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4 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
13 signs/symptoms
Severe congenital nemaline myopathy
Hereditary sensory and autonomic neuropathy with spastic paraplegia

ACTA1 CCT5
KLHL40
KLHL41
NEB


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ACTA1
(0.88)
CCT5



Citations in the biomedical literature:


Severe congenital nemaline myopathy
ACTA1 KLHL40 KLHL41 NEB
Hereditary sensory and autonomic neuropathy with spastic paraplegia
CCT5



Severe congenital nemaline myopathy
Hereditary sensory and autonomic neuropathy with spastic paraplegia

Synonym(s):
(no synonyms)

Synonym(s):
- HSAN with spastic paraplegia

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

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

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: child / adolescent
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive

External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
No MeSH references

Hereditary sensory and autonomic neuropathy with spastic paraplegia

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

Frequent
- Nerve conduction abnormality

Occasional
- Osteomyelitis / osteitis / periostitis / spondylodisciitis


Severe congenital nemaline myopathy

(no data available)