GADEVS
MCID: GBR007
MIFTS: 34
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Gabriele-De Vries Syndrome (GADEVS)
Categories:
Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Gabriele-De Vries Syndrome:
Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant
Miscellaneous:
highly variable phenotype de novo mutation additional variable congenital abnormalities may occur HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Neuronal diseases
Orphanet: 58
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OMIM® :
57
Gabriele-de Vries syndrome is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, variable cognitive impairment, often with behavioral problems, feeding problems, some movement abnormalities, and dysmorphic facial features. Affected individuals may also have a variety of congenital abnormalities (summary by Gabriele et al., 2017). (617557) (Updated 05-Mar-2021)
MalaCards based summary : Gabriele-De Vries Syndrome, also known as gadevs, is related to alacrima, achalasia, and mental retardation syndrome and gastroesophageal reflux. An important gene associated with Gabriele-De Vries Syndrome is YY1 (YY1 Transcription Factor). Affiliated tissues include breast and brain, and related phenotypes are thick lower lip vermilion and malar flattening KEGG : 36 Gabriele-de Vries syndrome (GADEVS) is an intellectual disability syndrome caused by mutations in YY1. YY1 encodes a multi-functional transcription factor involved in many regulatory processes. UniProtKB/Swiss-Prot : 73 Gabriele-de Vries syndrome: An autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development and intellectual disability. Most patients have behavioral and feeding problems, movement abnormalities, mild distal skeletal anomalies, and dysmorphic facial features.
GeneReviews:
NBK541730
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Human phenotypes related to Gabriele-De Vries Syndrome:58 31 (show top 50) (show all 79)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:617557 (Updated 05-Mar-2021)GenomeRNAi Phenotypes related to Gabriele-De Vries Syndrome according to GeneCards Suite gene sharing:26
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MalaCards organs/tissues related to Gabriele-De Vries Syndrome:40
Breast,
Brain
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Articles related to Gabriele-De Vries Syndrome:(show all 24)
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ClinVar genetic disease variations for Gabriele-De Vries Syndrome:6
UniProtKB/Swiss-Prot genetic disease variations for Gabriele-De Vries Syndrome:73
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Search
GEO
for disease gene expression data for Gabriele-De Vries Syndrome.
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