KEGG   DISEASE: Interstitial lung and liver diseaseHelp
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 disease
Brite
Human diseases [BR:br08402]
 Respiratory diseases
  Lung diseases
   H02124  Interstitial lung and liver disease
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
BRITE hierarchy
Gene
MARS [HSA:4141] [KO:K01874]
Other DBs
ICD-11: CB04.3Y
ICD-10: J84.0
OMIM: 615486
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

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