCN5 gene over 20% of patients did not have CLCN5 or OCRL1 mutations, suggesting the existence of other genetic factors [Zhang Y et al. 2017]
Laboratory findings	Calcium inc (urine) D-Glucose inc (urine) Phosphate inc (urine)
Symptoms	aminoaciduria bone fractures Fanconi syndrome growth retardation, poor growth limb abnormalities, limb deformities nephrocalcinosis no clinical symptoms (probably) onset, childhood onset, infancy pain, bones or joints proteinuria renal failure, acute/chronic rickets short stature urolithiasis, nephrolithiasis, kidney stones