Details of Disease | DrugMAP

General Information of Disease (ID: DISK9LH5)

Disease Name	Proximal symphalangism
Synonyms	hereditary absence of the proximal interphalangeal joints; hereditary absence of proximal interphalangeal joints; Strasburger-Hawkins-Eldridge syndrome; Strasburger-Hawkins-Eldridge-Hargrave-McKusick syndrome; vessels syndrome; proximal symphalangism (disease); proximal symphalangism; Cushing's symphalangism; symphalangism, Cushing type
Definition	Proximal symphalangism is a very rare, genetic bone disorder characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive hearing loss in some patients.
Disease Hierarchy	DIS4CD9E: Symphalangism DIS3LICD: Congenital limb malformation DIS3HIWD: Autosomal dominant disease DISK9LH5: Proximal symphalangism
Disease Identifiers	MONDO ID MONDO_0008511 MESH ID C536223 UMLS CUI C1861385 MedGen ID 348856 HPO ID HP:0100264 Orphanet ID 3250 SNOMED CT ID 1162837001

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	Limited	Genetic Variation	[1]
GDF5	TT37XV9	Supportive	Autosomal dominant	[2]
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This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GDF5	OTOV8S81	Supportive	Autosomal dominant	[2]
NOG	OTGRHHPG	Supportive	Autosomal dominant	[3]
MPV17	OT579DMU	Strong	Genetic Variation	[4]
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References

1	Knock-in human GDF5 proregion L373R mutation as a mouse model for proximal symphalangism.Oncotarget. 2017 Dec 8;8(69):113966-113976. doi: 10.18632/oncotarget.23047. eCollection 2017 Dec 26.
2	Novel point mutations in GDF5 associated with two distinct limb malformations in Chinese: brachydactyly type C and proximal symphalangism. J Hum Genet. 2008;53(4):368-374. doi: 10.1007/s10038-008-0253-7. Epub 2008 Feb 19.
3	Mutations of the NOG gene in individuals with proximal symphalangism and multiple synostosis syndrome. Clin Genet. 2001 Dec;60(6):447-51. doi: 10.1034/j.1399-0004.2001.600607.x.
4	Novel NOG (p.P42S) mutation causes proximal symphalangism in a four-generation Chinese family.BMC Med Genet. 2019 Aug 1;20(1):133. doi: 10.1186/s12881-019-0864-1.