KEGG DISEASE: Chronic nonspecific multiple ulcers of the small intestine

KEGG

DISEASE: Chronic nonspecific multiple ulcers of the small intestine

Entry

H01853                      Disease

Name

Chronic nonspecific multiple ulcers of the small intestine

Description

Chronic nonspecific multiple ulcers of the small intestine (CNSU) are characterized by multiple thin ulcers and concentric stenosis. CNSU predominantly occurs in females and the symptoms, such as general fatigue, edema, and abdominal pain, appear during adolescence. The clinical course of the disease is chronic and intractable with reduced effects of immunosuppressive treatment. Recently, it has been indicated that loss-of-function mutations in the SLCO2A1 gene encoding a prostaglandin transporter cause CNSU.

Category

Digestive system disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
13 Diseases of the digestive system
  Diseases of small intestine
   DA94  Noninfectious enteritis or ulcer of small intestine
    H01853  Chronic nonspecific multiple ulcers of the small intestine

Gene

SLCO2A1 [HSA:6578] [KO:K14345]

Comment

See also H00457 Primary hypertrophic osteoarthropathy

Other DBs

ICD-11:

Reference

Authors

Umeno J, Hisamatsu T, Esaki M, Hirano A, Kubokura N, Asano K, Kochi S, Yanai S, Fuyuno Y, Shimamura K, Hosoe N, Ogata H, Watanabe T, Aoyagi K, Ooi H, Watanabe K, Yasukawa S, Hirai F, Matsui T, Iida M, Yao T, Hibi T, Kosaki K, Kanai T, Kitazono T, Matsumoto T

Title

A Hereditary Enteropathy Caused by Mutations in the SLCO2A1 Gene, Encoding a Prostaglandin Transporter.

Journal

PLoS Genet 11:e1005581 (2015)
DOI:10.1371/journal.pgen.1005581

Reference

Authors

Matsumoto T, Kubokura N, Matsui T, Iida M, Yao T

Title

Chronic nonspecific multiple ulcer of the small intestine segregates in offspring from consanguinity.

Journal

J Crohns Colitis 5:559-65 (2011)
DOI:10.1016/j.crohns.2011.05.008

LinkDB

» Japanese version

DBGET integrated database retrieval system