MCID: CLB019
MIFTS: 23

Clubfoot, Congenital, with or Without Deficiency of Long Bones and/or Mirror-Image Polydactyly malady

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

Aliases & Classifications for Clubfoot, Congenital, with or Without Deficiency of Long Bones...

About this section

Aliases & Descriptions for Clubfoot, Congenital, with or Without Deficiency of Long Bones and/or Mirror-Image Polydactyly:

Name: Clubfoot, Congenital, with or Without Deficiency of Long Bones and/or Mirror-Image Polydactyly 50 68 12
Hereditary Clubfoot Due to Pitx1 Point Mutation 52
Familial Clubfoot Due to Pitx1 Point Mutation 52
Hereditary Clubfoot Due to 5q31 Microdeletion 52
 
Familial Clubfoot Due to 5q31 Microdeletion 52
Talipes Equinovarus 68
Tev 68
Ccf 68

Characteristics:

HPO:

62
clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly:
Inheritance: autosomal dominant inheritance
Onset and clinical course: incomplete penetrance


Classifications:



External Ids:

OMIM50 119800
ICD10 via Orphanet29 Q66.8
MedGen35 C0009081
MeSH37 D003025

Summaries for Clubfoot, Congenital, with or Without Deficiency of Long Bones...

About this section
UniProtKB/Swiss-Prot:68 Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly: A congenital limb deformity defined as fixation of the foot in cavus, adductus, varus, and equinus (i.e., inclined inwards, axially rotated outwards, and pointing downwards) with concomitant soft tissue abnormalities. Clubfoot may occur in isolation or as part of a syndrome. Some patients present tibial hemimelia, bilateral patellar hypoplasia, and preaxial mirror-image polydactyly.

MalaCards based summary: Clubfoot, Congenital, with or Without Deficiency of Long Bones and/or Mirror-Image Polydactyly, also known as hereditary clubfoot due to pitx1 point mutation, is related to talipes equinovarus and clubfoot, and has symptoms including foot polydactyly, patellar hypoplasia and talipes equinovarus. An important gene associated with Clubfoot, Congenital, with or Without Deficiency of Long Bones and/or Mirror-Image Polydactyly is PITX1 (Paired Like Homeodomain 1). Affiliated tissues include bone.

OMIM:50 Clubfoot is a congenital limb deformity defined as fixation of the foot in cavus, adductus, varus, and equinus (i.e.,... (119800) more...

Related Diseases for Clubfoot, Congenital, with or Without Deficiency of Long Bones...

About this section

Diseases related to Clubfoot, Congenital, with or Without Deficiency of Long Bones and/or Mirror-Image Polydactyly via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 28)
idRelated DiseaseScoreTop Affiliating Genes
1talipes equinovarus12.7
2clubfoot12.0
3tarp syndrome11.9
4crane-heise syndrome11.2
5camptodactyly joint contractures and facial skeletal dysplasia11.2
6pitx1-related congenital clubfoot11.2
7myotonic dystrophy10.3
8myelomeningocele10.2
9popliteal pterygium syndrome 110.2
10vertical talus, congenital10.2
11acromelic frontonasal dysostosis10.2
12ritscher-schinzel syndrome10.1
13hemangioma10.1
14scoliosis10.1
15idiopathic scoliosis10.1
16osteomyelitis10.1
17eunuchism10.1
18dystonia10.1
19compartment syndrome10.1
20neuropathy10.1
21metatarsus adductus10.1
22spasticity10.1
23hiv-110.0
24astrocytoma9.9
25neuronitis9.9
26corpus callosum agenesis9.9
27liebenberg syndrome9.5ERGIC2, PITX1
28deafness, autosomal dominant 159.2ERGIC2, PITX1

Graphical network of the top 20 diseases related to Clubfoot, Congenital, with or Without Deficiency of Long Bones and/or Mirror-Image Polydactyly:



Diseases related to clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly

Symptoms for Clubfoot, Congenital, with or Without Deficiency of Long Bones...

About this section

Symptoms by clinical synopsis from OMIM:

119800

Clinical features from OMIM:

119800

HPO human phenotypes related to Clubfoot, Congenital, with or Without Deficiency of Long Bones and/or Mirror-Image Polydactyly:

id Description Frequency HPO Source Accession
1 foot polydactyly rare (5%) HP:0001829
2 patellar hypoplasia rare (5%) HP:0003065
3 talipes equinovarus HP:0001762

Drugs & Therapeutics for Clubfoot, Congenital, with or Without Deficiency of Long Bones...

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Clubfoot, Congenital, with or Without Deficiency of Long Bones and/or Mirror-Image Polydactyly

Genetic Tests for Clubfoot, Congenital, with or Without Deficiency of Long Bones...

About this section

Anatomical Context for Clubfoot, Congenital, with or Without Deficiency of Long Bones...

About this section

MalaCards organs/tissues related to Clubfoot, Congenital, with or Without Deficiency of Long Bones and/or Mirror-Image Polydactyly:

34
Bone

Animal Models for Clubfoot, Congenital, with or Without Deficiency of Long Bones... or affiliated genes

About this section

Publications for Clubfoot, Congenital, with or Without Deficiency of Long Bones...

About this section

Variations for Clubfoot, Congenital, with or Without Deficiency of Long Bones...

About this section

UniProtKB/Swiss-Prot genetic disease variations for Clubfoot, Congenital, with or Without Deficiency of Long Bones and/or Mirror-Image Polydactyly:

68
id Symbol AA change Variation ID SNP ID
1PITX1p.Glu130LysVAR_058113rs121909109

Clinvar genetic disease variations for Clubfoot, Congenital, with or Without Deficiency of Long Bones and/or Mirror-Image Polydactyly:

5
id Gene Variation Type Significance SNP ID Assembly Location
1PITX1NM_002653.4(PITX1): c.765_799del35 (p.Ala256Argfs)deletionPathogenicrs730882191GRCh38Chr 5, 135028925: 135028959
2PITX1NM_002653.4(PITX1): c.388G> A (p.Glu130Lys)single nucleotide variantPathogenicrs121909109GRCh37Chr 5, 134366980: 134366980

Expression for genes affiliated with Clubfoot, Congenital, with or Without Deficiency of Long Bones...

About this section
Search GEO for disease gene expression data for Clubfoot, Congenital, with or Without Deficiency of Long Bones and/or Mirror-Image Polydactyly.

Pathways for genes affiliated with Clubfoot, Congenital, with or Without Deficiency of Long Bones...

About this section

GO Terms for genes affiliated with Clubfoot, Congenital, with or Without Deficiency of Long Bones...

About this section

Cellular components related to Clubfoot, Congenital, with or Without Deficiency of Long Bones and/or Mirror-Image Polydactyly according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1nucleolusGO:00057309.1ERGIC2, PITX1

Sources for Clubfoot, Congenital, with or Without Deficiency of Long Bones...

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet