Information on RILDBC2
Name: FARSA deficiency | Acronym: RILDBC2
Alt. names: Rajab interstitial lung disease with brain calcifications 2
Gene: FARSA | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2019
Last updated on: 2024-02-07 15:34:32 by Andrés Caballero-Oteyza
Description
Condition first reported in 2019 in one case with interstitial lung disease, brain calcifications, pneumonitis, growth delay, hypotonia, and liver dysfunction (PMIDs: 31355908). Charbit-Henrion et al. reported in 2022 signs of systemic inflammation in 4 children from 2 consanguineous families with significantly reduced PheRS-mediated aminoacylation activity. All 4 patients showed dysmorphic features, growth retardation, hypoalbuminemia, and an inflammatory profile associated with autoimmunity. Additional features included sevre diarrhea, hepatomegaly, portal hepatitis with moderate fibrosis and steatosis, polypnea, digital clubbing, cough, interstitial lung disease evolving to fibrosis and respiratory failure (PMID:35132614).
Management
JAK inhibition improved lung disease in one patient (PMID:35132614)
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.
Summary of clinical findings
[Considering only Definitive and Possible cases]
| Rank | Clinical phenotype | Present | Absent | Unreported |
|---|---|---|---|---|
| 1 | Interstitial lung disease |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Arachnodactyly |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Cough |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Decreased muscle mass |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | Deeply set eye |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 6 | Elevated hepatic transaminases |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 7 | Elfin facies |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 8 | Exercise intolerance |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 9 | Feeding difficulties in infancy |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 10 | Generalized hypotonia |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 11 | Global developmental delay |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 12 | Hepatic steatosis |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 13 | Hepatosplenomegaly |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 14 | Hypertriglyceridemia |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 15 | Hypoalbuminemia |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 16 | Hypopituitarism |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 17 | Hypothyroidism |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 18 | Joint hypermobility |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 19 | Microcephaly |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 20 | Microcytic anemia |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 21 | Oligohydramnios |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 22 | Periventricular cysts |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 23 | Restrictive ventilatory defect |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 24 | Scoliosis |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 25 | short stature |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
Age of onset
distribution
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Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.
0 reported cases added to GenIA
| SubjectID | Sex | Fam.ID | AD | AFM | Validity | Country | Population | Reference & Pub.code |
|---|
AD: Age at genetic diagnosis; AFM: age at first manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).