KEGG   DISEASE: Interstitial lung and liver diseaseHelp
H02124                      Disease                                

Interstitial lung and liver disease;
Hereditary pulmonary alveolar proteinosis with hepatic involvement
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.
Respiratory disease
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
MARS [HSA:4141] [KO:K01874]
Other DBs
ICD-11: CB04.3Y
ICD-10: J84.0
OMIM: 615486
Rips J, Meyer-Schuman R, Breuer O, Tsabari R, Shaag A, Revel-Vilk S, Reif S, Elpeleg O, Antonellis A, Harel T
MARS variant associated with both recessive interstitial lung and liver disease and dominant Charcot-Marie-Tooth disease.
Eur J Med Genet S1769-7212(17)30477-9 (2018)
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
Biallelic Mutations of Methionyl-tRNA Synthetase Cause a Specific Type of Pulmonary Alveolar Proteinosis Prevalent on Reunion Island.
Am J Hum Genet 96:826-31 (2015)
van Meel E, Wegner DJ, Cliften P, Willing MC, White FV, Kornfeld S, Cole FS
Rare recessive loss-of-function methionyl-tRNA synthetase mutations presenting as a multi-organ phenotype.
BMC Med Genet 14:106 (2013)

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