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 ⁷⁵ ²⁹ ⁶ ⁴⁰

Hyperlipoproteinemia, Type 1d ⁵⁷

Hyperlipoproteinemia 1d ⁷⁵

Hlpp1d ⁷⁵

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal recessive

Miscellaneous:
hyperlipidemia may be partially responsive to fat-restricted diet

HPO:

³²

hyperlipoproteinemia, type id:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Endocrine diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 615947

MedGen ⁴² C4014767 CN207817

MeSH ⁴⁴ D008072

SNOMED-CT via HPO ⁶⁹ 258211005 95692001 36440009 more

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Summaries for Hyperlipoproteinemia, Type Id

UniProtKB/Swiss-Prot : ⁷⁵ Hyperlipoproteinemia 1D: An autosomal recessive disorder characterized by hyperlipoproteinemia, decreased plasma LPL levels in some patients, high plasma triglyceride levels, and refractory fasting chylomicronemia.

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 lipemia retinalis and failure to thrive

Description from OMIM: 615947

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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

Symptoms via clinical synopsis from OMIM:

⁵⁷

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

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 Other:
failure to thrive

Abdomen Liver:
hepatomegaly (reported in pediatric cases)

AbdomenSpleen:
splenomegaly (reported in pediatric cases)

Skin Nails Hair Skin:
facial xanthomatous eruptions (rare)

Clinical features from OMIM:

615947

Human phenotypes related to Hyperlipoproteinemia, Type Id:

³² (show all 6)

#	Description	HPO Frequency	HPO Source Accession
1	lipemia retinalis ³²	occasional (7.5%)	HP:0000660
2	failure to thrive ³²		HP:0001508
3	splenomegaly ³²		HP:0001744
4	hepatomegaly ³²		HP:0002240
5	colitis ³²	occasional (7.5%)	HP:0002583
6	hyperlipoproteinemia ³²		HP:0010980

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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 Id ²⁹	GPIHBP1

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Anatomical Context for Hyperlipoproteinemia, Type Id

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Publications for Hyperlipoproteinemia, Type Id

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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	PubmedIds
1	GPIHBP1	Glycosylphosphatidylinositol Anchored High Density Lipoprotein Binding Protein 1	Protein Coding	1318.77	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Variants (show sections)	19304573 22239554 20026666 (more) 21816778 20124439 24847059 24614124

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Variations for Hyperlipoproteinemia, Type Id

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

⁷⁵

#	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

ClinVar genetic disease variations for Hyperlipoproteinemia, Type Id:

⁶

(show all 19)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	GPIHBP1	NM_178172.5(GPIHBP1): c.344A> C (p.Gln115Pro)	single nucleotide variant	Pathogenic	rs587777637	GRCh38	Chromosome 8, 143215307: 143215307
2	GPIHBP1	NM_178172.5(GPIHBP1): c.344A> C (p.Gln115Pro)	single nucleotide variant	Pathogenic	rs587777637	GRCh37	Chromosome 8, 144297182: 144297182
3	GPIHBP1	NM_178172.5(GPIHBP1): c.194G> C (p.Cys65Ser)	single nucleotide variant	Pathogenic	rs587777638	GRCh37	Chromosome 8, 144296900: 144296900
4	GPIHBP1	NM_178172.5(GPIHBP1): c.194G> C (p.Cys65Ser)	single nucleotide variant	Pathogenic	rs587777638	GRCh38	Chromosome 8, 143215025: 143215025
5	GPIHBP1	NM_178172.5(GPIHBP1): c.202T> G (p.Cys68Gly)	single nucleotide variant	Pathogenic	rs587777639	GRCh37	Chromosome 8, 144296908: 144296908
6	GPIHBP1	NM_178172.5(GPIHBP1): c.202T> G (p.Cys68Gly)	single nucleotide variant	Pathogenic	rs587777639	GRCh38	Chromosome 8, 143215033: 143215033
7	GPIHBP1	NM_178172.5(GPIHBP1): c.523G> C (p.Gly175Arg)	single nucleotide variant	Pathogenic	rs145844329	GRCh37	Chromosome 8, 144297361: 144297361
8	GPIHBP1	NM_178172.5(GPIHBP1): c.523G> C (p.Gly175Arg)	single nucleotide variant	Pathogenic	rs145844329	GRCh38	Chromosome 8, 143215486: 143215486
9	GPIHBP1	NM_178172.5(GPIHBP1): c.266G> T (p.Cys89Phe)	single nucleotide variant	Pathogenic	rs587777640	GRCh37	Chromosome 8, 144296972: 144296972
10	GPIHBP1	NM_178172.5(GPIHBP1): c.266G> T (p.Cys89Phe)	single nucleotide variant	Pathogenic	rs587777640	GRCh38	Chromosome 8, 143215097: 143215097
11	GPIHBP1	NM_178172.5(GPIHBP1): c.331A> C (p.Thr111Pro)	single nucleotide variant	Pathogenic	rs587777641	GRCh37	Chromosome 8, 144297169: 144297169
12	GPIHBP1	NM_178172.5(GPIHBP1): c.331A> C (p.Thr111Pro)	single nucleotide variant	Pathogenic	rs587777641	GRCh38	Chromosome 8, 143215294: 143215294
13	GPIHBP1	NM_178172.5(GPIHBP1): c.417_433del17 (p.Pro140Serfs)	deletion	Pathogenic	rs587777642	GRCh37	Chromosome 8, 144297255: 144297271
14	GPIHBP1	NM_178172.5(GPIHBP1): c.417_433del17 (p.Pro140Serfs)	deletion	Pathogenic	rs587777642	GRCh38	Chromosome 8, 143215380: 143215396
15	GPIHBP1	NM_178172.5(GPIHBP1): c.194G> A (p.Cys65Tyr)	single nucleotide variant	Pathogenic	rs587777638	GRCh37	Chromosome 8, 144296900: 144296900
16	GPIHBP1	NM_178172.5(GPIHBP1): c.194G> A (p.Cys65Tyr)	single nucleotide variant	Pathogenic	rs587777638	GRCh38	Chromosome 8, 143215025: 143215025
17	GPIHBP1	NM_178172.5(GPIHBP1): c.320C> G (p.Ser107Cys)	single nucleotide variant	Pathogenic	rs587777643	GRCh37	Chromosome 8, 144297158: 144297158
18	GPIHBP1	NM_178172.5(GPIHBP1): c.320C> G (p.Ser107Cys)	single nucleotide variant	Pathogenic	rs587777643	GRCh38	Chromosome 8, 143215283: 143215283
19	GPIHBP1	GPIHBP1, DEL	deletion	Pathogenic

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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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