MCID: VRT007
MIFTS: 29

Vertical Talus, Congenital

Categories: Genetic diseases, Rare diseases, Fetal diseases

Aliases & Classifications for Vertical Talus, Congenital

MalaCards integrated aliases for Vertical Talus, Congenital:

Name: Vertical Talus, Congenital 57 53 75 29 55 6 40
Congenital Convex Pes Valgus 53 59 75
Congenital Vertical Talus 53 59 37
Rocker Bottom Foot 53 29 6
Cvt 57 53 75
Charcot-Marie-Tooth Disease, Foot Deformity of 57 13
Pes Valgus, Congenital Convex 57 53
Rocker-Bottom Foot Deformity 53 75
Congenital Rocker-Bottom Foot 59
Congenital Convex Foot 59
Rocker-Bottom Foot 57
Vertical Talus 53

Characteristics:

Orphanet epidemiological data:

59
congenital vertical talus
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

OMIM:

57
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:

32
vertical talus, congenital:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 192950
Orphanet 59 ORPHA178382
ICD10 via Orphanet 34 Q66.8
UMLS via Orphanet 74 C0240912
MeSH 44 D005532
KEGG 37 H00929

Summaries for Vertical Talus, Congenital

NIH Rare Diseases : 53 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 Neuroserpin and Astragalus have been mentioned in the context of this disorder. Affiliated tissues include bone, and related phenotypes are rocker bottom foot and arthritis

OMIM : 57 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 : 75 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 : 76 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Vertical Talus, Congenital:

59 32
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 rocker bottom foot 59 32 hallmark (90%) Very frequent (99-80%) HP:0001838
2 arthritis 32 HP:0001369
3 calcaneovalgus deformity 32 HP:0001848
4 equinus calcaneus 32 HP:0008138

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 Neuroserpin
2 Astragalus Nutraceutical

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 Vertical Talus, Congenital 29 HOXD10
2 Rocker Bottom Foot 29

Anatomical Context for Vertical Talus, Congenital

MalaCards organs/tissues related to Vertical Talus, Congenital:

41
Bone

Publications for Vertical Talus, Congenital

Articles related to Vertical Talus, Congenital:

# Title Authors Year
1
Congenital convex pes valgus. ( 10204930 )
1999

Variations for Vertical Talus, Congenital

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

75
# 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 GRCh37 Chromosome 2, 176981933: 176981933
5 HOXD10 NM_002148.3(HOXD10): c.372T> G (p.Ile124Met) single nucleotide variant Likely benign rs149038150 GRCh38 Chromosome 2, 176117205: 176117205
6 HOXD10 NM_002148.3(HOXD10): c.420C> G (p.Pro140=) single nucleotide variant Uncertain significance rs375702128 GRCh37 Chromosome 2, 176981981: 176981981
7 HOXD10 NM_002148.3(HOXD10): c.420C> G (p.Pro140=) single nucleotide variant Uncertain significance rs375702128 GRCh38 Chromosome 2, 176117253: 176117253
8 HOXD10 NM_002148.3(HOXD10): c.561G> A (p.Lys187=) single nucleotide variant Uncertain significance rs143870330 GRCh37 Chromosome 2, 176982122: 176982122
9 HOXD10 NM_002148.3(HOXD10): c.561G> A (p.Lys187=) single nucleotide variant Uncertain significance rs143870330 GRCh38 Chromosome 2, 176117394: 176117394
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 GRCh37 Chromosome 2, 176982026: 176982026
31 HOXD10 NM_002148.3(HOXD10): c.465T> C (p.Ser155=) single nucleotide variant Uncertain significance rs141770128 GRCh38 Chromosome 2, 176117298: 176117298
32 HOXD10 NM_002148.3(HOXD10): c.543C> A (p.Asn181Lys) single nucleotide variant Uncertain significance rs886055158 GRCh37 Chromosome 2, 176982104: 176982104
33 HOXD10 NM_002148.3(HOXD10): c.543C> A (p.Asn181Lys) single nucleotide variant Uncertain significance rs886055158 GRCh38 Chromosome 2, 176117376: 176117376
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 rs886055159 GRCh38 Chromosome 2, 176119464: 176119465
41 HOXD10 NM_002148.3(HOXD10): c.*233_*234delTA deletion Uncertain significance rs886055159 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 GRCh37 Chromosome 2, 176981552: 176981552
45 HOXD10 NM_002148.3(HOXD10): c.-10C> A single nucleotide variant Uncertain significance rs781377305 GRCh38 Chromosome 2, 176116824: 176116824
46 HOXD10 NM_002148.3(HOXD10): c.116C> T (p.Pro39Leu) single nucleotide variant Uncertain significance rs886055157 GRCh37 Chromosome 2, 176981677: 176981677
47 HOXD10 NM_002148.3(HOXD10): c.116C> T (p.Pro39Leu) single nucleotide variant Uncertain significance rs886055157 GRCh38 Chromosome 2, 176116949: 176116949
48 HOXD10 NM_002148.3(HOXD10): c.266G> A (p.Arg89Gln) single nucleotide variant Uncertain significance rs374700658 GRCh37 Chromosome 2, 176981827: 176981827
49 HOXD10 NM_002148.3(HOXD10): c.266G> A (p.Arg89Gln) single nucleotide variant Uncertain significance rs374700658 GRCh38 Chromosome 2, 176117099: 176117099
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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70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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