MCID: RJB002
MIFTS: 21

Rajab Interstitial Lung Disease with Brain Calcifications

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


External Ids:

OMIM 58 613658
Orphanet 60 ORPHA178506
MedGen 43 C3150910

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 eye, and related phenotypes are delayed skeletal maturation and microcephaly

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
# Description HPO Frequency HPO Source Accession
1 delayed skeletal maturation 33 HP:0002750
2 microcephaly 33 HP:0000252
3 short stature 33 HP:0004322
4 headache 33 HP:0002315

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, Eye

Publications for Rajab Interstitial Lung Disease with Brain Calcifications

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
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31 HGMD
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35 ICD10 via Orphanet
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45 MeSH
46 MESH via Orphanet
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50 NCI
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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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