MCID: HYP819
MIFTS: 19

Hyperlipoproteinemia, Type Id

Categories: Genetic diseases, Rare diseases, Metabolic diseases, Endocrine diseases

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:



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

Related Diseases for Hyperlipoproteinemia, Type Id

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

Drugs & Therapeutics for Hyperlipoproteinemia, Type Id

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

Genetic Tests for Hyperlipoproteinemia, Type Id

Genetic tests related to Hyperlipoproteinemia, Type Id:

# Genetic test Affiliating Genes
1 Hyperlipoproteinemia, Type Id 29 GPIHBP1

Anatomical Context for Hyperlipoproteinemia, Type Id

Publications for Hyperlipoproteinemia, Type Id

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

Expression for Hyperlipoproteinemia, Type Id

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

Pathways for Hyperlipoproteinemia, Type Id

GO Terms for Hyperlipoproteinemia, Type Id

Sources for Hyperlipoproteinemia, Type Id

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74 UMLS via Orphanet
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