Cytoscape Web
Click node...

Hereditary sensory and autonomic neuropathy with spastic paraplegia
1 OMIM reference -
1 associated gene
57 connected diseases
13 signs/symptoms
Disease Type of connection
Precursor T-cell acute lymphoblastic leukemia
Dedifferentiated liposarcoma
Familial melanoma
Well-differentiated liposarcoma
Young adult-onset Parkinsonism
Amyotrophic lateral sclerosis
Childhood-onset nemaline myopathy
Congenital fiber-type disproportion myopathy
Congenital myopathy with excess of thin filaments
Familial thoracic aortic aneurysm and aortic dissection
Intermediate nemaline myopathy
Moyamoya disease
Severe congenital nemaline myopathy
Typical nemaline myopathy
Adrenocortical carcinoma
B-cell chronic lymphocytic leukemia
Essential thrombocythemia
Familial pancreatic carcinoma
Giant cell glioblastoma
Li-Fraumeni syndrome
Papilloma of choroid plexus
Precursor B-cell acute lymphoblastic leukemia
Spinocerebellar ataxia type 12
Baraitser-Winter syndrome
Developmental malformations - deafness - dystonia
Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia
Adult-onset distal myopathy due to VCP mutation
Behavioral variant of frontotemporal dementia
Chuvash erythrocytosis
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Progressive non-fluent aphasia
Semantic dementia
Spastic paraplegia - Paget disease of bone
Von Hippel-Lindau disease
46,XY complete gonadal dysgenesis
46,XY partial gonadal dysgenesis
Burkitt lymphoma
Fibronectin glomerulopathy
Herpetic encephalitis
Bardet-Biedl syndrome
Combined immunodeficiency due to STK4 deficiency
Dyskeratosis congenita
Familial dysautonomia
Glycogen storage disease due to liver phosphorylase kinase deficiency
Hoyeraal-Hreidarsson syndrome
Idiopathic aplastic anemia
Idiopathic pulmonary fibrosis
McKusick-Kaufman syndrome
Phosphoenolpyruvate carboxykinase 1 deficiency
Pseudohypoaldosteronism type 2E
Split hand-split foot malformation
X-linked dominant chondrodysplasia, Chassaing-Lacombe type
Infantile Refsum disease
Neonatal adrenoleukodystrophy
Zellweger syndrome
Spinocerebellar ataxia type 2
- HSAN with spastic paraplegia

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references

Gene symbol UniProt reference OMIM reference
CCT5 P48643610150
Very frequent
- Abnormal gait
- Auto-aggressivity / auto-mutilation
- Autosomal recessive inheritance
- Chronic skin infection / ulcerations / ulcers / cancrum
- Dysautonomia / autonomous nervous sytem anomalies
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Hypereflexia
- Hypertonia / spasticity / rigidity / stiffness
- Insensitivity to pain
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Peripheral neuropathy

- Nerve conduction abnormality

- Osteomyelitis / osteitis / periostitis / spondylodisciitis