Last Posted: Feb 04, 2023
- Elevated immunoglobulin D levels in children with PFAPA syndrome.
Kovacs Laszlo, et al. Neuro endocrinology letters 2011 0 (6) 743-6
- Mevalonic aciduria
From NCATS Genetic and Rare Diseases Information Center
- Carrier frequency of the V377I (1129G>A) MVK mutation, associated with Hyper-IgD and periodic fever syndrome, in the Netherlands.
Houten Sander M, et al. European journal of human genetics : EJHG 2003 2 (2) 196-200
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
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