| Descriptor English: | Mevalonate Kinase Deficiency | ||||||
| Descriptor Spanish: |
Deficiencia de Mevalonato Quinasa
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| Descriptor Portuguese: | Deficiência de Mevalonato Quinase | ||||||
| Descriptor French: | Déficit en mévalonate kinase | ||||||
| Entry term(s): |
Aciduria, Mevalonic Hyper IgD Syndrome Hyper IgD Syndromes Hyper-IgD Syndrome Hyper-IgD Syndromes Hyperimmunoglobulinemia D Hyperimmunoglobulinemia D And Periodic Fever Syndrome Kinase Deficiencies, Mevalonate Kinase Deficiency, Mevalonate Mevalonate Kinase Deficiencies Mevalonic Aciduria Mevalonicaciduria Mevalonicacidurias Periodic Fever, Dutch Type Syndrome, Hyper-IgD |
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| Tree number(s): |
C10.228.140.163.100.593 C15.378.147.542.319 C16.320.382.750 C16.320.565.189.593 C16.320.565.663.430 C18.452.132.100.593 C18.452.648.189.593 C18.452.648.663.430 C20.683.460.319 |
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| RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D054078 | ||||||
| Scope note: | 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. |
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| Allowable Qualifiers: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
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| Public MeSH Note: | 2008 |
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| History Note: | 2008 |
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| DeCS ID: | 52588 | ||||||
| Unique ID: | D054078 | ||||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
| Date Established: | 2008/01/01 | ||||||
| Date of Entry: | 2007/07/09 | ||||||
| Revision Date: | 2015/06/08 |
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Mevalonate Kinase Deficiency
- Preferred
Mevalonic Aciduria
- Narrower
Hyperimmunoglobulinemia D
- Related but not broader or narrower
| Concept UI |
M0501212 |
| Scope note | 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. |
| Preferred term | Mevalonate Kinase Deficiency |
| Entry term(s) |
Kinase Deficiencies, Mevalonate Kinase Deficiency, Mevalonate Mevalonate Kinase Deficiencies |
| Concept UI |
M0501213 |
| Preferred term | Mevalonic Aciduria |
| Entry term(s) |
Aciduria, Mevalonic Mevalonicaciduria Mevalonicacidurias |
| Concept UI |
M0501214 |
| Preferred term | Hyperimmunoglobulinemia D |
| Entry term(s) |
Hyper IgD Syndrome Hyper IgD Syndromes Hyper-IgD Syndrome Hyper-IgD Syndromes Hyperimmunoglobulinemia D And Periodic Fever Syndrome Periodic Fever, Dutch Type Syndrome, Hyper-IgD |
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