AtlasTunnus
Nephronophthisis
Presence of cysts at the corticomedullary junction of the kidney in combination with tubulointerstitial fibrosis.
Kokkuvõte
- Teised nimetused
- juvenile nephronophthisis
- Kehasüsteem
- Abnormality of the genitourinary system
AtlasSelle lehe andmed
Lehe aadressile saab lisada .json või päringusse application/json, et lugeda seda JSON-vormingus.
library(jsonlite)
url <- "https://dantelabs.com/traits/nephronophthisis.json"
page <- fromJSON(url)
page$trait$nameLugege välja geenid, mis on seotud Nephronophthisis-ga, ja kogu ülejäänud genoom ühe testiga.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test23 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.
- Nephronophthisis and Senior-Løken SyndromeReads 19 of these genesCEP83MAPKBP1NEK8NPHP1NPHP3SDCCAG8About this report →
- Joubert Syndrome And Related DisordersReads 9 of these genesNPHP1RPGRIP1LTMEM67CEP290CEP120TMEM138About this report →
- Asphyxiating Thoracic Dystrophy 2 (IFT80)Reads 1 of these genesIFT80About this report →
- CEP164-Related CiliopathyReads 1 of these genesCEP164About this report →
Show 19 more reports
- CEP290-Related CiliopathyReads 1 of these genesCEP290About this report →
- IFT140-Related CiliopathyReads 1 of these genesIFT140About this report →
- Jeune Asphyxiating Thoracic Dystrophy (DYNC2H1)Reads 1 of these genesDYNC2H1About this report →
- NEK8-Related Renal-Hepatic-Pancreatic DysplasiaReads 1 of these genesNEK8About this report →
- Short-Rib Thoracic Dysplasia 11 (DYNC2I2)Reads 1 of these genesDYNC2I2About this report →
- Short-Rib Thoracic Dysplasia 8 (DYNC2I1)Reads 1 of these genesDYNC2I1About this report →
- Ellis-van Creveld Syndrome and Cranioectodermal DysplasiaReads 2 of these genesIFT43WDR19About this report →
- TRIP11-Related Skeletal DysplasiaReads 1 of these genesTRIP11About this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 5 of these genesTMEM67CEP290TMEM138AHI1TMEM216About this report →
- Meckel SyndromeReads 2 of these genesRPGRIP1LTMEM67About this report →
- Bardet-Biedl and Alström SyndromesReads 3 of these genesSDCCAG8CEP290IFT172About this report →
- Polycystic Kidney DiseaseReads 2 of these genesIFT140NEK8About this report →
- Achondrogenesis panelReads 1 of these genesTRIP11About this report →
- Syndromic CraniosynostosisReads 2 of these genesIFT43WDR19About this report →
- Retinitis PigmentosaReads 3 of these genesIFT140IFT43IFT172About this report →
- Hemolytic Uremic Syndrome, Interstitial NephritisReads 1 of these genesFAN1About this report →
- Inherited Neurodegenerative DisordersReads 5 of these genesTMEM67CEP290TMEM138AHI1TMEM216About this report →
- Leber Congenital Amaurosis & RPE65-Related RetinopathyReads 1 of these genesCEP290About this report →
- DNA Repair DiseaseReads 1 of these genesFAN1About this report →
Lugege välja geenid, mis on seotud Nephronophthisis-ga, ja kogu ülejäänud genoom ühe testiga.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test36 geeni on seotud tunnusega Nephronophthisis
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Nephronophthisis. Enamikul selle tunnusega inimestest ei ole ühtegi neist haigustest. Selles loendis olev geen ei ütle midagi kellegi enda genoomi kohta.
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| CEP83centrosomal protein 83 | Alati | Esineb 1 haiguses |
| FAN1FANCD2 and FANCI associated nuclease 1 | Alati | Esineb 1 haiguses |
| IFT140intraflagellar transport 140 | Alati | Esineb 2 haiguses |
| IFT43intraflagellar transport 43 | Alati | Esineb 1 haiguses |
| MAPKBP1mitogen-activated protein kinase binding protein 1 | Alati | Esineb 1 haiguses |
| NEK8NIMA related kinase 8 | Alati | Esineb 2 haiguses |
| NPHP1nephrocystin 1 | Alati | Esineb 4 haiguses |
| NPHP3nephrocystin 3 | Alati | Esineb 2 haiguses |
| RPGRIP1LRPGRIP1 like | Alati | Esineb 2 haiguses |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Alati | Esineb 2 haiguses |
| TMEM67transmembrane protein 67 | Alati | Esineb 5 haiguses |
| WDR19WD repeat domain 19 | Alati | Esineb 4 haiguses |
| XPNPEP3X-prolyl aminopeptidase 3 | Alati | Esineb 1 haiguses |
| CEP164centrosomal protein 164 | Väga sageli (80–99%) | Esineb 2 haiguses |
| IFT54intraflagellar transport 54 | Väga sageli (80–99%) | Esineb 2 haiguses |
| CEP290centrosomal protein 290 | Sageli (30–79%) | Esineb 2 haiguses |
| DCDC2doublecortin domain containing 2 | Sageli (30–79%) | Esineb 1 haiguses |
| INVSinversin | Sageli (30–79%) | Esineb 2 haiguses |
| IQCB1IQ motif containing B1 | Sageli (30–79%) | Esineb 2 haiguses |
| NPHP4nephrocystin 4 | Sageli (30–79%) | Esineb 3 haiguses |
| CEP120centrosomal protein 120 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DYNC2H1dynein cytoplasmic 2 heavy chain 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DYNC2I1dynein 2 intermediate chain 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DYNC2I2dynein 2 intermediate chain 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DYNC2LI1dynein cytoplasmic 2 light intermediate chain 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| IFT172intraflagellar transport 172 | Mõnikord (5–29%) | Esineb 2 haiguses |
| IFT80intraflagellar transport 80 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KIAA0753KIAA0753 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TMEM138transmembrane protein 138 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TRIP11thyroid hormone receptor interactor 11 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TTC21Btetratricopeptide repeat domain 21B | Mõnikord (5–29%) | Esineb 2 haiguses |
| AHI1Abelson helper integration site 1 | Pole registreeritud | Esineb 1 haiguses |
| ANKS6ankyrin repeat and sterile alpha motif domain containing 6 | Pole registreeritud | Esineb 1 haiguses |
| GLIS2GLIS family zinc finger 2 | Pole registreeritud | Esineb 1 haiguses |
| TMEM216transmembrane protein 216 | Pole registreeritud | Esineb 1 haiguses |
| ZNF423zinc finger protein 423 | Pole registreeritud | Esineb 1 haiguses |
Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.
Laiemad tunnused
Allikas
- Inimese fenotüübi ontoloogia, versioon 2026-09-01: tunnus, selle nimetused, määratlus ja sellega seotud geenid. Lisateave leiab aadressilt hpo.jax.org.
- Andmeversioon 2026.10.19-9814e911.
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Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
