Tunnus
Decreased parathyroid hormone secretion
Kliiniline nimetus: Hypoparathyroidism
A condition caused by a deficiency of parathyroid hormone characterized by hypocalcemia and hyperphosphatemia.
Kokkuvõte
- Teised nimetused
- Low parathyroid hormone
- Kehasüsteem
- Abnormality of the endocrine system
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
Read the genes linked to Decreased parathyroid hormone secretion, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test50 geeni on seotud tunnusega Decreased parathyroid hormone secretion
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Decreased parathyroid hormone secretion. 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 |
|---|---|---|
| GATA3GATA binding protein 3 | Alati | Esineb 2 haiguses |
| KDM6Alysine demethylase 6A | Alati | Esineb 1 haiguses |
| KMT2Dlysine methyltransferase 2D | Alati | Esineb 1 haiguses |
| PTHparathyroid hormone | Alati | Esineb 1 haiguses |
| AIREautoimmune regulator | Väga sageli (80–99%) | Esineb 2 haiguses |
| TBCEtubulin folding cofactor E | Väga sageli (80–99%) | Esineb 2 haiguses |
| ARVCFARVCF delta catenin family member | Sageli (30–79%) | Esineb 1 haiguses |
| CHD7chromodomain helicase DNA binding protein 7 | Sageli (30–79%) | Esineb 1 haiguses |
| COMTcatechol-O-methyltransferase | Sageli (30–79%) | Esineb 1 haiguses |
| GP1BBglycoprotein Ib platelet subunit beta | Sageli (30–79%) | Esineb 1 haiguses |
| HIRAhistone cell cycle regulator | Sageli (30–79%) | Esineb 1 haiguses |
| IRX5iroquois homeobox 5 | Sageli (30–79%) | Esineb 1 haiguses |
| JMJD1Cjumonji domain containing 1C | Sageli (30–79%) | Esineb 1 haiguses |
| RREB1ras responsive element binding protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| SEC24CSEC24 homolog C, COPII component | Sageli (30–79%) | Esineb 1 haiguses |
| TBX1T-box transcription factor 1 | Sageli (30–79%) | Esineb 2 haiguses |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Sageli (30–79%) | Esineb 1 haiguses |
| ATP7BATPase copper transporting beta | Mõnikord (5–29%) | Esineb 2 haiguses |
| DGCR2DiGeorge syndrome critical region gene 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DGCR6DiGeorge syndrome critical region gene 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DGCR8DGCR8 microprocessor complex subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| ESS2ess-2 spliceosome associated protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Mõnikord (5–29%) | Esineb 1 haiguses |
| HADHBhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | Mõnikord (5–29%) | Esineb 1 haiguses |
| HBBhemoglobin subunit beta | Mõnikord (5–29%) | Esineb 3 haiguses |
| MPV17mitochondrial inner membrane protein MPV17 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Mõnikord (5–29%) | Esineb 1 haiguses |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Mõnikord (5–29%) | Esineb 1 haiguses |
| TBX2T-box transcription factor 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Harva (1–4%) | Esineb 1 haiguses |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Harva (1–4%) | Esineb 1 haiguses |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Harva (1–4%) | Esineb 1 haiguses |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Harva (1–4%) | Esineb 1 haiguses |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Harva (1–4%) | Esineb 1 haiguses |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Harva (1–4%) | Esineb 1 haiguses |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Harva (1–4%) | Esineb 1 haiguses |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Harva (1–4%) | Esineb 1 haiguses |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Harva (1–4%) | Esineb 1 haiguses |
Näita veel 10 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Harva (1–4%) | Esineb 1 haiguses |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Harva (1–4%) | Esineb 1 haiguses |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Harva (1–4%) | Esineb 1 haiguses |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Harva (1–4%) | Esineb 1 haiguses |
| NKX2-1NK2 homeobox 1 | Harva (1–4%) | Esineb 1 haiguses |
| COL4A3collagen type IV alpha 3 chain | Pole registreeritud | Esineb 1 haiguses |
| COL4A4collagen type IV alpha 4 chain | Pole registreeritud | Esineb 1 haiguses |
| COL4A5collagen type IV alpha 5 chain | Pole registreeritud | Esineb 1 haiguses |
| FAM111AFAM111 trypsin like peptidase A | Pole registreeritud | Esineb 1 haiguses |
| PTH1Rparathyroid hormone 1 receptor | 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.
Kitsamad tunnused
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