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Požymis
Holoprosencephaly
Holoprosencephaly is a structural anomaly of the brain in which the developing forebrain fails to divide into two separate hemispheres and ventricles.
Santrauka
- Taip pat vadinama
- Single brain ventricle
- Kūno sistema
- Abnormality of the nervous system
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PrisijungtiKlaustiSekvenuokite savo genomą↗
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Ši puslapis kaip duomenys
Norėdami perskaityti jį kaip JSON, pridėkite .json prie puslapio adreso arba nurodykite application/json.
library(jsonlite)
url <- "https://dantelabs.com/traits/holoprosencephaly.json"
page <- fromJSON(url)
page$trait$nameHoloprosencephalyHP:0001360
AtlasKam mes padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
Vienu tyrimu sužinokite genus, susijusius su Holoprosencephaly, ir kitą jūsų genomo dalį.
Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites
Įsigyti savo Genome Test32 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.
- Non-Acquired Combined Pituitary Hormone DeficiencyReads 17 of these genesOTX2CNOT1PLCH1PTCH1SHHCDONAbout this report →
- Congenital Muscular DystrophiesReads 9 of these genesB3GALNT2CRPPAFKRPFKTNGMPPBLARGE1About this report →
- Nevoid Basal Cell Carcinoma (Gorlin) SyndromeReads 2 of these genesPTCH1SUFUAbout this report →
- Mosaic Variegated Aneuploidy SyndromeReads 3 of these genesBUB1BCEP57TRIP13About this report →
Show 28 more reports
- Hypogonadotropic HypogonadismReads 9 of these genesOTX2CHD7FGF8FGFR1FOXA2HESX1About this report →
- CHARGE SyndromeReads 1 of these genesCHD7About this report →
- DLL1-Related Neurodevelopmental DisorderReads 1 of these genesDLL1About this report →
- FGFR3-Related Chondrodysplasias (Achondroplasia and Related Conditions)Reads 1 of these genesFGFR3About this report →
- Greig Cephalopolysyndactyly SyndromeReads 1 of these genesGLI3About this report →
- Hereditary RetinoblastomaReads 1 of these genesRB1About this report →
- L1 SyndromeReads 1 of these genesL1CAMAbout this report →
- Orofaciodigital Syndrome Type 14Reads 1 of these genesC2CD3About this report →
- Smith-Lemli-Opitz SyndromeReads 1 of these genesDHCR7About this report →
- Townes-Brocks SyndromeReads 1 of these genesSALL1About this report →
- Congenital Disorders of GlycosylationReads 7 of these genesCRPPAFKRPFKTNGMPPBPOMGNT1POMT1About this report →
- Limb-Girdle Muscular DystrophyReads 4 of these genesFKRPFKTNGMPPBPOMGNT1About this report →
- MedulloblastomaReads 1 of these genesSUFUAbout this report →
- Microphthalmia, Anophthalmia & ColobomaReads 3 of these genesOTX2SHHSOX2About this report →
- Syndromic CraniosynostosisReads 2 of these genesFGFR1FGFR3About this report →
- Meckel SyndromeReads 1 of these genesTXNDC15About this report →
- Heterotaxy & Laterality DefectsReads 1 of these genesNODALAbout this report →
- HyperinsulinismReads 1 of these genesFOXA2About this report →
- Homocystinuria & Cobalamin DisordersReads 1 of these genesMTHFRAbout this report →
- Congenital Myasthenic SyndromeReads 1 of these genesGMPPBAbout this report →
- Joubert Syndrome And Related DisordersReads 1 of these genesSUFUAbout this report →
- Dilated CardiomyopathyReads 1 of these genesFKTNAbout this report →
- Female InfertilityReads 1 of these genesTRIP13About this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 1 of these genesWDR81About this report →
- Hereditary Spastic ParaplegiaReads 1 of these genesL1CAMAbout this report →
- Retinitis PigmentosaReads 1 of these genesPOMGNT1About this report →
- Inherited Neurodegenerative DisordersReads 2 of these genesL1CAMWDR81About this report →
- Rare Hereditary Peripheral NeuropathiesReads 1 of these genesMTHFRAbout this report →
Vienu tyrimu sužinokite genus, susijusius su Holoprosencephaly, ir kitą jūsų genomo dalį.
Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites
Įsigyti savo Genome Test59 genų susiję su Holoprosencephaly
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Holoprosencephaly. 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 |
|---|---|---|
| TXNDC15thioredoxin domain containing 15 | Visada | 1 ligoje |
| ZRSR2zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 | Visada | 1 ligoje |
| GPKOWG-patch domain and KOW motifs | Labai dažnai (80–99%) | 1 ligoje |
| OTX2orthodenticle homeobox 2 | Labai dažnai (80–99%) | 2 ligose |
| PRRX1paired related homeobox 1 | Labai dažnai (80–99%) | 2 ligose |
| CILK1ciliogenesis associated kinase 1 | Dažnai (30–79%) | 1 ligoje |
| CNOT1CCR4-NOT transcription complex subunit 1 | Dažnai (30–79%) | 1 ligoje |
| MTHFRmethylenetetrahydrofolate reductase | Dažnai (30–79%) | 1 ligoje |
| PLCH1phospholipase C eta 1 | Dažnai (30–79%) | 1 ligoje |
| PTCH1patched 1 | Dažnai (30–79%) | 2 ligose |
| SHHsonic hedgehog signaling molecule | Dažnai (30–79%) | 4 ligose |
| VANGL2VANGL planar cell polarity protein 2 | Dažnai (30–79%) | 1 ligoje |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Kartais (5–29%) | 1 ligoje |
| BUB1BUB1 mitotic checkpoint serine/threonine kinase | Kartais (5–29%) | 1 ligoje |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Kartais (5–29%) | 1 ligoje |
| BUB3BUB3 mitotic checkpoint protein | Kartais (5–29%) | 1 ligoje |
| CDONcell adhesion associated, oncogene regulated | Kartais (5–29%) | 2 ligose |
| CEP57centrosomal protein 57 | Kartais (5–29%) | 1 ligoje |
| CHD7chromodomain helicase DNA binding protein 7 | Kartais (5–29%) | 2 ligose |
| CRIPTOcripto, EGF-CFC family member | Kartais (5–29%) | 1 ligoje |
| CRPPACDP-L-ribitol pyrophosphorylase A | Kartais (5–29%) | 1 ligoje |
| DHCR77-dehydrocholesterol reductase | Kartais (5–29%) | 2 ligose |
| DISP1dispatched RND transporter family member 1 | Kartais (5–29%) | 1 ligoje |
| DLL1delta like canonical Notch ligand 1 | Kartais (5–29%) | 1 ligoje |
| FGF8fibroblast growth factor 8 | Kartais (5–29%) | 1 ligoje |
| FGFR1fibroblast growth factor receptor 1 | Kartais (5–29%) | 1 ligoje |
| FGFR3fibroblast growth factor receptor 3 | Kartais (5–29%) | 1 ligoje |
| FKRPfukutin related protein | Kartais (5–29%) | 1 ligoje |
| FKTNfukutin | Kartais (5–29%) | 2 ligose |
| FOXH1forkhead box H1 | Kartais (5–29%) | 1 ligoje |
| GAS1growth arrest specific 1 | Kartais (5–29%) | 1 ligoje |
| GLI2GLI family zinc finger 2 | Kartais (5–29%) | 3 ligose |
| GLI3GLI family zinc finger 3 | Kartais (5–29%) | 2 ligose |
| GMPPBGDP-mannose pyrophosphorylase B | Kartais (5–29%) | 1 ligoje |
| HOXA2homeobox A2 | Kartais (5–29%) | 1 ligoje |
| L1CAML1 cell adhesion molecule | Kartais (5–29%) | 1 ligoje |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Kartais (5–29%) | 1 ligoje |
| NODALnodal growth differentiation factor | Kartais (5–29%) | 1 ligoje |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Kartais (5–29%) | 1 ligoje |
| POMT1protein O-mannosyltransferase 1 | Kartais (5–29%) | 1 ligoje |
Rodyti dar 19 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| POMT2protein O-mannosyltransferase 2 | Kartais (5–29%) | 1 ligoje |
| PPP1R12Aprotein phosphatase 1 regulatory subunit 12A | Kartais (5–29%) | 1 ligoje |
| RB1RB transcriptional corepressor 1 | Kartais (5–29%) | 1 ligoje |
| SALL1spalt like transcription factor 1 | Kartais (5–29%) | 1 ligoje |
| SEMA3Esemaphorin 3E | Kartais (5–29%) | 1 ligoje |
| SIX3SIX homeobox 3 | Kartais (5–29%) | 2 ligose |
| SOX2SRY-box transcription factor 2 | Kartais (5–29%) | 1 ligoje |
| SUFUSUFU negative regulator of hedgehog signaling | Kartais (5–29%) | 1 ligoje |
| TBC1D32TBC1 domain family member 32 | Kartais (5–29%) | 1 ligoje |
| TGIF1TGFB induced factor homeobox 1 | Kartais (5–29%) | 1 ligoje |
| TRIP13thyroid hormone receptor interactor 13 | Kartais (5–29%) | 1 ligoje |
| WDR81WD repeat domain 81 | Kartais (5–29%) | 1 ligoje |
| ZIC2Zic family zinc finger 2 | Kartais (5–29%) | 2 ligose |
| FOXA2forkhead box A2 | Retai (1–4 %) | 1 ligoje |
| HESX1HESX homeobox 1 | Retai (1–4 %) | 1 ligoje |
| LHX4LIM homeobox 4 | Retai (1–4 %) | 1 ligoje |
| POU1F1POU class 1 homeobox 1 | Retai (1–4 %) | 1 ligoje |
| PROP1PROP paired-like homeobox 1 | Retai (1–4 %) | 1 ligoje |
| C2CD3C2 domain containing 3 centriole elongation regulator | 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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Iš kur tai žinoma
- Žmogaus fenotipo ontologija, 2026-09-01 leidimas: požymis, jo pavadinimai, apibrėžimas ir su juo susiję genai. Daugiau sužinokite svetainėje hpo.jax.org.
- Duomenų leidimas 2026.10.19-9814e911.
AtlasKam mes padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
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Read the genes behind these traits in your own DNA.
The Genome Test sequences nearly all of your DNA, not a preset panel, so every gene on these pages is in your data. Premium adds 810+ physician-ready reports.
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