Details of Disease | DrugMAP

General Information of Disease (ID: DISGVQR4)

Disease Name	Stapes ankylosis with broad thumbs and toes
Synonyms	stapes ankylosis syndrome without symphalangism; ankylosis of stapes, hyperopia, Broad thumbs, Broad first toes, and syndactyly; stapes ankylosis with BROAD thumb and toes; Teunissen-Cremers syndrome
Definition	Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
Disease Hierarchy	DISEOUIO: NOG-related symphalangism spectrum disorder DISGVQR4: Stapes ankylosis with broad thumbs and toes
Disease Identifiers	MONDO ID MONDO_0008484 MESH ID C536943 UMLS CUI C1866656 OMIM ID 184460 MedGen ID 357104 Orphanet ID 140917 SNOMED CT ID 719305006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GDF5	TT37XV9	Strong	Biomarker	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
NOG	OTGRHHPG	Supportive	Autosomal dominant	[2]
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References

1	Identification of two novel mutations in the NOG gene associated with congenital stapes ankylosis and symphalangism.J Hum Genet. 2015 Jan;60(1):27-34. doi: 10.1038/jhg.2014.97. Epub 2014 Nov 13.
2	Autosomal dominant stapes ankylosis with broad thumbs and toes, hyperopia, and skeletal anomalies is caused by heterozygous nonsense and frameshift mutations in NOG, the gene encoding noggin. Am J Hum Genet. 2002 Sep;71(3):618-24. doi: 10.1086/342067. Epub 2002 Jun 27.