Kufor-rakeb Syndrome
Description
Kufor-Rakeb syndrome (KRS) is a rare genetic neurodegenerative disorder characterized by juvenile Parkinsonism, pyramidal degeneration (dystonia), supranuclear palsy, and cognitive impairment.
Clinical Features
Top most frequent phenotypes and symptoms related to Kufor-rakeb Syndrome
- Intellectual disability
- Seizures
- Ataxia
- Nystagmus
- Spasticity
- Cognitive impairment
- Peripheral neuropathy
- Hyperreflexia
- Dysarthria
- Fever
And another 77 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
Kufor-rakeb Syndrome Is also known as parkinson disease 9, autosomal recessive, juvenile-onset, park9, pallidopyramidal degeneration with supranuclear upgaze paresis and dementia, krppd.
Researches and researchers
Doctors, researchs, and experts related to Kufor-rakeb Syndrome extracted from public data.
Kufor-rakeb Syndrome Experts map
Current Researchs and researchers
-
BORDEAUX — Dr Benjamin DEHAY
Investigator of research project
-
Institution/s:
— Institut des Maladies Neurodégénératives - UMR5293 -
Research area/topic::
Physiopathological characterization of a rat model of Kufor-Rakeb syndrome
-
Institution/s:
Kufor-rakeb Syndrome Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
Epilepsy Advanced Sequencing and CNV Evaluation - Neuronal Ceroid Lipofuscinosis.
By Athena Diagnostics Inc (United States).
DNAJC5, TPP1, CLN3, CLN5, CLN6, CLN8, KCTD7, CTSD, CTSF, MFSD8, ATP13A2, GRN, PPT1
Specificity
8 %
Genes
100 % |
Epilepsy Advanced Sequencing and CNV Evaluation.
By Athena Diagnostics Inc (United States).
SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN8A, SCN9A, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMC1A, KDM5C, SMS , (...)
View the complete list with 214 more genes
Specificity
1 %
Genes
100 % |
Lysosomal Storage Disease Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
SGSH, SLC17A5, SMPD1, TCF4, MCOLN1, NPC2, ADAMTSL2, DNAJC5, SUMF1, TPP1, CLN3, CLN5, CLN6, CLN8, DYM, ANTXR2, COL11A2, PEX26, GNE, CTNS , (...)
View the complete list with 54 more genes
Specificity
2 %
Genes
100 % |
Hereditary Spastic Paraplegia Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
RTN2, SACS, SLC16A2, SLC2A1, KDM5C, SPG11, ATL1, SPAST, SPG7, TFG, ACOX1, TREX1, UCHL1, VAMP1, ERLIN2, CAPN1, BSCL2, SAMHD1, PNPLA6, ERLIN1 , (...)
View the complete list with 59 more genes
Specificity
2 %
Genes
100 % |
Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).
SQSTM1, PANK2, TRIM32, FA2H, CP, C19orf12, DCAF17, WDR45, COASY, ATP13A2, FTL, FUCA1, KIF1A, PLA2G6
Specificity
8 %
Genes
100 % |
Dystonia.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).
SCP2, SGCE, SLC20A2, SLC2A1, SLC6A3, SPR, SUCLA2, SUOX, TAF1, TH, TIMM8A, TREX1, MCOLN1, FBXO7, CACNA1A, NPC2, PINK1, PANK2, SAMHD1, APTX , (...)
View the complete list with 57 more genes
Specificity
2 %
Genes
100 % |
Movement Disorders Panel.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).
SCP2, SGCE, SLC20A2, SLC2A1, SLC6A3, SNCA, SPR, SQSTM1, SUCLA2, SUOX, TAF1, TH, TIMM8A, TREX1, MCOLN1, VPS35, FBXO7, CACNA1A, NPC2, PINK1 , (...)
View the complete list with 72 more genes
Specificity
2 %
Genes
100 % |
Parkinson's Disease.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).
SLC6A3, SNCA, TAF1, TH, VPS35, FBXO7, PINK1, PARK7, LRRK2, CSF1R, DCTN1, ATP13A2, GBA, GCH1, MAPT, ATP1A3, PRKN, PLA2G6, POLG
Specificity
6 %
Genes
100 % |
You can get up to 84 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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