RILDBC
MCID: RJB002
MIFTS: 25

Rajab Interstitial Lung Disease with Brain Calcifications (RILDBC)

Categories: Liver diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Rajab Interstitial Lung Disease with Brain Calcifications

MalaCards integrated aliases for Rajab Interstitial Lung Disease with Brain Calcifications:

Name: Rajab Interstitial Lung Disease with Brain Calcifications 58
Rajab Syndrome 58 13 6
Neurodevelopmental Disorder with Brain, Liver, and Lung Abnormalities, Formerly; Nedblla, Formerly 58
Developmental Delay, Small Stature, Microcephaly, and Brain Calcifications, Formerly 58
Neurodevelopmental Disorder with Brain, Liver, and Lung Abnormalities, Formerly 58
Brain Calcification, Rajab Type 60
Nedblla, Formerly 58
Rildbc 58

Characteristics:

Orphanet epidemiological data:

60
brain calcification, rajab type
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
highly variable phenotype


HPO:

33
rajab interstitial lung disease with brain calcifications:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Rajab Interstitial Lung Disease with Brain Calcifications

OMIM : 58 Rajab interstitial lung disease with brain calcifications (RILCBC) is an autosomal recessive multisystem disorder with a highly variable phenotype. Most patients present in infancy or early childhood with poor growth and interstitial lung disease, which may lead to death. Some may also have liver, skeletal, and renal abnormalities, and most have intracranial calcifications on brain imaging. Some may have early impaired motor development, but most have normal cognitive development (summary by Xu et al., 2018). (613658)

MalaCards based summary : Rajab Interstitial Lung Disease with Brain Calcifications, is also known as rajab syndrome. An important gene associated with Rajab Interstitial Lung Disease with Brain Calcifications is FARSB (Phenylalanyl-TRNA Synthetase Subunit Beta). Affiliated tissues include brain, lung and bone, and related phenotypes are pectus excavatum and muscular hypotonia

Related Diseases for Rajab Interstitial Lung Disease with Brain Calcifications

Symptoms & Phenotypes for Rajab Interstitial Lung Disease with Brain Calcifications

Human phenotypes related to Rajab Interstitial Lung Disease with Brain Calcifications:

33 (show all 20)
# Description HPO Frequency HPO Source Accession
1 pectus excavatum 33 very rare (1%) HP:0000767
2 muscular hypotonia 33 very rare (1%) HP:0001252
3 cerebral calcification 33 very rare (1%) HP:0002514
4 scoliosis 33 very rare (1%) HP:0002650
5 delayed skeletal maturation 33 very rare (1%) HP:0002750
6 microcephaly 33 very rare (1%) HP:0000252
7 short stature 33 very rare (1%) HP:0004322
8 prominent forehead 33 very rare (1%) HP:0011220
9 anemia 33 very rare (1%) HP:0001903
10 reduced bone mineral density 33 very rare (1%) HP:0004349
11 specific learning disability 33 very rare (1%) HP:0001328
12 elevated hepatic transaminase 33 very rare (1%) HP:0002910
13 cirrhosis 33 very rare (1%) HP:0001394
14 headache 33 very rare (1%) HP:0002315
15 intestinal malrotation 33 very rare (1%) HP:0002566
16 hypotelorism 33 very rare (1%) HP:0000601
17 exercise intolerance 33 very rare (1%) HP:0003546
18 interstitial pulmonary abnormality 33 very rare (1%) HP:0006530
19 dilatation of the cerebral artery 33 very rare (1%) HP:0004944
20 thin bony cortex 33 very rare (1%) HP:0002753

Symptoms via clinical synopsis from OMIM:

58
Skeletal:
osteopenia
rickets
joint laxity

Respiratory:
respiratory insufficiency
tachypnea
chronic cough

Growth Height:
short stature

Cardiovascular Vascular:
portal hypertension
pulmonary hypertension

Respiratory Lung:
emphysema
interstitial lung disease
fibrosis
cholesterol-laden granulomas

Hematology:
anemia
pancytopenia
coagulation defects

Prenatal Manifestations Amniotic Fluid:
oligohydramnios

Head And Neck Mouth:
high-arched palate

Head And Neck Head:
microcephaly (in some patients)

Head And Neck Face:
prominent cheeks
dysmorphic facial features (in some patients)

Genitourinary Kidneys:
renal echogenicity

Growth Other:
failure to thrive

Muscle Soft Tissue:
inguinal hernia
ascites
hypotonia

Abdomen Gastrointestinal:
gastroesophageal reflux
vomiting
poor feeding

Abdomen Liver:
portal hypertension
hepatic steatosis
cirrhosis
cholestasis
bile duct proliferation
more
Abdomen External Features:
ascites

Laboratory Abnormalities:
hypocalcemia
vitamin d deficiency
hypoalbuminemia
vitamin a deficiency
abnormal liver enzymes

Neurologic Central Nervous System:
cerebral atrophy
intracranial calcifications
intracranial aneurysm
seizures (in some patients)
delayed development, motor, mild (in some patients)
more
Head And Neck Eyes:
deep-set eyes

Genitourinary External Genitalia Male:
small phallus
small scrotum

Growth Weight:
thin build

Clinical features from OMIM:

613658

Drugs & Therapeutics for Rajab Interstitial Lung Disease with Brain Calcifications

Search Clinical Trials , NIH Clinical Center for Rajab Interstitial Lung Disease with Brain Calcifications

Genetic Tests for Rajab Interstitial Lung Disease with Brain Calcifications

Anatomical Context for Rajab Interstitial Lung Disease with Brain Calcifications

MalaCards organs/tissues related to Rajab Interstitial Lung Disease with Brain Calcifications:

42
Brain, Lung, Bone, Eye, Cortex

Publications for Rajab Interstitial Lung Disease with Brain Calcifications

Articles related to Rajab Interstitial Lung Disease with Brain Calcifications:

# Title Authors Year
1
Homozygosity for FARSB mutation leads to Phe-tRNA synthetase-related disease of growth restriction, brain calcification, and interstitial lung disease. ( 30014610 )
2018
2
Compound heterozygosity for loss-of-function FARSB variants in a patient with classic features of recessive aminoacyl-tRNA synthetase-related disease. ( 29573043 )
2018
3
Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational Function. ( 29979980 )
2018
4
Recessive developmental delay, small stature, microcephaly and brain calcifications with locus on chromosome 2. ( 19161147 )
2009

Variations for Rajab Interstitial Lung Disease with Brain Calcifications

ClinVar genetic disease variations for Rajab Interstitial Lung Disease with Brain Calcifications:

6 (show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 FARSB NM_005687.4(FARSB): c.767C> T (p.Thr256Met) single nucleotide variant Pathogenic/Likely pathogenic rs753710639 GRCh37 Chromosome 2, 223496342: 223496342
2 FARSB NM_005687.4(FARSB): c.767C> T (p.Thr256Met) single nucleotide variant Pathogenic/Likely pathogenic rs753710639 GRCh38 Chromosome 2, 222631623: 222631623
3 FARSB NM_005687.4(FARSB): c.1486delCinsAA (p.His496Lysfs) indel Pathogenic/Likely pathogenic rs1553549333 GRCh38 Chromosome 2, 222600060: 222600060
4 FARSB NM_005687.4(FARSB): c.1486delCinsAA (p.His496Lysfs) indel Pathogenic/Likely pathogenic rs1553549333 GRCh37 Chromosome 2, 223464779: 223464779
5 FARSB NM_005687.4(FARSB): c.914G> A (p.Arg305Gln) single nucleotide variant Likely pathogenic rs773579570 GRCh37 Chromosome 2, 223489481: 223489481
6 FARSB NM_005687.4(FARSB): c.914G> A (p.Arg305Gln) single nucleotide variant Likely pathogenic rs773579570 GRCh38 Chromosome 2, 222624762: 222624762
7 FARSB NM_005687.4(FARSB): c.848+1G> A single nucleotide variant Pathogenic rs777071414 GRCh37 Chromosome 2, 223494831: 223494831
8 FARSB NM_005687.4(FARSB): c.848+1G> A single nucleotide variant Pathogenic rs777071414 GRCh38 Chromosome 2, 222630112: 222630112
9 FARSB NM_005687.4(FARSB): c.1381A> C (p.Thr461Pro) single nucleotide variant Pathogenic rs1396171148 GRCh38 Chromosome 2, 222613892: 222613892
10 FARSB NM_005687.4(FARSB): c.1381A> C (p.Thr461Pro) single nucleotide variant Pathogenic rs1396171148 GRCh37 Chromosome 2, 223478611: 223478611
11 FARSB NM_005687.4(FARSB): c.1202G> A (p.Arg401Gln) single nucleotide variant Pathogenic rs1553553086 GRCh37 Chromosome 2, 223488418: 223488418
12 FARSB NM_005687.4(FARSB): c.1202G> A (p.Arg401Gln) single nucleotide variant Pathogenic rs1553553086 GRCh38 Chromosome 2, 222623699: 222623699
13 FARSB NM_005687.4(FARSB): c.755T> C (p.Phe252Ser) single nucleotide variant Pathogenic rs1466642025 GRCh38 Chromosome 2, 222631635: 222631635
14 FARSB NM_005687.4(FARSB): c.755T> C (p.Phe252Ser) single nucleotide variant Pathogenic rs1466642025 GRCh37 Chromosome 2, 223496354: 223496354
15 FARSB NM_005687.4(FARSB): c.853G> A (p.Glu285Lys) single nucleotide variant Likely pathogenic rs767956337 GRCh37 Chromosome 2, 223493603: 223493603
16 FARSB NM_005687.4(FARSB): c.853G> A (p.Glu285Lys) single nucleotide variant Likely pathogenic rs767956337 GRCh38 Chromosome 2, 222628884: 222628884

Expression for Rajab Interstitial Lung Disease with Brain Calcifications

Search GEO for disease gene expression data for Rajab Interstitial Lung Disease with Brain Calcifications.

Pathways for Rajab Interstitial Lung Disease with Brain Calcifications

GO Terms for Rajab Interstitial Lung Disease with Brain Calcifications

Sources for Rajab Interstitial Lung Disease with Brain Calcifications

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
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31 HGMD
32 HMDB
33 HPO
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35 ICD10 via Orphanet
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45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
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52 NDF-RT
55 NINDS
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58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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