MCID: CLB019
MIFTS: 26

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

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

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

MalaCards integrated aliases 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 71 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 71
Tev 71
Ccf 71

Characteristics:

OMIM:

54
Miscellaneous:
incomplete penetrance
clubfoot is bilateral in most patients

Inheritance:
autosomal dominant


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 : 71 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, patellar hypoplasia and foot polydactyly. 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), and among its related pathways/superpathways is DAG and IP3 signaling. Affiliated tissues include bone, and related phenotypes are adipose tissue and craniofacial

OMIM : 54
Clubfoot is 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 (Cardy et al., 2007). Clubfoot may occur in isolation or as part of a syndrome (e.g., diastrophic dysplasia, 222600). Clubfoot has been reported with deficiency of long bones and mirror-image polydactyly (Gurnett et al., 2008; Klopocki et al., 2012). (119800)

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 28)
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 11.1
5 pitx1-related congenital clubfoot 11.1
6 popliteal pterygium syndrome 1 11.0
7 vertical talus, congenital 11.0
8 acromelic frontonasal dysostosis 11.0
9 cyprus facial neuromusculoskeletal syndrome 11.0
10 pseudodiastrophic dysplasia 11.0
11 myotonic dystrophy 10.2
12 myelomeningocele 10.1
13 ritscher-schinzel syndrome 10.0
14 osteomyelitis 10.0
15 eunuchism 10.0
16 dystonia 10.0
17 compartment syndrome 10.0
18 neuropathy 10.0
19 metatarsus adductus 10.0
20 hemangioma 10.0
21 scoliosis 10.0
22 idiopathic scoliosis 10.0
23 spasticity 10.0
24 astrocytoma 9.8
25 neuronitis 9.8
26 corpus callosum agenesis 9.8
27 tarlov cysts 9.5 PITX1 RYR1
28 liebenberg syndrome 9.2 PITX1 RYR1

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 via clinical synopsis from OMIM:

54

Skeletal- Feet:
preaxial mirror-image polydactyly (in some patients)
oblique talus (in some patients)
talipes equinovarus (clubfoot)

Skeletal- Limbs:
no anomalies of upper limbs
patellar hypoplasia, bilateral (in some patients)
tibial hemimelia (in some patients)


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 patellar hypoplasia 32 occasional (7.5%) HP:0003065
3 foot polydactyly 32 occasional (7.5%) HP:0001829

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 adipose tissue MP:0005375 9.16 PITX1 RYR1
2 craniofacial MP:0005382 8.96 PITX1 RYR1
3 limbs/digits/tail MP:0005371 8.62 PITX1 RYR1

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:

71
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/Likely 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...

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

id Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 8.62 PITX1 RYR1

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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....