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 |
|---|---|---|---|
| RS104895305 | Health Risk | Likely pathogenic | Hyperimmunoglobulin D with periodic fever, Deficiency of mevalonate kinase, Mevalonic aciduria |
| RS104895316 | Health Risk | Likely pathogenic | Hyperimmunoglobulin D with periodic fever, Retinal dystrophy, Mevalonic aciduria |
| RS104895339 | Health Risk | Likely pathogenic | Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria, Porokeratosis 3 |
| RS104895362 | Health Risk | Likely pathogenic | Porokeratosis 3, disseminated superficial actinic type, Mevalonic aciduria |
| RS104895363 | Health Risk | Likely pathogenic | Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria, Porokeratosis 3 |
| RS1198834556 | Health Risk | Likely pathogenic | Mevalonic aciduria, Mevalonic aciduria |
| RS121917790 | Health Risk | Likely pathogenic | Hyperimmunoglobulin D with periodic fever, Porokeratosis 3, disseminated superficial actinic type |
| RS1295630463 | Health Risk | Likely pathogenic | Mevalonic aciduria, Mevalonic aciduria |
| RS1566150887 | Health Risk | Likely pathogenic | Autoinflammatory syndrome, Autoinflammatory syndrome |
| RS1593026935 | Health Risk | Likely pathogenic | Hyperimmunoglobulin D with periodic fever, Hyperimmunoglobulin D with periodic fever |
| RS1884864809 | Health Risk | Likely pathogenic | Mevalonic aciduria, Porokeratosis 3, disseminated superficial actinic type |
| RS1884932883 | Health Risk | Likely pathogenic | Porokeratosis 3, disseminated superficial actinic type, Mevalonic aciduria |
| RS1885666876 | Health Risk | Likely pathogenic | Porokeratosis 3, disseminated superficial actinic type, Mevalonic aciduria |
| RS1885671620 | Health Risk | Likely pathogenic | — |
| RS2136216750 | Health Risk | Likely pathogenic | Hyperimmunoglobulin D with periodic fever, Hyperimmunoglobulin D with periodic fever |
| RS2548623411 | Health Risk | Likely pathogenic | — |
| RS2548631795 | Health Risk | Likely pathogenic | Mevalonic aciduria, Porokeratosis 3, disseminated superficial actinic type |
| RS2548631951 | Health Risk | Likely pathogenic | Porokeratosis 3, disseminated superficial actinic type, Hyperimmunoglobulin D with periodic fever |
| RS767853272 | Health Risk | Likely pathogenic | Porokeratosis 3, disseminated superficial actinic type, Hyperimmunoglobulin D with periodic fever |
| RS775702104 | Health Risk | Likely pathogenic | Porokeratosis 3, disseminated superficial actinic type, Mevalonic aciduria |
| RS104895295 | Health Risk | Pathogenic | Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria, Porokeratosis 3 |
| RS104895297 | Health Risk | Pathogenic | Hyperimmunoglobulin D with periodic fever, Hyperimmunoglobulin D with periodic fever |
| RS104895299 | Health Risk | Pathogenic | Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria, Porokeratosis 3 |
| RS104895304 | Health Risk | Pathogenic | Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria, Porokeratosis 3 |
| RS104895306 | Health Risk | Pathogenic | Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria, Porokeratosis 3 |
| RS104895307 | Health Risk | Pathogenic | Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria, Porokeratosis 3 |
| RS104895308 | Health Risk | Pathogenic | Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria, Porokeratosis 3 |
| RS104895311 | Health Risk | Pathogenic | Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria, Porokeratosis 3 |
| RS104895315 | Health Risk | Pathogenic | Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria, Porokeratosis 3 |
| RS104895317 | Health Risk | Pathogenic | Mevalonic aciduria, Hyperimmunoglobulin D with periodic fever, Porokeratosis 3 |
| RS104895319 | Health Risk | Pathogenic | Mevalonic aciduria, Hyperimmunoglobulin D with periodic fever, Porokeratosis 3 |
| RS104895322 | Health Risk | Pathogenic | Mevalonic aciduria, Hyperimmunoglobulin D with periodic fever, Porokeratosis 3 |
| RS104895334 | Health Risk | Pathogenic | Mevalonic aciduria, Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria |
| RS104895360 | Health Risk | Pathogenic | Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria, Porokeratosis 3 |
| RS104895370 | Health Risk | Pathogenic | Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria, Porokeratosis 3 |
| RS104895373 | Health Risk | Pathogenic | Mevalonic aciduria, Hyperimmunoglobulin D with periodic fever, Porokeratosis 3 |
| RS11544299 | Health Risk | Pathogenic | Hyperimmunoglobulin D with periodic fever, Porokeratosis 3, disseminated superficial actinic type |
| RS1191193699 | Health Risk | Pathogenic | Porokeratosis 3, disseminated superficial actinic type, Mevalonic aciduria |
| RS121917789 | Health Risk | Pathogenic | Mevalonic aciduria, Mevalonic aciduria |
| RS1241492890 | Health Risk | Pathogenic | Porokeratosis 3, disseminated superficial actinic type, Mevalonic aciduria |
| RS1566147222 | Health Risk | Pathogenic | Mevalonic aciduria, Porokeratosis 3, disseminated superficial actinic type |
| RS1593021917 | Health Risk | Pathogenic | Hyperimmunoglobulin D with periodic fever, Hyperimmunoglobulin D with periodic fever |
| RS1885418521 | Health Risk | Pathogenic | MVK-related disorder, Mevalonic aciduria, Porokeratosis 3 |
| RS1885664895 | Health Risk | Pathogenic | Mevalonic aciduria, Hyperimmunoglobulin D with periodic fever, Porokeratosis 3 |
| RS2136236945 | Health Risk | Pathogenic | Hyperimmunoglobulin D with periodic fever, Porokeratosis 3, disseminated superficial actinic type |
| RS2548616797 | Health Risk | Pathogenic | Porokeratosis 3, disseminated superficial actinic type, Hyperimmunoglobulin D with periodic fever |
| RS2548618895 | Health Risk | Pathogenic | Porokeratosis 3, disseminated superficial actinic type, Hyperimmunoglobulin D with periodic fever |
| RS2548623624 | Health Risk | Pathogenic | Porokeratosis 3, disseminated superficial actinic type, Mevalonic aciduria |
| RS2548625240 | Health Risk | Pathogenic | Mevalonic aciduria, Porokeratosis 3, disseminated superficial actinic type |
| RS2548625278 | Health Risk | Pathogenic | Porokeratosis 3, disseminated superficial actinic type, Mevalonic aciduria |