GBD4
MCID: GLL027
MIFTS: 26

Gallbladder Disease 4 (GBD4)

Categories: Gastrointestinal diseases, Genetic diseases, Liver diseases, Metabolic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Gallbladder Disease 4

MalaCards integrated aliases for Gallbladder Disease 4:

Name: Gallbladder Disease 4 58 76 30 13 6 74
Gbd4 58 76
Gallbladder Disease, Type 4 41

Characteristics:

HPO:

33
gallbladder disease 4:
Inheritance polygenic inheritance


Classifications:



External Ids:

OMIM 58 611465
MeSH 45 D005705
MedGen 43 C1969115
SNOMED-CT via HPO 70 266474003
UMLS 74 C1969115

Summaries for Gallbladder Disease 4

UniProtKB/Swiss-Prot : 76 Gallbladder disease 4: One of the major digestive diseases. Gallstones composed of cholesterol (cholelithiasis) are the common manifestations in western countries. Most people with gallstones, however, remain asymptomatic through their lifetimes.

MalaCards based summary : Gallbladder Disease 4, also known as gbd4, is related to gallbladder disease and homozygous familial hypercholesterolemia. An important gene associated with Gallbladder Disease 4 is ABCG8 (ATP Binding Cassette Subfamily G Member 8), and among its related pathways/superpathways are Lipoprotein metabolism and Angiopoietin Like Protein 8 Regulatory Pathway. Affiliated tissues include liver, and related phenotype is cholelithiasis.

Description from OMIM: 611465

Related Diseases for Gallbladder Disease 4

Diseases in the Gallbladder Disease family:

Gallbladder Disease 1 Gallbladder Disease 2
Gallbladder Disease 3 Gallbladder Disease 4

Diseases related to Gallbladder Disease 4 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 gallbladder disease 9.8 ABCG5 ABCG8
2 homozygous familial hypercholesterolemia 9.8 ABCG5 ABCG8
3 aortic atherosclerosis 9.8 ABCG5 ABCG8
4 cholestasis, progressive familial intrahepatic, 1 9.7 ABCG5 ABCG8
5 cholestasis, benign recurrent intrahepatic, 1 9.7 ABCG5 ABCG8
6 sitosterolemia 9.7 ABCG5 ABCG8
7 cholelithiasis 9.6 ABCG5 ABCG8
8 hypercholesterolemia, familial 9.5 ABCG5 ABCG8

Graphical network of the top 20 diseases related to Gallbladder Disease 4:



Diseases related to Gallbladder Disease 4

Symptoms & Phenotypes for Gallbladder Disease 4

Human phenotypes related to Gallbladder Disease 4:

33
# Description HPO Frequency HPO Source Accession
1 cholelithiasis 33 HP:0001081

Clinical features from OMIM:

611465

Drugs & Therapeutics for Gallbladder Disease 4

Search Clinical Trials , NIH Clinical Center for Gallbladder Disease 4

Genetic Tests for Gallbladder Disease 4

Genetic tests related to Gallbladder Disease 4:

# Genetic test Affiliating Genes
1 Gallbladder Disease 4 30 ABCG8

Anatomical Context for Gallbladder Disease 4

MalaCards organs/tissues related to Gallbladder Disease 4:

42
Liver

Publications for Gallbladder Disease 4

Articles related to Gallbladder Disease 4:

# Title Authors Year
1
A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease. ( 17632509 )
2007

Variations for Gallbladder Disease 4

ClinVar genetic disease variations for Gallbladder Disease 4:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ABCG5; ABCG8 NM_022437.2(ABCG8): c.55G> C (p.Asp19His) single nucleotide variant Conflicting interpretations of pathogenicity rs11887534 GRCh37 Chromosome 2, 44066247: 44066247
2 ABCG5; ABCG8 NM_022437.2(ABCG8): c.55G> C (p.Asp19His) single nucleotide variant Conflicting interpretations of pathogenicity rs11887534 GRCh38 Chromosome 2, 43839108: 43839108
3 ABCG8 NM_022437.2(ABCG8): c.1201A> T (p.Thr401Ser) single nucleotide variant Uncertain significance rs144200355 GRCh37 Chromosome 2, 44099435: 44099435
4 ABCG8 NM_022437.2(ABCG8): c.1201A> T (p.Thr401Ser) single nucleotide variant Uncertain significance rs144200355 GRCh38 Chromosome 2, 43872296: 43872296
5 ABCG8 NM_022437.2(ABCG8): c.1160C> T (p.Pro387Leu) single nucleotide variant Uncertain significance rs150654176 GRCh37 Chromosome 2, 44099394: 44099394
6 ABCG8 NM_022437.2(ABCG8): c.1160C> T (p.Pro387Leu) single nucleotide variant Uncertain significance rs150654176 GRCh38 Chromosome 2, 43872255: 43872255

Expression for Gallbladder Disease 4

Search GEO for disease gene expression data for Gallbladder Disease 4.

Pathways for Gallbladder Disease 4

GO Terms for Gallbladder Disease 4

Cellular components related to Gallbladder Disease 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 apical plasma membrane GO:0016324 9.16 ABCG5 ABCG8
2 receptor complex GO:0043235 8.96 ABCG5 ABCG8
3 ATP-binding cassette (ABC) transporter complex GO:0043190 8.62 ABCG5 ABCG8

Biological processes related to Gallbladder Disease 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.48 ABCG5 ABCG8
2 response to drug GO:0042493 9.46 ABCG5 ABCG8
3 lipid transport GO:0006869 9.43 ABCG5 ABCG8
4 cholesterol homeostasis GO:0042632 9.4 ABCG5 ABCG8
5 response to nutrient GO:0007584 9.37 ABCG5 ABCG8
6 excretion GO:0007588 9.32 ABCG5 ABCG8
7 cholesterol efflux GO:0033344 9.26 ABCG5 ABCG8
8 intestinal cholesterol absorption GO:0030299 9.16 ABCG5 ABCG8
9 negative regulation of intestinal cholesterol absorption GO:0045796 8.96 ABCG5 ABCG8
10 negative regulation of intestinal phytosterol absorption GO:0010949 8.62 ABCG5 ABCG8

Molecular functions related to Gallbladder Disease 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein heterodimerization activity GO:0046982 9.26 ABCG5 ABCG8
2 ATPase activity GO:0016887 9.16 ABCG5 ABCG8
3 ATPase activity, coupled to transmembrane movement of substances GO:0042626 8.96 ABCG5 ABCG8
4 cholesterol transporter activity GO:0017127 8.62 ABCG5 ABCG8

Sources for Gallbladder Disease 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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