KIF1B gene related symptoms and diseases
All the information presented here about the KIF1B gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to KIF1B gene
Symptoms // Phenotype | % Cases |
---|---|
Weight loss | Common - Between 50% and 80% cases |
Paraganglioma | Common - Between 50% and 80% cases |
Elevated urinary dopamine | Common - Between 50% and 80% cases |
Neoplasm | Uncommon - Between 30% and 50% cases |
Hypertension associated with pheochromocytoma | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with KIF1B gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Flushing
- Sinus tachycardia
- Cranial nerve compression
- Recurrent paroxysmal headache
- Pulsatile tinnitus
- Episodic paroxysmal anxiety
- Adrenal pheochromocytoma
- Panic attack
And 88 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to KIF1B gene
Here you will find a list of rare diseases related to the KIF1B. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
PHEOCHROMOCYTOMA
Alternate names
PHEOCHROMOCYTOMA Is also known as pheochromocytoma, susceptibility to
Description
Pheochromocytomas are catecholamine-secreting tumors that usually arise within the adrenal medulla. Approximately 10% arise in extraadrenal sympathetic ganglia, and are referred to as 'paragangliomas.' Approximately 10% are malignant, and approximately 10% are hereditary (Maher and Eng, 2002; Dluhy, 2002).Bolande (1974) introduced the concept and designation of the neurocristopathies, and identified 'simple,' including pheochromocytoma and medullary carcinoma of the thyroid, and 'complex' neurocristopathies and neurocristopathic syndromes, including NF1 and MEN2.Knudson and Strong (1972) applied Knudson's 2-mutation theory to pheochromocytoma (see discussion in {180200}) and concluded that it fits.Maher and Eng (2002) reviewed the clinical entities and genes associated with pheochromocytoma.
Most common symptoms of PHEOCHROMOCYTOMA
- Neoplasm
- Hypertension
- Tremor
- Fatigue
- Congestive heart failure
More info about PHEOCHROMOCYTOMA
AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2A1
Alternate names
AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2A1 Is also known as charcot-marie-tooth disease, neuronal, type 2a1, hmsn2a1, charcot-marie-tooth neuropathy, type 2a1, hmsn iia1, cmt2a1, charcot-marie-tooth disease, axonal, autosomal dominant, type 2a1, hereditary motor and sensory neuropathy iia1
Description
Autosomal dominant Charcot-Marie-Tooth disease type 2A1 (CMT2A1) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2A presents with a more prominent muscle weakness in lower than upper limbs and frequent postural tremor.
Most common symptoms of AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2A1
- Muscle weakness
- Peripheral neuropathy
- Areflexia
- Hyporeflexia
- Pes cavus
More info about AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2A1
NEUROBLASTOMA
Description
Neuroblastoma is a malignant tumor of neural crest cells, the cells that give rise to the sympathetic nervous system, which is observed in children.
Most common symptoms of NEUROBLASTOMA
- Ataxia
- Neoplasm
- Failure to thrive
- Pain
- Anemia
More info about NEUROBLASTOMA
HEREDITARY PHEOCHROMOCYTOMA-PARAGANGLIOMA
Alternate names
HEREDITARY PHEOCHROMOCYTOMA-PARAGANGLIOMA Is also known as familial pheochromocytoma-paraganglioma
Description
Hereditary paraganglioma-pheochromocytomas (PGL/PCC) are rare neuroendocrine tumors represented by paragangliomas (occurring in any paraganglia from the skull base to the pelvic floor) and pheochromocytomas (adrenal medullary paragangliomas; see this term).
Most common symptoms of HEREDITARY PHEOCHROMOCYTOMA-PARAGANGLIOMA
- Tremor
- Fatigue
- Congestive heart failure
- Weight loss
- Conductive hearing impairment
More info about HEREDITARY PHEOCHROMOCYTOMA-PARAGANGLIOMA
SOURCES: ORPHANET
Search interest in KIF1B
Potential gene panels for KIF1B gene
MitoMet®Plus aCGH Analysis Panel
By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65
More info about this panelCharcot-Marie-Tooth Hereditary Neuropathy Panel Panel
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Charcot-Marie-Tooth Hereditary Neuropathy Panel that also includes the following genes: SBF1 SLC12A6 SPG11 SURF1 TFG VCP YARS PRX BSCL2 GDAP1
More info about this panelCharcot-Marie-Tooth Syndrome Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Charcot-Marie-Tooth Syndrome that also includes the following genes: SPTLC1 YARS PRX BSCL2 GDAP1 KIF1B LITAF FIG4 MFN2 TRPV4
More info about this panelHereditary Pheochromocytoma and Paraganglioma Panel Panel
By Genetic Services Laboratory University of Chicago Hereditary Pheochromocytoma and Paraganglioma Panel that also includes the following genes: SDHA SDHB SDHC SDHD EGLN1 VHL KIF1B SDHAF2 TMEM127 EPAS1
More info about this panelAtaxia Exome Panel Panel
By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2
More info about this panelCharcot Marie Tooth Panel Panel
By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" Charcot Marie Tooth Panel that also includes the following genes: SPTLC1 TTR PRX GDAP1 KIF1B LITAF FIG4 MFN2 TRPV4 FGD4
More info about this panelCharcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies, PMP22 Deletion/Duplication with Reflex to Sequencing Panel Panel
By ARUP Laboratories, Molecular Genetics and Genomics Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies, PMP22 Deletion/Duplication with Reflex to Sequencing Panel that also includes the following genes: SBF1 SCN9A SLC12A6 SOX10 ATL1 SPTLC1 SPTLC2 TFG YARS PRX
More info about this panelCharcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies Panel, Sequencing Panel
By ARUP Laboratories, Molecular Genetics and Genomics Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies Panel, Sequencing that also includes the following genes: SBF1 SCN9A SLC12A6 SOX10 ATL1 SPTLC1 SPTLC2 TFG YARS PRX
More info about this panelKIF1B. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the KIF1B gene.
More info about this panelHereditary peripheral neuropathies, including Charcot-Marie-Tooth disease (NGS panel for 74 genes) Panel
By CGC Genetics Hereditary peripheral neuropathies, including Charcot-Marie-Tooth disease (NGS panel for 74 genes) that also includes the following genes: SBF1 SCN11A SCN9A DST SLC12A6 SOX10 ATL1 SPTLC1 SPTLC2 TWNK
More info about this panelCharcot-Marie-Tooth disease type 2A1 (CMT2A1, sequence analysis of KIF1B gene) Panel
By CGC Genetics
This panel specifically test the KIF1B gene.
More info about this panelCharcot-Marie-Tooth disease (NGS panel for 43 genes) Panel
By CGC Genetics Charcot-Marie-Tooth disease (NGS panel for 43 genes) that also includes the following genes: SBF1 YARS PRX GDAP1 TRIM2 KIF1B LITAF FIG4 MFN2 TRPV4
More info about this panelPheochromocytoma and paraganglioma (NGS panel for 16 genes) Panel
By CGC Genetics Pheochromocytoma and paraganglioma (NGS panel for 16 genes) that also includes the following genes: SDHA SDHB SDHC SDHD EGLN1 VHL KIF1B SDHAF2 TMEM127 FH
More info about this panelPheochromocytoma and paraganglioma (NGS panel for 16 genes) Panel
By CGC Genetics Pheochromocytoma and paraganglioma (NGS panel for 16 genes) that also includes the following genes: SDHA SDHB SDHC SDHD EGLN1 VHL KIF1B SDHAF2 TMEM127 FH
More info about this panelCancer Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Cancer Sequencing Panel with CNV Detection that also includes the following genes: RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4
More info about this panelHereditary Neuroblastoma via KIF1B Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the KIF1B gene.
More info about this panelNeuroblastoma Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Neuroblastoma Sequencing Panel with CNV Detection that also includes the following genes: KIF1B ALK PHOX2B
More info about this panelCharcot-Marie-Tooth disease Deletion / Duplication panel Panel
By Connective Tissue Gene Tests Charcot-Marie-Tooth disease Deletion / Duplication panel that also includes the following genes: SBF1 TFG YARS PRX BSCL2 GDAP1 TRIM2 KIF1B LITAF FIG4
More info about this panelCharcot-Marie-Tooth disease NGS panel Panel
By Connective Tissue Gene Tests Charcot-Marie-Tooth disease NGS panel that also includes the following genes: SBF1 TFG YARS PRX BSCL2 GDAP1 TRIM2 KIF1B LITAF FIG4
More info about this panelCharcot-Marie-Tooth disease Comprehensive panel Panel
By Connective Tissue Gene Tests Charcot-Marie-Tooth disease Comprehensive panel that also includes the following genes: SBF1 TFG YARS PRX BSCL2 GDAP1 TRIM2 KIF1B LITAF FIG4
More info about this panelCharcot Marie Tooth Type 2 Panel Panel
By FirmaLab Charcot Marie Tooth Type 2 Panel that also includes the following genes: YARS GDAP1 KIF1B MFN2 TRPV4 AARS MED25 DNM2 HSPB8 GARS
More info about this panelCMT2A1 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the KIF1B gene.
More info about this panelComprehensive mitochondrial disorders panel Panel
By Centogene AG - the Rare Disease Company Comprehensive mitochondrial disorders panel that also includes the following genes: RNASEL BCS1L MRPL3 SARDH SCO1 SCO2 SCP2 SDHA SDHB SDHC
More info about this panelAllNeuro panel Panel
By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1
More info about this panelNuclear encoded Mitochondriopathies Panel Panel
By CeGaT GmbH Nuclear encoded Mitochondriopathies Panel that also includes the following genes: RMRP BCS1L MRPL3 SACS SCO1 SCO2 SDHA SDHB SDHC SDHD
More info about this panelCharcot-Marie-Tooth and Sensory Neuropathies Panel Panel
By CeGaT GmbH Charcot-Marie-Tooth and Sensory Neuropathies Panel that also includes the following genes: SBF1 SCN10A SCN11A SCN9A DST SLC12A6 SOX10 ATL1 SPTLC1 SPTLC2
More info about this panelSingle gene testing KIF1B Panel
By CeGaT GmbH
This panel specifically test the KIF1B gene.
More info about this panelCharcot-Marie-Tooth Disease Panel
By Asper Biogene Asper Biogene LLC Charcot-Marie-Tooth Disease that also includes the following genes: SBF1 SCN9A SPTLC1 SPTLC2 SURF1 TFG VCP YARS PRX SLC5A7
More info about this panelCHARCOT- MARIE TOOTH Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases CHARCOT- MARIE TOOTH that also includes the following genes: YARS PRX BSCL2 GDAP1 KIF1B LITAF FIG4 MFN2 TRPV4 FGD4
More info about this panelONCOLOGY, PANEL Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases ONCOLOGY, PANEL that also includes the following genes: BLM SDHA SDHB SDHC SDHD BMPR1A BRAF BRCA1 BRCA2 SMARCA4
More info about this panelHereditary Neuropathies: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hereditary Neuropathies: Sequencing Panel that also includes the following genes: SACS SCN9A SLC12A6 SLC1A3 SPG11 ATL1 SPAST SPG7 SPTBN2 SPTLC1
More info about this panelHereditary Neuropathies: Deletion/Duplication Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hereditary Neuropathies: Deletion/Duplication Panel that also includes the following genes: SACS SCN9A SLC12A6 SLC1A3 SPG11 ATL1 SPAST SPG7 SPTBN2 SPTLC1
More info about this panelHereditary Neuropathies NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Hereditary Neuropathies NGS Panel that also includes the following genes: SCN9A ATL1 SPTLC2 TTR YARS PRX GDAP1 KIF1B LITAF MFN2
More info about this panelHereditary Cancer NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Hereditary Cancer NGS Panel that also includes the following genes: ROBO2 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1
More info about this panelParaganglioma-Pheochromocytomas NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Paraganglioma-Pheochromocytomas NGS Panel that also includes the following genes: SDHA SDHB SDHC SDHD EGLN1 VHL KIF1B SDHAF2 TMEM127 MAX
More info about this panelNuclear-Mito NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Nuclear-Mito NGS Panel that also includes the following genes: RNASEL BCS1L RPL35A MRPL3 RYR1 RYR2 SACS ACSM3 SARDH ATXN7
More info about this panelCharcot Marie Tooth Disease Extended NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Charcot Marie Tooth Disease Extended NGS Panel that also includes the following genes: SCN9A SLC12A6 ATL1 SPTLC1 SPTLC2 TTR PRX WNK1 BSCL2 GDAP1
More info about this panelKIF1B Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the KIF1B gene.
More info about this panelComprehensive Cancer Panel Panel
By Fulgent Genetics Fulgent Genetics Comprehensive Cancer Panel that also includes the following genes: ROBO2 RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2
More info about this panelCharcot-Marie-Tooth Neuropathy Panel Panel
By Blueprint Genetics Charcot-Marie-Tooth Neuropathy Panel that also includes the following genes: SACS SBF1 SCN11A SCN9A DST SLC12A6 SPG11 ATL1 SPTLC1 SPTLC2
More info about this panelCharcot-Marie-Tooth neuropathy type 2A1 Panel
By Bioarray
This panel specifically test the KIF1B gene.
More info about this panelCHARCOT-MARIE-TOOTH DISEASE TYPE 2A1 Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the KIF1B gene.
More info about this panelCHARCOT-MARIE-TOOTH : NGS PANEL Panel
By Laboratorio de Genetica Clinica SL CHARCOT-MARIE-TOOTH : NGS PANEL that also includes the following genes: YARS PRX BSCL2 GDAP1 KIF1B LITAF FIG4 MFN2 TRPV4 FGD4
More info about this panelPHEOCHROMOCYTOMA-PARAGANGLIOMA NGS PANEL Panel
By Laboratorio de Genetica Clinica SL PHEOCHROMOCYTOMA-PARAGANGLIOMA NGS PANEL that also includes the following genes: SDHA SDHB SDHC SDHD VHL KIF1B SDHAF2 TMEM127 EPAS1 FH
More info about this panelCharcot-Marie-Tooth neuropathy axonal autosomal dominant panel Panel
By LifeLabs Genetics Charcot-Marie-Tooth neuropathy axonal autosomal dominant panel that also includes the following genes: SLC12A6 YARS ARHGEF10 GDAP1 KIF1B MFN2 TRPV4 AARS MED25 DYNC1H1
More info about this panelCharcot-Marie-Tooth Disease Type 2A1 , Sequencing KIF1B Gene Panel
By Reference Laboratory Genetics
This panel specifically test the KIF1B gene.
More info about this panelHereditary Peripheral Neuropathy , Panel Massive Sequencing (NGS) 31 Genes Panel
By Reference Laboratory Genetics Hereditary Peripheral Neuropathy , Panel Massive Sequencing (NGS) 31 Genes that also includes the following genes: SLC12A6 YARS PRX GDAP1 KIF1B LITAF FIG4 MFN2 TRPV4 FGD4
More info about this panelCharcot-Marie-Tooth Disease, Panel Massive Sequencing (NGS) 32 Genes Panel
By Reference Laboratory Genetics Charcot-Marie-Tooth Disease, Panel Massive Sequencing (NGS) 32 Genes that also includes the following genes: YARS PRX BSCL2 GDAP1 KIF1B LITAF FIG4 MFN2 TRPV4 FGD4
More info about this panelMotor Neuron Disorder and Related Diseases , Panel Massive Sequencing (NGS) 49 Genes Panel
By Reference Laboratory Genetics Motor Neuron Disorder and Related Diseases , Panel Massive Sequencing (NGS) 49 Genes that also includes the following genes: SMN1 SMN2 UBA1 VCP YARS PRX BSCL2 GDAP1 SLC52A3 KIF1B
More info about this panelCharcot-Marie-Tooth Disease Type 2 , Panel Massive Sequencing (NGS) 20 Genes Panel
By Reference Laboratory Genetics Charcot-Marie-Tooth Disease Type 2 , Panel Massive Sequencing (NGS) 20 Genes that also includes the following genes: GDAP1 KIF1B MFN2 TRPV4 AARS LRSAM1 MED25 DYNC1H1 DNM2 HSPB8
More info about this panelNeuroblastoma , Panel Massive Sequencing (NGS) 4 Genes Panel
By Reference Laboratory Genetics Neuroblastoma , Panel Massive Sequencing (NGS) 4 Genes that also includes the following genes: KIF1B ALK NME1 PHOX2B
More info about this panelTempus xT assay Panel
By Tempus Labs, Inc. Tempus xT assay that also includes the following genes: BCL6 RIT1 BCL7A BCR ROS1 RPL5 RPS15 RPS6KB1 RUNX1 RXRA
More info about this panelTempus xO assay Panel
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
More info about this panelCEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel that also includes the following genes: RNASEL RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2
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