ORPHA:29
Mevalonic aciduria
Synonyms: Complete mevalonate kinase deficiency · MVA
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
A rare, severe form of mevalonate kinase deficiency (MKD) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mevalonic aciduria | Complete mevalonate kinase deficiency · MVA |
| fr | Acidurie mévalonique | AMV · Déficit complet en mévalonate kinase |
| de | Mevalonazidurie | MVA · Mevalonatkinase-Mangel, vollständiger |
| es | Aciduria mevalónica | Deficiencia total de mevalonato quinasa · MVA |
| it | Aciduria mevalonica | Deficit completo di mevalonato chinasi · MVA |
| nl | Mevalonacidurie | MVA · Volledige deficiëntie van mevalonaatkinase |
| pt | Acidúria mevalónica | Deficiência de mevalonato cinase |
| pl | Kwasica mewalonianowa | Całkowity Niedobór kinazy mewalonianowej · MVA |
| cs | Mevalonová acidurie | Úplný deficit mevalonátkinázy · MVA |
| uk | Мевалонова ацидурія | Повна недостатність мевалонаткінази · MVA |
| zh | 甲羟戊酸尿症 | 完全性甲羟戊酸激酶缺乏症 |
| tr | Mevalonik asitüri | MVA · Tam mevalonat kinaz eksikliği |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 610377 | E | validated | |
| ICD-10 | E88.8 | NTBT | attributed | validated |
| ICD-11 | 5C52.10 | NTBT | index | validated |
| MONDO | 0012481 | E | validated | |
| UMLS | C1959626 | E | validated | |
| GARD | 3588 | E | validated | |
| MedDRA | 10072219 | 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 (3):
- ORPHA:98644Metabolic disease with cataract
rare genetic diseases; rare ophthalmic disorders - ORPHA:309025Mevalonate kinase deficiency
rare developmental anomalies during embryogenesis; rare inborn errors of metabolism; rare gastroenterological diseases; rare genetic diseases; rare skin diseases; rare systemic and rheumatological diseases; rare systemic or rheumatologic diseases of childhood; rare transplant-related disorders - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MVK | Disease-causing germline mutation(s) in | Assessed | HGNC:7530 | ENSG00000110921 | 251170 | 12q24.11 | mevalonate kinase |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 30 cases | Worldwide | Case(s) | Validated | 16722536[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
17 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0000268 | Dolichocephaly | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0001263 | Global developmental delay | |
| HP:0001252 | Hypotonia | |
| HP:0001249 | Intellectual disability | |
| HP:0000239 | Large fontanelles | |
| HP:0000252 | Microcephaly | |
| HP:0001250 | Seizure | |
| HP:0004322 | Short stature | |
| HP:0001744 | Splenomegaly | |
| HP:0000325 | Triangular face | |
| Frequent (79-30%) | ||
| HP:0001251 | Ataxia | |
| HP:0000592 | Blue sclerae | |
| HP:0000518 | Cataract | |
| HP:0000358 | Posteriorly rotated ears | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/29
- This record as JSON: /data/d/29.json