KEGG DISEASE: Interstitial lung and liver disease

KEGG

DISEASE: Interstitial lung and liver disease

Entry

H02124                      Disease

Name

Interstitial lung and liver disease;
Hereditary pulmonary alveolar proteinosis with hepatic involvement

Description

Interstitial lung and liver disease (ILLD) is an autosomal recessive severe childhood form of pulmonary alveolar proteinosis. The main symptom is respiratory insufficiency, often leading to death in childhood or adolescence as a result of lung fibrosis. In addition to lung fibrosis, non-life-threatening liver involvement might be present, as indicated by elevated enzymes, steatosis, fibrosis, or cirrhosis. The mutations in MARS associated with ILLD have been reported.

Category

Respiratory system disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
12 Diseases of the respiratory system
  Respiratory diseases principally affecting the lung interstitium
   CB04  Primary interstitial lung diseases specific to infancy or childhood
    H02124  Interstitial lung and liver disease

Gene

(ILLD) MARS [HSA:4141] [KO:K01874]

Other DBs

ICD-11:

OMIM:

Reference

Authors

Rips J, Meyer-Schuman R, Breuer O, Tsabari R, Shaag A, Revel-Vilk S, Reif S, Elpeleg O, Antonellis A, Harel T

Title

MARS variant associated with both recessive interstitial lung and liver disease and dominant Charcot-Marie-Tooth disease.

Journal

Eur J Med Genet S1769-7212(17)30477-9 (2018)
DOI:10.1016/j.ejmg.2018.04.005

Reference

Authors

Hadchouel A, Wieland T, Griese M, Baruffini E, Lorenz-Depiereux B, Enaud L, Graf E, Dubus JC, Halioui-Louhaichi S, Coulomb A, Delacourt C, Eckstein G, Zarbock R, Schwarzmayr T, Cartault F, Meitinger T, Lodi T, de Blic J, Strom TM

Title

Biallelic Mutations of Methionyl-tRNA Synthetase Cause a Specific Type of Pulmonary Alveolar Proteinosis Prevalent on Reunion Island.

Journal

Am J Hum Genet 96:826-31 (2015)
DOI:10.1016/j.ajhg.2015.03.010

Reference

Authors

van Meel E, Wegner DJ, Cliften P, Willing MC, White FV, Kornfeld S, Cole FS

Title

Rare recessive loss-of-function methionyl-tRNA synthetase mutations presenting as a multi-organ phenotype.

Journal

BMC Med Genet 14:106 (2013)
DOI:10.1186/1471-2350-14-106

LinkDB

» Japanese version

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