HLPP1D
MCID: HYP819
MIFTS: 23

Hyperlipoproteinemia, Type Id (HLPP1D)

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

Aliases & Classifications for Hyperlipoproteinemia, Type Id

MalaCards integrated aliases for Hyperlipoproteinemia, Type Id:

Name: Hyperlipoproteinemia, Type Id 58 76 30 6 41
Familial Glycosylphosphatidylinositol-Anchored High Density Lipoprotein-Binding Protein 1 Deficiency 60
Hyperlipoproteinemia, Type 1d 58
Familial Gpihbp1 Deficiency 60
Hyperlipoproteinemia 1d 76
Hlpp1d 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
hyperlipoproteinemia, type id:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Hyperlipoproteinemia, Type Id

UniProtKB/Swiss-Prot : 76 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 familial glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 deficiency. An important gene associated with Hyperlipoproteinemia, Type Id is GPIHBP1 (Glycosylphosphatidylinositol Anchored High Density Lipoprotein Binding Protein 1). Affiliated tissues include liver, and related phenotypes are colitis and lipemia retinalis

Description from OMIM: 615947

Related Diseases for Hyperlipoproteinemia, Type Id

Symptoms & Phenotypes for Hyperlipoproteinemia, Type Id

Human phenotypes related to Hyperlipoproteinemia, Type Id:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 colitis 33 occasional (7.5%) HP:0002583
2 lipemia retinalis 33 occasional (7.5%) HP:0000660
3 failure to thrive 33 HP:0001508
4 splenomegaly 33 HP:0001744
5 hepatomegaly 33 HP:0002240
6 hyperlipoproteinemia 33 HP:0010980

Symptoms via clinical synopsis from OMIM:

58
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

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 30 GPIHBP1

Anatomical Context for Hyperlipoproteinemia, Type Id

MalaCards organs/tissues related to Hyperlipoproteinemia, Type Id:

42
Liver

Publications for Hyperlipoproteinemia, Type Id

Articles related to Hyperlipoproteinemia, Type Id:

# Title Authors Year
1
Whole-exome sequencing reveals GPIHBP1 mutations in infantile colitis with severe hypertriglyceridemia. ( 24614124 )
2014
2
Multimerization of glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 (GPIHBP1) and familial chylomicronemia from a serine-to-cysteine substitution in GPIHBP1 Ly6 domain. ( 24847059 )
2014
3
Mutations in LPL, APOC2, APOA5, GPIHBP1 and LMF1 in patients with severe hypertriglyceridaemia. ( 22239554 )
2012
4
GPIHBP1 C89F neomutation and hydrophobic C-terminal domain G175R mutation in two pedigrees with severe hyperchylomicronemia. ( 21816778 )
2011
5
Mutation of conserved cysteines in the Ly6 domain of GPIHBP1 in familial chylomicronemia. ( 20026666 )
2010
6
Chylomicronemia with low postheparin lipoprotein lipase levels in the setting of GPIHBP1 defects. ( 20124439 )
2010
7
Chylomicronemia with a mutant GPIHBP1 (Q115P) that cannot bind lipoprotein lipase. ( 19304573 )
2009

Variations for Hyperlipoproteinemia, Type Id

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

76
# 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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