Interstitial lung and liver disease

Preferred Label : Interstitial lung and liver disease;

Symbol : ILLD;

CISMeF acronym : ILFS2; ILLD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : ILFS2; Infantile liver failure syndrome 2; Pulmonary alveolar proteinosis, reunion island;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the methionyl-tRNA synthetase gene (MARS, 156560.0001);

Laboratory abnormalities : Aminoaciduria (patient A); Abnormal liver enzymes; Lactic acidosis, intermittent (patient A);

Prefixed ID : #615486;

Details

Origin ID

615486;

UMLS CUI

C4225400;

Currated CISMeF NLP mapping
- Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [ORDO Disease]
- Severe early-onset pulmonary alveolar proteinosis due to methionyl-transfer ribonucleic acid synthetase 1 deficiency (disorder) [SNOMED CT concept]
Genes related to phenotype
- Methionyl-trna synthetase 1 [OMIM gene]
HPO term(s)
- Abnormal pulmonary interstitial morphology [HPO term]
- Aminoaciduria [HPO term]
- Anemia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Childhood onset [HPO term]
- Cholestasis [HPO term]
- Cirrhosis [HPO term]
- Clubbing [HPO term]
- Cough [HPO term]
- Dyspnea [HPO term]
- Elevated circulating alanine aminotransferase concentration [HPO term]
- Elevated circulating aspartate aminotransferase concentration [HPO term]
- Elevated gamma-glutamyltransferase level [HPO term]
- Failure to thrive [HPO term]
- Hepatic failure [HPO term]
- Hepatic fibrosis [HPO term]
- Hepatic steatosis [HPO term]
- Hepatomegaly [HPO term]
- Hyperammonemia [HPO term]
- Hypothyroidism [HPO term]
- Hypotonia [HPO term]
- Hypoxemia [HPO term]
- Infantile onset [HPO term]
- Intraalveolar phospholipid accumulation [HPO term]
- Lactic acidosis [HPO term]
- Motor delay [HPO term]
- Neonatal onset [HPO term]
- Progressive [HPO term]
- Pulmonary fibrosis [HPO term]
- Respiratory insufficiency [HPO term]
- Thrombocytosis [HPO term]
- Vomiting [HPO term]
ORDO concept(s)
- Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [ORDO Disease]
See also inter- (CISMeF)
- Infantile Liver Failure Syndrome 2 [NCIt concept]
- NBAS wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Severe early-onset pulmonary alveolar proteinosis due to methionyl-transfer ribonucleic acid synthetase 1 deficiency (disorder) [SNOMED CT concept]

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