HLPP1D
MCID: HYP819
MIFTS: 25

Hyperlipoproteinemia, Type Id (HLPP1D)

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

Aliases & Classifications for Hyperlipoproteinemia, Type Id

MalaCards integrated aliases for Hyperlipoproteinemia, Type Id:

Name: Hyperlipoproteinemia, Type Id 57 72 29 6 39
Familial Glycosylphosphatidylinositol-Anchored High Density Lipoprotein-Binding Protein 1 Deficiency 12 58
Familial Gpihbp1 Deficiency 12 58
Hyperlipoproteinemia, Type 1d 57
Hyperlipoproteinemia Type 1d 12
Hyperlipoproteinemia Type Id 12
Hyperlipoproteinemia 1d 72
Hlpp1d 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

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


HPO:

31
hyperlipoproteinemia, type id:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Inborn errors of metabolism
Rare endocrine diseases


External Ids:

Disease Ontology 12 DOID:0111420
OMIM® 57 615947
MeSH 44 D008072
Orphanet 58 ORPHA535458

Summaries for Hyperlipoproteinemia, Type Id

Disease Ontology : 12 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.

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

UniProtKB/Swiss-Prot : 72 Hyperlipoproteinemia 1D: An autosomal recessive disorder characterized by hyperlipoproteinemia, decreased plasma LPL levels in some patients, high plasma triglyceride levels, and refractory fasting chylomicronemia.

More information from OMIM: 615947

Related Diseases for Hyperlipoproteinemia, Type Id

Symptoms & Phenotypes for Hyperlipoproteinemia, Type Id

Human phenotypes related to Hyperlipoproteinemia, Type Id:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 colitis 31 occasional (7.5%) HP:0002583
2 lipemia retinalis 31 occasional (7.5%) HP:0000660
3 failure to thrive 31 HP:0001508
4 splenomegaly 31 HP:0001744
5 hepatomegaly 31 HP:0002240
6 hyperlipoproteinemia 31 HP:0010980

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 20-May-2021)

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

MalaCards organs/tissues related to Hyperlipoproteinemia, Type Id:

40
Liver

Publications for Hyperlipoproteinemia, Type Id

Articles related to Hyperlipoproteinemia, Type Id:

# Title Authors PMID Year
1
Multimerization of glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 (GPIHBP1) and familial chylomicronemia from a serine-to-cysteine substitution in GPIHBP1 Ly6 domain. 6 57
24847059 2014
2
Whole-exome sequencing reveals GPIHBP1 mutations in infantile colitis with severe hypertriglyceridemia. 57 6
24614124 2014
3
Mutations in LPL, APOC2, APOA5, GPIHBP1 and LMF1 in patients with severe hypertriglyceridaemia. 57 6
22239554 2012
4
GPIHBP1 C89F neomutation and hydrophobic C-terminal domain G175R mutation in two pedigrees with severe hyperchylomicronemia. 6 57
21816778 2011
5
Mutation of conserved cysteines in the Ly6 domain of GPIHBP1 in familial chylomicronemia. 57 6
20026666 2010
6
Chylomicronemia with low postheparin lipoprotein lipase levels in the setting of GPIHBP1 defects. 6 57
20124439 2010
7
Chylomicronemia with a mutant GPIHBP1 (Q115P) that cannot bind lipoprotein lipase. 57 6
19304573 2009
8
Parental exome analysis identifies shared carrier status for a second recessive disorder in couples with an affected child. 6
33223529 2021
9
Normal binding of lipoprotein lipase, chylomicrons, and apo-AV to GPIHBP1 containing a G56R amino acid substitution. 57
17997385 2007
10
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

Variations for Hyperlipoproteinemia, Type Id

ClinVar genetic disease variations for Hyperlipoproteinemia, Type Id:

6 (show all 13)
# 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) Deletion 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 Deletion Pathogenic 144022 GRCh37:
GRCh38:
6 GPIHBP1 NM_178172.6(GPIHBP1):c.344A>C (p.Gln115Pro) SNV Pathogenic 144013 rs587777637 GRCh37: 8:144297182-144297182
GRCh38: 8:143215307-143215307
7 GPIHBP1 NM_178172.6(GPIHBP1):c.202T>G (p.Cys68Gly) SNV Pathogenic 144015 rs587777639 GRCh37: 8:144296908-144296908
GRCh38: 8:143215033-143215033
8 GPIHBP1 NM_178172.6(GPIHBP1):c.266G>T (p.Cys89Phe) SNV Pathogenic 144017 rs587777640 GRCh37: 8:144296972-144296972
GRCh38: 8:143215097-143215097
9 GPIHBP1 NM_178172.6(GPIHBP1):c.320C>G (p.Ser107Cys) SNV Pathogenic 144021 rs587777643 GRCh37: 8:144297158-144297158
GRCh38: 8:143215283-143215283
10 GPIHBP1 NM_178172.6(GPIHBP1):c.230G>A (p.Cys77Tyr) SNV Likely pathogenic 917845 GRCh37: 8:144296936-144296936
GRCh38: 8:143215061-143215061
11 GPIHBP1 NM_178172.6(GPIHBP1):c.422G>A (p.Trp141Ter) SNV Likely pathogenic 975917 GRCh37: 8:144297260-144297260
GRCh38: 8:143215385-143215385
12 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
13 GPIHBP1 NM_178172.6(GPIHBP1):c.323C>G (p.Thr108Arg) SNV Uncertain significance 1031306 GRCh37: 8:144297161-144297161
GRCh38: 8:143215286-143215286

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

72
# 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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