MCID: CLB019
MIFTS: 28

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...

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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 51 69 12
Hereditary Clubfoot Due to Pitx1 Point Mutation 53
Hereditary Clubfoot Due to 5q31 Microdeletion 53
Familial Clubfoot Due to Pitx1 Point Mutation 53
Familial Clubfoot Due to 5q31 Microdeletion 53
 
Congestive Heart Failure 67
Talipes Equinovarus 69
Tev 69
Ccf 69

Characteristics:

HPO:

63
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:

OMIM51 119800
ICD10 via Orphanet30 Q66.8
MedGen36 C0009081
MeSH38 D003025

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

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UniProtKB/Swiss-Prot:69 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). The drugs perindopril arginine and atenolol have been mentioned in the context of this disorder. Affiliated tissues include bone and heart.

OMIM:51 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...

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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 25)
idRelated DiseaseScoreTop Affiliating Genes
1talipes equinovarus12.6
2clubfoot12.0
3tarp syndrome11.9
4popliteal pterygium syndrome 111.1
5vertical talus, congenital11.1
6acromelic frontonasal dysostosis11.1
7crane-heise syndrome11.0
8camptodactyly joint contractures and facial skeletal dysplasia11.0
9pitx1-related congenital clubfoot11.0
10myotonic dystrophy10.2
11myelomeningocele10.1
12ritscher-schinzel syndrome10.0
13hemangioma10.0
14scoliosis10.0
15idiopathic scoliosis10.0
16osteomyelitis10.0
17eunuchism10.0
18dystonia10.0
19compartment syndrome10.0
20neuropathy10.0
21metatarsus adductus10.0
22spasticity10.0
23astrocytoma9.8
24neuronitis9.8
25corpus callosum agenesis9.8

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...

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Symptoms by clinical synopsis from OMIM:

119800

Clinical features from OMIM:

119800

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

 63
id Description HPO Frequency HPO Source Accession
1 foot polydactyly63 rare (5%) HP:0001829
2 patellar hypoplasia63 rare (5%) HP:0003065
3 talipes equinovarus63 HP:0001762

UMLS symptoms related to Clubfoot, Congenital, with or Without Deficiency of Long Bones and/or Mirror-Image Polydactyly:


syncope

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

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Interventional clinical trials:

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

Inferred drug relations via UMLS67/NDF-RT45:

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

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

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

35
Bone, Heart

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

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

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

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

69
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)SNVPathogenicrs121909109GRCh37Chr 5, 134366980: 134366980

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

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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...

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

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

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet