obesity due to CEP19 deficiency
MONDO:0014309Mondo
Findings
No curated finding names obesity due to CEP19 deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
11 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.
- Hepatic steatosisHPOHP:0001397
- 11 of 11 reported patients
- HypertensionHPOHP:0000822
- 11 of 11 reported patients
- OligozoospermiaHPOHP:0000798
- 6 of 6 reported patients · Male
- ObesityHPOHP:0001513
- 10 of 11 reported patients
- Decreased circulating HDL-C concentrationHPOHP:0003233
- 6 of 11 reported patients
- HypercholesterolemiaHPOHP:0003124
- 4 of 11 reported patients
- HypertriglyceridemiaHPOHP:0002155
- 4 of 11 reported patients
- Premature coronary artery atherosclerosisHPOHP:0005181
- 5 of 15 reported patients
- Intellectual disabilityHPOHP:0001249
- 3 of 11 reported patients
- Type II diabetes mellitusHPOHP:0005978
- 3 of 11 reported patients
- Elevated circulating LDL-C concentrationHPOHP:0003141
- 2 of 11 reported patients
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.
- CEP19HGNC:28209
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Moderate · Ambry Genetics · Autosomal recessive · 2024
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of