Details of Disease | DrugMAP

General Information of Disease (ID: DISNZUWP)

Disease Name	Autosomal dominant nonsyndromic hearing loss 69
Synonyms	unilateral or asymmetric congenital deafness; autosomal dominant nonsyndromic deafness caused by mutation in KITLG; autosomal dominant deafness 69; autosomal dominant nonsyndromic deafness 69; DFNA69; KITLG autosomal dominant nonsyndromic deafness; deafness, autosomal dominant 69, unilateral or asymmetric; DCUA; deafness, congenital, unilateral or asymmetric; deafness, autosomal dominant 69; autosomal dominant nonsyndromic deafness type 69
Definition	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the KITLG gene.
Disease Hierarchy	DISYC1G0: Autosomal dominant nonsyndromic hearing loss DISNZUWP: Autosomal dominant nonsyndromic hearing loss 69
Disease Identifiers	MONDO ID MONDO_0014738 UMLS CUI C4225241 OMIM ID 616697 MedGen ID 905882

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
KITLG	TTDJ51N	moderate	Biomarker	[1]
KITLG	TTDJ51N	Strong	Autosomal dominant	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
KITLG	OTB9AVQ4	Strong	Autosomal dominant	[2]
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References

1	Pigmented macules in Waardenburg syndrome type 2 due to KITLG mutation.Pigment Cell Melanoma Res. 2017 Sep;30(5):501-504. doi: 10.1111/pcmr.12597. Epub 2017 Jul 4.
2	TRP-2/DT, a new early melanoblast marker, shows that steel growth factor (c-kit ligand) is a survival factor. Development. 1992 Aug;115(4):1111-9. doi: 10.1242/dev.115.4.1111.