CCF
MCID: CLB019
MIFTS: 24

Clubfoot, Congenital, with or Without Deficiency of Long Bones and/or Mirror-Image Polydactyly (CCF) 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 52 70 12
Hereditary Clubfoot Due to Pitx1 Point Mutation 54
Familial Clubfoot Due to Pitx1 Point Mutation 54
Hereditary Clubfoot Due to 5q31 Microdeletion 54
 
Familial Clubfoot Due to 5q31 Microdeletion 54
Talipes Equinovarus 70
Tev 70
Ccf 70

Characteristics:

HPO:

64
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:

OMIM52 119800
ICD10 via Orphanet31 Q66.8
MedGen37 C0009081
MeSH39 D003025

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

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UniProtKB/Swiss-Prot:70 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 talipes equinovarus, foot polydactyly and patellar hypoplasia. 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, and related mouse phenotypes are Decreased ionizing radiation sensitivity and hearing/vestibular/ear.

OMIM:52 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 26)
idRelated DiseaseScoreTop Affiliating Genes
1talipes equinovarus12.7
2clubfoot12.0
3tarp syndrome11.9
4crane-heise syndrome11.0
5camptodactyly joint contractures and facial skeletal dysplasia11.0
6pitx1-related congenital clubfoot11.0
7popliteal pterygium syndrome 111.0
8vertical talus, congenital11.0
9acromelic frontonasal dysostosis11.0
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
23deafness, autosomal dominant 159.8PITX1, TRPV4
24astrocytoma9.8
25neuronitis9.8
26corpus 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 & Phenotypes 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:

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id Description HPO Frequency HPO Source Accession
1 talipes equinovarus64 HP:0001762
2 foot polydactyly64 HP:0001829
3 patellar hypoplasia64 HP:0003065

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00232-A-19.9PITX1, TRPV4

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

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.9PITX1, TRPV4
2MP:00053699.1PITX1, TRPV4

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

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:

36
Bone

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:

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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
1TRPV4NM_ 021625.4(TRPV4): c.947G> A (p.Arg316His)SNVPathogenicrs387906905GRCh37Chr 12, 110236624: 110236624
2PITX1NM_ 002653.4(PITX1): c.765_ 799del35 (p.Ala256Argfs)deletionPathogenicrs730882191GRCh38Chr 5, 135028925: 135028959
3PITX1NM_ 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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet