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...

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 54 66 13
Hereditary Clubfoot Due to Pitx1 Point Mutation 56
Familial Clubfoot Due to Pitx1 Point Mutation 56
Hereditary Clubfoot Due to 5q31 Microdeletion 56
Familial Clubfoot Due to 5q31 Microdeletion 56
Talipes Equinovarus 66
Tev 66
Ccf 66

Characteristics:

HPO:

32
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:

OMIM 54 119800
ICD10 via Orphanet 34 Q66.8
MedGen 40 C0009081
MeSH 42 D003025

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

UniProtKB/Swiss-Prot : 66 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 phenotypes are Decreased ionizing radiation sensitivity and hearing/vestibular/ear

OMIM : 54 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...

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)
id Related Disease Score Top Affiliating Genes
1 talipes equinovarus 12.7
2 clubfoot 12.0
3 tarp syndrome 11.9
4 crane-heise syndrome 11.0
5 pitx1-related congenital clubfoot 11.0
6 camptodactyly joint contractures and facial skeletal dysplasia 11.0
7 popliteal pterygium syndrome 1 11.0
8 vertical talus, congenital 11.0
9 acromelic frontonasal dysostosis 11.0
10 myotonic dystrophy 10.2
11 myelomeningocele 10.1
12 metatarsus adductus 10.0
13 hemangioma 10.0
14 scoliosis 10.0
15 idiopathic scoliosis 10.0
16 spasticity 10.0
17 osteomyelitis 10.0
18 eunuchism 10.0
19 dystonia 10.0
20 compartment syndrome 10.0
21 neuropathy 10.0
22 ritscher-schinzel syndrome 10.0
23 deafness, autosomal dominant 15 9.8 PITX1 TRPV4
24 corpus callosum agenesis 9.8
25 astrocytoma 9.8
26 neuronitis 9.8

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...

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:

32
id Description HPO Frequency HPO Source Accession
1 talipes equinovarus 32 HP:0001762
2 foot polydactyly 32 HP:0001829
3 patellar hypoplasia 32 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
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased ionizing radiation sensitivity GR00232-A-1 8.62 PITX1 TRPV4

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

44
id Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 8.96 PITX1 TRPV4
2 muscle MP:0005369 8.62 PITX1 TRPV4

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

Search Clinical Trials , 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...

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

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

39
Bone

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

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

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

66
id Symbol AA change Variation ID SNP ID
1 PITX1 p.Glu130Lys VAR_058113 rs121909109

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 PITX1 NM_002653.4(PITX1): c.388G> A (p.Glu130Lys) single nucleotide variant Pathogenic rs121909109 GRCh37 Chromosome 5, 134366980: 134366980
2 RYR1 NM_000540.2(RYR1): c.7268T> A (p.Met2423Lys) single nucleotide variant Pathogenic rs118192174 GRCh37 Chromosome 19, 38990601: 38990601
3 TRPV4 NM_021625.4(TRPV4): c.947G> A (p.Arg316His) single nucleotide variant Pathogenic rs387906905 GRCh37 Chromosome 12, 110236624: 110236624
4 PITX1 NM_002653.4(PITX1): c.765_799del35 (p.Ala256Argfs) deletion Pathogenic rs730882191 GRCh38 Chromosome 5, 135028925: 135028959

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

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

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

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

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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