MCID: FML194
MIFTS: 19

Familial Clubfoot with or Without Associated Lower Limb Anomalies

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

Aliases & Classifications for Familial Clubfoot with or Without Associated Lower Limb...

MalaCards integrated aliases for Familial Clubfoot with or Without Associated Lower Limb Anomalies:

Name: Familial Clubfoot with or Without Associated Lower Limb Anomalies 58

Characteristics:

Orphanet epidemiological data:

58
familial clubfoot with or without associated lower limb anomalies
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q66.8
Orphanet 58 ORPHA199315

Summaries for Familial Clubfoot with or Without Associated Lower Limb...

MalaCards based summary : Familial Clubfoot with or Without Associated Lower Limb Anomalies is related to joubert syndrome 3 and coach syndrome 1. An important gene associated with Familial Clubfoot with or Without Associated Lower Limb Anomalies is CC2D2A (Coiled-Coil And C2 Domain Containing 2A). Related phenotypes are cardiovascular system and embryo

Related Diseases for Familial Clubfoot with or Without Associated Lower Limb...

Diseases related to Familial Clubfoot with or Without Associated Lower Limb Anomalies via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 joubert syndrome 3 10.0 INPP5E CC2D2A
2 coach syndrome 1 10.0 INPP5E CC2D2A
3 polydactyly 9.9 PITX1 INPP5E CC2D2A
4 paine syndrome 9.8 TRPV4 COL5A1
5 polycystic kidney disease 9.6 TRPV4 INPP5E CC2D2A
6 odontochondrodysplasia 9.4 TRPV4 PLOD2 INPP5E COL5A1
7 scoliosis 9.2 TRPV4 RYR1 PLOD2 PITX1 COL5A1
8 clubfoot 7.9 TRPV4 RYR1 PLOD2 PITX1 KIAA1109 INPP5E
9 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 7.9 TRPV4 RYR1 PLOD2 PITX1 KIAA1109 INPP5E

Graphical network of the top 20 diseases related to Familial Clubfoot with or Without Associated Lower Limb Anomalies:



Diseases related to Familial Clubfoot with or Without Associated Lower Limb Anomalies

Symptoms & Phenotypes for Familial Clubfoot with or Without Associated Lower Limb...

MGI Mouse Phenotypes related to Familial Clubfoot with or Without Associated Lower Limb Anomalies:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.86 CC2D2A COL5A1 INPP5E KIAA1109 PITX1 PLOD2
2 embryo MP:0005380 9.63 CC2D2A COL5A1 INPP5E KIAA1109 PITX1 PLOD2
3 integument MP:0010771 9.56 CC2D2A COL5A1 INPP5E KIAA1109 PITX1 PLOD2
4 mortality/aging MP:0010768 9.23 CC2D2A COL5A1 DARS2 INPP5E KIAA1109 PITX1

Drugs & Therapeutics for Familial Clubfoot with or Without Associated Lower Limb...

Search Clinical Trials , NIH Clinical Center for Familial Clubfoot with or Without Associated Lower Limb Anomalies

Genetic Tests for Familial Clubfoot with or Without Associated Lower Limb...

Anatomical Context for Familial Clubfoot with or Without Associated Lower Limb...

Publications for Familial Clubfoot with or Without Associated Lower Limb...

Articles related to Familial Clubfoot with or Without Associated Lower Limb Anomalies:

# Title Authors PMID Year
1
Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly. 6
22258522 2012
2
Asymmetric lower-limb malformations in individuals with homeobox PITX1 gene mutation. 6
18950742 2008

Variations for Familial Clubfoot with or Without Associated Lower Limb...

ClinVar genetic disease variations for Familial Clubfoot with or Without Associated Lower Limb Anomalies:

6 (show all 23)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PITX1 NM_002653.5(PITX1):c.388G>A (p.Glu130Lys) SNV Pathogenic 7505 rs121909109 5:134366980-134366980 5:135031290-135031290
2 PITX1 NM_002653.5(PITX1):c.765_799del (p.Ala256fs) Deletion Pathogenic 37253 rs730882191 5:134364615-134364649 5:135028925-135028959
3 RYR1 NM_000540.2(RYR1):c.7268T>A (p.Met2423Lys) SNV Pathogenic 12989 rs118192174 19:38990601-38990601 19:38499961-38499961
4 CC2D2A NM_001080522.2(CC2D2A):c.1149+1G>A SNV Pathogenic 523401 rs1553827236 4:15518380-15518380 4:15516757-15516757
5 CC2D2A NM_001080522.2(CC2D2A):c.4179+1del Deletion Pathogenic 56312 rs386833760 4:15589552-15589552 4:15587929-15587929
6 DARS2 NM_018122.5(DARS2):c.492+2T>C SNV Pathogenic 1062 rs142433332 1:173800770-173800770 1:173831632-173831632
7 INPP5E NM_019892.6(INPP5E):c.1132C>T (p.Arg378Cys) SNV Pathogenic 400 rs121918130 9:139327634-139327634 9:136433182-136433182
8 TRPV4 NM_021625.4(TRPV4):c.947G>A (p.Arg316His) SNV Pathogenic 30473 rs387906905 12:110236624-110236624 12:109798819-109798819
9 DARS2 NM_018122.5(DARS2):c.228-21_228-20delinsC Indel Pathogenic 1057 rs1553201258 1:173797450-173797451 1:173828312-173828313
10 PLOD2 NM_182943.3(PLOD2):c.2038C>T (p.Arg680Ter) SNV Likely pathogenic 374012 rs780770356 3:145788912-145788912 3:146071125-146071125
11 KIAA1109 NM_015312.3(KIAA1109):c.1557T>A (p.Tyr519Ter) SNV Likely pathogenic 183349 rs730882245 4:123128323-123128323 4:122207168-122207168
12 PLOD2 NM_182943.3(PLOD2):c.1361G>T (p.Gly454Val) SNV Likely pathogenic 374011 rs778360818 3:145797042-145797042 3:146079255-146079255
13 COL5A1 NM_001278074.1(COL5A1):c.2903del (p.Pro968fs) Deletion Likely pathogenic 374067 rs1057518871 9:137690256-137690256 9:134798410-134798410
14 KIAA1109 NM_001384125.1(KIAA1109):c.3323+1G>A SNV Likely pathogenic 978640 4:123151367-123151367 4:122230212-122230212
15 KIAA1109 NM_001384125.1(KIAA1109):c.692del (p.Phe231fs) Deletion Likely pathogenic 978675 4:123109112-123109112 4:122187957-122187957
16 DUSP29 NM_012330.4(KAT6B):c.5213C>T (p.Thr1738Ile) SNV Likely pathogenic 523500 rs1554846212 10:76789795-76789795 10:75030037-75030037
17 UNC13C NM_001080534.3(UNC13C):c.283C>T (p.Arg95Ter) SNV Uncertain significance 982686 15:54305383-54305383 15:54013186-54013186
18 PKD1 NM_001009944.3(PKD1):c.12014A>G (p.Gln4005Arg) SNV Uncertain significance 523352 rs760873748 16:2140799-2140799 16:2090798-2090798
19 PKD1 NM_001009944.3(PKD1):c.7429C>T (p.Arg2477Cys) SNV Uncertain significance 257000 rs376283361 16:2156459-2156459 16:2106458-2106458
20 TNFRSF13B NM_012452.2(TNFRSF13B):c.310T>C (p.Cys104Arg) SNV Uncertain significance 5302 rs34557412 17:16852187-16852187 17:16948873-16948873
21 VANGL1 NM_138959.3(VANGL1):c.523C>T (p.Arg175Trp) SNV Uncertain significance 167818 rs142594314 1:116206600-116206600 1:115663979-115663979
22 PITX1 NM_002653.5(PITX1):c.683G>T (p.Ser228Ile) SNV Uncertain significance 930834 5:134364731-134364731 5:135029041-135029041
23 AARS1 NM_001605.2(AARS1):c.2054T>C (p.Val685Ala) SNV Uncertain significance 523443 rs1555539904 16:70292059-70292059 16:70258156-70258156

Expression for Familial Clubfoot with or Without Associated Lower Limb...

Search GEO for disease gene expression data for Familial Clubfoot with or Without Associated Lower Limb Anomalies.

Pathways for Familial Clubfoot with or Without Associated Lower Limb...

GO Terms for Familial Clubfoot with or Without Associated Lower Limb...

Cellular components related to Familial Clubfoot with or Without Associated Lower Limb Anomalies according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cilium GO:0005929 8.8 TRPV4 INPP5E CC2D2A

Biological processes related to Familial Clubfoot with or Without Associated Lower Limb Anomalies according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 skin development GO:0043588 8.62 RYR1 COL5A1

Sources for Familial Clubfoot with or Without Associated Lower Limb...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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