ODCs

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

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
9 signs/symptoms

Distal 16p11.2 microdeletion syndrome

Hereditary sensory and autonomic neuropathy type 4


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SH2B1	(0.86)	NTRK1

Citations in the biomedical literature:

Distal 16p11.2 microdeletion syndrome		Hereditary sensory and autonomic neuropathy type 4
	Synonym(s): - Distal del(16)(p11.2) - Distal monosomy 16p11.2		Synonym(s): - HSAN4 - Insensitivity to pain - anhidrosis - NHSA4

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare endocrine disease - 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: (no data available)		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

Hereditary sensory and autonomic neuropathy type 4
	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
Distal 16p11.2 microdeletion syndrome
(no data available)