MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE); MTDPS7

Question 1

What is  MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE); MTDPS7?

Accepted Answer

rare
autosomal recessive
mutation in the C10ORF2 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Ataxie, infantile spinozerebelläre; IOSCA; MTDPS7

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 271245

Question 4

Which enzymes are involved?

Accepted Answer

Twinkle protein, mitochondrial

Disease	MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE); MTDPS7
Synonym	OHAHA SYNDROME; SPINOCEREBELLAR ATAXIA, INFANTILE-ONSET; IOSCA
OMIM	271245 OMIM = Online Mendelian Inheritance of Men
Orphanet	1186
Protein (UniProt)	Twinkle protein, mitochondrial
Gene locus	10q24.31
ICD	G11.1
Summary	rare autosomal recessive mutation in the C10ORF2 gene
Laboratory findings
Symptoms	ataxia cerebellar atrophy or hypoplasia defect of walking, running, rising or climbing EEG abnormalities [-] epilepsy eye movements, abnormal headache (severe, recurrent or occipital, migraine) hearing defect, deafness hypogonadism hypotonia learning disability mental retardation muscle weakness nystagmus onset, childhood onset, infancy ophthalmoplegia optic atrophy peripheral neuropathy psychosis seizures status epilepticus