Rajab Interstitial Lung Disease with Brain Calcifications 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases Respiratory diseases Liver diseases

See all MalaCards categories (disease lists)

Orphanet: ⁵⁸

Rare neurological diseases

External Ids:

OMIM® ⁵⁷ 613658

OMIM Phenotypic Series ⁵⁷ PS613658

KEGG ³⁶ H02466

MeSH ⁴⁴ D065886

Orphanet ⁵⁸ ORPHA178506

MedGen ⁴¹ C3150910

SNOMED-CT via HPO ⁶⁸ 111266001 119247004 123983008 more

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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.

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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
1	rajab interstitial lung disease with brain calcifications 2	11.0
2	aicardi-goutieres syndrome	10.3
3	microcephaly	10.3

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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

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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

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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

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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

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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	Rajab A...Ross ME	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	Zadjali F...Al-Maawali A	30014610	2018
3	Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational Function. ⁶ ⁵⁷	Xu Z...Schimmel P	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	Antonellis A...Innis JW	29573043	2018

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Genes for Rajab Interstitial Lung Disease with Brain Calcifications 1

Genes related to Rajab Interstitial Lung Disease with Brain Calcifications 1 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	FARSB	Phenylalanyl-TRNA Synthetase Subunit Beta	Protein Coding	1650	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁹	29979980 29573043

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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

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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.

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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

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GO Terms for Rajab Interstitial Lung Disease with Brain Calcifications 1

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Sources for Rajab Interstitial Lung Disease with Brain Calcifications 1

¹ BioSystems

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³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

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²⁴ GeneHancer via GeneCards

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²⁷ GEO DataSets

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³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

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⁴⁴ MeSH

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⁵² NIH Clinical Center

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⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

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⁶¹ PubMed

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⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Rajab Interstitial Lung Disease with Brain Calcifications 1 (RILDBC1)

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

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

Characteristics:

Orphanet epidemiological data:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Rajab Interstitial Lung Disease with Brain Calcifications 1

Related Diseases for Rajab Interstitial Lung Disease with Brain Calcifications 1

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

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

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

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

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

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

Drugs & Therapeutics 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:

Anatomical Context for Rajab Interstitial Lung Disease with Brain Calcifications 1

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

Publications for Rajab Interstitial Lung Disease with Brain Calcifications 1

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

Genes for Rajab Interstitial Lung Disease with Brain Calcifications 1

Genes related to Rajab Interstitial Lung Disease with Brain Calcifications 1 (1 elite genes):

Variations for Rajab Interstitial Lung Disease with Brain Calcifications 1

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

UniProtKB/Swiss-Prot genetic disease variations for Rajab Interstitial Lung Disease with Brain Calcifications 1:

Expression 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:

GO Terms for Rajab Interstitial Lung Disease with Brain Calcifications 1

Sources for Rajab Interstitial Lung Disease with Brain Calcifications 1