Details of Disease | DrugMAP

General Information of Disease (ID: DISZF3HD)

Disease Name	Congenital vertical talus
Synonyms	vertical talus, congenital; rocker bottom foot; rocker-bottom foot; rocker-bottom foot deformity; vertical talus; pes valgus, congenital convex; CVT; congenital rocker-bottom foot; Charcot-Marie-Tooth disease, foot deformity of; congenital convex foot; congenital convex pes valgus
Definition	Isolated congenital vertical talus (CVT) is a rare pedal deformity recognizable at birth by a dislocation of the talonavicular joint, resulting in a characteristic radiographic near-vertical orientation of the talus.
Disease Hierarchy	DISYKSRF: Genetic disease DISP4N1Q: Congenital deformities of limbs DISZF3HD: Congenital vertical talus
Disease Identifiers	MONDO ID MONDO_0008652 MESH ID D005413 UMLS CUI C0240912 OMIM ID 192950 MedGen ID 66821 HPO ID HP:0001838 Orphanet ID 178382 SNOMED CT ID 205082007

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
F2	TT6L509	Strong	Genetic Variation	[1]
F5	TT1O264	Strong	Biomarker	[2]
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This Disease Is Related to 10 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
HOXD10	OT0NOWU2	Limited	Autosomal dominant	[3]
TNNT3	OT4C498E	Limited	Genetic Variation	[4]
HOXC11	OT8NMHM6	Strong	Genetic Variation	[5]
HOXC12	OTGG9BJS	Strong	Genetic Variation	[5]
HSD17B6	OTSB55D2	Strong	Biomarker	[6]
PRH1	OTQZ6HX0	Strong	Genetic Variation	[7]
SMIM21	OTC234EW	Strong	Biomarker	[8]
TBX4	OTW58FG4	Strong	Genetic Variation	[9]
TPM2	OTA1L0P8	Strong	Biomarker	[10]
TSHZ1	OTYQ9ECW	Strong	Biomarker	[8]
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⏷ Show the Full List of 10 DOT(s)

References

1	Non-genetic and genetic risk factors for adult cerebral venous thrombosis.Thromb Res. 2018 Sep;169:15-22. doi: 10.1016/j.thromres.2018.07.005. Epub 2018 Jul 6.
2	Prevalence and geographical variation of Factor V Leiden in patients with cerebral venous thrombosis: A meta-analysis.PLoS One. 2018 Aug 29;13(8):e0203309. doi: 10.1371/journal.pone.0203309. eCollection 2018.
3	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
4	A novel mutation in TNNT3 associated with Sheldon-Hall syndrome in a Chinese family with vertical talus.Eur J Med Genet. 2011 May-Jun;54(3):351-3. doi: 10.1016/j.ejmg.2011.03.002. Epub 2011 Mar 12.
5	Deletions of 5' HOXC genes are associated with lower extremity malformations, including clubfoot and vertical talus.J Med Genet. 2016 Apr;53(4):250-5. doi: 10.1136/jmedgenet-2015-103505. Epub 2016 Jan 4.
6	Cerebral venous thrombosis: a rare complication of herpes simplex encephalitis.J Neurovirol. 2020 Feb;26(1):114-117. doi: 10.1007/s13365-019-00778-3. Epub 2019 Jul 5.
7	Inherited protein-C deficiency, factor V G 1691 A and FV A 4070 G mutations in a child with internal cerebral venous thrombosis.Pediatr Radiol. 2000 Jun;30(6):420-3. doi: 10.1007/s002470050776.
8	Narrowing the critical region for congenital vertical talus in patients with interstitial 18q deletions.Am J Med Genet A. 2013 May;161A(5):1117-21. doi: 10.1002/ajmg.a.35791. Epub 2013 Mar 13.
9	The 2017 ABJS Nicolas Andry Award: Advancing Personalized Medicine for Clubfoot Through Translational Research.Clin Orthop Relat Res. 2017 Jun;475(6):1716-1725. doi: 10.1007/s11999-017-5290-0. Epub 2017 Feb 24.
10	Skeletal muscle contractile gene (TNNT3, MYH3, TPM2) mutations not found in vertical talus or clubfoot.Clin Orthop Relat Res. 2009 May;467(5):1195-200. doi: 10.1007/s11999-008-0694-5. Epub 2009 Jan 14.