Egenskap
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.
Sammendrag
- Også kalt
- Dandy-walker anomaly, Dandy-Walker cyst
ReferansegenomGRCh38hg38
Posisjoner på gen- og variantsidene følger dette valget i denne nettleseren.
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Få mitt Genome Test149 gener knyttet til Dandy-Walker malformation
Endringer i disse genene forårsaker sjeldne tilstander der Dandy-Walker malformation forekommer. De fleste med denne egenskapen har ingen av disse tilstandene, og et gen på denne listen sier ingenting om noens eget genom.
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| ARID2AT-rich interaction domain 2 | Alltid | I 2 tilstander |
| B4GALT1beta-1,4-galactosyltransferase 1 | Alltid | I 2 tilstander |
| B9D2B9 domain containing 2 | Alltid | I 2 tilstander |
| BLTP1bridge-like lipid transfer protein family member 1 | Alltid | I 1 tilstand |
| COG8component of oligomeric golgi complex 8 | Alltid | I 1 tilstand |
| FKRPfukutin related protein | Alltid | I 3 tilstander |
| FKTNfukutin | Alltid | I 2 tilstander |
| GTF3C3general transcription factor IIIC subunit 3 | Alltid | I 1 tilstand |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Alltid | I 1 tilstand |
| KIF5Akinesin family member 5A | Alltid | I 1 tilstand |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Alltid | I 3 tilstander |
| MAB21L1mab-21 like 1 | Alltid | I 2 tilstander |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Alltid | I 1 tilstand |
| POLR1ARNA polymerase I subunit A | Alltid | I 1 tilstand |
| POMT1protein O-mannosyltransferase 1 | Alltid | I 2 tilstander |
| POMT2protein O-mannosyltransferase 2 | Alltid | I 2 tilstander |
| RNF113Aring finger protein 113A | Alltid | I 1 tilstand |
| TBC1D32TBC1 domain family member 32 | Alltid | I 1 tilstand |
| BUB1BUB1 mitotic checkpoint serine/threonine kinase | Svært ofte (80–99 %) | I 1 tilstand |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Svært ofte (80–99 %) | I 2 tilstander |
| BUB3BUB3 mitotic checkpoint protein | Svært ofte (80–99 %) | I 1 tilstand |
| CCDC22CCC complex scaffolding subunit CCDC22 | Svært ofte (80–99 %) | I 2 tilstander |
| CEP57centrosomal protein 57 | Svært ofte (80–99 %) | I 1 tilstand |
| DPYSL5dihydropyrimidinase like 5 | Svært ofte (80–99 %) | I 2 tilstander |
| NPHP3nephrocystin 3 | Svært ofte (80–99 %) | I 3 tilstander |
| TRIP13thyroid hormone receptor interactor 13 | Svært ofte (80–99 %) | I 1 tilstand |
| VPS35LVPS35 endosomal protein sorting factor like | Svært ofte (80–99 %) | I 1 tilstand |
| WASHC5WASH complex subunit 5 | Svært ofte (80–99 %) | I 2 tilstander |
| ZIC1Zic family zinc finger 1 | Svært ofte (80–99 %) | I 3 tilstander |
| ZIC4Zic family zinc finger 4 | Svært ofte (80–99 %) | I 1 tilstand |
| ARID1AAT-rich interaction domain 1A | Ofte (30–79 %) | I 2 tilstander |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Ofte (30–79 %) | I 3 tilstander |
| 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 tilstander |
| C2CD3C2 domain containing 3 centriole elongation regulator | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
Vis 109 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| 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 tilstander |
| DPH2diphthamide biosynthesis 2 | Ofte (30–79 %) | I 1 tilstand |
| EBPEBP cholestenol delta-isomerase | Ofte (30–79 %) | I 3 tilstander |
| EXOC3L2exocyst complex component 3 like 2 | Ofte (30–79 %) | I 1 tilstand |
| FAR1fatty acyl-CoA reductase 1 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| VPS51VPS51 subunit of GARP complex | Ofte (30–79 %) | I 1 tilstand |
| AFF3ALF transcription elongation factor 3 | Noen ganger (5–29 %) | I 1 tilstand |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ARID1BAT-rich interaction domain 1B | Noen ganger (5–29 %) | I 2 tilstander |
| ARMC9armadillo repeat containing 9 | Noen ganger (5–29 %) | I 1 tilstand |
| ASXL1ASXL transcriptional regulator 1 | Noen ganger (5–29 %) | I 2 tilstander |
| B9D1B9 domain containing 1 | Noen ganger (5–29 %) | I 1 tilstand |
| BCORBCL6 corepressor | Noen ganger (5–29 %) | I 1 tilstand |
| CC2D2Acoiled-coil and C2 domain containing 2A | Noen ganger (5–29 %) | I 1 tilstand |
| CDC42cell division cycle 42 | Noen ganger (5–29 %) | I 1 tilstand |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Noen ganger (5–29 %) | I 1 tilstand |
| CEP290centrosomal protein 290 | Noen ganger (5–29 %) | I 2 tilstander |
| CHD7chromodomain helicase DNA binding protein 7 | Noen ganger (5–29 %) | I 1 tilstand |
| CPT2carnitine palmitoyltransferase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| CSF1Rcolony stimulating factor 1 receptor | Noen ganger (5–29 %) | I 1 tilstand |
| CSPP1centrosome and spindle pole associated protein 1 | Noen ganger (5–29 %) | I 2 tilstander |
| DHCR77-dehydrocholesterol reductase | Noen ganger (5–29 %) | I 1 tilstand |
| DOK7docking protein 7 | Noen ganger (5–29 %) | I 1 tilstand |
| DPF2double PHD fingers 2 | Noen ganger (5–29 %) | I 1 tilstand |
| DYNC2H1dynein cytoplasmic 2 heavy chain 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DYNC2I1dynein 2 intermediate chain 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DYNC2I2dynein 2 intermediate chain 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| FTOFTO alpha-ketoglutarate dependent dioxygenase | Noen ganger (5–29 %) | I 1 tilstand |
| GLDNgliomedin | Noen ganger (5–29 %) | I 1 tilstand |
| GPC3glypican 3 | Noen ganger (5–29 %) | I 1 tilstand |
| GPC4glypican 4 | Noen ganger (5–29 %) | I 1 tilstand |
| HRASHRas proto-oncogene, GTPase | Noen ganger (5–29 %) | I 1 tilstand |
| IFT80intraflagellar transport 80 | Noen ganger (5–29 %) | I 1 tilstand |
| IGF2insulin like growth factor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| KCNQ1potassium voltage-gated channel subfamily Q member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| KCNQ1OT1KCNQ1 opposite strand/antisense transcript 1 | Noen ganger (5–29 %) | I 1 tilstand |
| KIAA0586KIAA0586 | Noen ganger (5–29 %) | I 1 tilstand |
| KIF21Akinesin family member 21A | Noen ganger (5–29 %) | I 1 tilstand |
| KRASKRas proto-oncogene, GTPase | Noen ganger (5–29 %) | I 1 tilstand |
| MAGEL2MAGE family member L2 | Noen ganger (5–29 %) | I 1 tilstand |
| MID1midline 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MKS1MKS transition zone complex subunit 1 | Noen ganger (5–29 %) | I 2 tilstander |
| MUSKmuscle associated receptor tyrosine kinase | Noen ganger (5–29 %) | I 1 tilstand |
| MYOD1myogenic differentiation 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NRASNRAS proto-oncogene, GTPase | Noen ganger (5–29 %) | I 2 tilstander |
| NUP88nucleoporin 88 | Noen ganger (5–29 %) | I 1 tilstand |
| OFD1OFD1 centriole and centriolar satellite protein | Noen ganger (5–29 %) | I 1 tilstand |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Noen ganger (5–29 %) | I 1 tilstand |
| PLCH1phospholipase C eta 1 | Noen ganger (5–29 %) | I 1 tilstand |
| RAPSNreceptor associated protein of the synapse | Noen ganger (5–29 %) | I 1 tilstand |
| RBMXRNA binding motif protein X-linked | Noen ganger (5–29 %) | I 1 tilstand |
| RPGRIP1RPGR interacting protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| RPGRIP1LRPGRIP1 like | Noen ganger (5–29 %) | I 1 tilstand |
| SEMA3Esemaphorin 3E | Noen ganger (5–29 %) | I 1 tilstand |
| SLC18A3solute carrier family 18 member A3 | Noen ganger (5–29 %) | I 1 tilstand |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Noen ganger (5–29 %) | I 2 tilstander |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Noen ganger (5–29 %) | I 1 tilstand |
| SMARCC2SWI/SNF related BAF chromatin remodeling complex subunit C2 | Noen ganger (5–29 %) | I 1 tilstand |
| SMARCD1SWI/SNF related BAF chromatin remodeling complex subunit D1 | Noen ganger (5–29 %) | I 1 tilstand |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Noen ganger (5–29 %) | I 2 tilstander |
| SOX11SRY-box transcription factor 11 | Noen ganger (5–29 %) | I 1 tilstand |
| SOX4SRY-box transcription factor 4 | Noen ganger (5–29 %) | I 1 tilstand |
| TBC1D24TBC1 domain family member 24 | Noen ganger (5–29 %) | I 2 tilstander |
| TCTN1tectonic family member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TCTN2tectonic family member 2 | Noen ganger (5–29 %) | I 1 tilstand |
| TCTN3tectonic family member 3 | Noen ganger (5–29 %) | I 1 tilstand |
| TMEM107transmembrane protein 107 | Noen ganger (5–29 %) | I 1 tilstand |
| TMEM138transmembrane protein 138 | Noen ganger (5–29 %) | I 1 tilstand |
| TMEM216transmembrane protein 216 | Noen ganger (5–29 %) | I 2 tilstander |
| TMEM231transmembrane protein 231 | Noen ganger (5–29 %) | I 1 tilstand |
| TMEM237transmembrane protein 237 | Noen ganger (5–29 %) | I 2 tilstander |
| TMEM67transmembrane protein 67 | Noen ganger (5–29 %) | I 2 tilstander |
| TUBA1Atubulin alpha 1a | Noen ganger (5–29 %) | I 1 tilstand |
| TXNDC15thioredoxin domain containing 15 | Noen ganger (5–29 %) | I 1 tilstand |
| WDR35WD repeat domain 35 | Noen ganger (5–29 %) | I 1 tilstand |
| WDR73WD repeat domain 73 | Noen ganger (5–29 %) | I 1 tilstand |
| WDR81WD repeat domain 81 | Noen ganger (5–29 %) | I 1 tilstand |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Sjelden (1–4%) | I 1 tilstand |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Sjelden (1–4%) | I 1 tilstand |
| DDX3XDEAD-box helicase 3 X-linked | Sjelden (1–4%) | I 1 tilstand |
| GJB2gap junction protein beta 2 | Sjelden (1–4%) | I 1 tilstand |
| GJB6gap junction protein beta 6 | Sjelden (1–4%) | I 1 tilstand |
| MTM1myotubularin 1 | Sjelden (1–4%) | I 1 tilstand |
| PMM2phosphomannomutase 2 | Sjelden (1–4%) | I 1 tilstand |
| SLC35A2solute carrier family 35 member A2 | Sjelden (1–4%) | I 1 tilstand |
| EVCEvC ciliary complex subunit 1 | Ikke registrert | I 1 tilstand |
| EVC2EvC ciliary complex subunit 2 | Ikke registrert | I 1 tilstand |
| FGFR1fibroblast growth factor receptor 1 | Ikke registrert | I 1 tilstand |
| FLVCR2FLVCR choline and putative heme transporter 2 | Ikke registrert | I 1 tilstand |
| HYLS1HYLS1 centriolar and ciliogenesis associated | Ikke registrert | I 1 tilstand |
| PHGDHphosphoglycerate dehydrogenase | Ikke registrert | I 1 tilstand |
| POLR3ARNA polymerase III subunit A | Ikke registrert | I 1 tilstand |
Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.
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- Datautgave 2026.10.16-c6eea6bf.
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