Disorder "Mevalonate kinase deficiency"
Found 2 records
Disorder information
Disorder name:
Mevalonate kinase deficiency
Disoder ID:
Synonyms:
mevalonate kinase deficiency
Definition:
Mevalonate kinase deficiency is a condition characterized by recurrent episodes of fever, which typically begin during infancy. ... There are two types of mevalonate kinase deficiency: a less severe type called hyperimmunoglobulinemia D syndrome (HIDS) and a more severe type called mevalonic aciduria (MVA).
Modifier statisitcs
Record:
2
Gene:
2
Variant:
2
Reference:
1
Effect type:
Expressivity(2)
Modifier effect:
Altered values of urinary mevalonic acid(1)
,Risk factor(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| UNG | UNG:rs151095402 | Expressivity | Risk factor | Assessment of genotype–phenotype associations | modify the phenotypemore | more |
| PEX11G | PEX11G:rs11668511 | Expressivity | Altered values of urinary mevalonic acid | Assessment of genotype–phenotype associations | modify the phenotypemore | more |
Total 2,Each Page
,Jump To
Page