CVT
MCID: VRT007
MIFTS: 36

Vertical Talus, Congenital (CVT)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Muscle diseases, Rare diseases

Aliases & Classifications for Vertical Talus, Congenital

MalaCards integrated aliases for Vertical Talus, Congenital:

Name: Vertical Talus, Congenital 58 54 76 30 56 6 41
Congenital Convex Pes Valgus 54 60 76
Congenital Vertical Talus 54 60 38
Rocker Bottom Foot 54 30 6
Cvt 58 54 76
Charcot-Marie-Tooth Disease, Foot Deformity of 58 13
Pes Valgus, Congenital Convex 58 54
Rocker-Bottom Foot Deformity 54 76
Congenital Rocker-Bottom Foot 60
Congenital Convex Foot 60
Rocker-Bottom Foot 58
Vertical Talus 54

Characteristics:

Orphanet epidemiological data:

60
congenital vertical talus
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
apparent in newborn at birth
isolated finding
patients younger than 30 years complain only that they cannot run fast
patients between 30 and 60 years have discomfort with prolonged standing
patients older than 60 years have severe degenerative arthritis in the feet


HPO:

33
vertical talus, congenital:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 192950
KEGG 38 H00929
MeSH 45 D005532
ICD10 via Orphanet 35 Q66.8
UMLS via Orphanet 75 C0240912
Orphanet 60 ORPHA178382

Summaries for Vertical Talus, Congenital

NIH Rare Diseases : 54 Congenital vertical talus, sometimes called "rocker-bottom foot," is a rare birth defect of the foot in which the talus bone has formed in the wrong position and other foot bones have shifted on top of it. As a result, the front of the foot points up and the bottom of the foot is stiff and has no arch (flatfoot), usually curving outward like the bottom of a rocker. One or both feet may be affected. The underlying cause of vertical talus is usually not known. It can occur by itself (isolated) or may be associated with a genetic syndrome or neuromuscular disorder. Rare familial cases have been reported, some due to a mutation in a gene called HOXD10. While vertical talus is not painful in very early childhood, if left untreated it typically leads to pain and disability later in life. Treatment usually involves surgery before one year of age to correct the problems with the bones, and the ligaments and tendons that support the bones.

MalaCards based summary : Vertical Talus, Congenital, also known as congenital convex pes valgus, is related to external auditory canal, bilateral atresia of, with congenital vertical talus and congenital vertical talus, unilateral. An important gene associated with Vertical Talus, Congenital is HOXD10 (Homeobox D10). The drugs Astragalus and Neuroserpin have been mentioned in the context of this disorder. Affiliated tissues include bone and testes, and related phenotypes are rocker bottom foot and arthritis

OMIM : 58 Congenital vertical talus (CVT), also known as 'rocker-bottom foot' deformity, is a dislocation of the talonavicular joint characterized by vertical orientation of the talus with a rigid dorsal dislocation of the navicular, equinus deformity of the calcaneus, abduction deformity of the forefoot, and contracture of the soft tissues of the hind- and mid-foot. This condition is usually associated with multiple other congenital deformities and only rarely is an isolated deformity with familial occurrence (summary by Levinsohn et al., 2004). The condition is transmitted in an autosomal dominant pattern of inheritance, and sometimes shows incomplete penetrance and variable expressivity. There may be a broad spectrum of deformities, including flatfoot, talipes equinovarus (TEV or clubfoot), cavus foot, metatarsus adductus, and even hypoplasia of the tibia (summary by Dobbs et al., 2006). (192950)

UniProtKB/Swiss-Prot : 76 Vertical talus, congenital: A rare malformation characterized by vertical orientation of the talus with a rigid dorsal dislocation of the navicular, equinus deformity of the calcaneus, abduction deformity of the forefoot, and contracture of the soft tissues of the hind- and mid-foot. This condition is usually associated with multiple other congenital deformities and only rarely is an isolated deformity with familial occurrence.

Wikipedia : 77 Rocker bottom foot, also known as congenital vertical talus, is an anomaly of the foot. It is... more...

Related Diseases for Vertical Talus, Congenital

Graphical network of the top 20 diseases related to Vertical Talus, Congenital:



Diseases related to Vertical Talus, Congenital

Symptoms & Phenotypes for Vertical Talus, Congenital

Human phenotypes related to Vertical Talus, Congenital:

60 33
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 rocker bottom foot 60 33 hallmark (90%) Very frequent (99-80%) HP:0001838
2 arthritis 33 HP:0001369
3 calcaneovalgus deformity 33 HP:0001848
4 equinus calcaneus 33 HP:0008138

Symptoms via clinical synopsis from OMIM:

58
Skeletal Feet:
congenital vertical talus, bilateral
'rocker bottom' feet
vertical orientation of the talus with rigid dorsal dislocation of the navicular bone
distal aspect of the talus is projected plantarly
equinus deformity of the calcaneus
more

Clinical features from OMIM:

192950

Drugs & Therapeutics for Vertical Talus, Congenital

Drugs for Vertical Talus, Congenital (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Astragalus
2 Neuroserpin

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Genetic Disease Gene Identification Unknown status NCT00916903

Search NIH Clinical Center for Vertical Talus, Congenital

Genetic Tests for Vertical Talus, Congenital

Genetic tests related to Vertical Talus, Congenital:

# Genetic test Affiliating Genes
1 Rocker Bottom Foot 30
2 Vertical Talus, Congenital 30 HOXD10

Anatomical Context for Vertical Talus, Congenital

MalaCards organs/tissues related to Vertical Talus, Congenital:

42
Bone, Testes

Publications for Vertical Talus, Congenital

Articles related to Vertical Talus, Congenital:

(show top 50) (show all 109)
# Title Authors Year
1
Investigating the role of constrained CVT and CVT in HIPO inverse planning for HDR brachytherapy of prostate cancer. ( 31055834 )
2019
2
CVT-301 for Parkinson's disease: dose and effect size issues. ( 30663600 )
2019
3
Safety and efficacy of CVT-301 (levodopa inhalation powder) on motor function during off periods in patients with Parkinson's disease: a randomised, double-blind, placebo-controlled phase 3 trial. ( 30663606 )
2019
4
Orally inhaled levodopa (CVT-301) for early morning OFF periods in Parkinson's disease. ( 30992235 )
2019
5
CVT-301 for the treatment of Parkinson's disease. ( 31104518 )
2019
6
A nuclear membrane-derived structure associated with Atg8 is involved in the sequestration of selective cargo, the Cvt complex, during autophagosome formation in yeast. ( 30238844 )
2019
7
The benefit of EXtending oral antiCOAgulation treatment (EXCOA) after acute cerebral vein thrombosis (CVT): EXCOA-CVT cluster randomized trial protocol. ( 29771211 )
2018
8
Durability of Protection Afforded by Fewer Doses of the HPV16/18 Vaccine: The CVT Trial. ( 28954299 )
2018
9
Pulmonary Safety and Tolerability of Inhaled Levodopa (CVT-301) Administered to Patients with Parkinson's Disease. ( 29161531 )
2018
10
Ferromagnetism in CVT grown tungsten diselenide single crystals with nickel doping. ( 29313820 )
2018
11
CO poisoning as an associated risk factor for CVT. ( 29548522 )
2018
12
Zn Vacancy Formation Energy and Diffusion Coefficient of CVT ZnO Crystals in the Sub-Surface Micron Region. ( 30194333 )
2018
13
Pharmacokinetic drug evaluation of CVT-301 for the treatment of Parkinson's disease. ( 30479171 )
2018
14
Aggressive treatment of cerebral venous sinus thrombosis (CVT) with stent retrievers and local thrombolysis: why we need a registry. ( 29017198 )
2017
15
Structural Biology of the Cvt Pathway. ( 28077284 )
2017
16
Formation mechanisms of Fe3-xSnxO4 by a chemical vapor transport (CVT) process. ( 28262673 )
2017
17
Stroke: Patients with CVT urgently need high-quality evidence. ( 29027542 )
2017
18
A randomized trial of inhaled levodopa (CVT-301) for motor fluctuations in Parkinson's disease. ( 27090868 )
2016
19
Higher-order assemblies of oligomeric cargo receptor complexes form the membrane scaffold of the Cvt vesicle. ( 27266708 )
2016
20
Neuroimaging of Cerebral Venous Thrombosis (CVT) - Old Dilemma and the New Diagnostic Methods. ( 26251677 )
2015
21
Abstraction and addition kinetics of C2H radicals with CH4, C2H6, C3H8, C2H4, and C3H6: CVT/SCT/ISPE and hybrid meta-DFT methods. ( 25515623 )
2015
22
Mechanism, kinetics and atmospheric fate of CF₃CH=CH₂, CF₃CF=CH₂, and CF₃CF=CF₂ by its reaction with OH-radicals: CVT/SCT/ISPE and hybrid meta-DFT methods. ( 24370673 )
2014
23
Assays for autophagy I: the Cvt pathway and nonselective autophagy. ( 24841304 )
2014
24
Functional analysis of Aoatg1 and detection of the Cvt pathway in Aspergillus oryzae. ( 23136971 )
2013
25
Multichannel RRKM-TST and direct-dynamics CVT study of the reaction of hydrogen sulfide with ozone. ( 23837601 )
2013
26
Adaptation of the CVT algorithm for catheter optimization in high dose rate brachytherapy. ( 24320432 )
2013
27
A randomized, controlled trial of Panax quinquefolius extract (CVT-E002) to reduce respiratory infection in patients with chronic lymphocytic leukemia. ( 22266154 )
2012
28
Proteinase protection of prApe1 as a tool to monitor Cvt vesicle/autophagosome biogenesis. ( 22653261 )
2012
29
The talar axis-first metatarsal base angle in CVT treatment: a comparison of idiopathic and non-idiopathic cases treated with the Dobbs method. ( 24294312 )
2012
30
Sci-Sat AM: Brachy - 10: Adaptation of the CVT algorithm for catheter optimization in high dose rate brachytherapy. ( 28516662 )
2012
31
CCZ1, MON1 and YPT7 genes are involved in pexophagy, the Cvt pathway and non-specific macroautophagy in the methylotrophic yeast Pichia pastoris. ( 21155714 )
2011
32
Multichannel RRKM-TST and CVT rate constant calculations for reactions of CH2OH or CH3O with HO2. ( 21434683 )
2011
33
Human dendritic cells promote an antiviral immune response when stimulated by CVT-E002. ( 21492169 )
2011
34
Compound CVT-E002 attenuates allergen-induced airway inflammation and airway hyperresponsiveness, in vivo. ( 22038929 )
2011
35
Efficacy and Safety of CVT-E002, a Proprietary Extract of Panax quinquefolius in the Prevention of Respiratory Infections in Influenza-Vaccinated Community-Dwelling Adults: A Multicenter, Randomized, Double-Blind, and Placebo-Controlled Trial. ( 23074661 )
2011
36
Artophagy: the art of autophagy--the Cvt pathway. ( 20023390 )
2010
37
The Cvt pathway as a model for selective autophagy. ( 20146925 )
2010
38
Sensitive and cost-effective LC-MS/MS method for quantitation of CVT-6883 in human urine using sodium dodecylbenzenesulfonate additive to eliminate adsorptive losses. ( 19282253 )
2009
39
Crystallization of Saccharomyces cerevisiae alpha-mannosidase, a cargo protein of the Cvt pathway. ( 19478433 )
2009
40
CVT-E002 stimulates the immune system and extends the life span of mice bearing a tumor of viral origin. ( 19883528 )
2009
41
Effect of CVT-E002 (COLD-fX) versus a ginsenoside extract on systemic and gut-associated immune function. ( 18550018 )
2008
42
Harpooning the Cvt complex to the phagophore assembly site. ( 18708760 )
2008
43
Thermochemistry and kinetics of acetonylperoxy radical isomerisation and decomposition: a quantum chemistry and CVT/SCT approach. ( 19039348 )
2008
44
Results of surgical treatment of congenital convex pes valgus (ten nonidiopathic feet). ( 19070711 )
2008
45
CVT-4325 inhibits myocardial fatty acid uptake and improves left ventricular systolic function without increasing myocardial oxygen consumption in dogs with chronic heart failure. ( 17119875 )
2007
46
A comparison between ranolazine and CVT-4325, a novel inhibitor of fatty acid oxidation, on cardiac metabolism and left ventricular function in rat isolated perfused heart during ischemia and reperfusion. ( 17202401 )
2007
47
ATG genes involved in non-selective autophagy are conserved from yeast to man, but the selective Cvt and pexophagy pathways also require organism-specific genes. ( 17204848 )
2007
48
Efficient degradation of misfolded mutant Pma1 by endoplasmic reticulum-associated degradation requires Atg19 and the Cvt/autophagy pathway. ( 17238920 )
2007
49
Crystallization of Saccharomyces cerevisiae aminopeptidase 1, the major cargo protein of the Cvt pathway. ( 17329814 )
2007
50
Caffeine attenuates the duration of coronary vasodilation and changes in hemodynamics induced by regadenoson (CVT-3146), a novel adenosine A2A receptor agonist. ( 17577101 )
2007

Variations for Vertical Talus, Congenital

UniProtKB/Swiss-Prot genetic disease variations for Vertical Talus, Congenital:

76
# Symbol AA change Variation ID SNP ID
1 HOXD10 p.Met319Lys VAR_022582 rs104893634

ClinVar genetic disease variations for Vertical Talus, Congenital:

6 (show top 50) (show all 65)
# Gene Variation Type Significance SNP ID Assembly Location
1 HOXD10 NM_002148.3(HOXD10): c.956T> A (p.Met319Lys) single nucleotide variant Pathogenic rs104893634 GRCh37 Chromosome 2, 176983892: 176983892
2 HOXD10 NM_002148.3(HOXD10): c.956T> A (p.Met319Lys) single nucleotide variant Pathogenic rs104893634 GRCh38 Chromosome 2, 176119164: 176119164
3 46;XX;inv(18)(q11.2q23)dn inversion Likely pathogenic
4 HOXD10 NM_002148.3(HOXD10): c.372T> G (p.Ile124Met) single nucleotide variant Likely benign rs149038150 GRCh38 Chromosome 2, 176117205: 176117205
5 HOXD10 NM_002148.3(HOXD10): c.372T> G (p.Ile124Met) single nucleotide variant Likely benign rs149038150 GRCh37 Chromosome 2, 176981933: 176981933
6 HOXD10 NM_002148.3(HOXD10): c.420C> G (p.Pro140=) single nucleotide variant Uncertain significance rs375702128 GRCh38 Chromosome 2, 176117253: 176117253
7 HOXD10 NM_002148.3(HOXD10): c.420C> G (p.Pro140=) single nucleotide variant Uncertain significance rs375702128 GRCh37 Chromosome 2, 176981981: 176981981
8 HOXD10 NM_002148.3(HOXD10): c.561G> A (p.Lys187=) single nucleotide variant Uncertain significance rs143870330 GRCh38 Chromosome 2, 176117394: 176117394
9 HOXD10 NM_002148.3(HOXD10): c.561G> A (p.Lys187=) single nucleotide variant Uncertain significance rs143870330 GRCh37 Chromosome 2, 176982122: 176982122
10 HOXD10 NM_002148.3(HOXD10): c.786T> A (p.Thr262=) single nucleotide variant Uncertain significance rs755118732 GRCh38 Chromosome 2, 176118994: 176118994
11 HOXD10 NM_002148.3(HOXD10): c.786T> A (p.Thr262=) single nucleotide variant Uncertain significance rs755118732 GRCh37 Chromosome 2, 176983722: 176983722
12 HOXD10 NM_002148.3(HOXD10): c.998T> C (p.Leu333Pro) single nucleotide variant Likely benign rs144160937 GRCh38 Chromosome 2, 176119206: 176119206
13 HOXD10 NM_002148.3(HOXD10): c.998T> C (p.Leu333Pro) single nucleotide variant Likely benign rs144160937 GRCh37 Chromosome 2, 176983934: 176983934
14 HOXD10 NM_002148.3(HOXD10): c.*223_*234dupTATATATATATA duplication Uncertain significance rs6147035 GRCh38 Chromosome 2, 176119454: 176119465
15 HOXD10 NM_002148.3(HOXD10): c.*223_*234dupTATATATATATA duplication Uncertain significance rs6147035 GRCh37 Chromosome 2, 176984182: 176984193
16 HOXD10 NM_002148.3(HOXD10): c.*279G> A single nucleotide variant Likely benign rs150556295 GRCh38 Chromosome 2, 176119510: 176119510
17 HOXD10 NM_002148.3(HOXD10): c.*279G> A single nucleotide variant Likely benign rs150556295 GRCh37 Chromosome 2, 176984238: 176984238
18 HOXD10 NM_002148.3(HOXD10): c.623A> G (p.Gln208Arg) single nucleotide variant Likely benign rs575171191 GRCh38 Chromosome 2, 176117456: 176117456
19 HOXD10 NM_002148.3(HOXD10): c.623A> G (p.Gln208Arg) single nucleotide variant Likely benign rs575171191 GRCh37 Chromosome 2, 176982184: 176982184
20 HOXD10 NM_002148.3(HOXD10): c.*21C> T single nucleotide variant Uncertain significance rs570165195 GRCh38 Chromosome 2, 176119252: 176119252
21 HOXD10 NM_002148.3(HOXD10): c.*21C> T single nucleotide variant Uncertain significance rs570165195 GRCh37 Chromosome 2, 176983980: 176983980
22 HOXD10 NM_002148.3(HOXD10): c.*55G> T single nucleotide variant Benign rs61070787 GRCh38 Chromosome 2, 176119286: 176119286
23 HOXD10 NM_002148.3(HOXD10): c.*55G> T single nucleotide variant Benign rs61070787 GRCh37 Chromosome 2, 176984014: 176984014
24 HOXD10 NM_002148.3(HOXD10): c.*270G> A single nucleotide variant Uncertain significance rs779201977 GRCh38 Chromosome 2, 176119501: 176119501
25 HOXD10 NM_002148.3(HOXD10): c.*270G> A single nucleotide variant Uncertain significance rs779201977 GRCh37 Chromosome 2, 176984229: 176984229
26 HOXD10 NM_002148.3(HOXD10): c.*468A> T single nucleotide variant Likely benign rs532592274 GRCh38 Chromosome 2, 176119699: 176119699
27 HOXD10 NM_002148.3(HOXD10): c.*468A> T single nucleotide variant Likely benign rs532592274 GRCh37 Chromosome 2, 176984427: 176984427
28 HOXD10 NM_002148.3(HOXD10): c.*585C> T single nucleotide variant Likely benign rs72923454 GRCh38 Chromosome 2, 176119816: 176119816
29 HOXD10 NM_002148.3(HOXD10): c.*585C> T single nucleotide variant Likely benign rs72923454 GRCh37 Chromosome 2, 176984544: 176984544
30 HOXD10 NM_002148.3(HOXD10): c.465T> C (p.Ser155=) single nucleotide variant Uncertain significance rs141770128 GRCh38 Chromosome 2, 176117298: 176117298
31 HOXD10 NM_002148.3(HOXD10): c.465T> C (p.Ser155=) single nucleotide variant Uncertain significance rs141770128 GRCh37 Chromosome 2, 176982026: 176982026
32 HOXD10 NM_002148.3(HOXD10): c.543C> A (p.Asn181Lys) single nucleotide variant Uncertain significance rs886055158 GRCh38 Chromosome 2, 176117376: 176117376
33 HOXD10 NM_002148.3(HOXD10): c.543C> A (p.Asn181Lys) single nucleotide variant Uncertain significance rs886055158 GRCh37 Chromosome 2, 176982104: 176982104
34 HOXD10 NM_002148.3(HOXD10): c.581A> G (p.Gln194Arg) single nucleotide variant Uncertain significance rs769981285 GRCh38 Chromosome 2, 176117414: 176117414
35 HOXD10 NM_002148.3(HOXD10): c.581A> G (p.Gln194Arg) single nucleotide variant Uncertain significance rs769981285 GRCh37 Chromosome 2, 176982142: 176982142
36 HOXD10 NM_002148.3(HOXD10): c.987G> C (p.Arg329=) single nucleotide variant Benign/Likely benign rs33913965 GRCh38 Chromosome 2, 176119195: 176119195
37 HOXD10 NM_002148.3(HOXD10): c.987G> C (p.Arg329=) single nucleotide variant Benign/Likely benign rs33913965 GRCh37 Chromosome 2, 176983923: 176983923
38 HOXD10 NM_002148.3(HOXD10): c.*2T> C single nucleotide variant Likely benign rs116807022 GRCh38 Chromosome 2, 176119233: 176119233
39 HOXD10 NM_002148.3(HOXD10): c.*2T> C single nucleotide variant Likely benign rs116807022 GRCh37 Chromosome 2, 176983961: 176983961
40 HOXD10 NM_002148.3(HOXD10): c.*233_*234delTA deletion Uncertain significance rs6147035 GRCh38 Chromosome 2, 176119464: 176119465
41 HOXD10 NM_002148.3(HOXD10): c.*233_*234delTA deletion Uncertain significance rs6147035 GRCh37 Chromosome 2, 176984192: 176984193
42 HOXD10 NM_002148.3(HOXD10): c.*235delAinsTATATATATATATATAT indel Uncertain significance rs886055161 GRCh38 Chromosome 2, 176119466: 176119466
43 HOXD10 NM_002148.3(HOXD10): c.*235delAinsTATATATATATATATAT indel Uncertain significance rs886055161 GRCh37 Chromosome 2, 176984194: 176984194
44 HOXD10 NM_002148.3(HOXD10): c.-10C> A single nucleotide variant Uncertain significance rs781377305 GRCh38 Chromosome 2, 176116824: 176116824
45 HOXD10 NM_002148.3(HOXD10): c.-10C> A single nucleotide variant Uncertain significance rs781377305 GRCh37 Chromosome 2, 176981552: 176981552
46 HOXD10 NM_002148.3(HOXD10): c.116C> T (p.Pro39Leu) single nucleotide variant Uncertain significance rs886055157 GRCh38 Chromosome 2, 176116949: 176116949
47 HOXD10 NM_002148.3(HOXD10): c.116C> T (p.Pro39Leu) single nucleotide variant Uncertain significance rs886055157 GRCh37 Chromosome 2, 176981677: 176981677
48 HOXD10 NM_002148.3(HOXD10): c.266G> A (p.Arg89Gln) single nucleotide variant Uncertain significance rs374700658 GRCh38 Chromosome 2, 176117099: 176117099
49 HOXD10 NM_002148.3(HOXD10): c.266G> A (p.Arg89Gln) single nucleotide variant Uncertain significance rs374700658 GRCh37 Chromosome 2, 176981827: 176981827
50 HOXD10 NM_002148.3(HOXD10): c.*47G> T single nucleotide variant Likely benign rs114746583 GRCh38 Chromosome 2, 176119278: 176119278

Expression for Vertical Talus, Congenital

Search GEO for disease gene expression data for Vertical Talus, Congenital.

Pathways for Vertical Talus, Congenital

GO Terms for Vertical Talus, Congenital

Sources for Vertical Talus, Congenital

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