RILDBC
MCID: RJB002
MIFTS: 31

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 56 73 29 6
Rajab Syndrome 56 73 13
Rildbc 56 73
Neurodevelopmental Disorder with Brain, Liver, and Lung Abnormalities, Formerly; Nedblla, Formerly 56
Developmental Delay, Small Stature, Microcephaly, and Brain Calcifications, Formerly 56
Neurodevelopmental Disorder with Brain, Liver, and Lung Abnormalities, Formerly 56
Developmental Delay, Small Stature, Microcephaly, and Brain Calcifications 73
Neurodevelopmental Disorder with Brain, Liver, and Lung Abnormalities 73
Brain Calcification, Rajab Type 58
Nedblla, Formerly 56
Nedblla 73

Characteristics:

Orphanet epidemiological data:

58
brain calcification, rajab type
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
highly variable phenotype


HPO:

31
rajab interstitial lung disease with brain calcifications:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Rajab Interstitial Lung Disease with Brain Calcifications

OMIM : 56 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, and has symptoms including headache 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 delayed skeletal maturation and muscular hypotonia

UniProtKB/Swiss-Prot : 73 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:

31 (show top 50) (show all 52)
# Description HPO Frequency HPO Source Accession
1 delayed skeletal maturation 31 very rare (1%) HP:0002750
2 muscular hypotonia 31 very rare (1%) HP:0001252
3 scoliosis 31 very rare (1%) HP:0002650
4 abnormal facial shape 31 very rare (1%) HP:0001999
5 microcephaly 31 very rare (1%) HP:0000252
6 short stature 31 very rare (1%) HP:0004322
7 prominent forehead 31 very rare (1%) HP:0011220
8 anemia 31 very rare (1%) HP:0001903
9 reduced bone mineral density 31 very rare (1%) HP:0004349
10 cirrhosis 31 very rare (1%) HP:0001394
11 specific learning disability 31 very rare (1%) HP:0001328
12 elevated hepatic transaminase 31 very rare (1%) HP:0002910
13 pectus excavatum 31 very rare (1%) HP:0000767
14 intestinal malrotation 31 very rare (1%) HP:0002566
15 headache 31 very rare (1%) HP:0002315
16 hypotelorism 31 very rare (1%) HP:0000601
17 cerebral calcification 31 very rare (1%) HP:0002514
18 interstitial pulmonary abnormality 31 very rare (1%) HP:0006530
19 dilatation of the cerebral artery 31 very rare (1%) HP:0004944
20 exercise intolerance 31 very rare (1%) HP:0003546
21 thin bony cortex 31 very rare (1%) HP:0002753
22 seizure 31 very rare (1%) HP:0001250
23 inguinal hernia 31 HP:0000023
24 gastroesophageal reflux 31 HP:0002020
25 failure to thrive 31 HP:0001508
26 vomiting 31 HP:0002013
27 rickets 31 HP:0002748
28 portal hypertension 31 HP:0001409
29 emphysema 31 HP:0002097
30 feeding difficulties 31 HP:0011968
31 ascites 31 HP:0001541
32 cough 31 HP:0012735
33 osteopenia 31 HP:0000938
34 high palate 31 HP:0000218
35 hepatic steatosis 31 HP:0001397
36 respiratory insufficiency 31 HP:0002093
37 joint laxity 31 HP:0001388
38 slender build 31 HP:0001533
39 deeply set eye 31 HP:0000490
40 low levels of vitamin d 31 HP:0100512
41 hypocalcemia 31 HP:0002901
42 cholestasis 31 HP:0001396
43 hypoalbuminemia 31 HP:0003073
44 low levels of vitamin a 31 HP:0004905
45 oligohydramnios 31 HP:0001562
46 tachypnea 31 HP:0002789
47 cerebral atrophy 31 HP:0002059
48 pancytopenia 31 HP:0001876
49 generalized hypotonia 31 HP:0001290
50 decreased liver function 31 HP:0001410

Symptoms via clinical synopsis from OMIM:

56
Muscle Soft Tissue:
inguinal hernia
ascites
hypotonia

Abdomen Gastrointestinal:
gastroesophageal reflux
vomiting
poor feeding

Skeletal:
rickets
osteopenia
joint laxity

Abdomen Liver:
portal hypertension
cirrhosis
hepatic steatosis
cholestasis
bile duct proliferation
more
Hematology:
anemia
pancytopenia
coagulation defects

Respiratory:
respiratory insufficiency
tachypnea
chronic cough

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 Height:
short stature

Growth Other:
failure to thrive

Cardiovascular Vascular:
portal hypertension
pulmonary hypertension

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

Abdomen External Features:
ascites

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

Neurologic Central Nervous System:
cerebral atrophy
seizures (in some patients)
intracranial calcifications
intracranial aneurysm
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

UMLS symptoms related to Rajab Interstitial Lung Disease with Brain Calcifications:


headache

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

Genetic tests related to Rajab Interstitial Lung Disease with Brain Calcifications:

# Genetic test Affiliating Genes
1 Rajab Interstitial Lung Disease with Brain Calcifications 29 FARSB

Anatomical Context for Rajab Interstitial Lung Disease with Brain Calcifications

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

40
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. 56 6 61
19161147 2009
2
Homozygosity for FARSB mutation leads to Phe-tRNA synthetase-related disease of growth restriction, brain calcification, and interstitial lung disease. 6 56
30014610 2018
3
Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational Function. 56 6
29979980 2018
4
Compound heterozygosity for loss-of-function FARSB variants in a patient with classic features of recessive aminoacyl-tRNA synthetase-related disease. 6 56
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 Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FARSB NM_005687.5(FARSB):c.848+1G>ASNV Pathogenic 545501 rs777071414 2:223494831-223494831 2:222630112-222630112
2 FARSB NM_005687.5(FARSB):c.1381A>C (p.Thr461Pro)SNV Pathogenic 545642 rs1396171148 2:223478611-223478611 2:222613892-222613892
3 FARSB NM_005687.5(FARSB):c.1202G>A (p.Arg401Gln)SNV Pathogenic 545664 rs1553553086 2:223488418-223488418 2:222623699-222623699
4 FARSB NM_005687.5(FARSB):c.755T>C (p.Phe252Ser)SNV Pathogenic 545694 rs1466642025 2:223496354-223496354 2:222631635-222631635
5 FARSB NM_005687.5(FARSB):c.1486delinsAA (p.His496fs)indel Pathogenic 487456 rs1553549333 2:223464779-223464779 2:222600060-222600060
6 FARSB NM_005687.5(FARSB):c.767C>T (p.Thr256Met)SNV Pathogenic/Likely pathogenic 487455 rs753710639 2:223496342-223496342 2:222631623-222631623
7 FARSB NM_005687.5(FARSB):c.914G>A (p.Arg305Gln)SNV Likely pathogenic 545502 rs773579570 2:223489481-223489481 2:222624762-222624762
8 FARSB NM_005687.5(FARSB):c.853G>A (p.Glu285Lys)SNV Conflicting interpretations of pathogenicity 559418 rs767956337 2:223493603-223493603 2:222628884-222628884

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

73
# 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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