Tunnus
Progressively abnormally small cranium
Kliiniline nimetus: Progressive microcephaly
Progressive microcephaly is diagnosed when the head circumference falls progressively behind age- and gender-dependent norms.
Kokkuvõte
- Teised nimetused
- Progressively abnormally small skull, Microcephaly, postnatal, progressive, Microcephaly, progressive
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
Read the genes linked to Progressively abnormally small cranium, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test94 geeni on seotud tunnusega Progressively abnormally small cranium
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Progressively abnormally small cranium. 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 |
|---|---|---|
| ACBD5acyl-CoA binding domain containing 5 | Alati | Esineb 1 haiguses |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Alati | Esineb 2 haiguses |
| CCDC88Acoiled-coil and HOOK domain protein 88A | Alati | Esineb 1 haiguses |
| CDC42cell division cycle 42 | Alati | Esineb 1 haiguses |
| COG7component of oligomeric golgi complex 7 | Alati | Esineb 2 haiguses |
| FOXG1forkhead box G1 | Alati | Esineb 1 haiguses |
| GOLGA2golgin A2 | Alati | Esineb 1 haiguses |
| GOT2glutamic-oxaloacetic transaminase 2 | Alati | Esineb 1 haiguses |
| GTPBP2GTP binding protein 2 | Alati | Esineb 1 haiguses |
| NAPBNSF attachment protein beta | Alati | Esineb 1 haiguses |
| PCDH12protocadherin 12 | Alati | Esineb 1 haiguses |
| PLAAphospholipase A2 activating protein | Alati | Esineb 1 haiguses |
| QARS1glutaminyl-tRNA synthetase 1 | Alati | Esineb 1 haiguses |
| RNF113Aring finger protein 113A | Alati | Esineb 1 haiguses |
| SNAP29synaptosome associated protein 29 | Alati | Esineb 1 haiguses |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Alati | Esineb 1 haiguses |
| STAMBPSTAM binding protein | Alati | Esineb 1 haiguses |
| TM2D3TM2 domain containing 3 | Alati | Esineb 1 haiguses |
| TRAPPC6Btrafficking protein particle complex subunit 6B | Alati | Esineb 1 haiguses |
| TSEN15tRNA splicing endonuclease subunit 15 | Alati | Esineb 2 haiguses |
| TSEN2tRNA splicing endonuclease subunit 2 | Alati | Esineb 2 haiguses |
| TSEN54tRNA splicing endonuclease subunit 54 | Alati | Esineb 2 haiguses |
| TUBGCP2tubulin gamma complex component 2 | Alati | Esineb 1 haiguses |
| VARS1valyl-tRNA synthetase 1 | Alati | Esineb 1 haiguses |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Väga sageli (80–99%) | Esineb 3 haiguses |
| ATP6V1AATPase H+ transporting V1 subunit A | Väga sageli (80–99%) | Esineb 1 haiguses |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| BCKDKbranched chain keto acid dehydrogenase kinase | Väga sageli (80–99%) | Esineb 1 haiguses |
| CASKcalcium/calmodulin dependent serine protein kinase | Väga sageli (80–99%) | Esineb 2 haiguses |
| CDC45cell division cycle 45 | Väga sageli (80–99%) | Esineb 1 haiguses |
| DIAPH1diaphanous related formin 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| MECP2methyl-CpG binding protein 2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| PYCR2pyrroline-5-carboxylate reductase 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RNU4-2RNA, U4 small nuclear 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SLC2A1solute carrier family 2 member 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SMPD4sphingomyelin phosphodiesterase 4 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TOE1target of EGR1, exonuclease | Väga sageli (80–99%) | Esineb 1 haiguses |
| AGTPBP1ATP/GTP binding carboxypeptidase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| ALG1ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Sageli (30–79%) | Esineb 1 haiguses |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Sageli (30–79%) | Esineb 1 haiguses |
Näita veel 54 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| DPM2dolichyl-phosphate mannosyltransferase subunit 2, regulatory | Sageli (30–79%) | Esineb 1 haiguses |
| EMC1ER membrane protein complex subunit 1 | Sageli (30–79%) | Esineb 1 haiguses |
| EXOSC3exosome component 3 | Sageli (30–79%) | Esineb 2 haiguses |
| EXOSC8exosome component 8 | Sageli (30–79%) | Esineb 1 haiguses |
| EXOSC9exosome component 9 | Sageli (30–79%) | Esineb 1 haiguses |
| FAR1fatty acyl-CoA reductase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| IQSEC2IQ motif and Sec7 domain ArfGEF 2 | Sageli (30–79%) | Esineb 1 haiguses |
| LAMB2laminin subunit beta 2 | Sageli (30–79%) | Esineb 1 haiguses |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Sageli (30–79%) | Esineb 1 haiguses |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Sageli (30–79%) | Esineb 1 haiguses |
| PUS3pseudouridine synthase 3 | Sageli (30–79%) | Esineb 1 haiguses |
| SEPSECSSep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase | Sageli (30–79%) | Esineb 2 haiguses |
| SLC25A46solute carrier family 25 member 46 | Sageli (30–79%) | Esineb 1 haiguses |
| SLC39A14solute carrier family 39 member 14 | Sageli (30–79%) | Esineb 1 haiguses |
| TSEN34tRNA splicing endonuclease subunit 34 | Sageli (30–79%) | Esineb 1 haiguses |
| VRK1VRK serine/threonine kinase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| ZSWIM6zinc finger SWIM-type containing 6 | Sageli (30–79%) | Esineb 1 haiguses |
| CC2D1Acoiled-coil and C2 domain containing 1A | Mõnikord (5–29%) | Esineb 1 haiguses |
| COG1component of oligomeric golgi complex 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| COG8component of oligomeric golgi complex 8 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DOLKdolichol kinase | Mõnikord (5–29%) | Esineb 1 haiguses |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| EXTL3exostosin like glycosyltransferase 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GLYCTKglycerate kinase | Mõnikord (5–29%) | Esineb 1 haiguses |
| GRIA2glutamate ionotropic receptor AMPA type subunit 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ISCA1iron-sulfur cluster assembly 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LGI3leucine rich repeat LGI family member 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MPC1mitochondrial pyruvate carrier 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Harva (1–4%) | Esineb 1 haiguses |
| ACO2aconitase 2 | Pole registreeritud | Esineb 1 haiguses |
| ARFGEF2ARF guanine nucleotide exchange factor 2 | Pole registreeritud | Esineb 1 haiguses |
| ASNSasparagine synthetase (glutamine-hydrolyzing) | Pole registreeritud | Esineb 1 haiguses |
| BRAT1BRCA1 associated ATM activator 1 | Pole registreeritud | Esineb 1 haiguses |
| CDKL5cyclin dependent kinase like 5 | Pole registreeritud | Esineb 1 haiguses |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Pole registreeritud | Esineb 1 haiguses |
| EFTUD2elongation factor Tu GTP binding domain containing 2 | Pole registreeritud | Esineb 1 haiguses |
| MDH1malate dehydrogenase 1 | Pole registreeritud | Esineb 1 haiguses |
| MFSD2AMFSD2 lysolipid transporter A, lysophospholipid | Pole registreeritud | Esineb 1 haiguses |
| PCLOpiccolo presynaptic cytomatrix protein | Pole registreeritud | Esineb 1 haiguses |
| PNKPpolynucleotide kinase 3'-phosphatase | Pole registreeritud | Esineb 1 haiguses |
| PNPOpyridoxamine 5'-phosphate oxidase | Pole registreeritud | Esineb 1 haiguses |
| POMKprotein O-mannose kinase | Pole registreeritud | Esineb 1 haiguses |
| PPT1palmitoyl-protein thioesterase 1 | Pole registreeritud | Esineb 1 haiguses |
| PTRH2peptidyl-tRNA hydrolase 2 | Pole registreeritud | Esineb 1 haiguses |
| RARS2arginyl-tRNA synthetase 2, mitochondrial | Pole registreeritud | Esineb 1 haiguses |
| RNASEH2Aribonuclease H2 subunit A | Pole registreeritud | Esineb 1 haiguses |
| RNASEH2Cribonuclease H2 subunit C | Pole registreeritud | Esineb 1 haiguses |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Pole registreeritud | Esineb 1 haiguses |
| SLC1A4solute carrier family 1 member 4 | Pole registreeritud | Esineb 1 haiguses |
| TREX1three prime repair exonuclease 1 | Pole registreeritud | Esineb 1 haiguses |
| VPS53VPS53 subunit of GARP complex | Pole registreeritud | Esineb 1 haiguses |
| WWOXWW domain containing oxidoreductase | Pole registreeritud | Esineb 1 haiguses |
| ZNHIT3zinc finger HIT-type containing 3 | 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.
Üks test. Vastused kogu eluks.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast