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Mevalonate Kinase Deficiency

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.
Also Known As:
Hyper IgD Syndrome; Hyper-IgD Syndrome; Hyperimmunoglobulinemia D And Periodic Fever Syndrome; Mevalonic Aciduria; Periodic Fever, Dutch Type; Aciduria, Mevalonic; Hyper IgD Syndromes; Hyper-IgD Syndromes; Kinase Deficiencies, Mevalonate; Kinase Deficiency, Mevalonate; Mevalonate Kinase Deficiencies; Mevalonicacidurias; Syndrome, Hyper-IgD; Hyperimmunoglobulinemia D; Mevalonicaciduria
Networked: 310 relevant articles (10 outcomes, 13 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Familial Mediterranean Fever (Periodic Disease)
2. autosomal dominant familial Periodic fever
3. Cryopyrin-Associated Periodic Syndromes
4. Sweet Syndrome (Acute Febrile Neutrophilic Dermatosis)
5. Gout

Experts

1. Crovella, Sergio: 22 articles (11/2018 - 02/2007)
2. Marcuzzi, Annalisa: 19 articles (01/2021 - 08/2008)
3. Frenkel, Joost: 16 articles (01/2022 - 10/2002)
4. Simon, Anna: 16 articles (01/2022 - 05/2004)
5. Gattorno, Marco: 14 articles (01/2022 - 05/2008)
6. Rigante, Donato: 13 articles (01/2021 - 11/2006)
7. Waterham, Hans R: 13 articles (01/2016 - 10/2002)
8. Tommasini, Alberto: 12 articles (01/2021 - 02/2007)
9. Ozen, Seza: 10 articles (01/2022 - 01/2006)
10. Cantarini, Luca: 9 articles (01/2020 - 08/2011)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Mevalonate Kinase Deficiency:
1. canakinumabFDA Link
2. Interleukin 1 Receptor Antagonist Protein (Anakinra)FDA Link
3. Interleukin-1 (Interleukin 1)IBA
4. ColchicineFDA LinkGeneric
5. Tumor Necrosis Factor-alpha (Tumor Necrosis Factor)IBA
06/01/2021 - "Seventy-one patients with the preliminary diagnosis of cryopyrin-associated periodic fever syndrome (CAPS), mevalonate kinase deficiency (MKD), or tumor necrosis factor-alpha receptor-associated periodic fever syndrome (TRAPS) were included in the study. "
01/30/2017 - "Besides FMF, the other main hereditary AID are tumor necrosis factor-associated periodic fever syndrome (TRAPS), mevalonate kinase deficiency (MKD), and cryopyrin-associated periodic fever syndrome (CAPS). "
01/01/2013 - "In order to understand whether genes implicated in other auto-inflammatory diseases might be involved in the pathogenesis of PFAPA, all variants in the genes causing familial Mediterranean fever (FMF), tumor necrosis factor (TNF) receptor-associated periodic syndrome (TRAPS), and Hyper IgD syndrome were analyzed in children with PFAPA. "
10/01/2008 - "AIDs include a broad number of monogenic [e.g., familial Mediterranean fever (FMF), cryopyrin-associated periodic syndrome (CAPS), mevalonate kinase deficiency (MKD), tumor necrosis factor (TNF)-receptor-associated periodic syndrome (TRAPS)] and multifactorial (e.g., Behçet's syndrome) disorders. "
01/01/2022 - "Monogenic periodic fever syndromes are heterogeneous group of autoinflammatory diseases including distinct syndromes, such as cryopyrin-associated periodic syndrome (CAPS), tumor necrosis factor alpha receptor-associated periodic syndrome (TRAPS), mevalonate kinase deficiency/hyper IgD syndrome (MKD/HIDS), and familial Mediterranean fever (FMF). "
6. Acute-Phase Proteins (Acute-Phase Protein)IBA
7. Tumor Necrosis Factor Receptors (Tumor Necrosis Factor Receptor)IBA
8. Interleukin-1 Receptors (Interleukin 1 Receptor)IBA
01/01/2011 - "Diferential diagnosis includes diseases with similar onset at the neonatal period or infancy: systemic onset juvenile idiopathic athritis, periodic fever associated with mevalonate kinase deficiency, deficiency of IL-1 receptor antagonist (DIRA) and Muckle-Wells syndrome."
01/01/2021 - "If fever is combined with organ-specific sterile inflammatory manifestations the suspicion of autoinflammatory disorders should be considered, and the list of such conditions starting in the neonatal period includes chronic infantile neurological cutaneous articular syndrome, mevalonate kinase deficiency, deficiency of the interleukin-1 receptor antagonist, otulipenia, STING-associated vasculopathy with onset in infancy and Blau syndrome. "
09/01/2016 - "Skin symptoms include the main features of monogenic inflammasomopathies, such as Cryopyrin-Associated Periodic Syndromes (CAPS), Familial Mediterranean Fever (FMF), Schnitzler Syndrome, Hyper-IgD Syndrome (HIDS), PAPA Syndrome, and Deficiency of IL-1 Receptor Antagonist (DIRA). "
01/01/2018 - "There are also case reports revealing vasculitic features in Cryopyrin-Associated Periodic Fever Syndrome (CAPS), Tumor Necrosis Factor Receptor-Associated Periodic Syndrome (TRAPS), Mevalonate Kinase Deficiency (MKD), also known as Hyper IgD syndrome (HIDS), Deficiency of IL-1 Receptor Antagonist (DIRA) and Pyogenic Arthritis, Pyoderma gangrenosum, and Acne (PAPA) patients. "
01/01/2013 - "To date, there are twelve known MAISs: familial Mediterranean fever, tumor necrosis factor receptor-associated periodic syndrome, familial cold urticaria syndrome, Muckle-Wells syndrome, CINCA syndrome, mevalonate kinase deficiency, NLRP12-associated autoinflammatory disorder, Blau syndrome, early-onset sarcoidosis, PAPA syndrome, Majeed syndrome, and deficiency of the interleukin-1 receptor antagonist. "
9. CytokinesIBA
10. Interleukin-1beta (Interleukin 1 beta)IBA

Therapies and Procedures

1. Therapeutics
2. Bone Marrow Transplantation (Transplantation, Bone Marrow)
3. Stem Cell Transplantation
4. Hematopoietic Stem Cell Transplantation
5. Liver Transplantation