Details of Disease | DrugMAP

General Information of Disease (ID: DIS3DLQQ)

Disease Name	Neuropathy with hearing impairment
Definition	This syndrome is characterized by the association of sensorineural hearing impairment and peripheral neuropathy.
Disease Hierarchy	DISSYRHC: Hereditary peripheral neuropathy DIS3DLQQ: Neuropathy with hearing impairment
Disease Identifiers	MONDO ID MONDO_0015351 UMLS CUI C4509933 MedGen ID 1375726 Orphanet ID 139512 SNOMED CT ID 723497003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GJB3	TTVRQ8L	Supportive	Autosomal dominant	[1]
GJB3	TTVRQ8L	Strong	GermlineCausalMutation	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GJB3	OTLJ59E7	Supportive	Autosomal dominant	[1]
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References

1	Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment. Hum Mol Genet. 2001 Apr 15;10(9):947-52. doi: 10.1093/hmg/10.9.947.