BOR1
MCID: BRN131
MIFTS: 45
|
Branchiootorenal Syndrome 1 (BOR1)
Categories:
Ear diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases
|
|
MalaCards integrated aliases for Branchiootorenal Syndrome 1:
Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Miscellaneous:
variable expressivity incomplete penetrance genetic heterogeneity (bor2, ) onset of hearing loss ranges from childhood to young adulthood prevalence of 1 in 40,000 allelic disorder to branchiootic syndrome (bos1, ) and otofaciocervical syndrome
Inheritance:
autosomal dominant HPO:31
branchiootorenal syndrome 1:
Inheritance autosomal dominant inheritance heterogeneous Onset and clinical course variable expressivity incomplete penetrance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Nephrological diseases Ear diseases |
OMIM® :
57
Branchiootorenal syndrome is an autosomal dominant disorder characterized by sensorineural, conductive, or mixed hearing loss, structural defects of the outer, middle, and inner ear, branchial fistulas or cysts, and renal abnormalities ranging from mild hypoplasia to complete absence. Reduced penetrance and variable expressivity has been observed (Fraser et al., 1978).
(113650) (Updated 05-Mar-2021)
MalaCards based summary : Branchiootorenal Syndrome 1, also known as melnick-fraser syndrome, is related to branchiootorenal syndrome and branchiootorenal syndrome 2. An important gene associated with Branchiootorenal Syndrome 1 is EYA1 (EYA Transcriptional Coactivator And Phosphatase 1). Affiliated tissues include kidney, and related phenotypes are facial palsy and microtia Disease Ontology : 12 A branchiootorenal syndrome that has material basis in heterozygous mutation in EYA1 on chromosome 8q13.3. UniProtKB/Swiss-Prot : 73 Branchiootorenal syndrome 1: A syndrome characterized by branchial cleft fistulas or cysts, sensorineural and/or conductive hearing loss, pre-auricular pits, structural defects of the outer, middle or inner ear, and renal malformations. |
Human phenotypes related to Branchiootorenal Syndrome 1:31 (show all 34)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:113650 (Updated 05-Mar-2021) |
|
MalaCards organs/tissues related to Branchiootorenal Syndrome 1:40
Kidney
|
Articles related to Branchiootorenal Syndrome 1:(show top 50) (show all 94)
|
ClinVar genetic disease variations for Branchiootorenal Syndrome 1:6 (show top 50) (show all 73)
UniProtKB/Swiss-Prot genetic disease variations for Branchiootorenal Syndrome 1:73 (show all 12)
|
Search
GEO
for disease gene expression data for Branchiootorenal Syndrome 1.
|
Cellular components related to Branchiootorenal Syndrome 1 according to GeneCards Suite gene sharing:
Biological processes related to Branchiootorenal Syndrome 1 according to GeneCards Suite gene sharing:(show all 38)
Molecular functions related to Branchiootorenal Syndrome 1 according to GeneCards Suite gene sharing:
|
|