mevalonate kinase deficiency

Preferred Label : mevalonate kinase deficiency;

MeSH definition : Autosomal recessive disorder caused by mutations in the mevalonate kinase gene. Because of the mutations cholesterol biosynthesis is disrupted and MEVALONIC ACID accumulates. It is characterized by a range of symptoms, including dysmorphic FACIES, psychomotor retardation, CATARACT, hepatosplenomegaly, CEREBELLAR ATAXIA, elevated IMMUNOGLOBULIN D, and recurrent febrile crises with FEVER; LYMPHADENOPATHY; ARTHRALGIA; EDEMA; and rash.;

MeSH synonym : kinase deficiencies, mevalonate; kinase deficiency, mevalonate; mevalonate kinase deficiencies;

CISMeF synonym : syndromes, Hyper-IgD;

MeSH hyponym : mevalonic aciduria; Aciduria, Mevalonic; Mevalonicaciduria; Mevalonicacidurias;

Related MeSH term : hyperimmunoglobulinemia D; Hyper IgD Syndrome; Hyper IgD Syndromes; Periodic Fever, Dutch Type; Hyper-IgD Syndrome; Hyper-IgD Syndromes; Syndrome, Hyper-IgD; Hyperimmunoglobulinemia D And Periodic Fever Syndrome;

Wikipedia link : https://en.wikipedia.org/wiki/Mevalonate kinase deficiency;

Details

Origin ID

D054078;

UMLS CUI

C0342731;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Elevated urine mevalonic acid [HPO term]
- Hyper IgD syndrome [MedDRA Preferred Term]
- Hyper-igd syndrome [OMIM Phenotype]
- Hyperimmunoglobulin D with periodic fever (finding) [SNOMED CT concept]
- Hyperimmunoglobulinemia D with periodic fever [ORDO Disease]
- MVK wt Allele [NCIt concept]
- Macedonian Language [NCIt concept]
- North Macedonia [NCIt 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]
- Mevalonate kinase deficiency [MedDRA Preferred Term]
- Mevalonate kinase deficiency [ICD-11 More detail]
- Mevalonate kinase deficiency [ORDO Disease]
- Mevalonic aciduria [MedDRA Preferred Term]
- Mevalonic aciduria [ORDO Disease]
- Mevalonic aciduria [OMIM Phenotype]
- Mevalonic aciduria (disorder) [SNOMED CT concept]
- mevalonate kinase deficiency [Disease (Nov.)]
- mevalonic aciduria [DO Concept]
DO Cross reference
- mevalonic aciduria [DO Concept]
Has phenotype(s) (HPO)
- Progressive ataxia [HPO term]
Manual NTBT mappings (CISMeF)
- Metabolic disease with cataract [ORDO Disease]
- Periodic fever syndrome [ORDO Disease]
- Sterol biosynthesis disorder [ORDO Disease]
ORDO relation(s)
- Mevalonic aciduria [ORDO Disease]
Record concept(s)
- hyperimmunoglobulinemia D [MeSH concept]
- mevalonate kinase deficiency [MeSH concept]
- mevalonic aciduria [MeSH concept]
See also inter- (CISMeF)
- Hyperimmunoglobulinemia D with periodic fever [ORDO Disease]
- hyperimmunoglobulinemia D syndrome [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deficiency of mevalonate kinase (disorder) [SNOMED CT concept]
- Mevalonate Kinase Deficiency [NCIt concept]
- Mevalonate kinase deficiency [MedDRA Preferred Term]
- Mevalonate kinase deficiency [ORDO Disease]
- Mevalonate kinase deficiency [ICD-11 More detail]
- mevalonate kinase deficiency [Disease (Nov.)]
Validated automatic mappings to BTNT
- Mevalonate kinase deficiency with recurrent fever [ICD-11 More detail]
- Mevalonic aciduria [ICD-11 More detail]
- mevalonic aciduria [Disease (Nov.)]

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