ORPHA:309025
Mevalonate kinase deficiency
Synonyms: MKD
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Infancy
- Status
- active
A rare inborn error of metabolism characterized by a spectrum of presentation ranging from hyperimmunoglobulinemia D with periodic fever (HIDS) to mevalonic aciduria.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mevalonate kinase deficiency | MKD |
| fr | Déficit en mévalonate kinase | |
| de | Mevalonatkinase-Mangel | |
| es | Deficiencia de mevalonato quinasa | Deficiencia de mevalonato cinasa · MKD |
| it | Deficit di mevalonato chinasi | |
| nl | Deficiëntie van mevalonaatkinase | = en |
| pt | Défice de mevalonato quinase | |
| pl | Niedobór kinazy mewalonowej | = en |
| cs | Deficit mevalonátkinázy | = en |
| uk | Дефіцит мевалонаткінази | = en |
| zh | 甲羟戊酸激酶缺乏 | |
| tr | Mevalonat kinaz eksikliği | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 260920 | BTNT | validated | |
| OMIM | 610377 | BTNT | validated | |
| ICD-10 | E88.8 | NTBT | attributed | validated |
| ICD-11 | 5C52.10 | NTBT | index | validated |
| MONDO | 0017708 | E | validated | |
| MeSH | D054078 | E | validated | |
| UMLS | C0342731 | E | validated | |
| MedDRA | 10072221 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (5):
- ORPHA:290842Autoinflammatory syndrome with skin involvement
rare skin diseases - ORPHA:622720Genetic autoinflammatory syndrome with skin involvement
rare genetic diseases - ORPHA:324924Hereditary periodic fever syndrome
rare genetic diseases; rare systemic and rheumatological diseases; rare systemic or rheumatologic diseases of childhood - ORPHA:717874Rare inborn error of metabolism with inflammatory bowel disease
rare gastroenterological diseases; rare genetic diseases; rare transplant-related disorders - ORPHA:79195Sterol biosynthesis disorder
rare developmental anomalies during embryogenesis; rare inborn errors of metabolism; rare genetic diseases
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Genes
0 direct · 2 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| MVK | ORPHA:29Mevalonic aciduria | Disease-causing germline mutation(s) in | Assessed | HGNC:7530 | ENSG00000110921 | 251170 | 12q24.11 | mevalonate kinase | |
| MVK | ORPHA:343Hyperimmunoglobulinemia D with periodic fever | Disease-causing germline mutation(s) in | Assessed | HGNC:7530 | ENSG00000110921 | 251170 | 12q24.11 | mevalonate kinase | 11313769[PMID]_10369262[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 300 cases | Worldwide | Case(s) | Validated | 27142780[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/309025
- This record as JSON: /data/d/309025.json