CTSF gene related symptoms and diseases
All the information presented here about the CTSF 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 CTSF gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Seizures | Very Common - Between 80% and 100% cases |
| Muscular hypotonia of the trunk | Very Common - Between 80% and 100% cases |
| Primitive reflex | Very Common - Between 80% and 100% cases |
| Diffuse cerebral atrophy | Very Common - Between 80% and 100% cases |
| Emotional lability | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with CTSF gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Postural tremor
- Personality changes
- Abnormality of extrapyramidal motor function
- Neuronal loss in central nervous system
- Focal-onset seizure
- Dyskinesia
- Mental deterioration
- Rigidity
And 13 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to CTSF gene
Here you will find a list of rare diseases related to the CTSF. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
CLN13 DISEASE
Alternate names
CLN13 DISEASE Is also known as ceroid lipofuscinosis, neuronal, 13, kufs type
Description
Neuronal ceroid lipofuscinosis-13 is an autosomal recessive neurodegenerative disorder characterized by adult onset of progressive cognitive decline and motor dysfunction leading to dementia and often early death. Some patients develop seizures. Neurons show abnormal accumulation of autofluorescent material (summary by Smith et al., 2013).Adult-onset neuronal ceroid lipofuscinosis is sometimes referred to as Kufs disease.For a discussion of genetic heterogeneity of neuronal ceroid lipofuscinosis (CLN), see CLN1 (OMIM ).
Most common symptoms of CLN13 DISEASE
- Seizures
- Generalized hypotonia
- Ataxia
- Cognitive impairment
- Hyperreflexia
More info about CLN13 DISEASE
Search interest in CTSF
Potential gene panels for CTSF gene
Epilepsy Advanced Sequencing and CNV Evaluation - Neuronal Ceroid Lipofuscinosis Panel
United States.
By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation - Neuronal Ceroid Lipofuscinosis that also includes the following genes: DNAJC5 TPP1 CLN3 CLN5 CLN6 CLN8 KCTD7 CTSD CTSF MFSD8
More info about this panel United States.
Epilepsy Advanced Sequencing and CNV Evaluation Panel
United States.
By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A SHH ST3GAL3 ST3GAL5
More info about this panel United States.
Neuronal Ceroid-Lipofuscinoses Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Neuronal Ceroid-Lipofuscinoses Panel that also includes the following genes: DNAJC5 TPP1 CLN3 CLN5 CLN6 CLN8 CTSD CTSF MFSD8 GRN
More info about this panel United States.
Dystonia Exome Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Dystonia Exome Panel that also includes the following genes: BCS1L SCN8A SCP2 SDHA SGCE SLC16A2 SLC20A2 SLC2A1 SLC6A3 SLC6A8
More info about this panel United States.
Ataxia Exome Panel Panel
United States.
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 panel United States.
CustomNext: Neuro Panel
United States.
By Ambry Genetics CustomNext: Neuro that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC16A2 SLC2A1 SLC35A2
More info about this panel United States.
Neurodevelopment-Expanded Panel
United States.
By Ambry Genetics Neurodevelopment-Expanded that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC16A2 SLC2A1 SLC35A2
More info about this panel United States.
EpilepsyNext Panel
United States.
By Ambry Genetics EpilepsyNext that also includes the following genes: SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC2A1 SLC35A2 SLC6A1 SLC9A6 SMC1A
More info about this panel United States.
EpiRapid reflex EpilepsyNext Panel
United States.
By Ambry Genetics EpiRapid reflex EpilepsyNext that also includes the following genes: SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC2A1 SLC35A2 SLC6A1 SLC9A6 SMC1A
More info about this panel United States.
Lysosomal and peroxisomal diseases (NGS panel of 109 genes) Panel
Portugal.
By CGC Genetics Lysosomal and peroxisomal diseases (NGS panel of 109 genes) that also includes the following genes: SC5D SCP2 SGSH SHOX SLC17A5 SMPD1 TCIRG1 ACOX1 ACP2 MCOLN1
More info about this panel Portugal.
Lysosomal and peroxisomal diseases (NGS panel of 109 genes) Panel
Portugal.
By CGC Genetics Lysosomal and peroxisomal diseases (NGS panel of 109 genes) that also includes the following genes: SC5D SCP2 SGSH SHOX SLC17A5 SMPD1 TCIRG1 ACOX1 ACP2 MCOLN1
More info about this panel Portugal.
Early Infantile Epileptic Encephalopathy Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Early Infantile Epileptic Encephalopathy Sequencing Panel with CNV Detection that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A ST3GAL3 ST3GAL5 SLC2A1 SLC35A2 SLC9A6
More info about this panel United States.
Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection that also includes the following genes: RORB SCN10A SCN1A SCN1B SCN2A SCN8A SCN9A ST3GAL3 ST3GAL5 SLC17A5
More info about this panel United States.
Neuronal Ceroid Lipofuscinosis 13 via CTSF Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the CTSF gene.
More info about this panel United States.
Neuronal Ceroid Lipofuscinoses (Batten Disease) Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Neuronal Ceroid Lipofuscinoses (Batten Disease) Sequencing Panel with CNV Detection that also includes the following genes: DNAJC5 TPP1 CLN3 CLN5 CLN6 CLN8 KCTD7 CTSD CTSF MFSD8
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.
Neuronal Ceroid Lipofuscinosis and Progressive Myoclonic Epilepsy Panel Panel
Germany.
By CeGaT GmbH Neuronal Ceroid Lipofuscinosis and Progressive Myoclonic Epilepsy Panel that also includes the following genes: DNAJC5 SCARB2 PRICKLE1 PRICKLE2 TPP1 CLN3 CLN5 CLN6 CLN8 NHLRC1
More info about this panel Germany.
Neuronal Ceroidlipofuscinosis (NCL) Panel Panel
Germany.
By CeGaT GmbH Neuronal Ceroidlipofuscinosis (NCL) Panel that also includes the following genes: DNAJC5 TPP1 CLN3 CLN5 CLN6 CLN8 KCTD7 CTSD CTSF MFSD8
More info about this panel Germany.
Ataxia and differential diagnoses Panel Panel
Germany.
By CeGaT GmbH Ataxia and differential diagnoses Panel that also includes the following genes: RPIA SACS ATXN1 ATXN10 ATXN2 ATXN7 SCN2A SLC17A5 SLC1A3 SLC6A1
More info about this panel Germany.
Single gene testing CTSF Panel
Germany.
By CeGaT GmbH
This panel specifically test the CTSF gene.
More info about this panel Germany.
Ataxia, autosomal recessive and X-linked Panel Panel
Germany.
By CeGaT GmbH Ataxia, autosomal recessive and X-linked Panel that also includes the following genes: SACS SLC9A1 SPG7 SPTBN2 STUB1 TTPA WWOX ATP8A2 CA8 SNX14
More info about this panel Germany.
Retinal Dystrophy Panel Panel
United States.
By Molecular Vision Laboratory Retinal Dystrophy Panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panel United States.
MVL Vision Panel Panel
United States.
By Molecular Vision Laboratory MVL Vision Panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panel United States.
Invitae Comprehensive Lysosomal Storage Disorders Panel Panel
United States.
By Invitae Invitae Comprehensive Lysosomal Storage Disorders Panel that also includes the following genes: SGSH SLC17A5 SMPD1 MCOLN1 NPC2 DNAJC5 SUMF1 TPP1 CLN3 CLN5
More info about this panel United States.
Neuronal Ceroid-Lipofuscinoses Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Neuronal Ceroid-Lipofuscinoses that also includes the following genes: DNAJC5 TPP1 CLN3 CLN5 CLN6 CLN8 KCTD7 CTSD CTSF MFSD8
More info about this panel Spain.
Early-Onset Epileptic Encephalopathy NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Early-Onset Epileptic Encephalopathy NGS Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A ST3GAL3 ST3GAL5 SLC25A12
More info about this panel United States.
Comprehensive Epilepsy NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Comprehensive Epilepsy NGS Panel that also includes the following genes: BCS1L RYR3 SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B
More info about this panel United States.
NCL and Progressive Myoclonic Epilepsy Panel Panel
Finland.
By Blueprint Genetics NCL and Progressive Myoclonic Epilepsy Panel that also includes the following genes: CERS1 DNAJC5 SCARB2 PRICKLE1 TPP1 CLN3 CLN5 CLN6 CLN8 FARS2
More info about this panel Finland.
Comprehensive Epilepsy Panel Panel
Finland.
By Blueprint Genetics Comprehensive Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SCO1 AIMP1 ST3GAL3 ST3GAL5 SLC25A1
More info about this panel Finland.
NEURONAL CEROID LIPOFUSCINOSIS NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL NEURONAL CEROID LIPOFUSCINOSIS NGS PANEL that also includes the following genes: DNAJC5 TPP1 CLN3 CLN5 CLN6 CLN8 KCTD7 CTSD CTSF MFSD8
More info about this panel Spain.
Storage and Energetic Metabolism Diseases , Panel Massive Sequencing (NGS) 82 genes Panel
Spain.
By Reference Laboratory Genetics Storage and Energetic Metabolism Diseases , Panel Massive Sequencing (NGS) 82 genes that also includes the following genes: SCP2 SGSH SLC17A5 SMPD1 ACOX1 MCOLN1 NPC2 DNAJC5 SUMF1 TPP1
More info about this panel Spain.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like LRSAM1