HLPP1D
MCID: HYP819
MIFTS: 26

Hyperlipoproteinemia, Type Id (HLPP1D)

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

Orphanet: 58  
Inborn errors of metabolism
Rare endocrine diseases


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.

Related Diseases for Hyperlipoproteinemia, Type Id

Symptoms & Phenotypes for Hyperlipoproteinemia, Type Id

Human phenotypes related to Hyperlipoproteinemia, Type Id:

30 (show all 11)
# Description HPO Frequency Orphanet 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)

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 1d 28 GPIHBP1

Anatomical Context for Hyperlipoproteinemia, Type Id

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
24614124 2014
2
Mutations in LPL, APOC2, APOA5, GPIHBP1 and LMF1 in patients with severe hypertriglyceridaemia. 57 5
22239554 2012
3
GPIHBP1 C89F neomutation and hydrophobic C-terminal domain G175R mutation in two pedigrees with severe hyperchylomicronemia. 57 5
21816778 2011
4
Mutation of conserved cysteines in the Ly6 domain of GPIHBP1 in familial chylomicronemia. 57 5
20026666 2010
5
Chylomicronemia with low postheparin lipoprotein lipase levels in the setting of GPIHBP1 defects. 57 5
20124439 2010
6
Chylomicronemia with a mutant GPIHBP1 (Q115P) that cannot bind lipoprotein lipase. 57 5
19304573 2009
7
Parental exome analysis identifies shared carrier status for a second recessive disorder in couples with an affected child. 5
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
24847059 2014
9
Hypertriglyceridemia. 57
23525082 2013
10
Normal binding of lipoprotein lipase, chylomicrons, and apo-AV to GPIHBP1 containing a G56R amino acid substitution. 57
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
17883852 2007
12
A homozygous variant in the GPIHBP1 gene in a child with severe hypertriglyceridemia and a systematic literature review. 62
36051701 2022

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

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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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