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Tunnus
Focal segmental glomerulosclerosis
Segmental accumulation of scar tissue in individual (but not all) glomeruli.
Kokkuvõte
- Teised nimetused
- Focal and segmental glomerular sclerosis, Focal and segmental glomerulosclerosis, focal glomerulosclerosis
- Kehasüsteem
- Abnormality of the genitourinary system
Focal segmental glomerulosclerosisHP:0000097
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Read the genes linked to Focal segmental glomerulosclerosis, and the rest of your genome, with one test.
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Telli oma Genome Test80 geeni on seotud tunnusega Focal segmental glomerulosclerosis
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Focal segmental glomerulosclerosis. 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 |
|---|---|---|
| ACTN4actinin alpha 4 | Alati | Esineb 2 haiguses |
| ANLNanillin, actin binding protein | Alati | Esineb 2 haiguses |
| APTXaprataxin | Alati | Esineb 1 haiguses |
| COQ2coenzyme Q2, polyprenyltransferase | Alati | Esineb 1 haiguses |
| CRB2crumbs cell polarity complex component 2 | Alati | Esineb 2 haiguses |
| DAAM2dishevelled associated activator of morphogenesis 2 | Alati | Esineb 2 haiguses |
| GGCXgamma-glutamyl carboxylase | Alati | Esineb 1 haiguses |
| ITGA3integrin subunit alpha 3 | Alati | Esineb 1 haiguses |
| LAMA5laminin subunit alpha 5 | Alati | Esineb 2 haiguses |
| MYO1Emyosin IE | Alati | Esineb 2 haiguses |
| NEK8NIMA related kinase 8 | Alati | Esineb 1 haiguses |
| NUP133nucleoporin 133 | Alati | Esineb 3 haiguses |
| NUP85nucleoporin 85 | Alati | Esineb 2 haiguses |
| NUP93nucleoporin 93 | Alati | Esineb 2 haiguses |
| PSKH1protein serine kinase H1 | Alati | Esineb 1 haiguses |
| SEC61A1SEC61 translocon subunit alpha 1 | Alati | Esineb 1 haiguses |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Alati | Esineb 2 haiguses |
| TPRKBTP53RK binding protein | Alati | Esineb 1 haiguses |
| WT1WT1 transcription factor | Alati | Esineb 5 haiguses |
| COQ6coenzyme Q6, monooxygenase | Väga sageli (80–99%) | Esineb 1 haiguses |
| COQ8Bcoenzyme Q8B | Väga sageli (80–99%) | Esineb 2 haiguses |
| NUP107nucleoporin 107 | Väga sageli (80–99%) | Esineb 3 haiguses |
| ANKFY1ankyrin repeat and FYVE domain containing 1 | Sageli (30–79%) | Esineb 1 haiguses |
| APOL1apolipoprotein L1 | Sageli (30–79%) | Esineb 2 haiguses |
| ARHGAP24Rho GTPase activating protein 24 | Sageli (30–79%) | Esineb 1 haiguses |
| ARHGDIARho GDP dissociation inhibitor alpha | Sageli (30–79%) | Esineb 1 haiguses |
| AVILadvillin | Sageli (30–79%) | Esineb 1 haiguses |
| CD2APCD2 associated protein | Sageli (30–79%) | Esineb 2 haiguses |
| COL4A3collagen type IV alpha 3 chain | Sageli (30–79%) | Esineb 2 haiguses |
| EMP2epithelial membrane protein 2 | Sageli (30–79%) | Esineb 1 haiguses |
| GAPVD1GTPase activating protein and VPS9 domains 1 | Sageli (30–79%) | Esineb 1 haiguses |
| INF2inverted formin 2 | Sageli (30–79%) | Esineb 3 haiguses |
| KANK2KN motif and ankyrin repeat domains 2 | Sageli (30–79%) | Esineb 1 haiguses |
| KIRREL1kirre like nephrin family adhesion molecule 1 | Sageli (30–79%) | Esineb 1 haiguses |
| LAGE3L antigen family member 3 | Sageli (30–79%) | Esineb 1 haiguses |
| LAMB2laminin subunit beta 2 | Sageli (30–79%) | Esineb 1 haiguses |
| LMX1BLIM homeobox transcription factor 1 beta | Sageli (30–79%) | Esineb 1 haiguses |
| MAGI2membrane associated guanylate kinase, WW and PDZ domain containing 2 | Sageli (30–79%) | Esineb 1 haiguses |
| MTX2metaxin 2 | Sageli (30–79%) | Esineb 1 haiguses |
| NOP10NOP10 ribonucleoprotein | Sageli (30–79%) | Esineb 1 haiguses |
Näita veel 40 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| NPHS1NPHS1 adhesion molecule, nephrin | Sageli (30–79%) | Esineb 1 haiguses |
| NPHS2NPHS2 stomatin family member, podocin | Sageli (30–79%) | Esineb 2 haiguses |
| NUP160nucleoporin 160 | Sageli (30–79%) | Esineb 2 haiguses |
| NUP205nucleoporin 205 | Sageli (30–79%) | Esineb 2 haiguses |
| NUP37nucleoporin 37 | Sageli (30–79%) | Esineb 1 haiguses |
| PAX2paired box 2 | Sageli (30–79%) | Esineb 2 haiguses |
| PLCE1phospholipase C epsilon 1 | Sageli (30–79%) | Esineb 2 haiguses |
| PTPROprotein tyrosine phosphatase receptor type O | Sageli (30–79%) | Esineb 2 haiguses |
| SGPL1sphingosine-1-phosphate lyase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| TBC1D8BTBC1 domain family member 8B | Sageli (30–79%) | Esineb 2 haiguses |
| TRPC6transient receptor potential cation channel subfamily C member 6 | Sageli (30–79%) | Esineb 2 haiguses |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Sageli (30–79%) | Esineb 1 haiguses |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Sageli (30–79%) | Esineb 1 haiguses |
| COL4A4collagen type IV alpha 4 chain | Mõnikord (5–29%) | Esineb 1 haiguses |
| DKC1dyskerin pseudouridine synthase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Mõnikord (5–29%) | Esineb 1 haiguses |
| TP53RKTP53 regulating kinase | Mõnikord (5–29%) | Esineb 1 haiguses |
| CLCNKBchloride voltage-gated channel Kb | Harva (1–4%) | Esineb 1 haiguses |
| JAG1jagged canonical Notch ligand 1 | Harva (1–4%) | Esineb 1 haiguses |
| SLC12A3solute carrier family 12 member 3 | Harva (1–4%) | Esineb 1 haiguses |
| CLCN5Cl-/H+ antiporter 5 | Pole registreeritud | Esineb 1 haiguses |
| G6PC1glucose-6-phosphatase catalytic subunit 1 | Pole registreeritud | Esineb 1 haiguses |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Pole registreeritud | Esineb 1 haiguses |
| RENrenin | Pole registreeritud | Esineb 1 haiguses |
| SCARB2scavenger receptor class B member 2 | Pole registreeritud | Esineb 1 haiguses |
| SLC37A4solute carrier family 37 member 4 | Pole registreeritud | Esineb 2 haiguses |
| WDR73WD repeat domain 73 | 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 2026.10.16-c6eea6bf.
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Üks test. Vastused kogu eluks.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast