Orphanet: Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3

(*) Required fields.

You are (*)

If you have selected the “Other” category, please specify which type of user you are: *

Email address: *

Topic of your comment *

Epidemiology data

Clinical signs

Nomenclature and/or coding

Your message *

(3000 characters remaining)

Attention

Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Check this box if you wish to receive a copy of your message

Please reproduce the text below: *

Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3

Disease definition

Combined oxidative phosphorylation deficiency type 3 is an extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy.

ORPHA:168566

Classification level: Disorder

Synonym(s):
- Fatal mitochondrial disease due to COXPD3
Prevalence: <1 / 1 000 000
Inheritance: Autosomal recessive
Age of onset: Infancy, Neonatal
ICD-10: E88.8
OMIM: 610505
UMLS: C1864840
MeSH: -
GARD: -
MedDRA: -

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.

The portal for rare diseases and orphan drugs

Search for a rare disease

Other search option(s)

Topic of your comment *

Your message *

Attention

Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3

ORPHA:168566

Further information on this disease

Health care resources for this disease

Research activities on this disease

Specialised Social Services