VCRL1
MCID: VRT014
MIFTS: 24
|
Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1 (VCRL1)
Categories:
Genetic diseases, Nephrological diseases
|
|
MalaCards integrated aliases for Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1:
Characteristics:OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
two unrelated patients (one iraqi and one lebanese) have been reported (last curated september 2017) one patient died before age 1 slightly variable phenotype HPO:31Classifications: |
OMIM :
56
VCRL1 is an autosomal recessive congenital malformation syndrome characterized by vertebral segmentation abnormalities, congenital cardiac defects, renal defects, and distal mild limb defects. Additional features are variable (summary by Shi et al., 2017).
(617660)
MalaCards based summary : Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1, also known as congenital nad deficiency disorder 1, is related to vertebral, cardiac, renal, and limb defects syndrome 2 and vertebral, cardiac, renal, and limb defects syndrome 3. An important gene associated with Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1 is HAAO (3-Hydroxyanthranilate 3,4-Dioxygenase). Affiliated tissues include heart and kidney, and related phenotypes are intellectual disability and global developmental delay UniProtKB/Swiss-Prot : 73 Vertebral, cardiac, renal, and limb defects syndrome 1: An autosomal recessive congenital malformation syndrome characterized by vertebral segmentation abnormalities, congenital cardiac defects, renal defects, and distal mild limb defects. |
Diseases in the Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1 family:
Diseases related to Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:
|
Human phenotypes related to Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1:31 (show all 20)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:617660 |
|
MalaCards organs/tissues related to Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1:40
Heart,
Kidney
|
Articles related to Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1:
|
ClinVar genetic disease variations for Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1:6
|
Search
GEO
for disease gene expression data for Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1.
|
|
|