MCID: SPL039
MIFTS: 33

Split Foot

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Split Foot

MalaCards integrated aliases for Split Foot:

Name: Split Foot 56

Classifications:



External Ids:

Orphanet 56 ORPHA294994
UMLS via Orphanet 70 C0432028
ICD10 via Orphanet 34 Q72.7
ICD10 33 Q72.7

Summaries for Split Foot

MalaCards based summary : Split Foot is related to split-foot malformation with mesoaxial polydactyly and split-foot deformity with mandibulofacial dysostosis. An important gene associated with Split Foot is SEM1 (SEM1, 26S Proteasome Complex Subunit). The drugs Ethanol and Salicylic acid have been mentioned in the context of this disorder. Affiliated tissues include bone and heart, and related phenotypes are Decreased IL-8 secretion and embryo

Related Diseases for Split Foot

Diseases related to Split Foot via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 55)
id Related Disease Score Top Affiliating Genes
1 split-foot malformation with mesoaxial polydactyly 12.3
2 split-foot deformity with mandibulofacial dysostosis 12.2
3 split hand-split foot malformation 12.2
4 split hand split foot nystagmus 12.2
5 split foot, unilateral 12.1
6 split foot, bilateral 12.1
7 split hand split foot malformation autosomal recessive 11.9
8 acrorenal-mandibular syndrome 11.6
9 ulnar hypoplasia with lobster-claw deformity of feet 11.6
10 split-hand/foot malformation with long bone deficiency 1 11.5
11 ectrodactyly with tibial hemimelia 11.1
12 split-hand/foot malformation 1 with sensorineural hearing loss 10.9
13 split-hand with congenital nystagmus, fundal changes, and cataracts 10.9
14 split hand-foot malformation 10.9
15 split-hand/foot malformation 5 10.9
16 split-hand/foot malformation 4 10.9
17 split-hand/foot malformation 6 10.9
18 split-hand/foot malformation 3 10.9
19 split hand urinary anomalies spina bifida 10.9
20 split hand 10.5
21 myelodysplasia and leukemia syndrome with monosomy 7 10.4 DLX5 DLX6
22 intracranial aneurysm 10.3 DLX5 DYNC1I1 SEM1
23 tooth agenesis, selective, 8 10.3 DLX5 SEM1 TP63
24 hydrops fetalis, nonimmune, and/or atrial septal defect 10.2 DLX5 DLX6 SEM1
25 myoclonic dystonia 15 10.2 DLX5 MAP3K20 SEM1
26 congenital absence of both forearm and hand 10.2 DLX5 FBXW4 SEM1 TP63
27 split hand-foot malformation 2 10.1 DLX5 FBXW4 SEM1 TP63
28 hypotrichosis 7 10.1 DLX5 DLX6 SEM1 TP63
29 pelizaeus-merzbacher disease in female carriers 9.8 FGF8 SUFU
30 ectodermal dysplasia 9.8
31 microphthalmia 9.8
32 triphalangeal thumb 9.8
33 x-linked intellectual disability, porteous type 9.7 CKAP4 TP63
34 neural tube defects 9.6
35 limb-mammary syndrome 9.6
36 ladd syndrome 9.6
37 aniridia 9.6
38 focal dermal hypoplasia 9.6
39 amelogenesis imperfecta 9.6
40 eec syndrome 9.6
41 hypospadias 9.6
42 microcephaly 9.6
43 choroiditis 9.6
44 coloboma 9.6
45 cervicitis 9.6
46 urinary tract obstruction 9.6
47 cleft lip 9.6
48 congenital nystagmus 9.6
49 intellectual disability 9.6
50 cardiomyopathy, familial hypertrophic, 9 9.3 BTRC DLX5 FBXW4 SEM1 SUFU TP63

Graphical network of the top 20 diseases related to Split Foot:



Diseases related to Split Foot

Symptoms & Phenotypes for Split Foot

GenomeRNAi Phenotypes related to Split Foot according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased IL-8 secretion GR00386-A-2 9.23 BTRC DLX6 HMX2 LBX1 MAP3K20 RBP4

MGI Mouse Phenotypes related to Split Foot:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 10.02 LBX1 DLX5 SUFU TLX1 DLX6 TP63
2 growth/size/body region MP:0005378 9.97 CKAP4 LBX1 SUFU DLX5 TP63 DLX6
3 limbs/digits/tail MP:0005371 9.7 LBX1 DLX5 SUFU DLX6 TP63 FBXW4
4 hearing/vestibular/ear MP:0005377 9.65 CKAP4 DLX5 DLX6 FGF8 HMX2
5 mortality/aging MP:0010768 9.65 CKAP4 LBX1 SUFU DLX5 TP63 DLX6
6 skeleton MP:0005390 9.17 DLX5 SUFU DLX6 TP63 FBXW4 FGF8

Drugs & Therapeutics for Split Foot

Drugs for Split Foot (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 27)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ethanol Approved Phase 3 64-17-5 702
2
Salicylic acid Approved, Vet_approved Phase 3 69-72-7 338
3
Acetylcholine Approved Phase 3 51-84-3 187
4
Petrolatum Approved Phase 3 8009-03-8
5
acetic acid Approved, Nutraceutical Phase 3 64-19-7 176
6
Retinol acetate Phase 3 127-47-9 10245972
7 abobotulinumtoxinA Phase 3
8 Cholinergic Agents Phase 3
9 Neuromuscular Agents Phase 3
10 Neurotransmitter Agents Phase 3
11 onabotulinumtoxinA Phase 3
12 Peripheral Nervous System Agents Phase 3
13 Pharmaceutical Solutions Phase 3
14 Botulinum Toxins Phase 3
15 Botulinum Toxins, Type A Phase 3
16
Miconazole Approved, Investigational, Vet_approved Phase 1 22916-47-8 4189
17
Everolimus Approved Phase 1 159351-69-6 6442177
18
Sirolimus Approved, Investigational Phase 1 53123-88-9 5284616 6436030 46835353
19 Anti-Bacterial Agents Phase 1
20 Anti-Infective Agents Phase 1
21 Immunosuppressive Agents Phase 1
22 Antifungal Agents Phase 1
23 Antibiotics, Antitubercular Phase 1
24
Menthol Approved 2216-51-5 16666
25 Anesthetics
26 Anesthetics, Local
27 Hemostatics

Interventional clinical trials:

(show all 14)

id Name Status NCT ID Phase Drugs
1 Chronic Insertional Achilles Tendonitis Treated With or Without Flexor Hallucis Longus Tendon Transfer Completed NCT00950053 Phase 4
2 Lateral Canthal Rhytides With Medium Depth Chemical Peel With or Without Pretreatment With Botulinum Toxin A Completed NCT01586819 Phase 3 Botulinum Toxin
3 Topical Sirolimus for the Treatment of Pachyonychia Congenita (PC) Completed NCT02152007 Phase 1 1% sirolimus cream (TD201 1%)
4 Study of ReCell® Treating for Diabetic Foot Ulcers Unknown status NCT02070835
5 Onset Time of Nerve Block: A Comparison of Two Injection Locations in Patients Having Lower Leg/ Foot Surgery Unknown status NCT01542840
6 A Comparison of Two Injection Locations in Obese Patients Having Lower Leg/Foot Surgery Completed NCT01550094
7 Neurodevelopment Outcomes Following Severe Hand Foot and Mouth Disease in Vietnam Completed NCT02066714
8 Treatment of Painful Diabetic Neuropathy With Photon Stimulation Completed NCT00539175
9 Gait Enhancing Mobile Shoe for Stroke Rehabilitation Recruiting NCT02185404
10 Comparison of Human Allograft to Apligraf for Venous Leg Ulcers Recruiting NCT02047084
11 Direct Anterior Approach Versus Direct Lateral Approach in Total Hip Arthroplasty Recruiting NCT02719236
12 Survey Study and Records Review of Treatment Outcomes in Freeman-Sheldon Syndrome Recruiting NCT01144741
13 Non-Contrast Enhanced Peripheral Magnetic Resonance Angiography Enrolling by invitation NCT02823444
14 Use of Perforator Flaps for Leg and Foot Reconstruction Not yet recruiting NCT03269864

Search NIH Clinical Center for Split Foot

Genetic Tests for Split Foot

Anatomical Context for Split Foot

MalaCards organs/tissues related to Split Foot:

39
Bone, Heart

Publications for Split Foot

Articles related to Split Foot:

(show top 50) (show all 80)
id Title Authors Year
1
7q21.3 Deletion involving enhancer sequences within the gene DYNC1I1 presents with intellectual disability and split hand-split foot malformation with decreased penetrance. ( 26075025 )
2015
2
Next generation sequencing of chromosomal rearrangements in patients with split-hand/split-foot malformation provides evidence for DYNC1I1 exonic enhancers of DLX5/6 expression in humans. ( 24459211 )
2014
3
Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families. ( 25231166 )
2014
4
Absent expression of the osteoblast-specific maternally imprinted genes, DLX5 and DLX6, causes split hand/split foot malformation type I. ( 25332435 )
2014
5
Identification of the deleted in split hand/split foot 1 protein as a novel biomarker for human cervical cancer. ( 23024267 )
2013
6
A 0.7a88Mb de novo duplication at 7q21.3 including the genes DLX5 and DLX6 in a patient with split-hand/split-foot malformation. ( 23169702 )
2012
7
Split hand-split foot-ectodermal dysplasia and amelogenesis imperfecta with a TP63 mutation. ( 22065540 )
2012
8
A de novo 1.1Mb microdeletion of chromosome 19p13.11 provides indirect evidence for EPS15L1 to be a strong candidate for split hand split foot malformation. ( 21700002 )
2011
9
Historical note: an analysis of a 17th century illustration of a child with split hand/split foot malformation. ( 21455467 )
2010
10
Split hand/split foot deformity with focal dermal hypoplasia (Goltz syndrome). ( 21078256 )
2010
11
Characterization of the complex 7q21.3 rearrangement in a patient with bilateral split-foot malformation and hearing loss. ( 19449426 )
2009
12
First-trimester diagnosis of familial split-hand/split-foot malformation. ( 19778890 )
2009
13
Abnormal urethra formation in mouse models of split-hand/split-foot malformation type 1 and type 4. ( 17878916 )
2008
14
Split-hand/split-foot malformation 3 (SHFM3) at 10q24, development of rapid diagnostic methods and gene expression from the region. ( 16691619 )
2006
15
Prenatal diagnosis of a partial monosomy 7q11-->q31 in a fetus with split foot. ( 15692208 )
2005
16
Fine mapping of the X-linked split-hand/split-foot malformation (SHFM2) locus to a 5.1-Mb region on Xq26.3 and analysis of candidate genes. ( 15617554 )
2005
17
Split-hand/split-foot malformation associated with maternal valproate consumption. ( 16010085 )
2005
18
Genomic rearrangement at 10q24 in non-syndromic split-hand/split-foot malformation. ( 16235095 )
2005
19
The 10q24-linked split hand/split foot syndrome (SHFM3): narrowing of the critical region and confirmation of the clinical phenotype. ( 14699611 )
2004
20
[One family investigation and pathogeny research on ectrodactyly, absence of radius side part palm and split foot malformation]. ( 15476176 )
2004
21
Molecular genetic characterization of a Korean split hand/split foot malformation (SHFM). ( 15232212 )
2004
22
A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24. ( 12913067 )
2003
23
Deletion mapping of split hand/split foot malformation with hearing impairment: a case report. ( 14550969 )
2003
24
Pathogenesis of split-hand/split-foot malformation. ( 12668597 )
2003
25
Evidence for autosomal recessive inheritance of split hand/split foot malformation: a report of nine cases. ( 12072797 )
2002
26
Split hand/split foot, iris/choroid coloboma, hypospadias and subfertility: a new developmental malformation syndrome? ( 12401986 )
2002
27
Unilateral split foot, torticollis, congenital heart defect and hydrocephaly: a new syndrome? ( 12002147 )
2002
28
Split hand/split foot malformation with hearing loss: first report of families linked to the SHFM1 locus in 7q21. ( 11168022 )
2001
29
p63 gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype- phenotype correlation. ( 11462173 )
2001
30
Split-hand/split-foot malformation with paternal mutation in the p63 gene. ( 11787035 )
2001
31
Genomic organization and embryonic expression of Suppressor of Fused, a candidate gene for the split-hand/split-foot malformation type 3. ( 11557033 )
2001
32
Split hand/split foot malformation associated with sensorineural deafness, inner and middle ear malformation, hypodontia, congenital vertical talus, and deletion of eight microsatellite markers in 7q21.1-q21.3. ( 11424924 )
2001
33
Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27. ( 10839977 )
2000
34
Delineation of a complex karyotypic rearrangement by microdissection and CGH in a family affected with split foot. ( 10851255 )
2000
35
SEM1, a homologue of the split hand/split foot malformation candidate gene Dss1, regulates exocytosis and pseudohyphal differentiation in yeast. ( 9927667 )
1999
36
Fine mapping of the split-hand/split-foot locus (SHFM3) at 10q24: evidence for anticipation and segregation distortion. ( 10330351 )
1999
37
Fluorescent in situ mapping of the murine deleted in split hand/split foot 1 (dss1) gene to chromosome 6. ( 9271682 )
1997
38
Split hand/split foot malformation, deafness, and mental retardation with a complex cytogenetic rearrangement involving 7q21.3. ( 8782053 )
1996
39
A split hand-split foot (SHFM3) gene is located at 10q24-->25. ( 8723077 )
1996
40
A second case of microcephaly, microphthalmia, ectrodactyly (split-foot) and prognathism (MMEP). ( 8867664 )
1996
41
Refined mapping of a gene for split hand-split foot malformation (SHFM3) on chromosome 10q25. ( 9004130 )
1996
42
Characterization of the split hand/split foot malformation locus SHFM1 at 7q21.3-q22.1 and analysis of a candidate gene for its expression during limb development. ( 8733122 )
1996
43
Genetics of split hand and split foot. A case study. ( 8699344 )
1996
44
Heterogeneity of the autosomal dominant split hand/split foot malformation. ( 7825599 )
1995
45
Split foot and developmental retardation associated with a deletion of three microsatellite markers in 7q21.2-q22.1. ( 7606850 )
1995
46
A second autosomal split hand/split foot locus maps to chromosome 10q24-q25. ( 8589697 )
1995
47
On the inheritance of the split hand/split foot malformation. ( 7802032 )
1994
48
Physical mapping of the split hand/split foot locus on chromosome 7 and implication in syndromic ectrodactyly. ( 7987313 )
1994
49
Split hand/split foot, syndactyly, urinary tract obstruction, radial, diaphragmatic, and neural tube defects: Czeizel-Losonci syndrome? ( 8074153 )
1994
50
Non-Mendelian transmission in a human developmental disorder: split hand/split foot. ( 7942849 )
1994

Variations for Split Foot

Expression for Split Foot

Search GEO for disease gene expression data for Split Foot.

Pathways for Split Foot

GO Terms for Split Foot

Biological processes related to Split Foot according to GeneCards Suite gene sharing:

(show all 14)
id Name GO ID Score Top Affiliating Genes
1 post-translational protein modification GO:0043687 9.83 BTRC CKAP4 FBXW4 SEM1
2 skeletal system development GO:0001501 9.67 DLX5 DLX6 SUFU TP63
3 epithelial cell differentiation GO:0030855 9.65 DLX5 DLX6 TP63
4 SCF-dependent proteasomal ubiquitin-dependent protein catabolic process GO:0031146 9.63 BTRC FBXW4 SEM1
5 heart looping GO:0001947 9.61 FGF8 LBX1 SUFU
6 positive regulation of mesenchymal cell proliferation GO:0002053 9.54 FBXW4 TP63
7 negative regulation of smoothened signaling pathway GO:0045879 9.51 BTRC SUFU
8 head development GO:0060322 9.49 DLX5 DLX6
9 inner ear morphogenesis GO:0042472 9.46 DLX5 DLX6 FGF8 HMX2
10 anatomical structure formation involved in morphogenesis GO:0048646 9.43 DLX5 DLX6 TP63
11 urinary bladder development GO:0060157 9.4 RBP4 TP63
12 female genitalia morphogenesis GO:0048807 9.32 RBP4 TP63
13 multicellular organism development GO:0007275 9.28 DLX5 DLX6 FBXW4 FGF8 HMX2 LBX1
14 embryonic limb morphogenesis GO:0030326 9.26 DLX5 DLX6 FBXW4 TP63

Molecular functions related to Split Foot according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 9.1 DLX5 DLX6 HMX2 LBX1 TLX1 TP63

Sources for Split Foot

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
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