CYSTINOSIS, ADULT NONNEPHROPATHIC

Question 1

What is  CYSTINOSIS, ADULT NONNEPHROPATHIC?

Accepted Answer

test
rare(1:100000)
autosomal recessive
3 different types:
- infantile nephropathic (219800) -> most frequent form
- adult nonnephropathic (219750)
nephropathic cystinosis:
- early onset: 6-18 months
- late onset: 4-26 years
nonnnephropathic cystinosis:
- late onset, adult, benign

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Cystinose, okuläre, Erwachsenenform

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 219750

Question 4

Which enzymes are involved?

Accepted Answer

Cystinosin

Disease	CYSTINOSIS, ADULT NONNEPHROPATHIC
Synonym	CYSTINOSIS, OCULAR NONNEPHROPATHIC
OMIM	219750 OMIM = Online Mendelian Inheritance of Men
Orphanet	411641
Protein (UniProt)	Cystinosin
Gene locus	17p13
ICD	E72.0
Summary	test rare(1:100000) autosomal recessive 3 different types: - infantile nephropathic (219800) -> most frequent form - adult nonnephropathic (219750) nephropathic cystinosis: - early onset: 6-18 months - late onset: 4-26 years nonnnephropathic cystinosis: - late onset, adult, benign
Laboratory findings
Symptoms	corneal deposits onset, adulthood photophobia or photosensitive defect in light-exposed area