Details of Disease | DrugMAP

General Information of Disease (ID: DIS1WSKZ)

Disease Name	Proximal symphalangism 1A
Synonyms	hereditary absence of the proximal interphalangeal joints; Cushing symphalangism; symphalangism, proximal, type 1A; Sym1; symphalangism, proximal, 1A; SYM1A
Disease Hierarchy	DISEOUIO: NOG-related symphalangism spectrum disorder DISK9LH5: Proximal symphalangism DIS1WSKZ: Proximal symphalangism 1A
Disease Identifiers	MONDO ID MONDO_0020733 UMLS CUI C3714899 OMIM ID 185800 MedGen ID 811492

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
GDF5	TT37XV9	Strong	Genetic Variation	[1]
GDF5	TT37XV9	Definitive	Autosomal dominant	[2]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
NOG	OTGRHHPG	Limited	Genetic Variation	[1]
BMPR1B	OTGFN0OD	Strong	Genetic Variation	[3]
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References

1	Identification of a Novel NOG Missense Mutation in a Chinese Family With Symphalangism and Tarsal Coalitions.Front Genet. 2019 Apr 18;10:353. doi: 10.3389/fgene.2019.00353. eCollection 2019.
2	Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis. Nat Genet. 1999 Mar;21(3):302-4. doi: 10.1038/6821.
3	A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2.Eur J Hum Genet. 2006 Dec;14(12):1248-54. doi: 10.1038/sj.ejhg.5201708. Epub 2006 Sep 6.