HLPP1D
MCID: HYP819
MIFTS: 26
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Hyperlipoproteinemia, Type Id (HLPP1D)
Categories:
Blood diseases, Cardiovascular diseases, Endocrine diseases, Genetic diseases, Liver diseases, Metabolic diseases, Rare diseases
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MalaCards integrated aliases for Hyperlipoproteinemia, Type Id:
Characteristics:Inheritance:
Hyperlipoproteinemia, Type Id:
Autosomal recessive 57
Familial Gpihbp1 Deficiency:
Autosomal recessive 58
Prevelance:
Familial Gpihbp1 Deficiency:
<1/1000000 (Worldwide) 58
Age Of Onset:
Familial Gpihbp1 Deficiency:
Adult 58
OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
hyperlipidemia may be partially responsive to fat-restricted diet Classifications:
MalaCards categories:
Global: Genetic diseases Metabolic diseases Rare diseases Anatomical: Endocrine diseases Cardiovascular diseases Liver diseases Blood diseases
Orphanet: 58
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OMIM®: 57 Hyperlipoproteinemia type ID is a rare autosomal recessive disorder characterized by impaired clearance of triglyceride (TG)-rich lipoproteins in plasma, leading to severe hypertriglyceridemia (chylomicronemia). Clinical features include eruptive xanthomas, lipemia retinalis, hepatosplenomegaly, episodes of abdominal pain, and pancreatitis. Onset usually occurs in adulthood (summary by Brahm and Hegele, 2013). For a discussion of genetic heterogeneity of familial chylomicronemia, see 238600. (615947) (Updated 08-Dec-2022) MalaCards based summary: Hyperlipoproteinemia, Type Id, is also known as hyperlipoproteinemia, type 1d. An important gene associated with Hyperlipoproteinemia, Type Id is GPIHBP1 (Glycosylphosphatidylinositol Anchored High Density Lipoprotein Binding Protein 1). Related phenotypes are colitis and failure to thrive Disease Ontology: 11 A familial chylomicronemia syndrome characterized by refactory fasting hyperchylomicronemia, and elevated plasma triglyceride levels that has material basis in homozygous or compound heterozygous mutation in GPIHBP1 on chromosome 8q24.3. UniProtKB/Swiss-Prot: 73 An autosomal recessive disorder characterized by hyperlipoproteinemia, decreased plasma LPL levels in some patients, high plasma triglyceride levels, and refractory fasting chylomicronemia. |
Diseases in the Hyperlipoproteinemia, Type Iii family:
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Human phenotypes related to Hyperlipoproteinemia, Type Id:30 (show all 11)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:615947 (Updated 08-Dec-2022) |
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Articles related to Hyperlipoproteinemia, Type Id:(show all 12)
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ClinVar genetic disease variations for Hyperlipoproteinemia, Type Id:5 (show all 18)
UniProtKB/Swiss-Prot genetic disease variations for Hyperlipoproteinemia, Type Id:73
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