VCRL3
MCID: VRT017
MIFTS: 22
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Vertebral, Cardiac, Renal, and Limb Defects Syndrome 3 (VCRL3)
Categories:
Genetic diseases, Nephrological diseases
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MalaCards integrated aliases for Vertebral, Cardiac, Renal, and Limb Defects Syndrome 3:
Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive
Miscellaneous:
death in early infancy due to severe cardiac and renal anomalies HPO:31
vertebral, cardiac, renal, and limb defects syndrome 3:
Onset and clinical course death in infancy Inheritance autosomal recessive inheritance Classifications: |
OMIM® :
57
Vertebral, cardiac, renal, and limb defects syndrome-3 (VCRL3) is an autosomal recessive disorder characterized by severe cardiac and renal anomalies that are lethal in infancy, including hypoplastic or absent left ventricle, transposition of the great arteries, absent pulmonary trunk, and hypoplastic or absent kidneys. Patients also exhibit vertebral segmentation defects and shortening of the proximal long bones or micromelia (Szot et al., 2020).
For a discussion of genetic heterogeneity of VCRL, see VCRL1 (617660). (618845) (Updated 05-Mar-2021)
MalaCards based summary : Vertebral, Cardiac, Renal, and Limb Defects Syndrome 3, also known as vcrl3, is related to vertebral, cardiac, renal, and limb defects syndrome 1 and congenital vertebral-cardiac-renal anomalies syndrome. An important gene associated with Vertebral, Cardiac, Renal, and Limb Defects Syndrome 3 is NADSYN1 (NAD Synthetase 1). Affiliated tissues include bone, cortex and heart, and related phenotypes are bicuspid aortic valve and hypoplastic left heart UniProtKB/Swiss-Prot : 73 Vertebral, cardiac, renal, and limb defects syndrome 3: An autosomal recessive, lethal disorder characterized by severe cardiac and renal anomalies, including hypoplastic or absent left ventricle, transposition of the great arteries, absent pulmonary trunk, and hypoplastic or absent kidneys. Patients also exhibit vertebral segmentation defects and shortening of the proximal long bones or micromelia. Death occurs in early infancy. |
Diseases in the Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1 family:
Diseases related to Vertebral, Cardiac, Renal, and Limb Defects Syndrome 3 via text searches within MalaCards or GeneCards Suite gene sharing:
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Human phenotypes related to Vertebral, Cardiac, Renal, and Limb Defects Syndrome 3:31 (show all 13)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:618845 (Updated 05-Mar-2021) |
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MalaCards organs/tissues related to Vertebral, Cardiac, Renal, and Limb Defects Syndrome 3:40
Bone,
Cortex,
Heart
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Articles related to Vertebral, Cardiac, Renal, and Limb Defects Syndrome 3:
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ClinVar genetic disease variations for Vertebral, Cardiac, Renal, and Limb Defects Syndrome 3:6
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Search
GEO
for disease gene expression data for Vertebral, Cardiac, Renal, and Limb Defects Syndrome 3.
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