CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE

Question 1

What is  CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE?

Accepted Answer

rare

autosomal recessive

3 different types:
nephropathic (219800) -> most frequent form
- juvenile or adolescent nephropathic (219900)
- adult nonnephropathic (219750)
nephropathic cystinosis:
- early onset: 6-18 months
- late onset: 4-26 years
nonnnephropathic cystinosis:
- late onset, adult, benign

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 219900

Question 3

Which enzymes are involved?

Accepted Answer

Cystinosin

Disease	CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE
Synonym	CYSTINOSIS, INTERMEDIATE
OMIM	219900 OMIM = Online Mendelian Inheritance of Men
Orphanet	411634
Protein (UniProt)	Cystinosin
ExPASy	---
Gene locus	17p13.2
ICD	E72.0+ N16.3*
Summary	rare autosomal recessive 3 different types: nephropathic (219800) -> most frequent form - juvenile or adolescent nephropathic (219900) - adult nonnephropathic (219750) nephropathic cystinosis: - early onset: 6-18 months - late onset: 4-26 years nonnnephropathic cystinosis: - late onset, adult, benign
Laboratory findings	Creatinine inc (serum)
Symptoms	aminoaciduria corneal deposits Fanconi syndrome onset, adolescent onset, childhood photophobia or photosensitive defect in light-exposed area proteinuria renal dysfunction, renal defects renal failure, chronic retinopathy rickets