Hennekam lymphangiectasia-lymphedema syndrome 1
Findings
No curated finding names Hennekam lymphangiectasia-lymphedema syndrome 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Hennekam syndrome in which the cause of the disease is a mutation in the CCBE1 gene.
Definition from the Mondo Disease Ontology (MONDO:0009337), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
12 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Depressed nasal bridgeHPOHP:0005280
- 7 of 7 reported patients
- Flat faceHPOHP:0012368
- 7 of 7 reported patients
- HypertelorismHPOHP:0000316
- 7 of 7 reported patients
- Intestinal lymphangiectasiaHPOHP:0002593
- 7 of 7 reported patients
- LymphedemaHPOHP:0001004
- 7 of 7 reported patients
- Pulmonary lymphangiectasiaHPOHP:0006521
- 6 of 7 reported patients
- Pleural lymphangiectasiaHPOHP:0006531
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CCBE1HGNC:29426
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
Where it sits
- A kind of
Other names
3 names
Resolves to: Hennekam lymphangiectasia-lymphedema syndrome 1
- Also called
- CCBE1 Hennekam syndromeHennekam lymphangiectasia-lymphedema syndrome type 1Hennekam syndrome caused by mutation in CCBE1