CCT5 gene related symptoms and diseases

All the information presented here about the CCT5 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,OMIM,HGNC, Mendelian Rare Disease Search Engine.

Table of contents:

Main symptoms and clinical features
Other symptoms and clinical features
Related Diseases
Current trends
Suitable testing panels

Top 5 symptoms and clinical features associated to CCT5 gene

Symptoms // Phenotype	% Cases
Spasticity	Very Common - Between 80% and 100% cases
Skin ulcer	Very Common - Between 80% and 100% cases
Acral ulceration	Very Common - Between 80% and 100% cases
Distal sensory loss of all modalities	Very Common - Between 80% and 100% cases
Abnormality of the spinal cord	Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with CCT5 gene alterations may also develop some of the following symptoms and phenotypes:

Commonly - More than 50% cases
Atrophy of the spinal cord
Decreased LDL cholesterol concentration
Abnormality of peripheral nerve conduction
Hypocholesterolemia
Impaired pain sensation
Progressive spastic paraplegia
Osteomyelitis
Sensory axonal neuropathy

And 18 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to CCT5 gene

Here you will find a list of rare diseases related to the CCT5. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

MUTILATING HEREDITARY SENSORY NEUROPATHY WITH SPASTIC PARAPLEGIA

Alternate names

MUTILATING HEREDITARY SENSORY NEUROPATHY WITH SPASTIC PARAPLEGIA Is also known as mutilating hsan with spastic paraplegia

Description

This syndrome is characterized by the association of an axonal sensory and autonomic neuropathy with spastic paraplegia.

Most common symptoms of MUTILATING HEREDITARY SENSORY NEUROPATHY WITH SPASTIC PARAPLEGIA

Spasticity
Peripheral neuropathy
Hyperreflexia
Skeletal muscle atrophy
Gait disturbance

More info about MUTILATING HEREDITARY SENSORY NEUROPATHY WITH SPASTIC PARAPLEGIA

SOURCES: MESH OMIM ORPHANET

Search interest in CCT5

Potential gene panels for CCT5 gene

HSPAR panel Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht HSPAR panel that also includes the following genes: SACS SPG11 SPG7 CCT5 PNPLA6 GJC2 SPART SPG21 ZFYVE26 CYP7B1

CCT5 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to CCT5 gene

Other less frequent symptoms and clinical features

Commonly - More than 50% cases

Rare diseases associated to CCT5 gene

MUTILATING HEREDITARY SENSORY NEUROPATHY WITH SPASTIC PARAPLEGIA

Alternate names

Description

Most common symptoms of MUTILATING HEREDITARY SENSORY NEUROPATHY WITH SPASTIC PARAPLEGIA

Search interest in CCT5

Potential gene panels for CCT5 gene

HSPAR panel Panel

Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies, PMP22 Deletion/Duplication with Reflex to Sequencing Panel Panel

Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies Panel, Sequencing Panel

Hereditary Sensory and Autonomic Neuropathy Sequencing Panel with CNV Detection Panel

Hereditary Sensory Neuropathy with Spastic Paraplegia via CCT5 Gene Sequencing with CNV Detection Panel

Complex Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection Panel

Hereditary Spastic Paraplegia Comprehensive Sequencing Panel with CNV Detection Panel

Comprehensive Neuropathy Sequencing Panel with CNV Detection Panel

CCT5 Panel

Neurogenetic Disorders - panels Panel

Neuropathy, hereditary sensory, with spastic paraplegia Panel

AllNeuro panel Panel

Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel Panel

Charcot-Marie-Tooth and Sensory Neuropathies Panel Panel

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

CCT5 Panel

Charcot-Marie-Tooth Neuropathy Panel Panel