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
|
|
MalaCards integrated aliases for Rajab Interstitial Lung Disease with Brain Calcifications 1:
Name: Rajab Interstitial Lung Disease with Brain Calcifications 1
57
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
Orphanet: 58
![]() |
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. |
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:
|
Human phenotypes related to Rajab Interstitial Lung Disease with Brain Calcifications 1:31 (show top 50) (show all 52)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:613658 (Updated 05-Mar-2021)UMLS symptoms related to Rajab Interstitial Lung Disease with Brain Calcifications 1:headache |
|
MalaCards organs/tissues related to Rajab Interstitial Lung Disease with Brain Calcifications 1:40
Lung,
Brain,
Liver,
Eye,
Bone,
Cortex
|
Articles related to Rajab Interstitial Lung Disease with Brain Calcifications 1:
|
ClinVar genetic disease variations for Rajab Interstitial Lung Disease with Brain Calcifications 1:6
UniProtKB/Swiss-Prot genetic disease variations for Rajab Interstitial Lung Disease with Brain Calcifications 1:73
|
Search
GEO
for disease gene expression data for Rajab Interstitial Lung Disease with Brain Calcifications 1.
|
Pathways related to Rajab Interstitial Lung Disease with Brain Calcifications 1 according to KEGG:36
|
|
|