MCID: GNT118
MIFTS: 10

Genetic Syndrome with a Dandy-Walker Malformation As Major Feature

Categories: Rare diseases

Aliases & Classifications for Genetic Syndrome with a Dandy-Walker Malformation As Major...

MalaCards integrated aliases for Genetic Syndrome with a Dandy-Walker Malformation As Major Feature:

Name: Genetic Syndrome with a Dandy-Walker Malformation As Major Feature 59 6

Classifications:



External Ids:

Orphanet 59 ORPHA269570

Summaries for Genetic Syndrome with a Dandy-Walker Malformation As Major...

MalaCards based summary : Genetic Syndrome with a Dandy-Walker Malformation As Major Feature is related to mental retardation, autosomal recessive 55 and hydrolethalus syndrome 1. An important gene associated with Genetic Syndrome with a Dandy-Walker Malformation As Major Feature is BRAF (B-Raf Proto-Oncogene, Serine/Threonine Kinase). Related phenotype is Decreased viability in esophageal squamous lineage.

Related Diseases for Genetic Syndrome with a Dandy-Walker Malformation As Major...

Diseases related to Genetic Syndrome with a Dandy-Walker Malformation As Major Feature via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 mental retardation, autosomal recessive 55 9.7 PUS3 HYLS1
2 hydrolethalus syndrome 1 9.5 PUS3 HYLS1
3 renal cell carcinoma, papillary, 1 9.4 SETD2 BRAF

Symptoms & Phenotypes for Genetic Syndrome with a Dandy-Walker Malformation As Major...

GenomeRNAi Phenotypes related to Genetic Syndrome with a Dandy-Walker Malformation As Major Feature according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability in esophageal squamous lineage GR00235-A 8.92 BRAF HYLS1 SETD2 TUBA1A

Drugs & Therapeutics for Genetic Syndrome with a Dandy-Walker Malformation As Major...

Search Clinical Trials , NIH Clinical Center for Genetic Syndrome with a Dandy-Walker Malformation As Major Feature

Genetic Tests for Genetic Syndrome with a Dandy-Walker Malformation As Major...

Anatomical Context for Genetic Syndrome with a Dandy-Walker Malformation As Major...

Publications for Genetic Syndrome with a Dandy-Walker Malformation As Major...

Variations for Genetic Syndrome with a Dandy-Walker Malformation As Major...

ClinVar genetic disease variations for Genetic Syndrome with a Dandy-Walker Malformation As Major Feature:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SETD2 NM_014159.6(SETD2): c.4997A> G (p.Tyr1666Cys) single nucleotide variant Pathogenic 3:47142966-47142966 3:47101476-47101476
2 BRAF NM_004333.6(BRAF): c.1600G> C (p.Gly534Arg) single nucleotide variant Pathogenic/Likely pathogenic rs180177041 7:140476806-140476806 7:140777006-140777006
3 TUBA1A NM_006009.4(TUBA1A): c.652G> A (p.Asp218Asn) single nucleotide variant Likely pathogenic rs1057517858 12:49579497-49579497 12:49185714-49185714
4 PUS3 NM_031307.4(PUS3): c.578G> A (p.Arg193Gln) single nucleotide variant Likely pathogenic 11:125765485-125765485 11:125895590-125895590
5 PUS3 NM_031307.4(PUS3): c.497G> A (p.Arg166Gln) single nucleotide variant Likely pathogenic 11:125765566-125765566 11:125895671-125895671

Expression for Genetic Syndrome with a Dandy-Walker Malformation As Major...

Search GEO for disease gene expression data for Genetic Syndrome with a Dandy-Walker Malformation As Major Feature.

Pathways for Genetic Syndrome with a Dandy-Walker Malformation As Major...

GO Terms for Genetic Syndrome with a Dandy-Walker Malformation As Major...

Cellular components related to Genetic Syndrome with a Dandy-Walker Malformation As Major Feature according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.02 TUBA1A SETD2 PUS3 HYLS1 BRAF

Sources for Genetic Syndrome with a Dandy-Walker Malformation As Major...

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73 UMLS via Orphanet
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