ODCs

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1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
13 signs/symptoms

Congenital myopathy with excess of thin filaments

Hereditary sensory and autonomic neuropathy with spastic paraplegia


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

Citations in the biomedical literature:

Congenital myopathy with excess of thin filaments		Hereditary sensory and autonomic neuropathy with spastic paraplegia
	Synonym(s): - Actin myopathy		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: (no data available)		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		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
Congenital myopathy with excess of thin filaments
(no data available)