Požymis
Weak and soft bones
Klinikinis pavadinimas: 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.
Santrauka
- Kūno sistema
- Abnormality of the musculoskeletal system
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
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Įsigyti savo Genome Test30 genų susiję su Weak and soft bones
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Weak and soft bones. Dauguma žmonių, turinčių šį požymį, neturi nė vienos iš tų ligų, o šiame sąraše esantis genas nieko nesako apie kieno nors paties genomą.
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| CYP27B1cytochrome P450 family 27 subfamily B member 1 | Visada | 2 ligose |
| CYP2R1cytochrome P450 family 2 subfamily R member 1 | Visada | 2 ligose |
| FARSBphenylalanyl-tRNA synthetase subunit beta | Visada | 1 ligoje |
| HNF4Ahepatocyte nuclear factor 4 alpha | Visada | 1 ligoje |
| NEUROG3neurogenin 3 | Visada | 1 ligoje |
| PHEXphosphate regulating endopeptidase X-linked | Visada | 2 ligose |
| SLC34A1solute carrier family 34 member 1 | Visada | 1 ligoje |
| VDRvitamin D receptor | Visada | 1 ligoje |
| CTNScystinosin, lysosomal cystine transporter | Labai dažnai (80–99%) | 3 ligose |
| RNU4ATACRNA, U4atac small nuclear | Labai dažnai (80–99%) | 1 ligoje |
| ATP7AATPase copper transporting alpha | Dažnai (30–79%) | 1 ligoje |
| ATP8B1ATPase phospholipid transporting 8B1 | Dažnai (30–79%) | 1 ligoje |
| FGF23fibroblast growth factor 23 | Dažnai (30–79%) | 2 ligose |
| HSD3B7hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 | Dažnai (30–79%) | 1 ligoje |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Dažnai (30–79%) | 1 ligoje |
| SLC2A2solute carrier family 2 member 2 | Dažnai (30–79%) | 2 ligose |
| AKR1D1aldo-keto reductase family 1 member D1 | Kartais (5–29%) | 1 ligoje |
| ATP6V0A4ATPase H+ transporting V0 subunit a4 | Kartais (5–29%) | 1 ligoje |
| BAATbile acid-CoA:amino acid N-acyltransferase | Kartais (5–29%) | 1 ligoje |
| CLDN16claudin 16 | Kartais (5–29%) | 1 ligoje |
| ALPLalkaline phosphatase, biomineralization associated | Neužfiksuota | 1 ligoje |
| CLCN5Cl-/H+ antiporter 5 | Neužfiksuota | 2 ligose |
| DMP1dentin matrix acidic phosphoprotein 1 | Neužfiksuota | 1 ligoje |
| EHHADHenoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase | Neužfiksuota | 1 ligoje |
| HLA-DQA1major histocompatibility complex, class II, DQ alpha 1 | Neužfiksuota | 1 ligoje |
| HLA-DQB1major histocompatibility complex, class II, DQ beta 1 | Neužfiksuota | 1 ligoje |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Neužfiksuota | 1 ligoje |
| SLC34A3solute carrier family 34 member 3 | Neužfiksuota | 1 ligoje |
| SLC4A1solute carrier family 4 member 1 (Diego blood group) | Neužfiksuota | 1 ligoje |
| TJP2tight junction protein 2 | Neužfiksuota | 1 ligoje |
Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.
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Iš kur tai žinoma
- Žmogaus fenotipo ontologija, 2026-09-01 leidimas: požymis, jo pavadinimai, apibrėžimas ir su juo susiję genai. Daugiau sužinokite svetainėje hpo.jax.org.
- Duomenų leidimas 2026.10.16-c6eea6bf.
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