Træk
Dandy-Walker malformation
A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman's terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal.
Resumé
- Også kaldet
- Dandy-walker anomaly, Dandy-Walker cyst
ReferencegenomGRCh38hg38
Positioner på gen- og variantsider følger dette valg i denne browser.
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Bestil min Genome Test149 gener knyttet til Dandy-Walker malformation
Ændringer i disse gener forårsager sjældne tilstande, hvor Dandy-Walker malformation ses. De fleste med dette træk har ingen af disse tilstande, og et gen på denne liste siger intet om nogens eget genom.
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| ARID2AT-rich interaction domain 2 | Altid | I 2 tilstande |
| B4GALT1beta-1,4-galactosyltransferase 1 | Altid | I 2 tilstande |
| B9D2B9 domain containing 2 | Altid | I 2 tilstande |
| BLTP1bridge-like lipid transfer protein family member 1 | Altid | I 1 tilstand |
| COG8component of oligomeric golgi complex 8 | Altid | I 1 tilstand |
| FKRPfukutin related protein | Altid | I 3 tilstande |
| FKTNfukutin | Altid | I 2 tilstande |
| GTF3C3general transcription factor IIIC subunit 3 | Altid | I 1 tilstand |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Altid | I 1 tilstand |
| KIF5Akinesin family member 5A | Altid | I 1 tilstand |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Altid | I 3 tilstande |
| MAB21L1mab-21 like 1 | Altid | I 2 tilstande |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Altid | I 1 tilstand |
| POLR1ARNA polymerase I subunit A | Altid | I 1 tilstand |
| POMT1protein O-mannosyltransferase 1 | Altid | I 2 tilstande |
| POMT2protein O-mannosyltransferase 2 | Altid | I 2 tilstande |
| RNF113Aring finger protein 113A | Altid | I 1 tilstand |
| TBC1D32TBC1 domain family member 32 | Altid | I 1 tilstand |
| BUB1BUB1 mitotic checkpoint serine/threonine kinase | Meget ofte (80–99 %) | I 1 tilstand |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Meget ofte (80–99 %) | I 2 tilstande |
| BUB3BUB3 mitotic checkpoint protein | Meget ofte (80–99 %) | I 1 tilstand |
| CCDC22CCC complex scaffolding subunit CCDC22 | Meget ofte (80–99 %) | I 2 tilstande |
| CEP57centrosomal protein 57 | Meget ofte (80–99 %) | I 1 tilstand |
| DPYSL5dihydropyrimidinase like 5 | Meget ofte (80–99 %) | I 2 tilstande |
| NPHP3nephrocystin 3 | Meget ofte (80–99 %) | I 3 tilstande |
| TRIP13thyroid hormone receptor interactor 13 | Meget ofte (80–99 %) | I 1 tilstand |
| VPS35LVPS35 endosomal protein sorting factor like | Meget ofte (80–99 %) | I 1 tilstand |
| WASHC5WASH complex subunit 5 | Meget ofte (80–99 %) | I 2 tilstande |
| ZIC1Zic family zinc finger 1 | Meget ofte (80–99 %) | I 3 tilstande |
| ZIC4Zic family zinc finger 4 | Meget ofte (80–99 %) | I 1 tilstand |
| ARID1AAT-rich interaction domain 1A | Ofte (30–79 %) | I 2 tilstande |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Ofte (30–79 %) | I 3 tilstande |
| ATP6V1AATPase H+ transporting V1 subunit A | Ofte (30–79 %) | I 1 tilstand |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Ofte (30–79 %) | I 1 tilstand |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Ofte (30–79 %) | I 1 tilstand |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Ofte (30–79 %) | I 2 tilstande |
| C2CD3C2 domain containing 3 centriole elongation regulator | Ofte (30–79 %) | I 2 tilstande |
| CEP120centrosomal protein 120 | Ofte (30–79 %) | I 1 tilstand |
| COL4A1collagen type IV alpha 1 chain | Ofte (30–79 %) | I 1 tilstand |
| CRPPACDP-L-ribitol pyrophosphorylase A | Ofte (30–79 %) | I 2 tilstande |
Vis 109 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| DAG1dystroglycan 1 | Ofte (30–79 %) | I 1 tilstand |
| DENND5ADENN domain containing 5A | Ofte (30–79 %) | I 1 tilstand |
| DPH1diphthamide biosynthesis 1 | Ofte (30–79 %) | I 2 tilstande |
| DPH2diphthamide biosynthesis 2 | Ofte (30–79 %) | I 1 tilstand |
| EBPEBP cholestenol delta-isomerase | Ofte (30–79 %) | I 3 tilstande |
| EXOC3L2exocyst complex component 3 like 2 | Ofte (30–79 %) | I 1 tilstand |
| FAR1fatty acyl-CoA reductase 1 | Ofte (30–79 %) | I 2 tilstande |
| GLI3GLI family zinc finger 3 | Ofte (30–79 %) | I 1 tilstand |
| GTPBP2GTP binding protein 2 | Ofte (30–79 %) | I 1 tilstand |
| KIF7kinesin family member 7 | Ofte (30–79 %) | I 1 tilstand |
| PGAP2post-GPI attachment to proteins 2 | Ofte (30–79 %) | I 1 tilstand |
| PLGplasminogen | Ofte (30–79 %) | I 2 tilstande |
| POGZpogo transposable element derived with ZNF domain | Ofte (30–79 %) | I 1 tilstand |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Ofte (30–79 %) | I 1 tilstand |
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Ofte (30–79 %) | I 1 tilstand |
| POMKprotein O-mannose kinase | Ofte (30–79 %) | I 1 tilstand |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Ofte (30–79 %) | I 1 tilstand |
| RXYLT1ribitol xylosyltransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| SMG9SMG9 nonsense mediated mRNA decay factor | Ofte (30–79 %) | I 1 tilstand |
| TUBBtubulin beta class I | Ofte (30–79 %) | I 1 tilstand |
| USP9Xubiquitin specific peptidase 9 X-linked | Ofte (30–79 %) | I 2 tilstande |
| VPS51VPS51 subunit of GARP complex | Ofte (30–79 %) | I 1 tilstand |
| AFF3ALF transcription elongation factor 3 | Nogle gange (5–29 %) | I 1 tilstand |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ARID1BAT-rich interaction domain 1B | Nogle gange (5–29 %) | I 2 tilstande |
| ARMC9armadillo repeat containing 9 | Nogle gange (5–29 %) | I 1 tilstand |
| ASXL1ASXL transcriptional regulator 1 | Nogle gange (5–29 %) | I 2 tilstande |
| B9D1B9 domain containing 1 | Nogle gange (5–29 %) | I 1 tilstand |
| BCORBCL6 corepressor | Nogle gange (5–29 %) | I 1 tilstand |
| CC2D2Acoiled-coil and C2 domain containing 2A | Nogle gange (5–29 %) | I 1 tilstand |
| CDC42cell division cycle 42 | Nogle gange (5–29 %) | I 1 tilstand |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Nogle gange (5–29 %) | I 1 tilstand |
| CEP290centrosomal protein 290 | Nogle gange (5–29 %) | I 2 tilstande |
| CHD7chromodomain helicase DNA binding protein 7 | Nogle gange (5–29 %) | I 1 tilstand |
| CPT2carnitine palmitoyltransferase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| CSF1Rcolony stimulating factor 1 receptor | Nogle gange (5–29 %) | I 1 tilstand |
| CSPP1centrosome and spindle pole associated protein 1 | Nogle gange (5–29 %) | I 2 tilstande |
| DHCR77-dehydrocholesterol reductase | Nogle gange (5–29 %) | I 1 tilstand |
| DOK7docking protein 7 | Nogle gange (5–29 %) | I 1 tilstand |
| DPF2double PHD fingers 2 | Nogle gange (5–29 %) | I 1 tilstand |
| DYNC2H1dynein cytoplasmic 2 heavy chain 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DYNC2I1dynein 2 intermediate chain 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DYNC2I2dynein 2 intermediate chain 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| FTOFTO alpha-ketoglutarate dependent dioxygenase | Nogle gange (5–29 %) | I 1 tilstand |
| GLDNgliomedin | Nogle gange (5–29 %) | I 1 tilstand |
| GPC3glypican 3 | Nogle gange (5–29 %) | I 1 tilstand |
| GPC4glypican 4 | Nogle gange (5–29 %) | I 1 tilstand |
| HRASHRas proto-oncogene, GTPase | Nogle gange (5–29 %) | I 1 tilstand |
| IFT80intraflagellar transport 80 | Nogle gange (5–29 %) | I 1 tilstand |
| IGF2insulin like growth factor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| KCNQ1potassium voltage-gated channel subfamily Q member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| KCNQ1OT1KCNQ1 opposite strand/antisense transcript 1 | Nogle gange (5–29 %) | I 1 tilstand |
| KIAA0586KIAA0586 | Nogle gange (5–29 %) | I 1 tilstand |
| KIF21Akinesin family member 21A | Nogle gange (5–29 %) | I 1 tilstand |
| KRASKRas proto-oncogene, GTPase | Nogle gange (5–29 %) | I 1 tilstand |
| MAGEL2MAGE family member L2 | Nogle gange (5–29 %) | I 1 tilstand |
| MID1midline 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MKS1MKS transition zone complex subunit 1 | Nogle gange (5–29 %) | I 2 tilstande |
| MUSKmuscle associated receptor tyrosine kinase | Nogle gange (5–29 %) | I 1 tilstand |
| MYOD1myogenic differentiation 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NRASNRAS proto-oncogene, GTPase | Nogle gange (5–29 %) | I 2 tilstande |
| NUP88nucleoporin 88 | Nogle gange (5–29 %) | I 1 tilstand |
| OFD1OFD1 centriole and centriolar satellite protein | Nogle gange (5–29 %) | I 1 tilstand |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Nogle gange (5–29 %) | I 1 tilstand |
| PLCH1phospholipase C eta 1 | Nogle gange (5–29 %) | I 1 tilstand |
| RAPSNreceptor associated protein of the synapse | Nogle gange (5–29 %) | I 1 tilstand |
| RBMXRNA binding motif protein X-linked | Nogle gange (5–29 %) | I 1 tilstand |
| RPGRIP1RPGR interacting protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| RPGRIP1LRPGRIP1 like | Nogle gange (5–29 %) | I 1 tilstand |
| SEMA3Esemaphorin 3E | Nogle gange (5–29 %) | I 1 tilstand |
| SLC18A3solute carrier family 18 member A3 | Nogle gange (5–29 %) | I 1 tilstand |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Nogle gange (5–29 %) | I 2 tilstande |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Nogle gange (5–29 %) | I 1 tilstand |
| SMARCC2SWI/SNF related BAF chromatin remodeling complex subunit C2 | Nogle gange (5–29 %) | I 1 tilstand |
| SMARCD1SWI/SNF related BAF chromatin remodeling complex subunit D1 | Nogle gange (5–29 %) | I 1 tilstand |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Nogle gange (5–29 %) | I 2 tilstande |
| SOX11SRY-box transcription factor 11 | Nogle gange (5–29 %) | I 1 tilstand |
| SOX4SRY-box transcription factor 4 | Nogle gange (5–29 %) | I 1 tilstand |
| TBC1D24TBC1 domain family member 24 | Nogle gange (5–29 %) | I 2 tilstande |
| TCTN1tectonic family member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TCTN2tectonic family member 2 | Nogle gange (5–29 %) | I 1 tilstand |
| TCTN3tectonic family member 3 | Nogle gange (5–29 %) | I 1 tilstand |
| TMEM107transmembrane protein 107 | Nogle gange (5–29 %) | I 1 tilstand |
| TMEM138transmembrane protein 138 | Nogle gange (5–29 %) | I 1 tilstand |
| TMEM216transmembrane protein 216 | Nogle gange (5–29 %) | I 2 tilstande |
| TMEM231transmembrane protein 231 | Nogle gange (5–29 %) | I 1 tilstand |
| TMEM237transmembrane protein 237 | Nogle gange (5–29 %) | I 2 tilstande |
| TMEM67transmembrane protein 67 | Nogle gange (5–29 %) | I 2 tilstande |
| TUBA1Atubulin alpha 1a | Nogle gange (5–29 %) | I 1 tilstand |
| TXNDC15thioredoxin domain containing 15 | Nogle gange (5–29 %) | I 1 tilstand |
| WDR35WD repeat domain 35 | Nogle gange (5–29 %) | I 1 tilstand |
| WDR73WD repeat domain 73 | Nogle gange (5–29 %) | I 1 tilstand |
| WDR81WD repeat domain 81 | Nogle gange (5–29 %) | I 1 tilstand |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Sjældent (1–4%) | I 1 tilstand |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Sjældent (1–4%) | I 1 tilstand |
| DDX3XDEAD-box helicase 3 X-linked | Sjældent (1–4%) | I 1 tilstand |
| GJB2gap junction protein beta 2 | Sjældent (1–4%) | I 1 tilstand |
| GJB6gap junction protein beta 6 | Sjældent (1–4%) | I 1 tilstand |
| MTM1myotubularin 1 | Sjældent (1–4%) | I 1 tilstand |
| PMM2phosphomannomutase 2 | Sjældent (1–4%) | I 1 tilstand |
| SLC35A2solute carrier family 35 member A2 | Sjældent (1–4%) | I 1 tilstand |
| EVCEvC ciliary complex subunit 1 | Ikke registreret | I 1 tilstand |
| EVC2EvC ciliary complex subunit 2 | Ikke registreret | I 1 tilstand |
| FGFR1fibroblast growth factor receptor 1 | Ikke registreret | I 1 tilstand |
| FLVCR2FLVCR choline and putative heme transporter 2 | Ikke registreret | I 1 tilstand |
| HYLS1HYLS1 centriolar and ciliogenesis associated | Ikke registreret | I 1 tilstand |
| PHGDHphosphoglycerate dehydrogenase | Ikke registreret | I 1 tilstand |
| POLR3ARNA polymerase III subunit A | Ikke registreret | I 1 tilstand |
Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.
Bredere træk
Hvor oplysningerne kommer fra
- Human Phenotype Ontology, udgivelse 2026-09-01: egenskaben, dens navne, definition og de gener, der er knyttet til den. Læs mere på hpo.jax.org.
- Dataudgivelse 2026.10.16-c6eea6bf.
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