Mevalonic aciduria

Preferred Label : Mevalonic aciduria;

Symbol : MEVA;

CISMeF acronym : MEVA;

Type : Phenotype, molecular basis known;

Description : Mevalonic aciduria, the first recognized defect in the biosynthesis of cholesterol and isoprenoids, is a consequence of a deficiency of mevalonate kinase (ATP:mevalonate 5-phosphotransferase; EC 2.7.1.36). Mevalonic acid accumulates because of failure of conversion to 5-phosphomevalonic acid, which is catalyzed by mevalonate kinase. Mevalonic acid is synthesized from 3-hydroxy-3-methylglutaryl-CoA, a reaction catalyzed by HMG-CoA reductase (142910). Mevalonic aciduria is characterized by dysmorphology, psychomotor retardation, progressive cerebellar ataxia, and recurrent febrile crises, usually manifesting in early infancy, accompanied by hepatosplenomegaly, lymphadenopathy, arthralgia, and skin rash. The febrile crises are similar to those observed in hyperimmunoglobulinemia D and to periodic fever syndrome (HIDS; 260920), which is also caused by mutation in the MVK gene (summary by Prietsch et al, 2003).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the mevalonate kinase gene (MVK, 251170.0001);

Laboratory abnormalities : Elevated serum creatine kinase; Elevated transaminases; Serum cholesterol low or normal; Elevated leukotriene E(4); Decreased ubiquinone-10; Elevated urinary mevalonic acid;

Prefixed ID : #610377;

Détails

Origin ID

610377;

UMLS CUI

C1959626;

Automatic exact mappings (from CISMeF team)
- ANAVACYM protocol [MeSH Supplementary Concept]
- Elevated urine mevalonic acid [HPO term]
- MEV-A [MeSH concept]
- mevalonate kinase [ORDO Gene]
- mevalonate kinase [HGNC gene]
Currated CISMeF NLP mapping
- Deficiency of mevalonate kinase (disorder) [SNOMED CT concept]
- Mevalonate Kinase Deficiency [NCIt concept]
- Mevalonic aciduria [ICD-11 More detail]
- Mevalonic aciduria [ORDO Disease]
- Mevalonic aciduria [MedDRA Preferred Term]
- Mevalonic aciduria (disorder) [SNOMED CT concept]
- mevalonate kinase deficiency [MeSH Descriptor]
- mevalonic aciduria [DO Concept]
- mevalonic aciduria [Disease (Nov.)]
- mevalonic aciduria [MeSH concept]
DO Cross reference
- mevalonic aciduria [DO Concept]
Genes related to phenotype
- Mevalonate kinase [OMIM gene]
HPO term(s)
- Agenesis of cerebellar vermis [HPO term]
- Anemia [HPO term]
- Arthralgia [HPO term]
- Ataxia [HPO term]
- Attenuation of retinal blood vessels [HPO term]
- Autosomal recessive inheritance [HPO term]
- Blue sclerae [HPO term]
- Cataract [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebral atrophy [HPO term]
- Diarrhea [HPO term]
- Dolichocephaly [HPO term]
- Downslanted palpebral fissures [HPO term]
- Dysarthria [HPO term]
- Edema [HPO term]
- Elevated circulating C-reactive protein concentration [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Elevated erythrocyte sedimentation rate [HPO term]
- Elevated hepatic transaminase [HPO term]
- Elevated urine mevalonic acid [HPO term]
- Failure to thrive [HPO term]
- Failure to thrive in infancy [HPO term]
- Fluctuating hepatomegaly [HPO term]
- Fluctuating splenomegaly [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hepatosplenomegaly [HPO term]
- Hypotonia [HPO term]
- Increased circulating IgD level [HPO term]
- Increased circulating lactate dehydrogenase concentration [HPO term]
- Infantile onset [HPO term]
- Kyphoscoliosis [HPO term]
- Large fontanelles [HPO term]
- Leukocytosis [HPO term]
- Low-set ears [HPO term]
- Lymphadenopathy [HPO term]
- Microcephaly [HPO term]
- Morbilliform rash [HPO term]
- Normocytic hypoplastic anemia [HPO term]
- Nuclear cataract [HPO term]
- Nystagmus [HPO term]
- Optic disc pallor [HPO term]
- Posteriorly rotated ears [HPO term]
- Progressive ataxia [HPO term]
- Progressive cerebellar ataxia [HPO term]
- Psychomotor retardation [HPO term]
- Recurrent infections [HPO term]
- Short stature [HPO term]
- Skin rash [HPO term]
- Thrombocytopenia [HPO term]
- Triangular face [HPO term]
- Underdeveloped nasal alae [HPO term]
- Vomiting [HPO term]
ORDO concept(s)
- Mevalonic aciduria [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mevalonic aciduria [MedDRA Preferred Term]
- Mevalonic aciduria [ICD-11 More detail]
- Mevalonic aciduria (disorder) [SNOMED CT concept]
- mevalonic aciduria [MeSH concept]
- mevalonic aciduria [Disease (Nov.)]
Validated automatic mappings to NTBT
- Mevalonate kinase deficiency [ICD-11 More detail]

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