CPT1C gene related symptoms and diseases
All the information presented here about the CPT1C gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to CPT1C gene
Symptoms // Phenotype | % Cases |
---|---|
Seizures | Very Common - Between 80% and 100% cases |
Spastic gait | Very Common - Between 80% and 100% cases |
Progressive pes cavus | Very Common - Between 80% and 100% cases |
Abnormality of the cerebrospinal fluid | Very Common - Between 80% and 100% cases |
Progressive spastic paraparesis | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with CPT1C gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Degeneration of the lateral corticospinal tracts
- Distal lower limb muscle weakness
- Distal lower limb amyotrophy
- Impaired vibration sensation in the lower limbs
- Progressive spastic paraplegia
- Urinary urgency
- Impaired vibratory sensation
- EMG abnormality
And 14 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to CPT1C gene
Here you will find a list of rare diseases related to the CPT1C. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 73
Alternate names
AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 73 Is also known as spg73
Description
Autosomal dominant spastic paraplegia type 73 is a pure form of hereditary spastic paraplegia characterized by adult onset of crural spastic paraparesis, hyperreflexia, extensor plantar responses, proximal muscle weakness, mild muscle atrophy, decreased vibration sensation at ankles, and mild urinary dysfunction. Foot deformities have been reported to eventually occur in some patients. No abnormalities are noted on brain magnetic resonance imaging and peripheral nerve conduction velocity studies.
Most common symptoms of AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 73
- Seizures
- Muscle weakness
- Spasticity
- Hyperreflexia
- Skeletal muscle atrophy
More info about AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 73
Search interest in CPT1C
Potential gene panels for CPT1C gene
Hereditary Spastic Paraplegia Panel Panel
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Hereditary Spastic Paraplegia Panel that also includes the following genes: RTN2 SACS SLC16A2 SLC2A1 KDM5C SPG11 ATL1 SPAST SPG7 TFG
More info about this panelHereditary Spastic Paraplegia Exome Panel Panel
By Genetic Services Laboratory University of Chicago Hereditary Spastic Paraplegia Exome Panel that also includes the following genes: RTN2 SACS SLC16A2 SLC2A1 KDM5C SPG11 ATL1 SPAST SPG7 VAMP1
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 panelPure Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Pure Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection that also includes the following genes: RTN2 SPG11 ATL1 SPAST SPG7 CAPN1 ERLIN1 NIPA1 BICD2 ZFR
More info about this panelHereditary Spastic Paraplegia Comprehensive Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Hereditary Spastic Paraplegia Comprehensive Sequencing Panel with CNV Detection that also includes the following genes: RTN2 SACS SLC16A2 KDM5C SPG11 ATL1 SPAST SPG7 TFG UCHL1
More info about this panelNeurogenetic Disorders - panels Panel
By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2
More info about this panelSPG73 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the CPT1C gene.
More info about this panelHereditary Spastic Paraplegias (HSP) and differential diagnoses Panel Panel
By CeGaT GmbH Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel that also includes the following genes: RTN2 SACS AIMP1 SLC16A2 SLC1A4 SLC25A15 SOD1 SOX10 SPG11 ATL1
More info about this panelHereditary spastic paraplegia (HSP), autosomal dominant and X-linked Panel Panel
By CeGaT GmbH Hereditary spastic paraplegia (HSP), autosomal dominant and X-linked Panel that also includes the following genes: RTN2 ATL1 SPAST BSCL2 ABHD12 NIPA1 REEP2 CPT1C KANK1 REEP1
More info about this panelCPT1C Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CPT1C gene.
More info about this panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like COL25A1 COQ6 PIK3C2B PINK1 HMGB3 NEK2 HAMP