Požymis
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.
Santrauka
- Taip pat vadinama
- Dandy-walker anomaly, Dandy-Walker cyst
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
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Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Dandy-Walker malformation. Dauguma žmonių, turinčių šį požymį, neturi nė vienos iš tų ligų, o šiame sąraše esantis genas nieko nesako apie kieno nors paties genomą.
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| ARID2AT-rich interaction domain 2 | Visada | 2 ligose |
| B4GALT1beta-1,4-galactosyltransferase 1 | Visada | 2 ligose |
| B9D2B9 domain containing 2 | Visada | 2 ligose |
| BLTP1bridge-like lipid transfer protein family member 1 | Visada | 1 ligoje |
| COG8component of oligomeric golgi complex 8 | Visada | 1 ligoje |
| FKRPfukutin related protein | Visada | 3 ligose |
| FKTNfukutin | Visada | 2 ligose |
| GTF3C3general transcription factor IIIC subunit 3 | Visada | 1 ligoje |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Visada | 1 ligoje |
| KIF5Akinesin family member 5A | Visada | 1 ligoje |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Visada | 3 ligose |
| MAB21L1mab-21 like 1 | Visada | 2 ligose |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Visada | 1 ligoje |
| POLR1ARNA polymerase I subunit A | Visada | 1 ligoje |
| POMT1protein O-mannosyltransferase 1 | Visada | 2 ligose |
| POMT2protein O-mannosyltransferase 2 | Visada | 2 ligose |
| RNF113Aring finger protein 113A | Visada | 1 ligoje |
| TBC1D32TBC1 domain family member 32 | Visada | 1 ligoje |
| BUB1BUB1 mitotic checkpoint serine/threonine kinase | Labai dažnai (80–99%) | 1 ligoje |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Labai dažnai (80–99%) | 2 ligose |
| BUB3BUB3 mitotic checkpoint protein | Labai dažnai (80–99%) | 1 ligoje |
| CCDC22CCC complex scaffolding subunit CCDC22 | Labai dažnai (80–99%) | 2 ligose |
| CEP57centrosomal protein 57 | Labai dažnai (80–99%) | 1 ligoje |
| DPYSL5dihydropyrimidinase like 5 | Labai dažnai (80–99%) | 2 ligose |
| NPHP3nephrocystin 3 | Labai dažnai (80–99%) | 3 ligose |
| TRIP13thyroid hormone receptor interactor 13 | Labai dažnai (80–99%) | 1 ligoje |
| VPS35LVPS35 endosomal protein sorting factor like | Labai dažnai (80–99%) | 1 ligoje |
| WASHC5WASH complex subunit 5 | Labai dažnai (80–99%) | 2 ligose |
| ZIC1Zic family zinc finger 1 | Labai dažnai (80–99%) | 3 ligose |
| ZIC4Zic family zinc finger 4 | Labai dažnai (80–99%) | 1 ligoje |
| ARID1AAT-rich interaction domain 1A | Dažnai (30–79%) | 2 ligose |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Dažnai (30–79%) | 3 ligose |
| ATP6V1AATPase H+ transporting V1 subunit A | Dažnai (30–79%) | 1 ligoje |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Dažnai (30–79%) | 1 ligoje |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Dažnai (30–79%) | 1 ligoje |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Dažnai (30–79%) | 2 ligose |
| C2CD3C2 domain containing 3 centriole elongation regulator | Dažnai (30–79%) | 2 ligose |
| CEP120centrosomal protein 120 | Dažnai (30–79%) | 1 ligoje |
| COL4A1collagen type IV alpha 1 chain | Dažnai (30–79%) | 1 ligoje |
| CRPPACDP-L-ribitol pyrophosphorylase A | Dažnai (30–79%) | 2 ligose |
Rodyti dar 109 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| DAG1dystroglycan 1 | Dažnai (30–79%) | 1 ligoje |
| DENND5ADENN domain containing 5A | Dažnai (30–79%) | 1 ligoje |
| DPH1diphthamide biosynthesis 1 | Dažnai (30–79%) | 2 ligose |
| DPH2diphthamide biosynthesis 2 | Dažnai (30–79%) | 1 ligoje |
| EBPEBP cholestenol delta-isomerase | Dažnai (30–79%) | 3 ligose |
| EXOC3L2exocyst complex component 3 like 2 | Dažnai (30–79%) | 1 ligoje |
| FAR1fatty acyl-CoA reductase 1 | Dažnai (30–79%) | 2 ligose |
| GLI3GLI family zinc finger 3 | Dažnai (30–79%) | 1 ligoje |
| GTPBP2GTP binding protein 2 | Dažnai (30–79%) | 1 ligoje |
| KIF7kinesin family member 7 | Dažnai (30–79%) | 1 ligoje |
| PGAP2post-GPI attachment to proteins 2 | Dažnai (30–79%) | 1 ligoje |
| PLGplasminogen | Dažnai (30–79%) | 2 ligose |
| POGZpogo transposable element derived with ZNF domain | Dažnai (30–79%) | 1 ligoje |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Dažnai (30–79%) | 1 ligoje |
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Dažnai (30–79%) | 1 ligoje |
| POMKprotein O-mannose kinase | Dažnai (30–79%) | 1 ligoje |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Dažnai (30–79%) | 1 ligoje |
| RXYLT1ribitol xylosyltransferase 1 | Dažnai (30–79%) | 1 ligoje |
| SMG9SMG9 nonsense mediated mRNA decay factor | Dažnai (30–79%) | 1 ligoje |
| TUBBtubulin beta class I | Dažnai (30–79%) | 1 ligoje |
| USP9Xubiquitin specific peptidase 9 X-linked | Dažnai (30–79%) | 2 ligose |
| VPS51VPS51 subunit of GARP complex | Dažnai (30–79%) | 1 ligoje |
| AFF3ALF transcription elongation factor 3 | Kartais (5–29%) | 1 ligoje |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Kartais (5–29%) | 1 ligoje |
| ARID1BAT-rich interaction domain 1B | Kartais (5–29%) | 2 ligose |
| ARMC9armadillo repeat containing 9 | Kartais (5–29%) | 1 ligoje |
| ASXL1ASXL transcriptional regulator 1 | Kartais (5–29%) | 2 ligose |
| B9D1B9 domain containing 1 | Kartais (5–29%) | 1 ligoje |
| BCORBCL6 corepressor | Kartais (5–29%) | 1 ligoje |
| CC2D2Acoiled-coil and C2 domain containing 2A | Kartais (5–29%) | 1 ligoje |
| CDC42cell division cycle 42 | Kartais (5–29%) | 1 ligoje |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Kartais (5–29%) | 1 ligoje |
| CEP290centrosomal protein 290 | Kartais (5–29%) | 2 ligose |
| CHD7chromodomain helicase DNA binding protein 7 | Kartais (5–29%) | 1 ligoje |
| CPT2carnitine palmitoyltransferase 2 | Kartais (5–29%) | 1 ligoje |
| CSF1Rcolony stimulating factor 1 receptor | Kartais (5–29%) | 1 ligoje |
| CSPP1centrosome and spindle pole associated protein 1 | Kartais (5–29%) | 2 ligose |
| DHCR77-dehydrocholesterol reductase | Kartais (5–29%) | 1 ligoje |
| DOK7docking protein 7 | Kartais (5–29%) | 1 ligoje |
| DPF2double PHD fingers 2 | Kartais (5–29%) | 1 ligoje |
| DYNC2H1dynein cytoplasmic 2 heavy chain 1 | Kartais (5–29%) | 1 ligoje |
| DYNC2I1dynein 2 intermediate chain 1 | Kartais (5–29%) | 1 ligoje |
| DYNC2I2dynein 2 intermediate chain 2 | Kartais (5–29%) | 1 ligoje |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Kartais (5–29%) | 1 ligoje |
| FTOFTO alpha-ketoglutarate dependent dioxygenase | Kartais (5–29%) | 1 ligoje |
| GLDNgliomedin | Kartais (5–29%) | 1 ligoje |
| GPC3glypican 3 | Kartais (5–29%) | 1 ligoje |
| GPC4glypican 4 | Kartais (5–29%) | 1 ligoje |
| HRASHRas proto-oncogene, GTPase | Kartais (5–29%) | 1 ligoje |
| IFT80intraflagellar transport 80 | Kartais (5–29%) | 1 ligoje |
| IGF2insulin like growth factor 2 | Kartais (5–29%) | 1 ligoje |
| KCNQ1potassium voltage-gated channel subfamily Q member 1 | Kartais (5–29%) | 1 ligoje |
| KCNQ1OT1KCNQ1 opposite strand/antisense transcript 1 | Kartais (5–29%) | 1 ligoje |
| KIAA0586KIAA0586 | Kartais (5–29%) | 1 ligoje |
| KIF21Akinesin family member 21A | Kartais (5–29%) | 1 ligoje |
| KRASKRas proto-oncogene, GTPase | Kartais (5–29%) | 1 ligoje |
| MAGEL2MAGE family member L2 | Kartais (5–29%) | 1 ligoje |
| MID1midline 1 | Kartais (5–29%) | 1 ligoje |
| MKS1MKS transition zone complex subunit 1 | Kartais (5–29%) | 2 ligose |
| MUSKmuscle associated receptor tyrosine kinase | Kartais (5–29%) | 1 ligoje |
| MYOD1myogenic differentiation 1 | Kartais (5–29%) | 1 ligoje |
| NRASNRAS proto-oncogene, GTPase | Kartais (5–29%) | 2 ligose |
| NUP88nucleoporin 88 | Kartais (5–29%) | 1 ligoje |
| OFD1OFD1 centriole and centriolar satellite protein | Kartais (5–29%) | 1 ligoje |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Kartais (5–29%) | 1 ligoje |
| PLCH1phospholipase C eta 1 | Kartais (5–29%) | 1 ligoje |
| RAPSNreceptor associated protein of the synapse | Kartais (5–29%) | 1 ligoje |
| RBMXRNA binding motif protein X-linked | Kartais (5–29%) | 1 ligoje |
| RPGRIP1RPGR interacting protein 1 | Kartais (5–29%) | 1 ligoje |
| RPGRIP1LRPGRIP1 like | Kartais (5–29%) | 1 ligoje |
| SEMA3Esemaphorin 3E | Kartais (5–29%) | 1 ligoje |
| SLC18A3solute carrier family 18 member A3 | Kartais (5–29%) | 1 ligoje |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Kartais (5–29%) | 2 ligose |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Kartais (5–29%) | 1 ligoje |
| SMARCC2SWI/SNF related BAF chromatin remodeling complex subunit C2 | Kartais (5–29%) | 1 ligoje |
| SMARCD1SWI/SNF related BAF chromatin remodeling complex subunit D1 | Kartais (5–29%) | 1 ligoje |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Kartais (5–29%) | 2 ligose |
| SOX11SRY-box transcription factor 11 | Kartais (5–29%) | 1 ligoje |
| SOX4SRY-box transcription factor 4 | Kartais (5–29%) | 1 ligoje |
| TBC1D24TBC1 domain family member 24 | Kartais (5–29%) | 2 ligose |
| TCTN1tectonic family member 1 | Kartais (5–29%) | 1 ligoje |
| TCTN2tectonic family member 2 | Kartais (5–29%) | 1 ligoje |
| TCTN3tectonic family member 3 | Kartais (5–29%) | 1 ligoje |
| TMEM107transmembrane protein 107 | Kartais (5–29%) | 1 ligoje |
| TMEM138transmembrane protein 138 | Kartais (5–29%) | 1 ligoje |
| TMEM216transmembrane protein 216 | Kartais (5–29%) | 2 ligose |
| TMEM231transmembrane protein 231 | Kartais (5–29%) | 1 ligoje |
| TMEM237transmembrane protein 237 | Kartais (5–29%) | 2 ligose |
| TMEM67transmembrane protein 67 | Kartais (5–29%) | 2 ligose |
| TUBA1Atubulin alpha 1a | Kartais (5–29%) | 1 ligoje |
| TXNDC15thioredoxin domain containing 15 | Kartais (5–29%) | 1 ligoje |
| WDR35WD repeat domain 35 | Kartais (5–29%) | 1 ligoje |
| WDR73WD repeat domain 73 | Kartais (5–29%) | 1 ligoje |
| WDR81WD repeat domain 81 | Kartais (5–29%) | 1 ligoje |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Retai (1–4 %) | 1 ligoje |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Retai (1–4 %) | 1 ligoje |
| DDX3XDEAD-box helicase 3 X-linked | Retai (1–4 %) | 1 ligoje |
| GJB2gap junction protein beta 2 | Retai (1–4 %) | 1 ligoje |
| GJB6gap junction protein beta 6 | Retai (1–4 %) | 1 ligoje |
| MTM1myotubularin 1 | Retai (1–4 %) | 1 ligoje |
| PMM2phosphomannomutase 2 | Retai (1–4 %) | 1 ligoje |
| SLC35A2solute carrier family 35 member A2 | Retai (1–4 %) | 1 ligoje |
| EVCEvC ciliary complex subunit 1 | Neužfiksuota | 1 ligoje |
| EVC2EvC ciliary complex subunit 2 | Neužfiksuota | 1 ligoje |
| FGFR1fibroblast growth factor receptor 1 | Neužfiksuota | 1 ligoje |
| FLVCR2FLVCR choline and putative heme transporter 2 | Neužfiksuota | 1 ligoje |
| HYLS1HYLS1 centriolar and ciliogenesis associated | Neužfiksuota | 1 ligoje |
| PHGDHphosphoglycerate dehydrogenase | Neužfiksuota | 1 ligoje |
| POLR3ARNA polymerase III subunit A | Neužfiksuota | 1 ligoje |
Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.
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- Žmogaus fenotipo ontologija, 2026-09-01 leidimas: požymis, jo pavadinimai, apibrėžimas ir su juo susiję genai. Daugiau sužinokite svetainėje hpo.jax.org.
- Duomenų leidimas 2026.10.16-c6eea6bf.
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