Hyperlipoproteinemia, Type Id disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Hyperlipoproteinemia, Type Id

MalaCards integrated aliases for Hyperlipoproteinemia, Type Id:

Name: Hyperlipoproteinemia, Type Id ⁵⁷ ⁷³ ³⁸

Hyperlipoproteinemia, Type 1d ⁵⁷ ²⁸ ⁵

Familial Glycosylphosphatidylinositol-Anchored High Density Lipoprotein-Binding Protein 1 Deficiency ¹¹ ⁵⁸

Familial Gpihbp1 Deficiency ¹¹ ⁵⁸

Hyperlipoproteinemia Type 1d ¹¹

Hyperlipoproteinemia Type Id ¹¹

Hyperlipoproteinemia 1d ⁷³

Hlpp1d ⁷³

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

See all MalaCards categories (disease lists)

Orphanet: ⁵⁸

Inborn errors of metabolism

Rare endocrine diseases

External Ids:

Disease Ontology ¹¹ DOID:0111420

OMIM® ⁵⁷ 615947

MeSH ⁴³ D008072

Orphanet ⁵⁸ ORPHA535458

MedGen ⁴⁰ C4014767 CN207817

SNOMED-CT via HPO ⁶⁹ 16294009 190785000 190786004 more

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Summaries for Hyperlipoproteinemia, Type Id

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.

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Related Diseases for Hyperlipoproteinemia, Type Id

Diseases in the Hyperlipoproteinemia, Type Iii family:

Hyperlipoproteinemia, Type Iv	Hyperlipoproteinemia, Type V
Hyperlipoproteinemia, Type I	Hyperlipoproteinemia, Type Id

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Symptoms & Phenotypes for Hyperlipoproteinemia, Type Id

Human phenotypes related to Hyperlipoproteinemia, Type Id:

³⁰ (show all 11)

#	Description	HPO Frequency	HPO Source Accession
1	colitis ³⁰	Occasional (7.5%)	HP:0002583
2	failure to thrive ³⁰	Very rare (1%)	HP:0001508
3	splenomegaly ³⁰	Very rare (1%)	HP:0001744
4	hepatomegaly ³⁰	Very rare (1%)	HP:0002240
5	hypertriglyceridemia ³⁰	Very rare (1%)	HP:0002155
6	decreased hdl cholesterol concentration ³⁰	Very rare (1%)	HP:0003233
7	decreased ldl cholesterol concentration ³⁰	Very rare (1%)	HP:0003563
8	premature coronary artery atherosclerosis ³⁰	Very rare (1%)	HP:0005181
9	recurrent pancreatitis ³⁰	Very rare (1%)	HP:0100027
10	lipemia retinalis ³⁰	Very rare (1%)	HP:0000660
11	increased circulating chylomicron concentration ³⁰	Very rare (1%)	HP:0012238

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Growth Other:
failure to thrive

Head And Neck Eyes:
lipemia retinalis (in some patients)

Abdomen Pancreas:
pancreatitis, relapsing (in most patients)

Abdomen Gastrointestinal:
colitis (rare)

Laboratory Abnormalities:
type i hyperlipoproteinemia
high plasma triglyceride levels
chylomicronemia, refractory fasting
decreased plasma lpl levels (in some patients)
high-normal plasma triglyceride concentration (in heterozygotes)

Growth Weight:
low body weight (< 10th centile)

Abdomen Liver:
hepatomegaly (reported in pediatric cases)

Abdomen Spleen:
splenomegaly (reported in pediatric cases)

Skin Nails Hair Skin:
facial xanthomatous eruptions (rare)

Clinical features from OMIM®:

615947 (Updated 08-Dec-2022)

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Drugs & Therapeutics for Hyperlipoproteinemia, Type Id

Search Clinical Trials, NIH Clinical Center for Hyperlipoproteinemia, Type Id

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Genetic Tests for Hyperlipoproteinemia, Type Id

Genetic tests related to Hyperlipoproteinemia, Type Id:

#	Genetic test	Affiliating Genes
1	Hyperlipoproteinemia, Type 1d ²⁸	GPIHBP1

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Anatomical Context for Hyperlipoproteinemia, Type Id

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Publications for Hyperlipoproteinemia, Type Id

Articles related to Hyperlipoproteinemia, Type Id:

(show all 12)

#	Title	Authors	PMID	Year
1	Whole-exome sequencing reveals GPIHBP1 mutations in infantile colitis with severe hypertriglyceridemia. ⁵⁷ ⁵	Gonzaga-Jauregui C...Hanchard NA	24614124	2014
2	Mutations in LPL, APOC2, APOA5, GPIHBP1 and LMF1 in patients with severe hypertriglyceridaemia. ⁵⁷ ⁵	Surendran RP...Dallinga-Thie GM	22239554	2012
3	GPIHBP1 C89F neomutation and hydrophobic C-terminal domain G175R mutation in two pedigrees with severe hyperchylomicronemia. ⁵⁷ ⁵	Charriere S...Marcais C	21816778	2011
4	Mutation of conserved cysteines in the Ly6 domain of GPIHBP1 in familial chylomicronemia. ⁵⁷ ⁵	Olivecrona G...Hernell O	20026666	2010
5	Chylomicronemia with low postheparin lipoprotein lipase levels in the setting of GPIHBP1 defects. ⁵⁷ ⁵	Franssen R...Beigneux AP	20124439	2010
6	Chylomicronemia with a mutant GPIHBP1 (Q115P) that cannot bind lipoprotein lipase. ⁵⁷ ⁵	Beigneux AP...Young SG	19304573	2009
7	Parental exome analysis identifies shared carrier status for a second recessive disorder in couples with an affected child. ⁵	Mor-Shaked H...Harel T	33223529	2021
8	Multimerization of glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 (GPIHBP1) and familial chylomicronemia from a serine-to-cysteine substitution in GPIHBP1 Ly6 domain. ⁵⁷	Plengpanich W...Beigneux AP	24847059	2014
9	Hypertriglyceridemia. ⁵⁷	Brahm A...Hegele RA	23525082	2013
10	Normal binding of lipoprotein lipase, chylomicrons, and apo-AV to GPIHBP1 containing a G56R amino acid substitution. ⁵⁷	Gin P...Young SG	17997385	2007
11	Homozygous missense mutation (G56R) in glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 (GPI-HBP1) in two siblings with fasting chylomicronemia (MIM 144650). ⁵⁷	Wang J...Hegele RA	17883852	2007
12	A homozygous variant in the GPIHBP1 gene in a child with severe hypertriglyceridemia and a systematic literature review. ⁶²	Sustar U...Sadiq F	36051701	2022

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Genes for Hyperlipoproteinemia, Type Id

Genes related to Hyperlipoproteinemia, Type Id (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	GPIHBP1	Glycosylphosphatidylinositol Anchored High Density Lipoprotein Binding Protein 1	Protein Coding	1675	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵	19304573 20026666 20124439 (more) 21816778 22239554 24614124 25732519 29980054

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Variations for Hyperlipoproteinemia, Type Id

ClinVar genetic disease variations for Hyperlipoproteinemia, Type Id:

⁵ (show all 18)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	GPIHBP1	NM_178172.6(GPIHBP1):c.194G>C (p.Cys65Ser)	SNV	Pathogenic	144014	rs587777638	GRCh37: 8:144296900-144296900 GRCh38: 8:143215025-143215025
2	GPIHBP1	NM_178172.6(GPIHBP1):c.331A>C (p.Thr111Pro)	SNV	Pathogenic	144018	rs587777641	GRCh37: 8:144297169-144297169 GRCh38: 8:143215294-143215294
3	GPIHBP1	NM_178172.6(GPIHBP1):c.417_433del (p.Pro140fs)	DEL	Pathogenic	144019	rs587777642	GRCh37: 8:144297251-144297267 GRCh38: 8:143215376-143215392
4	GPIHBP1	NM_178172.6(GPIHBP1):c.194G>A (p.Cys65Tyr)	SNV	Pathogenic	144020	rs587777638	GRCh37: 8:144296900-144296900 GRCh38: 8:143215025-143215025
5	GPIHBP1	GPIHBP1, DEL	DEL	Pathogenic	144022		GRCh37: GRCh38:
6	GPIHBP1	NM_178172.6(GPIHBP1):c.182-1G>T	SNV	Pathogenic	1685860		GRCh37: 8:144296887-144296887 GRCh38: 8:143215012-143215012
7	GPIHBP1	NM_178172.6(GPIHBP1):c.344A>C (p.Gln115Pro)	SNV	Pathogenic	144013	rs587777637	GRCh37: 8:144297182-144297182 GRCh38: 8:143215307-143215307
8	GPIHBP1	NM_178172.6(GPIHBP1):c.202T>G (p.Cys68Gly)	SNV	Pathogenic	144015	rs587777639	GRCh37: 8:144296908-144296908 GRCh38: 8:143215033-143215033
9	GPIHBP1	NM_178172.6(GPIHBP1):c.266G>T (p.Cys89Phe)	SNV	Pathogenic	144017	rs587777640	GRCh37: 8:144296972-144296972 GRCh38: 8:143215097-143215097
10	GPIHBP1	NM_178172.6(GPIHBP1):c.320C>G (p.Ser107Cys)	SNV	Pathogenic	144021	rs587777643	GRCh37: 8:144297158-144297158 GRCh38: 8:143215283-143215283
11	GPIHBP1	NM_178172.6(GPIHBP1):c.422G>A (p.Trp141Ter)	SNV	Likely Pathogenic	975917	rs1284611659	GRCh37: 8:144297260-144297260 GRCh38: 8:143215385-143215385
12	GPIHBP1	NM_178172.6(GPIHBP1):c.433C>T (p.Arg145Ter)	SNV	Likely Pathogenic	1517312		GRCh37: 8:144297271-144297271 GRCh38: 8:143215396-143215396
13	GPIHBP1	NM_178172.6(GPIHBP1):c.230G>A (p.Cys77Tyr)	SNV	Likely Pathogenic	917845	rs780340378	GRCh37: 8:144296936-144296936 GRCh38: 8:143215061-143215061
14	GPIHBP1	NM_178172.6(GPIHBP1):c.523G>C (p.Gly175Arg)	SNV	Conflicting Interpretations Of Pathogenicity	144016	rs145844329	GRCh37: 8:144297361-144297361 GRCh38: 8:143215486-143215486
15	GPIHBP1	NM_178172.6(GPIHBP1):c.323C>G (p.Thr108Arg)	SNV	Uncertain Significance	1031306	rs752728823	GRCh37: 8:144297161-144297161 GRCh38: 8:143215286-143215286
16	GPIHBP1	NM_178172.6(GPIHBP1):c.272C>A (p.Thr91Asn)	SNV	Uncertain Significance	1705446		GRCh37: 8:144296978-144296978 GRCh38: 8:143215103-143215103
17	GPIHBP1	NM_178172.6(GPIHBP1):c.406T>G (p.Cys136Gly)	SNV	Uncertain Significance	1705537		GRCh37: 8:144297244-144297244 GRCh38: 8:143215369-143215369
18	GPIHBP1	NM_178172.6(GPIHBP1):c.193T>C (p.Cys65Arg)	SNV	Uncertain Significance	1687542		GRCh37: 8:144296899-144296899 GRCh38: 8:143215024-143215024

UniProtKB/Swiss-Prot genetic disease variations for Hyperlipoproteinemia, Type Id:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	GPIHBP1	p.Gln115Pro	VAR_058086	rs587777637
2	GPIHBP1	p.Cys65Ser	VAR_071881	rs587777638
3	GPIHBP1	p.Cys68Gly	VAR_071882	rs587777639
4	GPIHBP1	p.Cys89Phe	VAR_071883	rs587777640
5	GPIHBP1	p.Gly175Arg	VAR_071884	rs145844329
6	GPIHBP1	p.Cys65Tyr	VAR_077634	rs587777638
7	GPIHBP1	p.Cys68Tyr	VAR_077636
8	GPIHBP1	p.Cys83Arg	VAR_077637
9	GPIHBP1	p.Thr108Arg	VAR_077638
10	GPIHBP1	p.Ser144Phe	VAR_077639	rs78367243

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Expression for Hyperlipoproteinemia, Type Id

Search GEO for disease gene expression data for Hyperlipoproteinemia, Type Id.

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Pathways for Hyperlipoproteinemia, Type Id

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GO Terms for Hyperlipoproteinemia, Type Id

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Sources for Hyperlipoproteinemia, Type Id

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²⁶ GEO DataSets

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³¹ ICD10

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³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

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³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

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⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

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⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

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⁶⁸ SNOMED-CT

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⁷¹ UMLS

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⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

HLPP1D MCID: HYP819 MIFTS: 26	Hyperlipoproteinemia, Type Id (HLPP1D) Categories: Blood diseases, Cardiovascular diseases, Endocrine diseases, Genetic diseases, Liver diseases, Metabolic diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Publications Symptoms & Phenotypes Expand all tables

Hyperlipoproteinemia, Type Id (HLPP1D)

Aliases & Classifications for Hyperlipoproteinemia, Type Id

MalaCards integrated aliases for Hyperlipoproteinemia, Type Id:

Characteristics:

Inheritance:

Prevelance:

Age Of Onset:

OMIM®:

Classifications:

External Ids:

Summaries for Hyperlipoproteinemia, Type Id

Related Diseases for Hyperlipoproteinemia, Type Id

Diseases in the Hyperlipoproteinemia, Type Iii family:

Symptoms & Phenotypes for Hyperlipoproteinemia, Type Id

Human phenotypes related to Hyperlipoproteinemia, Type Id:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Hyperlipoproteinemia, Type Id

Genetic Tests for Hyperlipoproteinemia, Type Id

Genetic tests related to Hyperlipoproteinemia, Type Id:

Anatomical Context for Hyperlipoproteinemia, Type Id

Publications for Hyperlipoproteinemia, Type Id

Articles related to Hyperlipoproteinemia, Type Id:

Genes for Hyperlipoproteinemia, Type Id

Genes related to Hyperlipoproteinemia, Type Id (1 elite genes):

Variations for Hyperlipoproteinemia, Type Id

ClinVar genetic disease variations for Hyperlipoproteinemia, Type Id:

UniProtKB/Swiss-Prot genetic disease variations for Hyperlipoproteinemia, Type Id:

Expression for Hyperlipoproteinemia, Type Id

Pathways for Hyperlipoproteinemia, Type Id

GO Terms for Hyperlipoproteinemia, Type Id

Sources for Hyperlipoproteinemia, Type Id