loading...| Preferred Name |
Mevalonate Kinase Deficiency |
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| Synonyms |
PathwayType: signaling PMID: 24247370 CellType: macrophage PMID: 21760510 Description: Mevalonate kinase deficiency/hyperimmunoglobulin D syndrome (MKD/HIDS; MIM 260920) is an autosomal recessive autoinflammatory disease caused by mutations of the MVK gene. Pathway is built manually using published studies. Organ_System: hematological system CellType: mast cell NodeType: Pathway CellType: dendritic cell Pathway_Author: V. Sobolev ORCID:0000-0003-4779-156X Link: https://mammal-profservices.pathwaystudio.com/app/sd?urn=urn:agi-pathway:uuid-e74716a0-88da-4e29-a893-b7334f667895 PMID: 23110805 Source: Diseases Notes: Headnote: Mevalonate kinase deficiency/hyperimmunoglobulin D syndrome (MKD/HIDS) is an autosomal recessive autoinflammatory disease caused by mutations of the MVK gene, which encodes mevalonate kinase, an enzyme involved in cholesterol and isoprene biosynthesis. The clinical spectrum of MKD ranges from mild forms of disease to lethal forms of mevalonic aciduria based on the level of residual MVK activity. Signaling description: Although it has been suggested that inflammation in MKD is related to elevated mevalonic acid levels, a shortage of nonsterol isoprenoid end products has also been shown to result in a caspase-mediated increase in IL1B production. Outcome effects: As a result of increased IL1B production, most MKD patients have increased levels of IgD (over three times the upper limit of the normal range) both during the fever episodes and under basal conditions; at the same time, 20% of patients show no increase in IgD levels and IgD levels are normal in very young infants with MKD/HIDS. Moreover, the level of IgD is not related to the severity of the disease. Highlighted proteins: Entities with increased expression or activity are highlighted in red, and entities with decreased expression or activity are highlighted in blue. Mutated genes: Mutated gene is shown in white-out style. |
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| ID |
urn:agi-pathway:uuid-e74716a0-88da-4e29-a893-b7334f667895 |
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| database_cross_reference |
PS:PathwayType PS:Description PS:Pathway_Author PS:Link PS:CellType PS:Organ_System PS:PMID PS:NodeType PS:Notes PS:Source |
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| has_exact_synonym |
PathwayType: signaling PMID: 24247370 CellType: macrophage PMID: 21760510 Description: Mevalonate kinase deficiency/hyperimmunoglobulin D syndrome (MKD/HIDS; MIM 260920) is an autosomal recessive autoinflammatory disease caused by mutations of the MVK gene. Pathway is built manually using published studies. Organ_System: hematological system CellType: mast cell NodeType: Pathway CellType: dendritic cell Pathway_Author: V. Sobolev ORCID:0000-0003-4779-156X PMID: 23110805 Source: Diseases Notes: Headnote: Mevalonate kinase deficiency/hyperimmunoglobulin D syndrome (MKD/HIDS) is an autosomal recessive autoinflammatory disease caused by mutations of the MVK gene, which encodes mevalonate kinase, an enzyme involved in cholesterol and isoprene biosynthesis. The clinical spectrum of MKD ranges from mild forms of disease to lethal forms of mevalonic aciduria based on the level of residual MVK activity. Signaling description: Although it has been suggested that inflammation in MKD is related to elevated mevalonic acid levels, a shortage of nonsterol isoprenoid end products has also been shown to result in a caspase-mediated increase in IL1B production. Outcome effects: As a result of increased IL1B production, most MKD patients have increased levels of IgD (over three times the upper limit of the normal range) both during the fever episodes and under basal conditions; at the same time, 20% of patients show no increase in IgD levels and IgD levels are normal in very young infants with MKD/HIDS. Moreover, the level of IgD is not related to the severity of the disease. Highlighted proteins: Entities with increased expression or activity are highlighted in red, and entities with decreased expression or activity are highlighted in blue. Mutated genes: Mutated gene is shown in white-out style. |
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| id |
urn:agi-pathway:uuid-e74716a0-88da-4e29-a893-b7334f667895 |
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| label |
Mevalonate Kinase Deficiency |
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| notation |
uuid-e74716a0-88da-4e29-a893-b7334f667895 |
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| prefLabel |
Mevalonate Kinase Deficiency |
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| treeView |
urn:agi-folder:hereditary_autoinflammatory_diseases urn:agi-folder:m urn:agi-folder:hematological_system |
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| subClassOf |
urn:agi-folder:hereditary_autoinflammatory_diseases urn:agi-folder:m urn:agi-folder:hematological_system |