COPPER CHAPERONE FOR SUPEROXIDE DISMUTASE (CCS)

Question 1

What is  COPPER CHAPERONE FOR SUPEROXIDE DISMUTASE (CCS)?

Accepted Answer

very rare
1 patient with hypotonia, hypoglycemia and pericardial effusion [Huppke P et al. 2012]

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Kupfer Chaperon für Superoxid dismutase

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 603864

Disease	COPPER CHAPERONE FOR SUPEROXIDE DISMUTASE (CCS)
OMIM	603864 OMIM = Online Mendelian Inheritance of Men
Orphanet	---
ExPASy	---
Gene locus	11q13.2 Detail information to gene locus by the National Center for Biotechnology Information NCBI: Copper chaperone for superoxide dismutase
ICD	---
Summary	very rare 1 patient with hypotonia, hypoglycemia and pericardial effusion [Huppke P et al. 2012]
Laboratory findings	Ceruloplasmin dec (serum) Copper dec (serum)
Symptoms	cataract cerebellar atrophy or hypoplasia cerebral atrophy defect of walking, running, rising or climbing hearing defect, deafness hypoglycemia hypotonia liver failure liver involvement or dysfunction MRI, brain, abnormalities [-] myelination, incomplete, hypomyelination nystagmus onset, neonatal pericardial effusion psychomotor retardation renal failure, acute/chronic seizures