Mevalonate Kinase Deficiency

Preferred Label : Mevalonate Kinase Deficiency;

NCIt synonyms : Mevalonic Aciduria;

NCIt related terms : Hyperimmunoglobulin D with Periodic Fever Syndrome; HIDS; MKD;

NCIt definition : A very rare autosomal recessive disorder of cholesterol biosynthesis. It is caused by a deficiency of the enzyme mevalonate kinase, resulting in the accumulation of mevalonic acid in the urine. Signs and symptoms include psychomotor retardation, ataxia, recurrent fevers, skin rash, hepatosplenomegaly, and lymphadenopathy.;

Alternative definition : NICHD: An autoinflammatory disease caused by mutations in the mevalonate kinase (MVK) gene leading to partial deficiency. It is characterized by attacks of inflammation with fever, rash, lymphadenopathy, splenomegaly and serositis along with increased acute phase reactants. Some patients exhibit elevations in immunoglobulin D (hyperimmunoglobulin D). This disease is distinct from mevalonic aciduria caused by complete deficiency of MVK.;

Détails

Origin ID

C84890;

UMLS CUI

C0342731;

Automatic exact mappings (from CISMeF team)
- Elevated urine mevalonic acid [HPO term]
- Hyper-igd syndrome [OMIM Phenotype]
- Hyperimmunoglobulinemia D with periodic fever [ORDO Disease]
- Hyperimmunoglobulinemia D with periodic fever (disorder) [SNOMED CT concept]
- mevalonate kinase [ORDO Gene]
- mevalonate kinase [HGNC gene]
Currated CISMeF NLP mapping
- Deficiency of mevalonate kinase (disorder) [SNOMED CT concept]
- Mevalonate kinase deficiency [MedDRA Preferred Term]
- Mevalonate kinase deficiency [ICD-11 More detail]
- Mevalonate kinase deficiency [ORDO Disease]
- Mevalonic aciduria [ORDO Disease]
- Mevalonic aciduria [MedDRA Preferred Term]
- Mevalonic aciduria [OMIM Phenotype]
- Mevalonic aciduria (disorder) [SNOMED CT concept]
- mevalonate kinase deficiency [Disease (Nov.)]
- mevalonate kinase deficiency [MeSH Descriptor]
- mevalonate kinase deficiency [MeSH concept]
- mevalonic aciduria [DO Concept]
- mevalonic aciduria [MeSH concept]
DO Cross reference
- mevalonic aciduria [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deficiency of mevalonate kinase (disorder) [SNOMED CT concept]
- Mevalonate kinase deficiency [MedDRA Preferred Term]
- Mevalonate kinase deficiency [ORDO Disease]
- Mevalonate kinase deficiency [ICD-11 More detail]
- mevalonate kinase deficiency [Disease (Nov.)]
- mevalonate kinase deficiency [MeSH concept]
- mevalonate kinase deficiency [MeSH Descriptor]
Validated automatic mappings to BTNT
- Mevalonate kinase deficiency with recurrent fever [ICD-11 More detail]
- Mevalonic aciduria [ICD-11 More detail]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Pediatric Rheumatology Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- MVK Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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