ODCs

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1 OMIM reference -
1 associated gene
10 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
9 signs/symptoms

Metachondromatosis

Hereditary sensory and autonomic neuropathy type 4


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PTPN11	(0.52)	NTRK1

Citations in the biomedical literature:

Metachondromatosis		Hereditary sensory and autonomic neuropathy type 4
	Synonym(s): (no synonyms)		Synonym(s): - HSAN4 - Insensitivity to pain - anhidrosis - NHSA4

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the nervous system -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: normal Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy 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

Metachondromatosis		Hereditary sensory and autonomic neuropathy type 4
	Very frequent - Autosomal dominant inheritance - Bone pain - Cranial nerves palsy - Enchondroses - Epiphyseal anomaly - Exostoses - Metaphyseal anomaly - Osteonecrosis / bone infarction - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Periarticular tissue anomaly / extraarticular calcifications		Very frequent - Autosomal recessive inheritance - Chronic skin infection / ulcerations / ulcers / cancrum - Insensitivity to pain - Intellectual deficit / mental / psychomotor retardation / learning disability - Osteosclerosis / osteopetrosis / bone condensation - Psychic / behavioural troubles Occasional - Dental staining anomaly / spotted teeth / erythrodontia - Thick skin / pachydermia / orange skin - Tight skin / lack of elasticity