MVK Chromosome 12
Mevalonate kinase
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What This Gene Does
This gene encodes the peroxisomal enzyme mevalonate kinase. Mevalonate is a key intermediate, and mevalonate kinase a key early enzyme, in isoprenoid and sterol synthesis. Mevalonate kinase deficiency caused by mutation of this gene results in mevalonic aciduria, a disease characterized psychomotor retardation, failure to thrive, hepatosplenomegaly, anemia and recurrent febrile crises. Defects in this gene also cause hyperimmunoglobulinaemia D and periodic fever syndrome, a disorder characterized by recurrent episodes of fever associated with lymphadenopathy, arthralgia, gastrointestinal dismay and skin rash. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
Associated Conditions (14)
Hyperimmunoglobulin D with periodic fever
Autoinflammatory syndrome
Mevalonic aciduria
Porokeratosis 3
disseminated superficial actinic type
Inborn genetic diseases
Retinal dystrophy
MVK-related disorder
Colon adenocarcinoma
Gastric cancer
Cervical cancer
Deficiency of mevalonate kinase
See cases
autosomal recessive MVK-related disorders
Key Variants
RS104895313
Conflicting classifications of pathogenicity
Hyperimmunoglobulin D with periodic fever, Hyperimmunoglobulin D with periodic fever
Health Risk
RS104895318
Conflicting classifications of pathogenicity
Hyperimmunoglobulin D with periodic fever, Autoinflammatory syndrome, Mevalonic aciduria
Health Risk
RS104895326
Conflicting classifications of pathogenicity
Mevalonic aciduria, Hyperimmunoglobulin D with periodic fever, Porokeratosis 3
Health Risk
RS104895329
Conflicting classifications of pathogenicity
Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria, Porokeratosis 3
Health Risk
RS104895342
Conflicting classifications of pathogenicity
Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria, Porokeratosis 3
Health Risk
RS104895380
Conflicting classifications of pathogenicity
Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria, Porokeratosis 3
Health Risk
RS1212639017
Conflicting classifications of pathogenicity
Porokeratosis 3, disseminated superficial actinic type, Hyperimmunoglobulin D with periodic fever
Health Risk
RS1325994522
Conflicting classifications of pathogenicity
Hyperimmunoglobulin D with periodic fever, Porokeratosis 3, disseminated superficial actinic type
Health Risk
RS138342076
Conflicting classifications of pathogenicity
Mevalonic aciduria, Hyperimmunoglobulin D with periodic fever, Porokeratosis 3
Health Risk
RS138818135
Conflicting classifications of pathogenicity
Porokeratosis 3, disseminated superficial actinic type, Hyperimmunoglobulin D with periodic fever
Health Risk
RS139299227
Conflicting classifications of pathogenicity
Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria, Porokeratosis 3
Health Risk
RS144788669
Conflicting classifications of pathogenicity
Hyperimmunoglobulin D with periodic fever, Porokeratosis 3, disseminated superficial actinic type
Health Risk
All Variants (134)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2548625552 | Health Risk | Pathogenic | Porokeratosis 3, disseminated superficial actinic type, Mevalonic aciduria |
| RS2548630725 | Health Risk | Pathogenic | Porokeratosis 3, disseminated superficial actinic type, Mevalonic aciduria |
| RS2548630750 | Health Risk | Pathogenic | Mevalonic aciduria, Hyperimmunoglobulin D with periodic fever, Porokeratosis 3 |
| RS2548631897 | Health Risk | Pathogenic | Porokeratosis 3, disseminated superficial actinic type, Hyperimmunoglobulin D with periodic fever |
| RS2548631903 | Health Risk | Pathogenic | Porokeratosis 3, disseminated superficial actinic type, Mevalonic aciduria |
| RS2548631938 | Health Risk | Pathogenic | Mevalonic aciduria, Porokeratosis 3, disseminated superficial actinic type |
| RS2548642794 | Health Risk | Pathogenic | Mevalonic aciduria, Porokeratosis 3, disseminated superficial actinic type |
| RS2548642823 | Health Risk | Pathogenic | Mevalonic aciduria, Porokeratosis 3, disseminated superficial actinic type |
| RS2548642861 | Health Risk | Pathogenic | Mevalonic aciduria, Porokeratosis 3, disseminated superficial actinic type |
| RS397514570 | Health Risk | Pathogenic | Porokeratosis 3, disseminated superficial actinic type, Porokeratosis 3 |
| RS397514571 | Health Risk | Pathogenic | Porokeratosis 3, disseminated superficial actinic type, Porokeratosis 3 |
| RS398122910 | Health Risk | Pathogenic | Porokeratosis 3, disseminated superficial actinic type, Cervical cancer |
| RS398122911 | Health Risk | Pathogenic | Porokeratosis 3, disseminated superficial actinic type, Porokeratosis 3 |
| RS758026399 | Health Risk | Pathogenic | Mevalonic aciduria, Porokeratosis 3, disseminated superficial actinic type |
| RS104895298 | Health Risk | Pathogenic/Likely pathogenic | Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria, Porokeratosis 3 |
| RS104895301 | Health Risk | Pathogenic/Likely pathogenic | Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria, Porokeratosis 3 |
| RS104895303 | Health Risk | Pathogenic/Likely pathogenic | Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria, Porokeratosis 3 |
| RS104895321 | Health Risk | Pathogenic/Likely pathogenic | Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria, Porokeratosis 3 |
| RS104895323 | Health Risk | Pathogenic/Likely pathogenic | Hyperimmunoglobulin D with periodic fever, Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria |
| RS104895324 | Health Risk | Pathogenic/Likely pathogenic | Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria, Porokeratosis 3 |
| RS104895332 | Health Risk | Pathogenic/Likely pathogenic | Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria, Porokeratosis 3 |
| RS104895335 | Health Risk | Pathogenic/Likely pathogenic | Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria, Porokeratosis 3 |
| RS104895352 | Health Risk | Pathogenic/Likely pathogenic | Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria, Porokeratosis 3 |
| RS104895358 | Health Risk | Pathogenic/Likely pathogenic | Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria, Porokeratosis 3 |
| RS104895364 | Health Risk | Pathogenic/Likely pathogenic | Hyperimmunoglobulin D with periodic fever, Autoinflammatory syndrome, Mevalonic aciduria |
| RS104895366 | Health Risk | Pathogenic/Likely pathogenic | Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria, Porokeratosis 3 |
| RS104895368 | Health Risk | Pathogenic/Likely pathogenic | Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria, Porokeratosis 3 |
| RS104895369 | Health Risk | Pathogenic/Likely pathogenic | Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria, Porokeratosis 3 |
| RS104895382 | Health Risk | Pathogenic/Likely pathogenic | Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria, Porokeratosis 3 |
| RS1593015642 | Health Risk | Pathogenic/Likely pathogenic | Hyperimmunoglobulin D with periodic fever, Hyperimmunoglobulin D with periodic fever |
| RS28934897 | Health Risk | Pathogenic/Likely pathogenic | Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria, Porokeratosis 3 |
| RS776735249 | Health Risk | Pathogenic/Likely pathogenic | Mevalonic aciduria, Porokeratosis 3, disseminated superficial actinic type |
| RS886048933 | Health Risk | Pathogenic/Likely pathogenic | Mevalonic aciduria, Porokeratosis 3, disseminated superficial actinic type |
| RS971159663 | Health Risk | Pathogenic/Likely pathogenic | Mevalonic aciduria, Porokeratosis 3, disseminated superficial actinic type |