MCID: GNT118
MIFTS: 11

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 58 6

Classifications:



External Ids:

Orphanet 58 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), and among its related pathways/superpathways is Development Slit-Robo signaling. Related phenotypes are Decreased viability in esophageal squamous lineage and limbs/digits/tail

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 9.7 PUS3 HYLS1
3 renal cell carcinoma, papillary, 1 9.2 SETD2 BRAF
4 syndrome with a dandy-walker malformation as major feature 8.3 TUBA1A SETD2 PUS3 HYLS1 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

MGI Mouse Phenotypes related to Genetic Syndrome with a Dandy-Walker Malformation As Major Feature:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 8.8 BRAF HYLS1 SETD2

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 Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SETD2 NM_014159.6(SETD2):c.4997A>G (p.Tyr1666Cys)SNV Pathogenic 632591 rs1559720382 3:47142966-47142966 3:47101476-47101476
2 BRAF NM_004333.6(BRAF):c.1600G>C (p.Gly534Arg)SNV Pathogenic/Likely pathogenic 13980 rs180177041 7:140476806-140476806 7:140777006-140777006
3 TUBA1A NM_006009.4(TUBA1A):c.652G>A (p.Asp218Asn)SNV Likely pathogenic 372561 rs1057517858 12:49579497-49579497 12:49185714-49185714
4 PUS3 NM_031307.4(PUS3):c.578G>A (p.Arg193Gln)SNV Likely pathogenic 632593 rs576405108 11:125765485-125765485 11:125895590-125895590
5 PUS3 NM_031307.4(PUS3):c.497G>A (p.Arg166Gln)SNV Likely pathogenic 632594 rs200876642 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...

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.03 TUBA1A BRAF

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

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....