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

Hennekam lymphangiectasia-lymphedema syndrome 1 | RareConnect | RareConnect.io

/Hennekam syndrome

/Hennekam lymphangiectasia-lymphedema syndrome 1

Hennekam lymphangiectasia-lymphedema syndrome 1

Rare Disease

MONDO:0009337

Also Known As

CCBE1 Hennekam syndromeHennekam lymphangiectasia-lymphedema syndrome 1Hennekam lymphangiectasia-lymphedema syndrome type 1Hennekam syndrome caused by mutation in CCBE1HKLLS1Hennekam lymphangiectasia-lymphedema syndromelymphatic dysplasia, generalisedlymphatic dysplasia, generalized

Definition

Any Hennekam syndrome in which the cause of the disease is a mutation in the CCBE1 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:235510 ↗

GARD

Related Diseases

Hennekam lymphangiectasia-lymphedema syndrome 2

MONDO:0014454

hennekam lymphangiectasia-lymphedema syndrome 3

MONDO:0032564

← Back to All Diseases