Endocrine, nutritional and metabolic diseases
Metabolic disorders
Autosomal recessive Multiple alleles and compounds
8p21.3
Hyperlipoproteinemia type I is an inherited disorder caused by lipoprotein lipase (LPL) deficiency, which impairs the effective breakdown of triglycerides. Symptoms exhibited by affected individuals include episodes of abdominal pain, recurrent acute pancreatitis, eruptive cutaneous xanthomata and hepatosplenomegaly. Mutations in the lipoprotein lipase (LPL) gene are responsible for causing Hyperlipoproteinemia type I.
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 238600.1.1 | Lebanon | Male | No | Yes | Episodic abdominal pain; Hypertriglycer... Episodic abdominal pain; Hypertriglyceridemia; Recurrent pancreatitis;  | NM_000237.3:c.602A>T | Homozygous | Autosomal, Recessive | Abifadel et al. 2004 | Proband from family ... |
| 238600.2.1 | Lebanon | Male | No | Yes | Episodic abdominal pain; Hypertriglycer... Episodic abdominal pain; Hypertriglyceridemia | NM_000237.3:c.602A>T | Homozygous | Autosomal, Recessive | Abifadel et al. 2004 | Proband from family ... |
| 238600.3.1 | Morocco | Male | No | Yes | Hepatosplenomegaly; Eruptive xanthomas... Hepatosplenomegaly; Eruptive xanthomas; Lipemia retinalis; Hypertriglyceridemia; Recurrent pancreatitis; Abdominal pain; Decreased circulating lipoprotein lipase concentration; | NM_000237.3:c.858T>A | Homozygous | Autosomal, Recessive | Foubert et al. 1997 | Proband 1 from Famil... |
| 238600.4.1 | Morocco | Female | No | Yes | Acute pancreatitis Acute pancreatitis | NM_000237.3:c.858T>A | Homozygous | Autosomal, Recessive | Foubert et al. 1997 | Proband 2 from Famil... |
Cagatay et al. (2007) conducted a meta-analysis to ascertain the involvement of LPL gene PvuII polymorphism in coronary artery disease (CAD). No significant variation was found in the PvuII genotypes among the control and CAD patients.
Al-Jafari et al. (2012) conducted a study to understand the association of LPL variants - HindIII, LPL-PvuII and LPL-Ser447Ter with coronary artery disease (CAD). The study group consisted of 120 CAD patients and 65 controls. None of the studied LPL variants showed any significant association with coronary artery disease.