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Cecha
Gray matter heterotopia
Heterotopia or neuronal heterotopia are macroscopic clusters of misplaced neurons (gray matter), most often situated along the ventricular walls or within the subcortical white matter.
Podsumowanie
- Znana także jako
- Gray matter heterotopias, Grey matter heterotopia, Grey matter heterotopias, Heterotopia, Heterotopias, Neuronal heterotopia
- Układ organizmu
- Abnormality of the nervous system
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Ta strona jako dane
Aby odczytać ją jako JSON, dodaj .json na końcu adresu strony lub zażądaj application/json.
library(jsonlite)
url <- "https://dantelabs.com/traits/gray-matter-heterotopia.json"
page <- fromJSON(url)
page$trait$nameGray matter heterotopiaHP:0002282
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Odczytaj geny powiązane z Gray matter heterotopia oraz resztę swojego genomu za pomocą jednego badania.
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Zamawiam Genome Test56 condition reports read genes linked to this trait
Dante Labs condition reports look at the genes behind groups of inherited conditions, read from one whole-genome test. Each page says which conditions and genes a report covers, how it is read and what it cannot tell you.
- Autosomal Recessive Primary MicrocephalyReads 15 of these genesANKLE2ASPMCDK5RAP2CEP135CEP152CITAbout this report →
- Congenital Muscular DystrophiesReads 9 of these genesB4GAT1FKRPGMPPBPOMGNT1POMKPOMT1About this report →
- MTOR Pathway Megalencephaly and Overgrowth DisordersReads 3 of these genesAKT3MTORPIK3CAAbout this report →
- Periventricular Nodular HeterotopiaReads 3 of these genesMAP1BNEDD4LFLNAAbout this report →
Show 52 more reports
- Lissencephaly Spectrum DisordersReads 6 of these genesACTBLAMB1TMTC3DCXPAFAH1B1TUBA1AAbout this report →
- Acromelic Frontonasal DysostosisReads 1 of these genesZSWIM6About this report →
- Alkuraya-Kucinskas SyndromeReads 1 of these genesBLTP1About this report →
- Au-Kline SyndromeReads 1 of these genesHNRNPKAbout this report →
- Chudley-McCullough SyndromeReads 1 of these genesGPSM2About this report →
- EML1-Related Band HeterotopiaReads 1 of these genesEML1About this report →
- FAT4-Related Neurodevelopmental DisorderReads 1 of these genesFAT4About this report →
- FGFR3-Related Chondrodysplasias (Achondroplasia and Related Conditions)Reads 1 of these genesFGFR3About this report →
- MCPH1-Related Primary MicrocephalyReads 1 of these genesMCPH1About this report →
- OFD1-Related CiliopathyReads 1 of these genesOFD1About this report →
- Radio-Tartaglia SyndromeReads 1 of these genesSPENAbout this report →
- RNU4ATAC Spectrum DisorderReads 1 of these genesRNU4ATACAbout this report →
- Vici SyndromeReads 1 of these genesEPG5About this report →
- Lynch SyndromeReads 2 of these genesMLH1PMS2About this report →
- Congenital Disorders of GlycosylationReads 8 of these genesFKRPGMPPBPOMGNT1POMT1POMT2ALG11About this report →
- Complex Cortical Dysplasia and Frontoparietal PolymicrogyriaReads 3 of these genesTUBB2BKIF2ATUBA1AAbout this report →
- Cowden Syndrome (PTEN hamartoma tumour syndrome)Reads 1 of these genesAKT1About this report →
- Fontaine Progeroid SyndromeReads 1 of these genesSLC25A24About this report →
- Limb-Girdle Muscular DystrophyReads 4 of these genesFKRPGMPPBPOMGNT1FKTNAbout this report →
- Meckel SyndromeReads 2 of these genesKIF14TMEM107About this report →
- Immuno-Osseous DysplasiasReads 1 of these genesRNU4ATACAbout this report →
- Monogenic Early-Onset OsteoporosisReads 1 of these genesCOPB2About this report →
- Zellweger Spectrum & Peroxisome Biogenesis DisordersReads 2 of these genesPEX14PEX1About this report →
- TubulinopathiesReads 1 of these genesTUBA1AAbout this report →
- Joubert Syndrome And Related DisordersReads 3 of these genesARMC9OFD1TMEM107About this report →
- Hereditary Visceral Myopathy, CIPO & MMIHSReads 1 of these genesFLNAAbout this report →
- Intellectual DisabilityReads 6 of these genesMETTL5TAF13TCP1ASXL1KANSL1MED12About this report →
- Congenital Cranial Dysinnervation DisordersReads 1 of these genesTUBA1AAbout this report →
- GlomerulosclerosisReads 1 of these genesCRB2About this report →
- Inherited ThrombocytopeniasReads 2 of these genesACTBRAP1BAbout this report →
- Other Inherited LeukodystrophiesReads 3 of these genesPEX14PYCR2PEX1About this report →
- Complex Neurodevelopmental Disorder With Motor FeaturesReads 1 of these genesADD3About this report →
- Focal Segmental GlomerulosclerosisReads 1 of these genesCRB2About this report →
- DNA Repair DiseaseReads 2 of these genesMLH1PMS2About this report →
- Type I InterferonopathiesReads 1 of these genesUSP18About this report →
- Inherited Congenital Heart DefectsReads 1 of these genesFLNAAbout this report →
- Rare Hereditary Peripheral NeuropathiesReads 4 of these genesPEX14SARS1WARS1PEX1About this report →
- Primary Lymphoedema & Lymphatic MalformationsReads 1 of these genesFAT4About this report →
- Retinitis PigmentosaReads 2 of these genesPOMGNT1OFD1About this report →
- Syndromic Complex Neurodevelopmental DisorderReads 1 of these genesRNU4-2About this report →
- Syndromic CraniosynostosisReads 1 of these genesFGFR3About this report →
- Inherited Neurodegenerative DisordersReads 4 of these genesPEX14PYCR2WARS1PEX1About this report →
- Pelizaeus-Merzbacher Disease & Hypomyelinating LeukodystrophiesReads 1 of these genesPYCR2About this report →
- Non-Acquired Combined Pituitary Hormone DeficiencyReads 1 of these genesPLCH1About this report →
- Congenital Myasthenic SyndromeReads 1 of these genesGMPPBAbout this report →
- Spinal Muscular AtrophyReads 1 of these genesWARS1About this report →
- Rare Monogenic Autoinflammatory DiseasesReads 1 of these genesUSP18About this report →
- Dystonia, Myotonia, Paroxysmal DyskinesiaReads 1 of these genesACTBAbout this report →
- Epilepsy (Full Panel)Reads 2 of these genesRNU2-2FLNAAbout this report →
- Dilated CardiomyopathyReads 1 of these genesFKTNAbout this report →
- Charcot-Marie-Tooth DiseaseReads 1 of these genesWARS1About this report →
- Hearing Loss and DeafnessReads 1 of these genesMAP1BAbout this report →
Odczytaj geny powiązane z Gray matter heterotopia oraz resztę swojego genomu za pomocą jednego badania.
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Zamawiam Genome Test97 genów powiązanych z Gray matter heterotopia
Zmiany w tych genach powodują rzadkie choroby, w których występuje Gray matter heterotopia. Większość osób z tą cechą nie ma żadnej z tych chorób, a gen z tej listy nic nie mówi o czyimkolwiek własnym genomie.
| Gen | Jak często występuje | Choroby |
|---|---|---|
| ACTBactin beta | Zawsze | W 1 chorobie |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Zawsze | W 1 chorobie |
| EML1EMAP like 1 | Zawsze | W 1 chorobie |
| GPSM2G protein signaling modulator 2 | Zawsze | W 2 chorobach |
| MAP1Bmicrotubule associated protein 1B | Zawsze | W 1 chorobie |
| NEDD4LNEDD4 like E3 ubiquitin protein ligase | Zawsze | W 1 chorobie |
| PEX14peroxisomal biogenesis factor 14 | Zawsze | W 1 chorobie |
| RAP1BRAP1B, member of RAS oncogene family | Zawsze | W 1 chorobie |
| RNU4-2RNA, U4 small nuclear 2 | Zawsze | W 1 chorobie |
| WSB2WD repeat and SOCS box containing 2 | Zawsze | W 1 chorobie |
| ANKLE2ankyrin repeat and LEM domain containing 2 | Bardzo często (80–99%) | W 1 chorobie |
| ASPMassembly factor for spindle microtubules | Bardzo często (80–99%) | W 1 chorobie |
| CDK5RAP2CDK5 regulatory subunit associated protein 2 | Bardzo często (80–99%) | W 1 chorobie |
| CDK6cyclin dependent kinase 6 | Bardzo często (80–99%) | W 1 chorobie |
| CENPEcentromere protein E | Bardzo często (80–99%) | W 1 chorobie |
| CEP135centrosomal protein 135 | Bardzo często (80–99%) | W 1 chorobie |
| CEP152centrosomal protein 152 | Bardzo często (80–99%) | W 1 chorobie |
| CITcitron rho-interacting serine/threonine kinase | Bardzo często (80–99%) | W 1 chorobie |
| COPB2coat protein complex I subunit beta 2 | Bardzo często (80–99%) | W 1 chorobie |
| CPAPcentrosome assembly and centriole elongation protein | Bardzo często (80–99%) | W 1 chorobie |
| ERMARDER membrane associated RNA degradation | Bardzo często (80–99%) | W 1 chorobie |
| KIF14kinesin family member 14 | Bardzo często (80–99%) | W 1 chorobie |
| KNL1kinetochore scaffold 1 | Bardzo często (80–99%) | W 1 chorobie |
| MCM7minichromosome maintenance complex component 7 | Bardzo często (80–99%) | W 1 chorobie |
| MCPH1microcephalin 1 | Bardzo często (80–99%) | W 1 chorobie |
| METTL5methyltransferase 5, N6-adenosine | Bardzo często (80–99%) | W 1 chorobie |
| MFSD2AMFSD2 lysolipid transporter A, lysophospholipid | Bardzo często (80–99%) | W 1 chorobie |
| NCAPD3non-SMC condensin II complex subunit D3 | Bardzo często (80–99%) | W 1 chorobie |
| NUP37nucleoporin 37 | Bardzo często (80–99%) | W 1 chorobie |
| PDCD6IPprogrammed cell death 6 interacting protein | Bardzo często (80–99%) | W 1 chorobie |
| PHC1polyhomeotic homolog 1 | Bardzo często (80–99%) | W 1 chorobie |
| PYCR2pyrroline-5-carboxylate reductase 2 | Bardzo często (80–99%) | W 1 chorobie |
| SARS1seryl-tRNA synthetase 1 | Bardzo często (80–99%) | W 1 chorobie |
| SASS6SAS-6 centriolar assembly protein | Bardzo często (80–99%) | W 1 chorobie |
| STILSTIL centriolar assembly protein | Bardzo często (80–99%) | W 1 chorobie |
| TAF13TATA-box binding protein associated factor 13 | Bardzo często (80–99%) | W 1 chorobie |
| TRAPPC10trafficking protein particle complex subunit 10 | Bardzo często (80–99%) | W 1 chorobie |
| TRAPPC14trafficking protein particle complex subunit 14 | Bardzo często (80–99%) | W 1 chorobie |
| WARS1tryptophanyl-tRNA synthetase 1 | Bardzo często (80–99%) | W 1 chorobie |
| WDR62WD repeat domain 62 | Bardzo często (80–99%) | W 2 chorobach |
Pokaż jeszcze 57 genów
| Gen | Jak często występuje | Choroby |
|---|---|---|
| EPG5ectopic P-granules 5 autophagy tethering factor | Często (30–79%) | W 2 chorobach |
| FKRPfukutin related protein | Często (30–79%) | W 2 chorobach |
| GGT1gamma-glutamyltransferase 1 | Często (30–79%) | W 1 chorobie |
| GMPPBGDP-mannose pyrophosphorylase B | Często (30–79%) | W 1 chorobie |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Często (30–79%) | W 2 chorobach |
| LAMB1laminin subunit beta 1 | Często (30–79%) | W 2 chorobach |
| MAN2C1mannosidase alpha class 2C member 1 | Często (30–79%) | W 1 chorobie |
| MLH1mutL homolog 1 | Często (30–79%) | W 1 chorobie |
| PMS2PMS1 homolog 2, mismatch repair system component | Często (30–79%) | W 1 chorobie |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Często (30–79%) | W 1 chorobie |
| POMKprotein O-mannose kinase | Często (30–79%) | W 1 chorobie |
| POMT1protein O-mannosyltransferase 1 | Często (30–79%) | W 2 chorobach |
| POMT2protein O-mannosyltransferase 2 | Często (30–79%) | W 1 chorobie |
| SLC4A10solute carrier family 4 member 10 | Często (30–79%) | W 1 chorobie |
| TCP1t-complex 1 | Często (30–79%) | W 1 chorobie |
| TMTC3transmembrane O-mannosyltransferase targeting cadherins 3 | Często (30–79%) | W 1 chorobie |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Często (30–79%) | W 1 chorobie |
| ADD3adducin 3 | Czasami (5–29%) | W 1 chorobie |
| AKT1AKT serine/threonine kinase 1 | Czasami (5–29%) | W 1 chorobie |
| AKT3AKT serine/threonine kinase 3 | Czasami (5–29%) | W 1 chorobie |
| ALG11ALG11 alpha-1,2-mannosyltransferase | Czasami (5–29%) | W 1 chorobie |
| ARMC9armadillo repeat containing 9 | Czasami (5–29%) | W 1 chorobie |
| CRB2crumbs cell polarity complex component 2 | Czasami (5–29%) | W 1 chorobie |
| DCHS1dachsous cadherin-related 1 | Czasami (5–29%) | W 2 chorobach |
| FAT4FAT atypical cadherin 4 | Czasami (5–29%) | W 2 chorobach |
| FGFR3fibroblast growth factor receptor 3 | Czasami (5–29%) | W 2 chorobach |
| LMBRD2LMBR1 domain containing 2 | Czasami (5–29%) | W 1 chorobie |
| MTORmechanistic target of rapamycin kinase | Czasami (5–29%) | W 1 chorobie |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Czasami (5–29%) | W 1 chorobie |
| PLCH1phospholipase C eta 1 | Czasami (5–29%) | W 1 chorobie |
| PPFIBP1PPFIB scaffold protein 1 | Czasami (5–29%) | W 1 chorobie |
| PPP1R12Aprotein phosphatase 1 regulatory subunit 12A | Czasami (5–29%) | W 1 chorobie |
| RALGAPA1Ral GTPase activating protein catalytic subunit alpha 1 | Czasami (5–29%) | W 1 chorobie |
| RNU2-2RNA, U2 small nuclear 2 | Czasami (5–29%) | W 1 chorobie |
| RNU4ATACRNA, U4atac small nuclear | Czasami (5–29%) | W 1 chorobie |
| SPENspen family transcriptional repressor | Czasami (5–29%) | W 1 chorobie |
| TUBB2Btubulin beta 2B class IIb | Czasami (5–29%) | W 1 chorobie |
| CRPPACDP-L-ribitol pyrophosphorylase A | Rzadko (1–4%) | W 2 chorobach |
| FKTNfukutin | Rzadko (1–4%) | W 1 chorobie |
| ASXL1ASXL transcriptional regulator 1 | Nie odnotowano | W 1 chorobie |
| BLTP1bridge-like lipid transfer protein family member 1 | Nie odnotowano | W 1 chorobie |
| DCXdoublecortin | Nie odnotowano | W 1 chorobie |
| FLNAfilamin A | Nie odnotowano | W 1 chorobie |
| HYLS1HYLS1 centriolar and ciliogenesis associated | Nie odnotowano | W 1 chorobie |
| KANSL1KAT8 regulatory NSL complex subunit 1 | Nie odnotowano | W 1 chorobie |
| KIF2Akinesin family member 2A | Nie odnotowano | W 1 chorobie |
| LAMA1laminin subunit alpha 1 | Nie odnotowano | W 1 chorobie |
| MED12mediator complex subunit 12 | Nie odnotowano | W 1 chorobie |
| MPDZmultiple PDZ domain crumbs cell polarity complex component | Nie odnotowano | W 1 chorobie |
| OFD1OFD1 centriole and centriolar satellite protein | Nie odnotowano | W 1 chorobie |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Nie odnotowano | W 1 chorobie |
| PEX1peroxisomal biogenesis factor 1 | Nie odnotowano | W 1 chorobie |
| SLC25A24solute carrier family 25 member 24 | Nie odnotowano | W 1 chorobie |
| TMEM107transmembrane protein 107 | Nie odnotowano | W 1 chorobie |
| TUBA1Atubulin alpha 1a | Nie odnotowano | W 1 chorobie |
| USP18ubiquitin specific peptidase 18 | Nie odnotowano | W 1 chorobie |
| ZSWIM6zinc finger SWIM-type containing 6 | Nie odnotowano | W 1 chorobie |
Jak często występuje wśród osób z jedną z chorób związanych z tym genem, najczęściej spośród wszystkich, według danych Human Phenotype Ontology. Te strony opisują cechy i badania, na których się opierają; nie są diagnozą, a w sprawie objawów należy zwrócić się do lekarza lub doradcy genetycznego.
Cechy podrzędne
Cechy nadrzędne
Skąd pochodzą te dane
- Human Phenotype Ontology, wydanie 2026-09-01: cecha, jej nazwy, definicja oraz geny z nią powiązane. Więcej informacji znajdą Państwo na stronie hpo.jax.org.
- Wydanie danych 2026.10.19-9814e911.
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