Rajab interstitial lung disease with brain calcifications 1
MONDO:0100215Mondo
Findings
No curated finding names Rajab interstitial lung disease with brain calcifications 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Fetal onset
HPO, annotations 2026-09-02
Features
59 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal pulmonary interstitial morphologyHPOHP:0006530
- 6 of 6 reported patients
- AnasarcaHPOHP:0012050
- 1 of 1 reported patient
- AnemiaHPOHP:0001903
- 7 of 7 reported patients
- AscitesHPOHP:0001541
- 1 of 1 reported patient
- Axial hypotoniaHPOHP:0008936
- 1 of 1 reported patient
- Bile duct proliferationHPOHP:0001408
- 1 of 1 reported patient
- CholestasisHPOHP:0001396
- 1 of 1 reported patient
- CoughHPOHP:0012735
- 1 of 1 reported patient
- Decreased circulating vitamin D concentrationHPOHP:0100512
- 1 of 1 reported patient
- Decreased liver functionHPOHP:0001410
- 1 of 1 reported patient
- Deeply set eyeHPOHP:0000490
- 1 of 1 reported patient
- Delayed skeletal maturationHPOHP:0002750
- 7 of 7 reported patients
Show the remaining 47
- Dilatation of the cerebral arteryHPOHP:0004944
- 2 of 2 reported patients
- Esophageal varixHPOHP:0002040
- 1 of 1 reported patient
- Exercise intoleranceHPOHP:0003546
- 8 of 8 reported patients
- Failure to thriveHPOHP:0001508
- 1 of 1 reported patient
- Feeding difficultiesHPOHP:0011968
- 1 of 1 reported patient
- Gastroesophageal refluxHPOHP:0002020
- 1 of 1 reported patient
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- FARSBHGNC:17800
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
2 names
Resolves to: Rajab interstitial lung disease with brain calcifications 1
- Also called
- brain calcification, Rajab typeneurodevelopmental disorder with brain, liver, and lung abnormalities