KEGG   DISEASE: Rajab interstitial lung disease with brain calcification
Entry
H02466                      Disease                                
Name
Rajab interstitial lung disease with brain calcification
Description
Rajab interstitial lung disease with brain calcification (RILDBC) is severe growth restriction with combined brain, liver and lung involvement. Mutations in genes encoding phenylalanyl-tRNA synthetases cause this disease.
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
   CB05  Interstitial lung diseases associated with systemic diseases
    H02466  Rajab interstitial lung disease with brain calcification
Pathway
hsa00970  Aminoacyl-tRNA biosynthesis
Gene
(RILDBC1) FARSB [HSA:10056] [KO:K01890]
(RILDBC2) FARSA [HSA:2193] [KO:K01889]
Other DBs
ICD-11: CB05.Y
OMIM: 613658 619013
Reference
PMID:19161147
  Authors
Rajab A, Aldinger KA, El-Shirbini HA, Dobyns WB, Ross ME
  Title
Recessive developmental delay, small stature, microcephaly and brain calcifications with locus on chromosome 2.
  Journal
Am J Med Genet A 149A:129-37 (2009)
DOI:10.1002/ajmg.a.32630
Reference
PMID:29573043
  Authors
Antonellis A, Oprescu SN, Griffin LB, Heider A, Amalfitano A, Innis JW
  Title
Compound heterozygosity for loss-of-function FARSB variants in a patient with classic features of recessive aminoacyl-tRNA synthetase-related disease.
  Journal
Hum Mutat 39:834-840 (2018)
DOI:10.1002/humu.23424
Reference
PMID:31355908
  Authors
Krenke K, Szczaluba K, Bielecka T, Rydzanicz M, Lange J, Koppolu A, Ploski R
  Title
FARSA mutations mimic phenylalanyl-tRNA synthetase deficiency caused by FARSB defects.
  Journal
Clin Genet 96:468-472 (2019)
DOI:10.1111/cge.13614
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