Rajab interstitial lung disease with brain calcifications 1

Preferred Label : Rajab interstitial lung disease with brain calcifications 1;

Symbol : RILDBC1;

CISMeF acronym : RILDBC; NEDBLLA; RILDBC1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Developmental delay, small stature, microcephaly, and brain calcifications; Neurodevelopmental disorder with brain, liver, and lung abnormalities; NEDBLLA; Rajab syndrome; RILDBC; Rajab interstitial lung disease with brain calcifications;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the phenylalanine-tRNA synthetase, beta subunit gene (FARSB, 609690.0001);

Laboratory abnormalities : Hypoalbuminemia; Hypocalcemia; Vitamin D deficiency; Vitamin A deficiency; Abnormal liver enzymes;

Prefixed ID : #613658;

Details

Origin ID

613658;

UMLS CUI

C5436276;

CISMeF manual mappings
- Brain calcification Rajab type (disorder) [SNOMED CT concept]
Genes related to phenotype
- Phenylalanine-trna synthetase, beta subunit [OMIM gene]
HPO term(s)
- Abnormal pulmonary interstitial morphology [HPO term]
- Anasarca [HPO term]
- Anemia [HPO term]
- Ascites [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bile duct proliferation [HPO term]
- Cerebral atrophy [HPO term]
- Cerebral calcification [HPO term]
- Cholestasis [HPO term]
- Cirrhosis [HPO term]
- Cough [HPO term]
- Decreased liver function [HPO term]
- Deeply set eye [HPO term]
- Delayed skeletal maturation [HPO term]
- Dilatation of the cerebral artery [HPO term]
- Elevated hepatic transaminase [HPO term]
- Emphysema [HPO term]
- Esophageal varix [HPO term]
- Exercise intolerance [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties [HPO term]
- Fetal onset [HPO term]
- Gastroesophageal reflux [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Growth delay [HPO term]
- Headache [HPO term]
- Hepatic steatosis [HPO term]
- High palate [HPO term]
- Hypoalbuminemia [HPO term]
- Hypocalcemia [HPO term]
- Hypoglycemia [HPO term]
- Hypotelorism [HPO term]
- Hypotonia [HPO term]
- Infantile onset [HPO term]
- Inguinal hernia [HPO term]
- Intestinal malrotation [HPO term]
- Intrauterine growth retardation [HPO term]
- Joint laxity [HPO term]
- Low levels of vitamin A [HPO term]
- Low levels of vitamin D [HPO term]
- Microcephaly [HPO term]
- Oligohydramnios [HPO term]
- Osteopenia [HPO term]
- Pancytopenia [HPO term]
- Pectus excavatum [HPO term]
- Persistent head lag [HPO term]
- Portal hypertension [HPO term]
- Prominent forehead [HPO term]
- Recurrent urinary tract infections [HPO term]
- Reduced bone mineral density [HPO term]
- Respiratory failure [HPO term]
- Respiratory insufficiency [HPO term]
- Rickets [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Short stature [HPO term]
- Slender build [HPO term]
- Small for gestational age [HPO term]
- Small scrotum [HPO term]
- Small scrotum [HPO term]
- Specific learning disability [HPO term]
- Tachypnea [HPO term]
- Thin bony cortex [HPO term]
- Unconjugated hyperbilirubinemia [HPO term]
- Vomiting [HPO term]
ORDO concept(s)
- Brain calcification, Rajab type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Brain calcification Rajab type (disorder) [SNOMED CT concept]
- Brain calcification, Rajab type [ORDO Disease]
Validated automatic mappings to NTBT
- Brain calcification, Rajab type [ORDO Disease]

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