CEROID LIPOFUSCINOSIS, NEURONAL, 13

Question 1

What is  CEROID LIPOFUSCINOSIS, NEURONAL, 13?

Accepted Answer

rare
autosomal recessive
mutation in the CTSF gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

CLN13-Krankheit

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 615362

Question 4

Which enzymes are involved?

Accepted Answer

Cathepsin F

Disease	CEROID LIPOFUSCINOSIS, NEURONAL, 13
Synonym	CLN13; CEROID LIPOFUSCINOSIS, NEURONAL, 13, KUFS TYPE
OMIM	615362 OMIM = Online Mendelian Inheritance of Men
Orphanet	352709
Protein (UniProt)	Cathepsin F
ExPASy	3.4.22.41
Gene locus	11q13.2
ICD	E75.4
Summary	rare autosomal recessive mutation in the CTSF gene
Laboratory findings
Symptoms	ataxia behavior, abnormal or bizarre, confusion cerebellar atrophy or hypoplasia cerebral atrophy dementia depression dysarthria dyskinesia extrapyramidal signs hyperreflexia myoclonus onset, adulthood seizures tremor or twitching