RILDBC2
MCID: RJB004
MIFTS: 20

Rajab Interstitial Lung Disease with Brain Calcifications 2 (RILDBC2)

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

Aliases & Classifications for Rajab Interstitial Lung Disease with Brain Calcifications 2

MalaCards integrated aliases for Rajab Interstitial Lung Disease with Brain Calcifications 2:

Name: Rajab Interstitial Lung Disease with Brain Calcifications 2 57 6
Rildbc2 57

Characteristics:

OMIM®:

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

Miscellaneous:
based on a report of 1 patient (last curated august 2020)


HPO:

31
rajab interstitial lung disease with brain calcifications 2:
Inheritance autosomal recessive inheritance
Onset and clinical course fetal onset


Classifications:



Summaries for Rajab Interstitial Lung Disease with Brain Calcifications 2

OMIM® : 57 Rajab interstitial lung disease with brain calcifications-2 (RILDBC2) is an autosomal recessive disorder characterized by growth delay, interstitial lung disease, liver disease, and abnormal brain MRI findings, including brain calcifications and periventricular cysts (Krenke et al., 2019). For a discussion of genetic heterogeneity of RILDBC, see RILDBC1 (613658). (619013) (Updated 05-Mar-2021)

MalaCards based summary : Rajab Interstitial Lung Disease with Brain Calcifications 2, is also known as rildbc2. An important gene associated with Rajab Interstitial Lung Disease with Brain Calcifications 2 is FARSA (Phenylalanyl-TRNA Synthetase Subunit Alpha). Affiliated tissues include brain, lung and eye, and related phenotypes are scoliosis and hypothyroidism

Related Diseases for Rajab Interstitial Lung Disease with Brain Calcifications 2

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

Rajab Interstitial Lung Disease with Brain Calcifications 2

Symptoms & Phenotypes for Rajab Interstitial Lung Disease with Brain Calcifications 2

Human phenotypes related to Rajab Interstitial Lung Disease with Brain Calcifications 2:

31 (show all 25)
# Description HPO Frequency HPO Source Accession
1 scoliosis 31 very rare (1%) HP:0002650
2 hypothyroidism 31 very rare (1%) HP:0000821
3 global developmental delay 31 very rare (1%) HP:0001263
4 microcephaly 31 very rare (1%) HP:0000252
5 short stature 31 very rare (1%) HP:0004322
6 feeding difficulties in infancy 31 very rare (1%) HP:0008872
7 decreased muscle mass 31 very rare (1%) HP:0003199
8 hypertriglyceridemia 31 very rare (1%) HP:0002155
9 hepatic steatosis 31 very rare (1%) HP:0001397
10 elevated hepatic transaminase 31 very rare (1%) HP:0002910
11 microcytic anemia 31 very rare (1%) HP:0001935
12 arachnodactyly 31 very rare (1%) HP:0001166
13 joint hypermobility 31 very rare (1%) HP:0001382
14 deeply set eye 31 very rare (1%) HP:0000490
15 cough 31 very rare (1%) HP:0012735
16 elfin facies 31 very rare (1%) HP:0004428
17 hypoalbuminemia 31 very rare (1%) HP:0003073
18 oligohydramnios 31 very rare (1%) HP:0001562
19 generalized hypotonia 31 very rare (1%) HP:0001290
20 hepatosplenomegaly 31 very rare (1%) HP:0001433
21 restrictive ventilatory defect 31 very rare (1%) HP:0002091
22 hypopituitarism 31 very rare (1%) HP:0040075
23 exercise intolerance 31 very rare (1%) HP:0003546
24 periventricular cysts 31 very rare (1%) HP:0007109
25 abnormal pulmonary interstitial morphology 31 very rare (1%) HP:0006530

Symptoms via clinical synopsis from OMIM®:

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

Endocrine Features:
hypothyroidism
hypopituitarism

Chest Ribs Sternum Clavicles And Scapulae:
pectus carinatum

Growth Height:
short stature

Genitourinary Internal Genitalia Male:
cryptorchidism

Skeletal:
joint laxity

Skeletal Hands:
arachnodactyly

Head And Neck Eyes:
deep-set eyes

Respiratory:
chronic cough

Skeletal Spine:
scoliosis

Muscle Soft Tissue:
inguinal hernia
hypotonia

Head And Neck Head:
microcephaly

Abdomen Gastrointestinal:
vomiting
poor feeding

Abdomen Liver:
hepatic steatosis
cholestasis
liver dysfunction

Respiratory Lung:
emphysema
interstitial lung disease
cholesterol crystal accumulation
cystic lesions
restrictive ventilatory pattern

Neurologic Central Nervous System:
periventricular cysts
developmental delay
intracranial calcifications

Growth Weight:
low body weight

Head And Neck Face:
elfin-like appearance

Clinical features from OMIM®:

619013 (Updated 05-Mar-2021)

Drugs & Therapeutics for Rajab Interstitial Lung Disease with Brain Calcifications 2

Search Clinical Trials , NIH Clinical Center for Rajab Interstitial Lung Disease with Brain Calcifications 2

Genetic Tests for Rajab Interstitial Lung Disease with Brain Calcifications 2

Anatomical Context for Rajab Interstitial Lung Disease with Brain Calcifications 2

MalaCards organs/tissues related to Rajab Interstitial Lung Disease with Brain Calcifications 2:

40
Brain, Lung, Eye, Liver

Publications for Rajab Interstitial Lung Disease with Brain Calcifications 2

Articles related to Rajab Interstitial Lung Disease with Brain Calcifications 2:

# Title Authors PMID Year
1
FARSA mutations mimic phenylalanyl-tRNA synthetase deficiency caused by FARSB defects. 57 6
31355908 2019

Variations for Rajab Interstitial Lung Disease with Brain Calcifications 2

ClinVar genetic disease variations for Rajab Interstitial Lung Disease with Brain Calcifications 2:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FARSA NM_004461.3(FARSA):c.766T>C (p.Phe256Leu) SNV Pathogenic 977639 19:13039231-13039231 19:12928417-12928417
2 FARSA NM_004461.3(FARSA):c.1230C>A (p.Asn410Lys) SNV Pathogenic 977640 19:13035306-13035306 19:12924492-12924492

Expression for Rajab Interstitial Lung Disease with Brain Calcifications 2

Search GEO for disease gene expression data for Rajab Interstitial Lung Disease with Brain Calcifications 2.

Pathways for Rajab Interstitial Lung Disease with Brain Calcifications 2

GO Terms for Rajab Interstitial Lung Disease with Brain Calcifications 2

Sources for Rajab Interstitial Lung Disease with Brain Calcifications 2

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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