Egenskap
Weak and soft bones
Klinisk navn: 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.
Sammendrag
- Kroppssystem
- Abnormality of the musculoskeletal system
ReferansegenomGRCh38hg38
Posisjoner på gen- og variantsidene følger dette valget i denne nettleseren.
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Endringer i disse genene forårsaker sjeldne tilstander der Weak and soft bones forekommer. De fleste med denne egenskapen har ingen av disse tilstandene, og et gen på denne listen sier ingenting om noens eget genom.
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| CYP27B1cytochrome P450 family 27 subfamily B member 1 | Alltid | I 2 tilstander |
| CYP2R1cytochrome P450 family 2 subfamily R member 1 | Alltid | I 2 tilstander |
| FARSBphenylalanyl-tRNA synthetase subunit beta | Alltid | I 1 tilstand |
| HNF4Ahepatocyte nuclear factor 4 alpha | Alltid | I 1 tilstand |
| NEUROG3neurogenin 3 | Alltid | I 1 tilstand |
| PHEXphosphate regulating endopeptidase X-linked | Alltid | I 2 tilstander |
| SLC34A1solute carrier family 34 member 1 | Alltid | I 1 tilstand |
| VDRvitamin D receptor | Alltid | I 1 tilstand |
| CTNScystinosin, lysosomal cystine transporter | Svært ofte (80–99 %) | I 3 tilstander |
| RNU4ATACRNA, U4atac small nuclear | Svært ofte (80–99 %) | I 1 tilstand |
| ATP7AATPase copper transporting alpha | Ofte (30–79 %) | I 1 tilstand |
| ATP8B1ATPase phospholipid transporting 8B1 | Ofte (30–79 %) | I 1 tilstand |
| FGF23fibroblast growth factor 23 | Ofte (30–79 %) | I 2 tilstander |
| HSD3B7hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 | Ofte (30–79 %) | I 1 tilstand |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Ofte (30–79 %) | I 1 tilstand |
| SLC2A2solute carrier family 2 member 2 | Ofte (30–79 %) | I 2 tilstander |
| AKR1D1aldo-keto reductase family 1 member D1 | Noen ganger (5–29 %) | I 1 tilstand |
| ATP6V0A4ATPase H+ transporting V0 subunit a4 | Noen ganger (5–29 %) | I 1 tilstand |
| BAATbile acid-CoA:amino acid N-acyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| CLDN16claudin 16 | Noen ganger (5–29 %) | I 1 tilstand |
| ALPLalkaline phosphatase, biomineralization associated | Ikke registrert | I 1 tilstand |
| CLCN5Cl-/H+ antiporter 5 | Ikke registrert | I 2 tilstander |
| DMP1dentin matrix acidic phosphoprotein 1 | Ikke registrert | I 1 tilstand |
| EHHADHenoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase | Ikke registrert | I 1 tilstand |
| HLA-DQA1major histocompatibility complex, class II, DQ alpha 1 | Ikke registrert | I 1 tilstand |
| HLA-DQB1major histocompatibility complex, class II, DQ beta 1 | Ikke registrert | I 1 tilstand |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Ikke registrert | I 1 tilstand |
| SLC34A3solute carrier family 34 member 3 | Ikke registrert | I 1 tilstand |
| SLC4A1solute carrier family 4 member 1 (Diego blood group) | Ikke registrert | I 1 tilstand |
| TJP2tight junction protein 2 | Ikke registrert | I 1 tilstand |
Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.
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- Human Phenotype Ontology, versjon 2026-09-01: egenskapen, navnene på den, definisjonen og genene som er knyttet til den. Les mer på hpo.jax.org.
- Datautgave 2026.10.16-c6eea6bf.
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