Vertical Talus, Congenital (CVT)

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

Aliases & Classifications for Vertical Talus, Congenital

MalaCards integrated aliases for Vertical Talus, Congenital:

Name: Vertical Talus, Congenital 57 20 72 29 54 6 39
Congenital Vertical Talus 12 20 58 36 15
Congenital Convex Pes Valgus 12 20 58 72
Cvt 57 12 20 72
Rocker-Bottom Foot Deformity 12 20 72
Charcot-Marie-Tooth Disease, Foot Deformity of 57 13
Pes Valgus, Congenital Convex 57 20
Congenital Rocker-Bottom Foot 12 58
Congenital Convex Foot 12 58
Flatfoot 44 17
Rocker-Bottom Foot 57
Rocker Bottom Foot 20
Vertical Talus 20


Orphanet epidemiological data:

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


57 (Updated 20-May-2021)
autosomal dominant

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


vertical talus, congenital:
Inheritance autosomal dominant inheritance


Orphanet: 58  
Developmental anomalies during embryogenesis

External Ids:

Disease Ontology 12 DOID:0111568
OMIM® 57 192950
KEGG 36 H00929
SNOMED-CT 67 205359003
ICD10 32 M21.4
ICD10 via Orphanet 33 Q66.8
UMLS via Orphanet 71 C0240912
Orphanet 58 ORPHA178382
SNOMED-CT via HPO 68 205082007 263681008 3723001
UMLS 70 C0240912

Summaries for Vertical Talus, Congenital

GARD : 20 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 vertical talus, is related to clubfoot and chromosome 18q deletion syndrome. An important gene associated with Vertical Talus, Congenital is HOXD10 (Homeobox D10). The drugs Clonidine and Adrenergic alpha-Agonists have been mentioned in the context of this disorder. Affiliated tissues include bone, skeletal muscle and spinal cord, and related phenotypes are arthritis and rocker bottom foot

Disease Ontology : 12 A connective tissue disease characterized by dislocation of the talonavicular joint with vertical orientation of the talus and 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 that has material basis in heterozygous mutation in HOXD10 on chromosome 2q31.1.

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) (Updated 20-May-2021)

KEGG : 36 Congenital vertical talus is a primary dislocation of the talonavicular joint of autosomal dominant mode of inheritance. It is associated with rigid dorsal dislocation of the navicular over the neck of the talus, causing a flatfoot deformity known as 'rocker-bottom foot'. It occurs in syndromic deformity but is rarely in isolation.

UniProtKB/Swiss-Prot : 72 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 : 73 Unlike the flexible flat foot that is commonly encountered in young children, congenital vertical talus... more...

Related Diseases for Vertical Talus, Congenital

Diseases related to Vertical Talus, Congenital via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 145)
# Related Disease Score Top Affiliating Genes
1 clubfoot 30.4 TBX4 PITX1 HOXD10 HOXC13 HOXC12
2 chromosome 18q deletion syndrome 30.3 ZNF516 TSHZ1
3 external auditory canal, bilateral atresia of, with congenital vertical talus 11.5
4 rasmussen johnsen thomsen syndrome 11.3
5 rasmussen subacute encephalitis 11.3
6 congenital vertical talus, unilateral 11.3
7 congenital vertical talus, bilateral 11.3
8 tarsal coalition 10.5
9 diastematomyelia 10.4
10 auditory neuropathy spectrum disorder 10.4 RAB33A AIFM1
11 foot drop 10.4 RAB33A AIFM1
12 avascular necrosis 10.4
13 spondyloepimetaphyseal dysplasia, x-linked 10.4 RAB33A AIFM1
14 spondyloepimetaphyseal dysplasia, x-linked, with hypomyelinating leukodystrophy 10.4 RAB33A AIFM1
15 charcot-marie-tooth disease, x-linked recessive, 4, with or without cerebellar ataxia 10.4 RAB33A AIFM1
16 bunion 10.3
17 preaxial deficiency, postaxial polydactyly, and hypospadias 10.3 HOXD10 HOXC13
18 distal arthrogryposis 10.3
19 thrombosis 10.3
20 chromosome 17q23.1-q23.2 deletion syndrome 10.3 TBX4 PITX1
21 tracheal stenosis 10.3 TBX4 FBN1
22 ectodermal dysplasia 4, hair/nail type 10.3 HOXC13 HOXC12 HOXC-AS2
23 tracheal disease 10.3 TBX4 FBN1
24 charcot-marie-tooth disease x-linked recessive 4 10.2 RAB33A AIFM1
25 osteonecrosis 10.2
26 charcot-marie-tooth disease 10.2
27 combined oxidative phosphorylation deficiency 6 10.2 RAB33A AIFM1
28 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 10.2
29 neural tube defects 10.2
30 myelomeningocele 10.2
31 chromosomal triplication 10.2
32 spina bifida cystica 10.2
33 neuritis 10.1
34 sensorineural hearing loss 10.1 TBX4 RAB33A PTPRQ HARS1 AIFM1
35 body mass index quantitative trait locus 11 10.1
36 body mass index quantitative trait locus 9 10.1
37 body mass index quantitative trait locus 8 10.1
38 body mass index quantitative trait locus 4 10.1
39 body mass index quantitative trait locus 10 10.1
40 body mass index quantitative trait locus 7 10.1
41 body mass index quantitative trait locus 12 10.1
42 body mass index quantitative trait locus 14 10.1
43 body mass index quantitative trait locus 18 10.1
44 body mass index quantitative trait locus 19 10.1
45 tendinitis 10.1
46 tendinosis 10.1
47 47,xyy 10.1
48 arthrogryposis, distal, type 2a 10.1
49 arthrogryposis, distal, type 2b1 10.1
50 arthrogryposis, distal, type 2b2 10.1

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:

# Description HPO Frequency HPO Source Accession
1 arthritis 31 HP:0001369
2 rocker bottom foot 31 HP:0001838
3 calcaneovalgus deformity 31 HP:0001848
4 equinus calcaneus 31 HP:0008138

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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

Clinical features from OMIM®:

192950 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Vertical Talus, Congenital:

# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 9.5 CHAT FBN1 HOXC12 HOXC13 HOXD10 PITX1
2 skeleton MP:0005390 9.28 CHAT CPT2 FBN1 HOXC13 HOXD10 PITX1

Drugs & Therapeutics for Vertical Talus, Congenital

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

(show all 17)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Clonidine Approved Phase 4 4205-90-7 2803
2 Adrenergic alpha-Agonists Phase 4
3 Adrenergic Agonists Phase 4
4 Pharmaceutical Solutions Phase 4
5 Adrenergic Agents Phase 4
6 Neurotransmitter Agents Phase 4
7 Antihypertensive Agents Phase 4
8 Analgesics Phase 4
9 Sympatholytics Phase 4
Chloroprocaine Approved Phase 2 133-16-4 8612
Procaine Approved, Investigational, Vet_approved Phase 2 59-46-1 4914
12 Anesthetics Phase 2
13 Anesthetics, Local Phase 2
Ethylene 74-85-1 6325
15 Astragalus
16 Calcium, Dietary
Calcium Nutraceutical 7440-70-2 271

Interventional clinical trials:

(show top 50) (show all 51)
# Name Status NCT ID Phase Drugs
1 Therapeutic Effects of Customized Insoles on Children With Flat Foot Unknown status NCT02414087 Phase 4
2 Clonidine for Tourniquet-related Pain in Children: A Pilot Study Not yet recruiting NCT04564430 Phase 4 Catapresan
3 A Randomized, Prospective, Controlled Trial for Lateral Column Lengthening in Adult Acquired Flatfoot Using Biofoam Porous Metal Compared With Allograft Withdrawn NCT00949897 Phase 4
4 Randomized, Multi-center, Double-blind, Two-armed, Parallel Active Groups, Prospective Trial, to Evaluate, in Pediatric Population Undergoing 'Calcaneo Stop' Surgery or Inguinal Hernia Repair, the Efficacy and Safety of Chloroprocaine 1% and 2% for Peripheral Nerve Block Based on Concentration-Response Relationships. Recruiting NCT03918798 Phase 2 Chloroprocaine 1% Injectable Solution;Chloroprocaine 2% Injectable Solution
5 Chung Shan Medical University Hospital Institutional Review Board Unknown status NCT02644317
6 Genetic Disease Gene Identification Unknown status NCT00916903
7 Neuromuscular Assessments of Foot Intrinsic Muscles: (1) Between Individuals With and Without Functional Flatfoot and (2) Before and After a 3-week Short Foot Exercise Training in Individuals With Functional Flatfoot Unknown status NCT03154853
8 Calcaneal Neck Lengthening Osteotomy - Allogen Bone Graft Material Versus a Hydroxyappatite / β- Tricalcium Phosphate Bone Substitute Unknown status NCT01645267
9 Changes of Kinematics, Muscle Activity, Joint Contact Force of Foot Orthoses for Individual of Flat Foot After Functional Fatigue Protocol Unknown status NCT03842241
10 Calcaneal Neck Lengthening Osteotomy - Allogen Bone Graft Material Versus a Hydroxyapatite / β- Tricalcium Phosphate Bone Substitute Unknown status NCT01618812
11 Natural History and Effectiveness of Parents' Manipulation in Newborn With Talipes Calcaneovalgus,a Randomized Controlled Trial Unknown status NCT01767662
12 Joint Preserving Surgery for Correction of Spasmodic Flat- Foot in Skeletally Mature Foot Unknown status NCT03880318
13 Valutazione Dell'Efficacia Dell'Endortesi Senotarsica Nella Correzione Della Sindrome Pronatoria Nel Bambino (Flatfoot) Completed NCT03372642
14 Comparison of Two Different Insole Types on Pain, Quality of Life and Physical Performance in Painful Flexible Flatfoot Completed NCT02706327
15 Effect of Intrinsic Foot Muscles Training and Foot Orthosis on the Medial Longitudinal Arch in Flexible Flatfoot Subjects Completed NCT04480177
16 Randomized Clinical Trial of the Effect of Functional Orthoses on the Joint Position of the Hindfoot in Children With Flat Feet After a Year of Follow-up Completed NCT02633566
17 The Effects of 12-week Custom-made Orthotic Intervention on the Structure and Function of the Foot of Healthy Young Adults During Gait Termination Completed NCT02957812
18 In-Vivo Physiologic Weight-Bearing Assessment of Tarsal Instability: Three-Dimensional Cone-Beam Computed Tomography Analysis Completed NCT01868789
19 The Effects of Using Insoles on Walking in Children With Increased Femoral Anteversion and Pes Planovalgus Completed NCT03812822
20 Effect of Virtual Reality on Pes Planus Completed NCT04283357
21 Investigating the Gender-related Response of Muscle Fatigue of the Medial Longitudinal Arch Height in Healthy Young Completed NCT03607253
22 Pes Planus After Weber B and C Ankle Fractures Completed NCT00507910
23 The Outcome Effect of Shoe Lift for Individuals With Low Back Pain and Pronated Foot Due to Anatomical Leg Length Discrepancy Completed NCT01187693
24 Clinical And Radiological Outcomes Of Corrective Exercises With Neuromuscular Electrical Stimulation In Children And Flexible Flatfeet: A Randomized Controlled Trial Completed NCT04410926
25 The Effect of Orthosis and Exercise in Pes Planus Completed NCT03494374
26 Erişkinlerde Ayak Medial Longitudinal Ark Yüksekliğinin Değerlendirilmesi ve Sınıflandırılması Completed NCT03629938
27 Association of Ingrown Toenails With Flat Foot, Hallux Abducto Valgus and Hallux Limitus Completed NCT03843177
28 Controlled Trial to Compare the Achilles Tendon Load During Running in Flatfeet Subjects Using a Customized Arch Support Orthoses vs an Orthotic Heel Lift Completed NCT04003870
29 Effect of the Prefabricated Plantar Insoles to Control Pronation Measured With Foot Posture Index Completed NCT03954821
30 Prospective Comparison of Subtalar Arthroereisis To Lateral Column Lengthening for Painful Flatfeet Completed NCT02055495
31 Effectiveness of Polyurethane Foam in Preventing the Onset of Pressure Sores in a Pediatric Orthopedic Population: Randomized Controlled Trial Completed NCT03039179
32 Effectiveness of Cotton Sock in Pediatric Patients With Leg-foot Splint After Surgery for Correction of the Foot, in Reducing the Incidence of Cutaneous Lesions. Randomized Controlled Trial. Completed NCT03040882
33 Assessment Effects on Pes Planus and Femoral Anteversion Angle of Exercise Training Mixed With Play on Pre-school Children Completed NCT03151538
34 The Effect of Customized Insoles on Biomechanics and Pain in Patients With Functional Flatfoot Recruiting NCT04381039
35 Pilot Study of Morphological and Functional Evaluation of Adult Flat Foot by Weight Bearing CT and Gait Analysis Before and After Corrective Surgery Recruiting NCT04174482
36 Smart Phone-Based Application for Evaluation and Rehabilitation of HindFoot Pain Recruiting NCT04423900
37 The Effects of Different Types of Foot Orthosis in Adults With Compensatory Forefoot Varus Recruiting NCT04453787
38 Frequency of Pes Planus and Posterior Tibial Tendon Dysfunction in Patients With Ankylosing Spondylitis Ultrasonographic Study Recruiting NCT04810715
39 Quantitative Prescription of Foot Orthoses: A Dose-Response Study of Kinematics in Patients With Foot and Ankle Pain Using Biplane Fluoroscopy Recruiting NCT02629731
40 Outcomes of the Evans Calcaneal Lengthening Based on Bone Grafting Material Recruiting NCT02075853
41 The Effect of Sensorimotor Insoles on Gait Parameters in Adults With Flexible Flatfoot: A Randomised Control Trial Active, not recruiting NCT04125407
42 The Effects of Foot-Core Training on Muscle Activations, Walking, Balance and Lower Extremity Performance in Individuals With Pes Planus Active, not recruiting NCT04734899
43 Comparison of the Effects of Exercise Therapy and Arch Support Insoles on Foot Posture, Balance and Plantar Pressure Variables in Individuals With Flexible Pes Planus Enrolling by invitation NCT04179591
44 The Influence of Bilateral and Unilateral Flat Foot on Coronal Spinopelvic Alignment in Asymptomatic Young Healthy Males Enrolling by invitation NCT04746508
45 Return To Sport Activities in Patients Surgically Treated For Flat Foot in Paeditric Age Not yet recruiting NCT04269421
46 Orthotics for Treatment of Symptomatic Flat Feet in Children the OSTRICH Study Not yet recruiting NCT04104555
47 Prevalence of Calf Muscle Tightness in Asymptomatic Flat Foot Subjects Not yet recruiting NCT04720651
48 The Use of a New Foot and Ankle Range of Motion (Stretching) Apparatus in Subjects With Stiff Ankles Terminated NCT00527748
49 Structural HATCP Graft vs Tricortical Iliac Crest Autograft in Paediatric Calcaneal Lengthening Osteotomies: Interim Results From a Randomised Controlled Noninferiority Study Terminated NCT01770574
50 The CurePPaC Study - Analysing Non-surgical Treatment Strategies to Cure Pes Planovalgus Associated Complaints Terminated NCT01839669

Search NIH Clinical Center for Vertical Talus, Congenital

Cochrane evidence based reviews: flatfoot

Genetic Tests for Vertical Talus, Congenital

Genetic tests related to Vertical Talus, Congenital:

# Genetic test Affiliating Genes
1 Vertical Talus, Congenital 29 HOXD10

Anatomical Context for Vertical Talus, Congenital

MalaCards organs/tissues related to Vertical Talus, Congenital:

Bone, Skeletal Muscle, Spinal Cord, Prostate, Cervix, Skin

Publications for Vertical Talus, Congenital

Articles related to Vertical Talus, Congenital:

(show top 50) (show all 130)
# Title Authors PMID Year
HOXD10 M319K mutation in a family with isolated congenital vertical talus. 57 6 61
16450407 2006
A HOX gene mutation in a family with isolated congenital vertical talus and Charcot-Marie-Tooth disease. 6 57 61
15146389 2004
Congenital vertical talus in four generations of the same family. 57 54 61
15368082 2004
Autosomal dominant transmission of isolated congenital vertical talus. 57 61
12180606 2002
Autosomal dominant transmission of isolated congenital vertical talus. 61 57
2591068 1989
Congenital vertical talus: classification with 69 cases and new measurement system. 61 57
6736236 1984
Congenital vertical talus and its familial occurrence: an analysis of 36 patients. 61 57
455829 1979
Outcomes of a Minimally Invasive Approach for Congenital Vertical Talus With a Comparison Between the Idiopathic and Syndromic Feet. 61
33560706 2021
Talectomy by Medial Surgical Approach for Congenital Vertical Talus in Arthrogryposis Multiplex Congenita. 61
32818283 2020
Comparison of outcome between idiopathic and non-idiopathic congenital vertical talus treated with soft tissue release. 61
33136793 2020
Naviculectomy for two ambulatory children with intractable congenital vertical talus: redefining the indications of an old technique. 61
31356503 2020
Forefoot malformations, deformities and other congenital defects in children. 61
31648997 2020
Conjoined twins presenting with foot deformities: insights to management and challenges. 61
31826902 2019
One-stage release by double surgical approach for neglected congenital vertical talus: results in a series of walking children in Tanzania. 61
31356505 2019
Management of pediatric foot deformities: an imaging review. 61
31686173 2019
Bilateral Congenital Vertical Talus in Association with Beals Contractural Arachnodactyly: A Case Report. 61
30540606 2018
Prenatal congenital vertical talus (rocker bottom foot): a marker for multisystem anomalies. 61
28879597 2017
The 2017 ABJS Nicolas Andry Award: Advancing Personalized Medicine for Clubfoot Through Translational Research. 61
28236079 2017
Congenital talipes equinovarus and congenital vertical talus secondary to sacral agenesis. 61
28476907 2017
What's New in Pediatric Flatfoot? 61
26296215 2016
Multiple pterygium syndrome: Challenge for anesthesiologist. 61
27375397 2016
[Surgical management of spinal deformity in a patient with Escobar syndrome: review of the literature]. 61
28267910 2016
A comparison of the Dobbs method for correction of idiopathic and teratological congenital vertical talus. 61
27039313 2016
Deletions of 5' HOXC genes are associated with lower extremity malformations, including clubfoot and vertical talus. 61
26729820 2016
Interstitial de novo 18q22.3q23 deletion: clinical, neuroradiological and molecular characterization of a new case and review of the literature. 61
27766118 2016
Congenital Vertical Talus: Etiology and Management. 61
26337950 2015
A witnessed case of a classic metaphyseal fracture caused during IV line placement in a child: Insight into mechanism of injury. 61
26344460 2015
Treatment of Congenital Vertical Talus: Comparison of Minimally Invasive and Extensive Soft-Tissue Release Procedures at Minimum Five-Year Follow-up. 61
26290087 2015
Correction of neglected vertical talus deformity in an adult. 61
25694638 2015
[Vertical Talus: Mid-Term Results of Surgical Therapy]. 61
26516953 2015
[Surgical correction of congenital vertical talus by one-stage comprehensive soft-tissue release and peritalar reduction incorporating tibialis anterior transfer]. 61
25142853 2014
Reverse Ponseti-type treatment for children with congenital vertical talus: comparison between idiopathic and teratological patients. 61
24493197 2014
Congenital vertical talus in Cri du Chat Syndrome: a case report. 61
23849392 2013
[Vertical talus: current diagnostic and therapy options]. 61
23685500 2013
Narrowing the critical region for congenital vertical talus in patients with interstitial 18q deletions. 61
23495172 2013
Dynamic US study in the evaluation of infants with vertical or oblique talus deformities. 61
23184066 2013
The talar axis-first metatarsal base angle in CVT treatment: a comparison of idiopathic and non-idiopathic cases treated with the Dobbs method. 61
24294312 2012
Bilateral congenital vertical talus with severe lower extremity external rotational deformity: treated by reverse Ponseti technique. 61
22560259 2012
The incidence of common orthopaedic problems in newborn at Siriraj Hospital. 61
23326983 2012
Primary outcomes of the congenital vertical talus correction using the Dobbs method of serial casting and limited surgery. 61
23904897 2012
Minimally invasive approach for the treatment of non-isolated congenital vertical talus. 61
22637213 2012
Congenital vertical talus in multiple pterygium syndrome. 61
21654467 2011
Simultaneous correction of congenital vertical talus and talipes equinovarus using the Ponseti method. 61
20797881 2011
Skeletal muscle abnormalities and genetic factors related to vertical talus. 61
20645034 2011
50 years ago in CORR: Congenital vertical talus. Tom Outland MD and Henry H. Sherk MD CORR 1960;16:214-218. 61
20625948 2010
The short-term effect of an anchor in treatment of congenital vertical talus in infants. 61
22009952 2010
MRI pathoanatomy study of congenital vertical talus. 61
20574263 2010
Congenital vertical talus. Clinical presentation. 61
20563373 2010
Rigid pediatric pes planovalgus: conservative and surgical treatment options. 61
19963171 2010
Congenital vertical talus: a review. 61
19963176 2010

Variations for Vertical Talus, Congenital

ClinVar genetic disease variations for Vertical Talus, Congenital:

6 (show top 50) (show all 56)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HOXD10 NM_002148.3(HOXD10):c.956T>A (p.Met319Lys) SNV Pathogenic 14878 rs104893634 GRCh37: 2:176983892-176983892
GRCh38: 2:176119164-176119164
2 PTPRQ NM_001145026.2(PTPRQ):c.6475C>T (p.Arg2159Ter) SNV Pathogenic 523416 rs1445287184 GRCh37: 12:81064144-81064144
GRCh38: 12:80670365-80670365
3 HOXD10 NM_002148.4(HOXD10):c.*4TGAGGCCGGTC[3] (p.Ter341=) Microsatellite Pathogenic 998198 GRCh37: 2:176983958-176983959
GRCh38: 2:176119230-176119231
4 CHAT NM_020549.4(CHAT):c.1061C>T (p.Thr354Met) SNV Pathogenic 523528 rs769234940 GRCh37: 10:50835781-50835781
GRCh38: 10:49627735-49627735
5 CHAT NM_020549.4(CHAT):c.2081C>G (p.Ser694Cys) SNV Pathogenic 523529 rs201439531 GRCh37: 10:50872926-50872926
GRCh38: 10:49664880-49664880
6 HARS1 NM_002109.6(HARS1):c.910_912dup (p.Leu305dup) Duplication Pathogenic 804287 rs1581504953 GRCh37: 5:140056612-140056613
GRCh38: 5:140677027-140677028
7 HARS1 NM_002109.6(HARS1):c.1393A>C (p.Ile465Leu) SNV Pathogenic 804288 rs754304255 GRCh37: 5:140054329-140054329
GRCh38: 5:140674744-140674744
8 FBN1 NM_000138.4(FBN1):c.6800A>T (p.Asn2267Ile) SNV Pathogenic 373981 rs1057518812 GRCh37: 15:48722939-48722939
GRCh38: 15:48430742-48430742
9 overlap with 47 genes GRCh37/hg19 22q11.21(chr22:18894835-21505417) copy number loss Pathogenic 523274 GRCh37: 22:18894835-21505417
10 FBN1 NM_000138.5(FBN1):c.3757_3760del (p.Gln1253fs) Deletion Pathogenic 978559 GRCh37: 15:48776093-48776096
GRCh38: 15:48483896-48483899
11 CPT2 NM_000098.3(CPT2):c.1436A>T (p.Tyr479Phe) SNV Likely pathogenic 523331 rs749895856 GRCh37: 1:53676782-53676782
GRCh38: 1:53211110-53211110
12 RAB33A , AIFM1 NM_004208.4(AIFM1):c.1019T>C (p.Met340Thr) SNV Likely pathogenic 374094 rs1057518895 GRCh37: X:129271109-129271109
GRCh38: X:130137134-130137134
13 HOXD10 NM_002148.3(HOXD10):c.*235delinsTATATATATAT Indel Uncertain significance 332501 rs886055161 GRCh37: 2:176984194-176984194
GRCh38: 2:176119466-176119466
14 JAG1 NM_000214.3(JAG1):c.3506G>A (p.Arg1169Gln) SNV Uncertain significance 932283 GRCh37: 20:10620297-10620297
GRCh38: 20:10639649-10639649
15 CPT2 NM_000098.3(CPT2):c.236A>C (p.Lys79Thr) SNV Uncertain significance 460433 rs150888506 GRCh37: 1:53667997-53667997
GRCh38: 1:53202325-53202325
16 KIF4A NM_012310.5(KIF4A):c.1553G>C (p.Arg518Pro) SNV Uncertain significance 523498 rs766819113 GRCh37: X:69573536-69573536
GRCh38: X:70353686-70353686
17 HOXD10 NM_002148.3(HOXD10):c.*235delinsTATATATATATATATAT Indel Uncertain significance 332502 rs886055161 GRCh37: 2:176984194-176984194
GRCh38: 2:176119466-176119466
18 HOXD10 NM_002148.3(HOXD10):c.*229_*234dupTATATA Microsatellite Uncertain significance 332499 rs6147035 GRCh37: 2:176984163-176984164
GRCh38: 2:176119435-176119436
19 HOXD10 NM_002148.3(HOXD10):c.*205_*206TA[23] Microsatellite Uncertain significance 332496 rs6147035 GRCh37: 2:176984163-176984164
GRCh38: 2:176119435-176119436
20 HOXD10 NM_002148.3(HOXD10):c.*468A>T SNV Uncertain significance 332505 rs532592274 GRCh37: 2:176984427-176984427
GRCh38: 2:176119699-176119699
21 HOXD10 NM_002148.3(HOXD10):c.*21C>T SNV Uncertain significance 332491 rs570165195 GRCh37: 2:176983980-176983980
GRCh38: 2:176119252-176119252
22 HOXD10 NM_002148.3(HOXD10):c.*233_*234delTA Microsatellite Uncertain significance 332497 rs6147035 GRCh37: 2:176984164-176984165
GRCh38: 2:176119436-176119437
23 HOXD10 NM_002148.3(HOXD10):c.*231_*234dupTATA Microsatellite Uncertain significance 332494 rs6147035 GRCh37: 2:176984163-176984164
GRCh38: 2:176119435-176119436
24 HOXD10 NM_002148.3(HOXD10):c.-10C>A SNV Uncertain significance 332477 rs781377305 GRCh37: 2:176981552-176981552
GRCh38: 2:176116824-176116824
25 HOXD10 NM_002148.3(HOXD10):c.*270G>A SNV Uncertain significance 332503 rs779201977 GRCh37: 2:176984229-176984229
GRCh38: 2:176119501-176119501
26 HOXD10 NM_002148.3(HOXD10):c.543C>A (p.Asn181Lys) SNV Uncertain significance 332483 rs886055158 GRCh37: 2:176982104-176982104
GRCh38: 2:176117376-176117376
27 HOXD10 NM_002148.3(HOXD10):c.*233T>A SNV Uncertain significance 332500 rs867263804 GRCh37: 2:176984192-176984192
GRCh38: 2:176119464-176119464
28 HOXD10 NM_002148.3(HOXD10):c.*231_*234delTATA Microsatellite Uncertain significance 332498 rs6147035 GRCh37: 2:176984164-176984167
GRCh38: 2:176119436-176119439
29 HOXD10 NM_002148.3(HOXD10):c.116C>T (p.Pro39Leu) SNV Uncertain significance 332478 rs886055157 GRCh37: 2:176981677-176981677
GRCh38: 2:176116949-176116949
30 HOXD10 NM_002148.3(HOXD10):c.*223_*234dupTATATATATATA Microsatellite Uncertain significance 332495 rs6147035 GRCh37: 2:176984163-176984164
GRCh38: 2:176119435-176119436
31 HOXD10 NM_002148.3(HOXD10):c.561G>A (p.Lys187=) SNV Uncertain significance 332484 rs143870330 GRCh37: 2:176982122-176982122
GRCh38: 2:176117394-176117394
32 HOXD10 NM_002148.3(HOXD10):c.420C>G (p.Pro140=) SNV Uncertain significance 332481 rs375702128 GRCh37: 2:176981981-176981981
GRCh38: 2:176117253-176117253
33 HOXD10 NM_002148.3(HOXD10):c.786T>A (p.Thr262=) SNV Uncertain significance 332487 rs755118732 GRCh37: 2:176983722-176983722
GRCh38: 2:176118994-176118994
34 HOXD10 NM_002148.4(HOXD10):c.*76G>C SNV Uncertain significance 892817 GRCh37: 2:176984035-176984035
GRCh38: 2:176119307-176119307
35 HOXD10 NM_002148.4(HOXD10):c.*83G>A SNV Uncertain significance 892818 GRCh37: 2:176984042-176984042
GRCh38: 2:176119314-176119314
36 HOXD10 NM_002148.4(HOXD10):c.*208A>G SNV Uncertain significance 892819 GRCh37: 2:176984167-176984167
GRCh38: 2:176119439-176119439
37 HOXD10 NM_002148.4(HOXD10):c.*235A>T SNV Uncertain significance 892820 GRCh37: 2:176984194-176984194
GRCh38: 2:176119466-176119466
38 HOXD10 NM_002148.4(HOXD10):c.*278G>A SNV Uncertain significance 893622 GRCh37: 2:176984237-176984237
GRCh38: 2:176119509-176119509
39 HOXD10 NM_002148.4(HOXD10):c.-6C>G SNV Uncertain significance 893879 GRCh37: 2:176981556-176981556
GRCh38: 2:176116828-176116828
40 HOXD10 NM_002148.4(HOXD10):c.87C>T (p.Ser29=) SNV Uncertain significance 893880 GRCh37: 2:176981648-176981648
GRCh38: 2:176116920-176116920
41 HOXD10 NM_002148.4(HOXD10):c.*34G>A SNV Uncertain significance 894788 GRCh37: 2:176983993-176983993
GRCh38: 2:176119265-176119265
42 HOXD10 NM_002148.4(HOXD10):c.684G>C (p.Glu228Asp) SNV Uncertain significance 930511 GRCh37: 2:176982245-176982245
GRCh38: 2:176117517-176117517
43 HOXD10 NM_002148.3(HOXD10):c.623A>G (p.Gln208Arg) SNV Likely benign 332486 rs575171191 GRCh37: 2:176982184-176982184
GRCh38: 2:176117456-176117456
44 HOXD10 NM_002148.3(HOXD10):c.266G>A (p.Arg89Gln) SNV Likely benign 332479 rs374700658 GRCh37: 2:176981827-176981827
GRCh38: 2:176117099-176117099
45 HOXD10 NM_002148.3(HOXD10):c.581A>G (p.Gln194Arg) SNV Likely benign 332485 rs769981285 GRCh37: 2:176982142-176982142
GRCh38: 2:176117414-176117414
46 HOXD10 NM_002148.3(HOXD10):c.*279G>A SNV Benign 332504 rs150556295 GRCh37: 2:176984238-176984238
GRCh38: 2:176119510-176119510
47 HOXD10 NM_002148.3(HOXD10):c.998T>C (p.Leu333Pro) SNV Benign 332489 rs144160937 GRCh37: 2:176983934-176983934
GRCh38: 2:176119206-176119206
48 HOXD10 NM_002148.3(HOXD10):c.465T>C (p.Ser155=) SNV Benign 332482 rs141770128 GRCh37: 2:176982026-176982026
GRCh38: 2:176117298-176117298
49 HOXD10 NM_002148.3(HOXD10):c.372T>G (p.Ile124Met) SNV Benign 332480 rs149038150 GRCh37: 2:176981933-176981933
GRCh38: 2:176117205-176117205
50 HOXD10 NM_002148.3(HOXD10):c.*495A>T SNV Benign 332506 rs13403839 GRCh37: 2:176984454-176984454
GRCh38: 2:176119726-176119726

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

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

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

Biological processes related to Vertical Talus, Congenital according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.8 TSHZ1 TBX4 PITX1 HOXD10 HOXC13 HOXC12
2 regulation of transcription by RNA polymerase II GO:0006357 9.8 ZNF516 TSHZ1 TBX4 PITX1 HOXD10 HOXC13
3 skeletal system development GO:0001501 9.54 PITX1 HOXD10 FBN1
4 embryonic hindlimb morphogenesis GO:0035116 9.4 TBX4 PITX1
5 anatomical structure morphogenesis GO:0009653 9.33 PITX1 HOXC13 FBN1
6 anterior/posterior pattern specification GO:0009952 9.13 TSHZ1 HOXD10 HOXC13
7 hindlimb morphogenesis GO:0035137 8.62 PITX1 HOXD10

Molecular functions related to Vertical Talus, Congenital according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.5 ZNF516 TSHZ1 TBX4 PITX1 HOXD10 HOXC13
2 DNA binding GO:0003677 9.28 ZNF516 ZNF407 TSHZ1 TBX4 PITX1 HOXD10

Sources for Vertical Talus, Congenital

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
69 Tocris
71 UMLS via Orphanet
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