NTRK1 gene related symptoms and diseases
All the information presented here about the NTRK1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,HGNC,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to NTRK1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Pain | Common - Between 50% and 80% cases |
| Neoplasm | Uncommon - Between 30% and 50% cases |
| Follicular thyroid carcinoma | Uncommon - Between 30% and 50% cases |
| Decreased number of small peripheral myelinated nerve fibers | Uncommon - Between 30% and 50% cases |
| Pain insensitivity | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with NTRK1 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Poor wound healing
- Self-mutilation
- Episodic fever
- Impaired pain sensation
- Osteomyelitis
- Anhidrosis
- Keratitis
- Sensory neuropathy
And 74 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to NTRK1 gene
Here you will find a list of rare diseases related to the NTRK1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
FAMILIAL MEDULLARY THYROID CARCINOMA
Alternate names
FAMILIAL MEDULLARY THYROID CARCINOMA Is also known as familial mtc
More info about FAMILIAL MEDULLARY THYROID CARCINOMA
SOURCES: ORPHANET
THYROID CARCINOMA, FAMILIAL MEDULLARY; MTC
Alternate names
THYROID CARCINOMA, FAMILIAL MEDULLARY; MTC Is also known as mtc1, fmtc
Description
Medullary thyroid carcinoma (MTC) is a malignant tumor of the calcitonin (OMIM )-secreting parafollicular C cells of the thyroid, and occurs sporadically or as a component of the multiple endocrine neoplasia (MEN) type 2 (see {171400})/familial medullary thyroid carcinoma (FMTC) syndromes (summary by Abu-Amero et al., 2006). Thyroid cancer derived from follicular epithelial cells is referred to as nonmedullary thyroid cancer and comprises several subtypes; see {188550}.
Most common symptoms of THYROID CARCINOMA, FAMILIAL MEDULLARY; MTC
- Neoplasm
- Pain
- Respiratory distress
- Hypothyroidism
- Carcinoma
More info about THYROID CARCINOMA, FAMILIAL MEDULLARY; MTC
SOURCES: OMIM
HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 5
Alternate names
HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 5 Is also known as hsan v, insensitivity to pain, congenital, hsan5, congenital insensitivity to pain and thermal analgesia, hereditary sensory and autonomic neuropathy type v
Description
Hereditary sensory and autonomic neuropathy, type 5 (HSAN5) is characterized by loss of pain perception and impaired temperature sensitivity, in the absence of any other major neurological anomalies.
Most common symptoms of HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 5
- Intellectual disability
- Pain
- Peripheral neuropathy
- Abnormality of the dentition
- Intellectual disability, mild
More info about HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 5
HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 4
Alternate names
HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 4 Is also known as hsan iv, hsan4, cip-anhidrosis syndrome, neuropathy, congenital sensory, with anhidrosis, hereditary sensory and autonomic neuropathy type iv, hereditary sensory and autonomic neuropathy iv, familial dysautonomia, type ii, congenital insensitivity to pain-anhidr
Description
Hereditary sensory and autonomic neuropathy, type 4 (HSAN4) is an inherited disorder characterized by anhidrosis, insensitivity to pain, self-mutilating behavior and episodes of fever.
Most common symptoms of HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 4
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Pain
More info about HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 4
DIFFERENTIATED THYROID CARCINOMA
Alternate names
DIFFERENTIATED THYROID CARCINOMA Is also known as well-differentiated thyroid carcinoma, pact, tpc, nonmedullary thyroid carcinoma, papillary, papillary or follicular thyroid carcinoma, papillary carcinoma of thyroid, familial nonmedullary thyroid cancer, papillary, ptc
Description
Differentiated thyroid carcinoma (DTC), also known as papillary or follicular thyroid carcinoma, is a slow-growing malignancy usually presenting in adults as an asymptomatic thyroid mass.
Most common symptoms of DIFFERENTIATED THYROID CARCINOMA
- Neoplasm
- Pain
- Carcinoma
- Hoarse voice
- Goiter
More info about DIFFERENTIATED THYROID CARCINOMA
Search interest in NTRK1
Potential gene panels for NTRK1 gene
Early Onset Hereditary Sensory and Autonomic Neuropathy (HSAN) Evaluation Panel
United States.
By Athena Diagnostics Inc Early Onset Hereditary Sensory and Autonomic Neuropathy (HSAN) Evaluation that also includes the following genes: WNK1 NTRK1
More info about this panel United States.
NTRK1 DNA Sequencing Test Panel
United States.
By Athena Diagnostics Inc
This panel specifically test the NTRK1 gene.
More info about this panel United States.
Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies, PMP22 Deletion/Duplication with Reflex to Sequencing Panel Panel
United States.
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 panel United States.
Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies Panel, Sequencing Panel
United States.
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 panel United States.
NTRK1 Gene Sequencing Panel
United States.
By GeneDx
This panel specifically test the NTRK1 gene.
More info about this panel United States.
NTRK1. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the NTRK1 gene.
More info about this panel Spain.
NTRK1. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the NTRK1 gene.
More info about this panel Spain.
Hereditary peripheral neuropathies, including Charcot-Marie-Tooth disease (NGS panel for 74 genes) Panel
Portugal.
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 panel Portugal.
Hereditary sensory and autonomic neuropathy IV (insensitivity to pain with anhidrosis, HSAN4, sequence analysis of NTRK1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the NTRK1 gene.
More info about this panel Portugal.
Hereditary Sensory and Autonomic Neuropathy Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Hereditary Sensory and Autonomic Neuropathy Sequencing Panel with CNV Detection that also includes the following genes: SCN11A SCN9A DST ATL1 SPTLC1 SPTLC2 PRDM12 WNK1 CCT5 CLTCL1
More info about this panel United States.
Comprehensive Neuropathy Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Comprehensive Neuropathy Sequencing Panel with CNV Detection that also includes the following genes: SBF1 SCN9A SLC12A6 ATL1 SPTLC1 SPTLC2 TFG TTR YARS PRX
More info about this panel United States.
Congenital Insensitivity to Pain with Anhidrosis via NTRK1 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the NTRK1 gene.
More info about this panel United States.
Mental retardation - different panels Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10
More info about this panel Germany.
Neuropathy Panel
Germany.
By MGZ Medical Genetics Center Neuropathy that also includes the following genes: SACS SCN10A SCN11A SCN9A SH3BP4 SLC12A6 SOD1 SPG11 ATL1 SPAST
More info about this panel Germany.
Hereditary Sensory and Autonomic Neuropathy Type IV Panel
Germany.
By MGZ Medical Genetics Center
This panel specifically test the NTRK1 gene.
More info about this panel Germany.
Hereditary Sensory and Autonomic Neuropathy Type IV Panel
Germany.
By Bioscientia GmbH Center for Human Genetics
This panel specifically test the NTRK1 gene.
More info about this panel Germany.
Cancer Hotspot Panel Panel
Germany.
By Centogene AG - the Rare Disease Company Cancer Hotspot Panel that also includes the following genes: BCL6 ROS1 BRAF BRCA1 BRCA2 SMARCB1 SMO SRC STK11 HNF1A
More info about this panel Germany.
HSAN4 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the NTRK1 gene.
More info about this panel Germany.
AllNeuro panel Panel
Germany.
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 panel Germany.
Neuropathic Pain Syndromes Panel Panel
Germany.
By CeGaT GmbH Neuropathic Pain Syndromes Panel that also includes the following genes: SCN10A SCN11A SCN9A TRPA1 NTRK1
More info about this panel Germany.
Charcot-Marie-Tooth and Sensory Neuropathies Panel Panel
Germany.
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 panel Germany.
Familial medullary thyroid cancer, NTRK1 Panel
Israel.
By GGA - Galil Genetic Analysis
This panel specifically test the NTRK1 gene.
More info about this panel Israel.
Congenital Insensitivity to Pain with Anhidrosis; HSAN Type IV, NTRK1 sequencing Panel
United States.
By Molecular Diagnostics Laboratory University of Toledo Medical Center
This panel specifically test the NTRK1 gene.
More info about this panel United States.
Thyroid carcinoma, familial medullary Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the NTRK1 gene.
More info about this panel Austria.
Thyroid carcinoma, familial medullary Panel
Slovakia.
By MedGene
This panel specifically test the NTRK1 gene.
More info about this panel Slovakia.
Invitae Comprehensive Neuropathies Panel Panel
United States.
By Invitae Invitae Comprehensive Neuropathies Panel that also includes the following genes: SCN11A SCN9A DST SPG11 ATL1 SPTLC1 SPTLC2 TFG TTR UBA1
More info about this panel United States.
Invitae Hereditary Sensory and Autonomic Neuropathy Panel Panel
United States.
By Invitae Invitae Hereditary Sensory and Autonomic Neuropathy Panel that also includes the following genes: SCN11A SCN9A DST ATL1 SPTLC1 SPTLC2 WNK1 ATL3 RETREG1 DNMT1
More info about this panel United States.
Neuropathy 4, Hereditary sensory and autonomic: NTRK1 gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the NTRK1 gene.
More info about this panel Spain.
Hereditary Neuropathies: Sequencing Panel Panel
United States.
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 panel United States.
Hereditary Neuropathies: Deletion/Duplication Panel Panel
United States.
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 panel United States.
Charcot Marie Tooth Disease Extended NGS Panel Panel
United States.
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 panel United States.
NTRK1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the NTRK1 gene.
More info about this panel United States.
Charcot-Marie-Tooth Neuropathy Panel Panel
Finland.
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 panel Finland.
Familial medullary thyroid carcinoma Panel
Spain.
By Bioarray
This panel specifically test the NTRK1 gene.
More info about this panel Spain.
Hereditary sensory and autonomic neuropathy type 4 Panel
Spain.
By Bioarray
This panel specifically test the NTRK1 gene.
More info about this panel Spain.
Solid Tumor Gene Set Panel
United States.
By Genomics and Pathology Services Washington University in St. Louis Solid Tumor Gene Set that also includes the following genes: RIT1 ROS1 RXRA FOXL2 BRAF BRCA1 BRCA2 SMARCA4 SMARCB1 KDM5C
More info about this panel United States.
CNS Tumor Gene Set Panel
United States.
By Genomics and Pathology Services Washington University in St. Louis CNS Tumor Gene Set that also includes the following genes: SHH BRAF SMARCA4 SMARCB1 SMO TERT MED12 TP53 WNT1 WT1
More info about this panel United States.
Thoracic Tumors Gene Set Panel
United States.
By Genomics and Pathology Services Washington University in St. Louis Thoracic Tumors Gene Set that also includes the following genes: RIT1 ROS1 BRAF SMARCA4 STK11 MED12 TP53 TSC1 TSC2 KMT2C
More info about this panel United States.
FoundationOne® Heme Panel
United States.
By Foundation Medicine, Inc. FoundationOne® Heme that also includes the following genes: BCL6 BCL7A ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1
More info about this panel United States.
Guardant360 Panel
United States.
By Guardant Health Guardant360 that also includes the following genes: RHEB RIT1 ROS1 BRAF BRCA1 BRCA2 ARID1A SMO STK11 HNF1A
More info about this panel United States.
Comprehensive Panel for Individualized Cancer Threatment Panel
Greece.
By GeneKor MSA Comprehensive Panel for Individualized Cancer Threatment that also includes the following genes: ROS1 BRAF SMARCB1 SMO SRC HNF1A TP53 VHL FBXW7 CDH1
More info about this panel Greece.
Hereditary Cancer Comprehensive Panel Panel
United States.
By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. Hereditary Cancer Comprehensive Panel that also includes the following genes: RUNX1 SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 STK11 EPCAM TERC
More info about this panel United States.
NeoTYPE® Discovery Profile for Solid Tumors Panel
United States.
By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. NeoTYPE® Discovery Profile for Solid Tumors that also includes the following genes: BCL6 ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1 FOXL2
More info about this panel United States.
Caris MI TumorSeek 592-Gene NGS Panel Panel
United States.
By Caris Life Sciences Caris MI TumorSeek 592-Gene NGS Panel that also includes the following genes: BCL6 BCL7A BCL9 BCR ROS1 RPL10 RPL22 RPL5 RPN1 RUNX1
More info about this panel United States.
OmniSeq Comprehensive Panel
United States.
By OmniSeq, Inc. OmniSeq Comprehensive that also includes the following genes: RHEB BCL9 ROS1 RPS6KB1 SF3B1 FOXL2 BRAF BRCA1 BRCA2 SMARCB1
More info about this panel United States.
Otogenetics Hereditary Cancers Panel
United States.
By Otogenetics Otogenetics Hereditary Cancers that also includes the following genes: BMPR1A BRCA1 BRCA2 STK11 EPCAM TP53 VHL ELAC2 PALLD CDH1
More info about this panel United States.
HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 4 Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the NTRK1 gene.
More info about this panel Spain.
Solid Tumor Targeted Mutation and Fusion Panel Panel
United States.
By Providence Regional Laboratories Providence Health and Services Solid Tumor Targeted Mutation and Fusion Panel that also includes the following genes: ROS1 BRAF SMO CCND1 CDK4 CDK6 CTNNB1 DDR2 EGFR ERBB2
More info about this panel United States.
Providence Personalized Medicine Panel - Solid Tumor Panel
United States.
By Providence Regional Laboratories Providence Health and Services Providence Personalized Medicine Panel - Solid Tumor that also includes the following genes: BCR ROS1 RUNX1 SDHA SDHB SDHC SDHD SF3B1 SRSF2 FOXL2
More info about this panel United States.
Hereditary Sensory and Autonomous Neuropathy Type IV , Sequencing NTRK1 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the NTRK1 gene.
More info about this panel Spain.
152 Integrated Advantage NGS Solid Tumor Panel Panel
United States.
By Integrated Molecular Diagnostics Pathology, Inc. 152 Integrated Advantage NGS Solid Tumor Panel that also includes the following genes: ROS1 RRM1 SLCO1B1 BRAF BRCA1 SLC29A1 BRCA2 SMO SPARC SRC
More info about this panel United States.
Tempus xT assay Panel
United States.
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 panel United States.
Tempus xO assay Panel
United States.
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 panel United States.
CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel Panel
Canada.
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
More info about this panel Canada.
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