RILDBC
MCID: RJB002
MIFTS: 28

Rajab Interstitial Lung Disease with Brain Calcifications (RILDBC)

Categories: Genetic diseases, 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 57 74
Rajab Syndrome 57 74 13 6
Neurodevelopmental Disorder with Brain, Liver, and Lung Abnormalities 74 6
Rildbc 57 74
Neurodevelopmental Disorder with Brain, Liver, and Lung Abnormalities, Formerly; Nedblla, Formerly 57
Developmental Delay, Small Stature, Microcephaly, and Brain Calcifications, Formerly 57
Neurodevelopmental Disorder with Brain, Liver, and Lung Abnormalities, Formerly 57
Developmental Delay, Small Stature, Microcephaly, and Brain Calcifications 74
Brain Calcification, Rajab Type 59
Nedblla, Formerly 57
Nedblla 74

Characteristics:

Orphanet epidemiological data:

59
brain calcification, rajab type
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
highly variable phenotype


HPO:

32
rajab interstitial lung disease with brain calcifications:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 613658
MeSH 44 D065886
Orphanet 59 ORPHA178506
MedGen 42 C3150910

Summaries for Rajab Interstitial Lung Disease with Brain Calcifications

OMIM : 57 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, also known as rajab syndrome, is related to aicardi-goutieres syndrome and microcephaly. 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 liver, and related phenotypes are pectus excavatum and seizures

UniProtKB/Swiss-Prot : 74 Rajab interstitial lung disease with brain calcifications: An autosomal recessive, lethal neurodevelopmental disorder characterized by multiple clinical manifestations including intrauterine growth restriction, failure to thrive, developmental delay, hypotonia, interstitial lung disease, and liver dysfunction. Brain imaging shows abnormal periventricular white matter, basal ganglia echogenicity, cerebral volume loss, incomplete closure of the Sylvian fissures, and normal myelination.

Related Diseases for Rajab Interstitial Lung Disease with Brain Calcifications

Diseases related to Rajab Interstitial Lung Disease with Brain Calcifications via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 aicardi-goutieres syndrome 10.3
2 microcephaly 10.3

Symptoms & Phenotypes for Rajab Interstitial Lung Disease with Brain Calcifications

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

32 (show top 50) (show all 51)
# Description HPO Frequency HPO Source Accession
1 pectus excavatum 32 very rare (1%) HP:0000767
2 seizures 32 very rare (1%) HP:0001250
3 muscular hypotonia 32 very rare (1%) HP:0001252
4 cerebral calcification 32 very rare (1%) HP:0002514
5 scoliosis 32 very rare (1%) HP:0002650
6 delayed skeletal maturation 32 very rare (1%) HP:0002750
7 abnormal facial shape 32 very rare (1%) HP:0001999
8 microcephaly 32 very rare (1%) HP:0000252
9 short stature 32 very rare (1%) HP:0004322
10 prominent forehead 32 very rare (1%) HP:0011220
11 anemia 32 very rare (1%) HP:0001903
12 reduced bone mineral density 32 very rare (1%) HP:0004349
13 cirrhosis 32 very rare (1%) HP:0001394
14 specific learning disability 32 very rare (1%) HP:0001328
15 elevated hepatic transaminase 32 very rare (1%) HP:0002910
16 headache 32 very rare (1%) HP:0002315
17 intestinal malrotation 32 very rare (1%) HP:0002566
18 hypotelorism 32 very rare (1%) HP:0000601
19 exercise intolerance 32 very rare (1%) HP:0003546
20 interstitial pulmonary abnormality 32 very rare (1%) HP:0006530
21 dilatation of the cerebral artery 32 very rare (1%) HP:0004944
22 thin bony cortex 32 very rare (1%) HP:0002753
23 high palate 32 HP:0000218
24 osteopenia 32 HP:0000938
25 failure to thrive 32 HP:0001508
26 respiratory insufficiency 32 HP:0002093
27 inguinal hernia 32 HP:0000023
28 gastroesophageal reflux 32 HP:0002020
29 portal hypertension 32 HP:0001409
30 vomiting 32 HP:0002013
31 rickets 32 HP:0002748
32 emphysema 32 HP:0002097
33 decreased liver function 32 HP:0001410
34 ascites 32 HP:0001541
35 pancytopenia 32 HP:0001876
36 generalized hypotonia 32 HP:0001290
37 feeding difficulties 32 HP:0011968
38 hepatic steatosis 32 HP:0001397
39 joint laxity 32 HP:0001388
40 deeply set eye 32 HP:0000490
41 slender build 32 HP:0001533
42 hypocalcemia 32 HP:0002901
43 cholestasis 32 HP:0001396
44 oligohydramnios 32 HP:0001562
45 cerebral atrophy 32 HP:0002059
46 tachypnea 32 HP:0002789
47 hypoalbuminemia 32 HP:0003073
48 low levels of vitamin a 32 HP:0004905
49 bile duct proliferation 32 HP:0001408
50 low levels of vitamin d 32 HP:0100512

Symptoms via clinical synopsis from OMIM:

57
Skeletal:
osteopenia
rickets
joint laxity

Respiratory:
respiratory insufficiency
tachypnea
chronic cough

Growth Height:
short stature

Cardiovascular Vascular:
portal hypertension
pulmonary hypertension

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

Hematology:
anemia
pancytopenia
coagulation defects

Prenatal Manifestations Amniotic Fluid:
oligohydramnios

Genitourinary External Genitalia Male:
small scrotum
small phallus

Head And Neck Eyes:
deep-set eyes

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
cirrhosis
hepatic steatosis
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 Mouth:
high-arched palate

Head And Neck Head:
microcephaly (in some patients)

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:

41
Brain, Lung, Liver, Eye, Bone, Cortex

Publications for Rajab Interstitial Lung Disease with Brain Calcifications

Articles related to Rajab Interstitial Lung Disease with Brain Calcifications:

# Title Authors PMID Year
1
Recessive developmental delay, small stature, microcephaly and brain calcifications with locus on chromosome 2. 38 8 71
19161147 2009
2
Homozygosity for FARSB mutation leads to Phe-tRNA synthetase-related disease of growth restriction, brain calcification, and interstitial lung disease. 8 71
30014610 2018
3
Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational Function. 8 71
29979980 2018
4
Compound heterozygosity for loss-of-function FARSB variants in a patient with classic features of recessive aminoacyl-tRNA synthetase-related disease. 8 71
29573043 2018

Variations for Rajab Interstitial Lung Disease with Brain Calcifications

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

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 FARSB NM_005687.5(FARSB): c.848+1G> A single nucleotide variant Pathogenic rs777071414 2:223494831-223494831 2:222630112-222630112
2 FARSB NM_005687.5(FARSB): c.1381A> C (p.Thr461Pro) single nucleotide variant Pathogenic rs1396171148 2:223478611-223478611 2:222613892-222613892
3 FARSB NM_005687.5(FARSB): c.1202G> A (p.Arg401Gln) single nucleotide variant Pathogenic rs1553553086 2:223488418-223488418 2:222623699-222623699
4 FARSB NM_005687.5(FARSB): c.755T> C (p.Phe252Ser) single nucleotide variant Pathogenic rs1466642025 2:223496354-223496354 2:222631635-222631635
5 FARSB NM_005687.5(FARSB): c.767C> T (p.Thr256Met) single nucleotide variant Pathogenic/Likely pathogenic rs753710639 2:223496342-223496342 2:222631623-222631623
6 FARSB NM_005687.5(FARSB): c.1486delinsAA (p.His496fs) indel Pathogenic/Likely pathogenic rs1553549333 2:223464779-223464779 2:222600060-222600060
7 FARSB NM_005687.5(FARSB): c.914G> A (p.Arg305Gln) single nucleotide variant Likely pathogenic rs773579570 2:223489481-223489481 2:222624762-222624762
8 FARSB NM_005687.5(FARSB): c.853G> A (p.Glu285Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs767956337 2:223493603-223493603 2:222628884-222628884

UniProtKB/Swiss-Prot genetic disease variations for Rajab Interstitial Lung Disease with Brain Calcifications:

74
# Symbol AA change Variation ID SNP ID
1 FARSB p.Cys76Arg VAR_081054 rs141912987
2 FARSB p.Phe252Ser VAR_081055 rs146664202
3 FARSB p.Thr256Met VAR_081056 rs753710639
4 FARSB p.Lys262Glu VAR_081057 rs155355454
5 FARSB p.Glu285Lys VAR_081058 rs767956337
6 FARSB p.Arg305Gln VAR_081059 rs773579570
7 FARSB p.Arg401Gln VAR_081060 rs155355308
8 FARSB p.Thr461Pro VAR_081061 rs139617114

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
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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