Tunnus
Weak and soft bones
Kliiniline nimetus: Rickets
Rickets is divided into two major categories including calcipenic and phosphopenic. Hypophosphatemia is described as a common manifestation of both categories. Hypophosphatemic rickets is the most common type of rickets that is characterized by low levels of serum phosphate, resistance to ultraviolet radiation or vitamin D intake. There are several issues involved in hypophosphatemic rickets such as calcium, vitamin D, phosphorus deficiencies. Moreover, other disorder can be associated with its occurrence such as absorption defects due to pancreatic, intestinal, gastric, and renal disorders and hepatobiliary disease. Symptoms are usually seen in childhood and can be varied in severity. Severe forms may be linked to bowing of the legs, poor bone growth, and short stature as well as joint and bone pain. Hypophosphatemic rickets are associated with renal excretion of phosphate, hypophosphatemia, and mineral defects in bones. The familial type of the disease is the most common type of rickets.
Kokkuvõte
- Kehasüsteem
- Abnormality of the musculoskeletal system
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
Read the genes linked to Weak and soft bones, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test30 geeni on seotud tunnusega Weak and soft bones
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Weak and soft bones. 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 |
|---|---|---|
| CYP27B1cytochrome P450 family 27 subfamily B member 1 | Alati | Esineb 2 haiguses |
| CYP2R1cytochrome P450 family 2 subfamily R member 1 | Alati | Esineb 2 haiguses |
| FARSBphenylalanyl-tRNA synthetase subunit beta | Alati | Esineb 1 haiguses |
| HNF4Ahepatocyte nuclear factor 4 alpha | Alati | Esineb 1 haiguses |
| NEUROG3neurogenin 3 | Alati | Esineb 1 haiguses |
| PHEXphosphate regulating endopeptidase X-linked | Alati | Esineb 2 haiguses |
| SLC34A1solute carrier family 34 member 1 | Alati | Esineb 1 haiguses |
| VDRvitamin D receptor | Alati | Esineb 1 haiguses |
| CTNScystinosin, lysosomal cystine transporter | Väga sageli (80–99%) | Esineb 3 haiguses |
| RNU4ATACRNA, U4atac small nuclear | Väga sageli (80–99%) | Esineb 1 haiguses |
| ATP7AATPase copper transporting alpha | Sageli (30–79%) | Esineb 1 haiguses |
| ATP8B1ATPase phospholipid transporting 8B1 | Sageli (30–79%) | Esineb 1 haiguses |
| FGF23fibroblast growth factor 23 | Sageli (30–79%) | Esineb 2 haiguses |
| HSD3B7hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 | Sageli (30–79%) | Esineb 1 haiguses |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Sageli (30–79%) | Esineb 1 haiguses |
| SLC2A2solute carrier family 2 member 2 | Sageli (30–79%) | Esineb 2 haiguses |
| AKR1D1aldo-keto reductase family 1 member D1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ATP6V0A4ATPase H+ transporting V0 subunit a4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BAATbile acid-CoA:amino acid N-acyltransferase | Mõnikord (5–29%) | Esineb 1 haiguses |
| CLDN16claudin 16 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ALPLalkaline phosphatase, biomineralization associated | Pole registreeritud | Esineb 1 haiguses |
| CLCN5Cl-/H+ antiporter 5 | Pole registreeritud | Esineb 2 haiguses |
| DMP1dentin matrix acidic phosphoprotein 1 | Pole registreeritud | Esineb 1 haiguses |
| EHHADHenoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase | Pole registreeritud | Esineb 1 haiguses |
| HLA-DQA1major histocompatibility complex, class II, DQ alpha 1 | Pole registreeritud | Esineb 1 haiguses |
| HLA-DQB1major histocompatibility complex, class II, DQ beta 1 | Pole registreeritud | Esineb 1 haiguses |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Pole registreeritud | Esineb 1 haiguses |
| SLC34A3solute carrier family 34 member 3 | Pole registreeritud | Esineb 1 haiguses |
| SLC4A1solute carrier family 4 member 1 (Diego blood group) | Pole registreeritud | Esineb 1 haiguses |
| TJP2tight junction protein 2 | 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