RILDBC1
MCID: RJB003
MIFTS: 31

Rajab Interstitial Lung Disease with Brain Calcifications 1 (RILDBC1)

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

Aliases & Classifications for Rajab Interstitial Lung Disease with Brain Calcifications 1

MalaCards integrated aliases for Rajab Interstitial Lung Disease with Brain Calcifications 1:

Name: Rajab Interstitial Lung Disease with Brain Calcifications 1 57
Rajab Interstitial Lung Disease with Brain Calcifications 57 73 29 6
Rajab Syndrome 57 73 13
Rildbc 57 73
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 73
Neurodevelopmental Disorder with Brain, Liver, and Lung Abnormalities 73
Rajab Interstitial Lung Disease with Brain Calcifications; Rildbc 57
Rajab Interstitial Lung Disease with Brain Calcification 36
Brain Calcification, Rajab Type 58
Nedblla, Formerly 57
Rildbc1 57
Nedblla 73

Characteristics:

Orphanet epidemiological data:

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

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
highly variable phenotype


HPO:

31
rajab interstitial lung disease with brain calcifications 1:
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 1

OMIM® : 57 Rajab interstitial lung disease with brain calcifications-1 (RILCBC1) 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) (Updated 05-Mar-2021)

MalaCards based summary : Rajab Interstitial Lung Disease with Brain Calcifications 1, also known as rajab interstitial lung disease with brain calcifications, is related to rajab interstitial lung disease with brain calcifications 2 and aicardi-goutieres syndrome, and has symptoms including headache An important gene associated with Rajab Interstitial Lung Disease with Brain Calcifications 1 is FARSB (Phenylalanyl-TRNA Synthetase Subunit Beta), and among its related pathways/superpathways is Aminoacyl-tRNA biosynthesis. Affiliated tissues include lung, brain and liver, and related phenotypes are scoliosis and cerebral calcification

KEGG : 36 Rajab interstitial lung disease with brain calcification (RILDBC) is severe growth restriction with combined brain, liver and lung involvement. Mutations in genes encoding phenylalanyl-tRNA synthetases cause this disease.

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 1

Diseases in the Rajab Interstitial Lung Disease with Brain Calcifications 1 family:

Rajab Interstitial Lung Disease with Brain Calcifications 2

Diseases related to Rajab Interstitial Lung Disease with Brain Calcifications 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 rajab interstitial lung disease with brain calcifications 2 11.0
2 aicardi-goutieres syndrome 10.3
3 microcephaly 10.3

Symptoms & Phenotypes for Rajab Interstitial Lung Disease with Brain Calcifications 1

Human phenotypes related to Rajab Interstitial Lung Disease with Brain Calcifications 1:

31 (show top 50) (show all 52)
# Description HPO Frequency HPO Source Accession
1 scoliosis 31 very rare (1%) HP:0002650
2 cerebral calcification 31 very rare (1%) HP:0002514
3 delayed skeletal maturation 31 very rare (1%) HP:0002750
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 specific learning disability 31 very rare (1%) HP:0001328
11 elevated hepatic transaminase 31 very rare (1%) HP:0002910
12 pectus excavatum 31 very rare (1%) HP:0000767
13 cirrhosis 31 very rare (1%) HP:0001394
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 dilatation of the cerebral artery 31 very rare (1%) HP:0004944
18 exercise intolerance 31 very rare (1%) HP:0003546
19 thin bony cortex 31 very rare (1%) HP:0002753
20 seizure 31 very rare (1%) HP:0001250
21 hypotonia 31 very rare (1%) HP:0001252
22 abnormal pulmonary interstitial morphology 31 very rare (1%) HP:0006530
23 failure to thrive 31 HP:0001508
24 high palate 31 HP:0000218
25 osteopenia 31 HP:0000938
26 respiratory insufficiency 31 HP:0002093
27 inguinal hernia 31 HP:0000023
28 gastroesophageal reflux 31 HP:0002020
29 vomiting 31 HP:0002013
30 rickets 31 HP:0002748
31 portal hypertension 31 HP:0001409
32 ascites 31 HP:0001541
33 hepatic steatosis 31 HP:0001397
34 joint laxity 31 HP:0001388
35 emphysema 31 HP:0002097
36 slender build 31 HP:0001533
37 deeply set eye 31 HP:0000490
38 low levels of vitamin d 31 HP:0100512
39 cough 31 HP:0012735
40 hypocalcemia 31 HP:0002901
41 cholestasis 31 HP:0001396
42 hypoalbuminemia 31 HP:0003073
43 low levels of vitamin a 31 HP:0004905
44 oligohydramnios 31 HP:0001562
45 feeding difficulties 31 HP:0011968
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®:

57 (Updated 05-Mar-2021)
Growth Other:
failure to thrive

Respiratory:
respiratory insufficiency
tachypnea
chronic cough

Growth Height:
short stature

Cardiovascular Vascular:
portal hypertension
pulmonary hypertension

Hematology:
anemia
pancytopenia
coagulation defects

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

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

Skeletal:
osteopenia
rickets
joint laxity

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
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 (Updated 05-Mar-2021)

UMLS symptoms related to Rajab Interstitial Lung Disease with Brain Calcifications 1:


headache

Drugs & Therapeutics for Rajab Interstitial Lung Disease with Brain Calcifications 1

Search Clinical Trials , NIH Clinical Center for Rajab Interstitial Lung Disease with Brain Calcifications 1

Genetic Tests for Rajab Interstitial Lung Disease with Brain Calcifications 1

Genetic tests related to Rajab Interstitial Lung Disease with Brain Calcifications 1:

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

Anatomical Context for Rajab Interstitial Lung Disease with Brain Calcifications 1

MalaCards organs/tissues related to Rajab Interstitial Lung Disease with Brain Calcifications 1:

40
Lung, Brain, Liver, Eye, Bone, Cortex

Publications for Rajab Interstitial Lung Disease with Brain Calcifications 1

Articles related to Rajab Interstitial Lung Disease with Brain Calcifications 1:

# Title Authors PMID Year
1
Recessive developmental delay, small stature, microcephaly and brain calcifications with locus on chromosome 2. 6 57 61
19161147 2009
2
Homozygosity for FARSB mutation leads to Phe-tRNA synthetase-related disease of growth restriction, brain calcification, and interstitial lung disease. 57 6
30014610 2018
3
Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational Function. 6 57
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 57
29573043 2018

Variations for Rajab Interstitial Lung Disease with Brain Calcifications 1

ClinVar genetic disease variations for Rajab Interstitial Lung Disease with Brain Calcifications 1:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FARSB NM_005687.5(FARSB):c.767C>T (p.Thr256Met) SNV Pathogenic 487455 rs753710639 2:223496342-223496342 2:222631623-222631623
2 FARSB NM_005687.5(FARSB):c.1486delinsAA (p.His496fs) Indel Pathogenic 487456 rs1553549333 2:223464779-223464779 2:222600060-222600060
3 FARSB NM_005687.5(FARSB):c.848+1G>A SNV Pathogenic 545501 rs777071414 2:223494831-223494831 2:222630112-222630112
4 FARSB NM_005687.5(FARSB):c.914G>A (p.Arg305Gln) SNV Pathogenic 545502 rs773579570 2:223489481-223489481 2:222624762-222624762
5 FARSB NM_005687.5(FARSB):c.1202G>A (p.Arg401Gln) SNV Pathogenic 545664 rs1553553086 2:223488418-223488418 2:222623699-222623699
6 FARSB NM_005687.5(FARSB):c.1381A>C (p.Thr461Pro) SNV Pathogenic 545642 rs1396171148 2:223478611-223478611 2:222613892-222613892
7 FARSB NM_005687.5(FARSB):c.755T>C (p.Phe252Ser) SNV Pathogenic 545694 rs1466642025 2:223496354-223496354 2:222631635-222631635
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 1:

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 1

Search GEO for disease gene expression data for Rajab Interstitial Lung Disease with Brain Calcifications 1.

Pathways for Rajab Interstitial Lung Disease with Brain Calcifications 1

Pathways related to Rajab Interstitial Lung Disease with Brain Calcifications 1 according to KEGG:

36
# Name Kegg Source Accession
1 Aminoacyl-tRNA biosynthesis hsa00970

GO Terms for Rajab Interstitial Lung Disease with Brain Calcifications 1

Sources for Rajab Interstitial Lung Disease with Brain Calcifications 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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