Skip to main content

RareConnect.ioRare Intelligence

Explore Data Discover Patient Groups News Partner

Sign In Sign Up

Explore Data Patient Groups News Partner

RareConnect.ioRare Intelligence

Combining the speed of AI with the wisdom of the community to build the world's most accurate disease registry.

Explore

Disease Directory
Patient Groups
News
FAQ
MONDO Ontology ↗

Get Involved

Partner with Us
Register Your PAG
Community
Pricing

Legal

Privacy Policy
Terms of Service
Accessibility
Contact Us

© 2025 RareConnect.io. Powered by MONDO Ontology

mitochondrial complex V (ATP synthase) deficiency, nuclear type 4B | RareConnect | RareConnect.io

/mitochondrial respiratory chain complex deficiency

/mitochondrial proton-transporting ATP synthase complex deficiency

/mitochondrial complex V (ATP synthase) deficiency, nuclear type 4B

mitochondrial complex V (ATP synthase) deficiency, nuclear type 4B

Rare Disease

MONDO:0014091

Also Known As

ATP5F1A mitochondrial complex deficiencyMC5DN4Bmitochondrial complex deficiency caused by mutation in ATP5F1Amitochondrial Complex 5 (ATP synthase) deficiency, ATP5A1 typemitochondrial Complex 5 (ATP synthase) deficiency, nuclear type 4mitochondrial complex V (ATP synthase) deficiency, nuclear type 4

Definition

Any mitochondrial complex deficiency in which the cause of the disease is a mutation in the ATP5F1A gene.

Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

Checking for content...

Associated Genes

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:615228 ↗

GARD

Related Diseases

mitochondrial complex V (ATP synthase) deficiency, nuclear type 1

MONDO:0011421

mitochondrial complex V (ATP synthase) deficiency, nuclear type 2

MONDO:0013546

mitochondrial complex V (ATP synthase) deficiency, nuclear type 3

MONDO:0013547

mitochondrial complex III deficiency

MONDO:0015448

combined oxidative phosphorylation deficiency 22

MONDO:0020727

mitochondrial complex V (ATP synthase) deficiency, nuclear type 5

MONDO:0020858

← Back to All Diseases