Mevalonic Aciduria
Description
Mevalonic aciduria (MVA) is a rare, very severe form of mevalonate kinase deficiency (MKD; see this term) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes.
Clinical Features
Top most frequent phenotypes and symptoms related to Mevalonic Aciduria
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
- Microcephaly
- Ataxia
- Nystagmus
- Failure to thrive
- Abnormal facial shape
And another 65 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Alternative names
Mevalonic Aciduria Is also known as mva, complete mevalonate kinase deficiency.
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.Mevalonic Aciduria Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
Non-immune Hydrops Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
RIT1, RPL11, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, SEC23B, SLC17A5, BRAF, SMPD1, SOS1, SOS2, SOX18, UROS, CBL, SHOC2, ALG9 , (...)
View the complete list with 66 more genes
Specificity
2 %
Genes
100 % |
Retinitis Pigmentosa Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
RHO, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, SAG, SEMA4A, SPP2, TULP1, USH2A, CLRN1, BEST1, ARL6, RPGRIP1, CA4, C1QTNF5, CDHR1 , (...)
View the complete list with 72 more genes
Specificity
2 %
Genes
100 % |
MVK Deletion/duplication analysis.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).
MVK
Specificity
100 %
Genes
100 % |
MVK Sequencing.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).
MVK
Specificity
100 %
Genes
100 % |
Ataxia Exome Panel.
By Genetic Services Laboratory University of Chicago (United States).
BCS1L, RTN2, SACS, SCN1A, SCN2A, SCN8A, SCO1, SDHA, SDHD, SLC16A2, SLC17A5, SLC19A2, SLC1A3, SLC20A2, SLC2A1, SLC6A1, SLC9A1, SLC9A6, SNAP25, SOD1 , (...)
View the complete list with 457 more genes
Specificity
1 %
Genes
100 % |
MVK.
By Institute for Human Genetics University Clinic Freiburg (Germany).
MVK
Specificity
100 %
Genes
100 % |
Periodic Fever Syndromes Panel, Sequencing and Deletion/Duplication.
By ARUP Laboratories, Molecular Genetics and Genomics (United States).
TNFRSF1A, LPIN2, NLRP3, ELANE, MEFV, MVK, PSTPIP1
Specificity
15 %
Genes
100 % |
Mevalonic aciduria.
By Clinic of Pediatrics and Adolescent Medicine General University Hospital in Prague and First Faculty of Medicine, Charles University in Prague (Czech Republic).
MVK
Specificity
100 %
Genes
100 % |
You can get up to 73 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
OMIM ORPHANET Rare Disease Symptoms CheckerIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT ANTERIOR SEGMENT DYSGENESIS 4; ASGD4 FAMILIAL THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION STUVE-WIEDEMANN SYNDROME