ODCs

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

PROTEIN INTERACTIONS: 1

1 OMIM reference -
2 associated genes
No signs/symptoms info

Distal 16p11.2 microdeletion syndrome

Hereditary sensory and autonomic neuropathy type 5

SH2B1	(UniProt - OMIM)		NGF	(UniProt - OMIM)
			NTRK1	(UniProt - OMIM)


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 5
	Synonym(s): - Distal del(16)(p11.2) - Distal monosomy 16p11.2		Synonym(s): - Congenital insensitivity to pain and thermal analgesia - HSAN5 - NHSA5

	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: <1 / 1 000 000 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 - 1 MeSH reference: D000699

No signs/symptoms info available.