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

SOURCES: OMIM ORPHANET


Potential gene panels for CPT1C gene

Hereditary Spastic Paraplegia Panel Panel

United States.

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 panel
United States.

Hereditary Spastic Paraplegia Exome Panel Panel

United States.

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 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.

Pure Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection Panel

United States.

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 panel
United States.

Hereditary Spastic Paraplegia Comprehensive Sequencing Panel with CNV Detection Panel

United States.

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 panel
United States.

Neurogenetic Disorders - panels Panel

Germany.

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 panel
Germany.

SPG73 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the CPT1C gene.

More info about this panel
Germany.

Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel Panel

Germany.

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 panel
Germany.

Hereditary spastic paraplegia (HSP), autosomal dominant and X-linked Panel Panel

Germany.

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 panel
Germany.

CPT1C Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CPT1C gene.

More info about this panel
United States.

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