SM2
MCID: HPT084
MIFTS: 12

Hepatic Fibrosis, Severe Due to Schistosoma Mansoni Infection (SM2)

Categories: Liver diseases, Rare diseases

Aliases & Classifications for Hepatic Fibrosis, Severe Due to Schistosoma Mansoni Infection

MalaCards integrated aliases for Hepatic Fibrosis, Severe Due to Schistosoma Mansoni Infection:

Name: Hepatic Fibrosis, Severe Due to Schistosoma Mansoni Infection 57
Hepatic Fibrosis Susceptibility Due to Schistosoma Mansoni Infection 57 13
Hepatic Fibrosis, Severe, Susceptibility to, Due to Schistosoma Mansoni Infection 57
Sm2 57

Classifications:



External Ids:

OMIM® 57 604201

Summaries for Hepatic Fibrosis, Severe Due to Schistosoma Mansoni Infection

OMIM® : 57 Hepatointestinal schistosomiasis is caused by 2 species of helminths: Schistosoma japonicum, which is prevalent in Asia, and S. mansoni, which is prevalent in Africa and South America. Both worms develop in the host mesenteric system and lay eggs that trigger inflammation in the hepatic periportal space in which they are trapped. Worms live for years, and chronic liver inflammation and significant tissue destruction are therefore common in infected individuals. Tissue repair begins with deposition of extracellular matrix proteins (ECMPs) in the damaged tissues, which are later replaced by normal hepatocytes. In some individuals, ECMPs accumulate in the periportal space, forming fibrosis deposits that reduce blood flow and cause varicose veins. These individuals may die from the subsequent effects of hepatic fibrosis. About 5 to 10% of the 350 million infected individuals develop severe hepatic fibrosis. Development of hepatic fibrosis in schistosome-infected individuals is influenced by a locus on chromosome 6q23, designated SM2, which contains 2 major candidate genes: IFNGR1 (107470), which encodes a chain of the receptor for interferon-gamma (IFNG; 147570), and CTGF (121009), which encodes a profibrogenic molecule produced by hepatocytes (summary by Dessein et al., 2009). (604201) (Updated 05-Apr-2021)

MalaCards based summary : Hepatic Fibrosis, Severe Due to Schistosoma Mansoni Infection, also known as hepatic fibrosis susceptibility due to schistosoma mansoni infection, is related to cholera and influenza. An important gene associated with Hepatic Fibrosis, Severe Due to Schistosoma Mansoni Infection is SM2 (Hepatic Fibrosis Susceptibility Due To Schistosoma Mansoni Infection).

Related Diseases for Hepatic Fibrosis, Severe Due to Schistosoma Mansoni Infection

Diseases in the Congenital Hepatic Fibrosis family:

Hepatic Fibrosis, Severe Due to Schistosoma Mansoni Infection

Diseases related to Hepatic Fibrosis, Severe Due to Schistosoma Mansoni Infection via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 cholera 10.1
2 influenza 10.1
3 atherosclerosis susceptibility 9.9
4 esophageal cancer 9.9
5 hypercholesterolemia, familial, 1 9.9
6 triiodothyronine receptor auxiliary protein 9.9
7 hydronephrosis 9.9
8 spinal muscular atrophy 9.9
9 urinary tract obstruction 9.9
10 muscular atrophy 9.9
11 neuroblastoma 9.9
12 47,xyy 9.9

Graphical network of the top 20 diseases related to Hepatic Fibrosis, Severe Due to Schistosoma Mansoni Infection:



Diseases related to Hepatic Fibrosis, Severe Due to Schistosoma Mansoni Infection

Symptoms & Phenotypes for Hepatic Fibrosis, Severe Due to Schistosoma Mansoni Infection

Clinical features from OMIM®:

604201 (Updated 05-Apr-2021)

Drugs & Therapeutics for Hepatic Fibrosis, Severe Due to Schistosoma Mansoni Infection

Search Clinical Trials , NIH Clinical Center for Hepatic Fibrosis, Severe Due to Schistosoma Mansoni Infection

Genetic Tests for Hepatic Fibrosis, Severe Due to Schistosoma Mansoni Infection

Anatomical Context for Hepatic Fibrosis, Severe Due to Schistosoma Mansoni Infection

Publications for Hepatic Fibrosis, Severe Due to Schistosoma Mansoni Infection

Articles related to Hepatic Fibrosis, Severe Due to Schistosoma Mansoni Infection:

# Title Authors PMID Year
1
Variants of CTGF are associated with hepatic fibrosis in Chinese, Sudanese, and Brazilians infected with schistosomes. 57
19822645 2009
2
Schistosomal hepatic fibrosis and the interferon gamma receptor: a linkage analysis using single-nucleotide polymorphic markers. 57
15756299 2005
3
Severe hepatic fibrosis in Schistosoma mansoni infection is controlled by a major locus that is closely linked to the interferon-gamma receptor gene. 57
10441577 1999

Variations for Hepatic Fibrosis, Severe Due to Schistosoma Mansoni Infection

Expression for Hepatic Fibrosis, Severe Due to Schistosoma Mansoni Infection

Search GEO for disease gene expression data for Hepatic Fibrosis, Severe Due to Schistosoma Mansoni Infection.

Pathways for Hepatic Fibrosis, Severe Due to Schistosoma Mansoni Infection

GO Terms for Hepatic Fibrosis, Severe Due to Schistosoma Mansoni Infection

Sources for Hepatic Fibrosis, Severe Due to Schistosoma Mansoni Infection

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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