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 57 75 29 13 6 73
Gbd4 57 75
Gallbladder Disease, Type 4 40

Characteristics:

HPO:

32
gallbladder disease 4:
Inheritance polygenic inheritance


Classifications:



External Ids:

OMIM 57 611465
MedGen 42 C1969115
MeSH 44 D005705
SNOMED-CT via HPO 69 266474003
UMLS 73 C1969115

Summaries for Gallbladder Disease 4

UniProtKB/Swiss-Prot : 75 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 9.9 ABCG5 ABCG8
2 homozygous familial hypercholesterolemia 9.9 ABCG5 ABCG8
3 aortic atherosclerosis 9.8 ABCG5 ABCG8
4 cholestasis, progressive familial intrahepatic, 1 9.8 ABCG5 ABCG8
5 cholestasis, benign recurrent intrahepatic, 1 9.8 ABCG5 ABCG8
6 sitosterolemia 9.8 ABCG5 ABCG8
7 cholelithiasis 9.8 ABCG5 ABCG8
8 hypercholesterolemia, familial 9.7 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

Clinical features from OMIM:

611465

Human phenotypes related to Gallbladder Disease 4:

32
# Description HPO Frequency HPO Source Accession
1 cholelithiasis 32 HP:0001081

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 29 ABCG8

Anatomical Context for Gallbladder Disease 4

MalaCards organs/tissues related to Gallbladder Disease 4:

41
Liver

Publications for Gallbladder Disease 4

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

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:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.49 ABCG5 ABCG8
2 response to drug GO:0042493 9.48 ABCG5 ABCG8
3 lipid transport GO:0006869 9.46 ABCG5 ABCG8
4 cholesterol homeostasis GO:0042632 9.43 ABCG5 ABCG8
5 response to nutrient GO:0007584 9.4 ABCG5 ABCG8
6 excretion GO:0007588 9.37 ABCG5 ABCG8
7 drug transmembrane transport GO:0006855 9.32 ABCG5 ABCG8
8 cholesterol efflux GO:0033344 9.26 ABCG5 ABCG8
9 intestinal cholesterol absorption GO:0030299 9.16 ABCG5 ABCG8
10 negative regulation of intestinal cholesterol absorption GO:0045796 8.96 ABCG5 ABCG8
11 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 9.32 ABCG5 ABCG8
2 ATPase activity GO:0016887 9.26 ABCG5 ABCG8
3 ATPase activity, coupled to transmembrane movement of substances GO:0042626 9.16 ABCG5 ABCG8
4 cholesterol transporter activity GO:0017127 8.96 ABCG5 ABCG8
5 drug transmembrane transporter activity GO:0015238 8.62 ABCG5 ABCG8

Sources for Gallbladder Disease 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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