MCID: SPL039
MIFTS: 34

Split Foot malady

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Split Foot

Aliases & Descriptions 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 deformity with mandibulofacial dysostosis and split-foot malformation with mesoaxial polydactyly. An important gene associated with Split Foot is SEM1 (SEM1, 26S Proteasome Complex Subunit). The drugs Ethanol and Zinc have been mentioned in the context of this disorder. Affiliated tissues include bone and heart, and related phenotypes are embryo and limbs/digits/tail

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 51)
id Related Disease Score Top Affiliating Genes
1 split-foot deformity with mandibulofacial dysostosis 12.2
2 split-foot malformation with mesoaxial polydactyly 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 11.1
9 ectrodactyly with tibial hemimelia 11.1
10 split-hand/foot malformation with long bone deficiency 1 10.9
11 split-hand/foot malformation 1 with sensorineural hearing loss 10.9
12 ulnar hypoplasia with lobster-claw deformity of feet 10.9
13 split hand foot malformation 10.9
14 split-hand with congenital nystagmus, fundal changes, and cataracts 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 10.5
20 spondylocostal dysostosis 4 10.2 DLX5 MAP3K20
21 tongue disease 10.1 DLX5 DYNC1I1 SEM1
22 3mc syndrome 1 10.1 DLX5 DLX6 SEM1 TP63
23 hypomyelinating leukodystrophy 13 10.0 TP63 WNT10B
24 congenital absence of both lower leg and foot 9.9 DLX5 FBXW4 SEM1 TP63 WNT10B
25 aica-ribosiduria due to atic deficiency 9.9 FBXW4 LMBR1 TP63
26 hypoparathyroidism 9.8 FBXW4 LMBR1 TP63
27 fibrous dysplasia 9.8 FGF8 LMBR1 TP63
28 triphalangeal thumb 9.8
29 microphthalmia 9.8
30 ectodermal dysplasia 9.8
31 spondylocostal dysostosis 3 9.6 DLX5 FBXW4 MAP3K20 SEM1 SEM1P1 SHFM2
32 eec syndrome 9.6
33 hypospadias 9.6
34 limb-mammary syndrome 9.6
35 microcephaly 9.6
36 ladd syndrome 9.6
37 syndactyly 9.6
38 buphthalmos 9.6
39 aniridia 9.6
40 choroiditis 9.6
41 cervicitis 9.6
42 focal dermal hypoplasia 9.6
43 urinary tract obstruction 9.6
44 cleft lip 9.6
45 congenital nystagmus 9.6
46 amelogenesis imperfecta 9.6
47 neural tube defects 9.6
48 intellectual disability 9.6
49 alpha thalassemia-x-linked intellectual disability syndrome 8.9 BTRC DLX5 DLX6 DYNC1I1 FBXW4 FGF8
50 angiocentric glioma 8.5 BTRC DLX5 DLX6 DYNC1I1 EPS15L1 FBXW4

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



Diseases related to Split Foot

Symptoms & Phenotypes for Split Foot

MGI Mouse Phenotypes related to Split Foot:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.91 DLX6 FBXW4 FGF8 LBX1 SUFU TLX1
2 limbs/digits/tail MP:0005371 9.76 DLX6 FBXW4 FGF8 LBX1 LMBR1 SUFU
3 muscle MP:0005369 9.5 DLX5 FGF8 HMX2 LBX1 RBP4 TP63
4 skeleton MP:0005390 9.23 DLX5 DLX6 FBXW4 FGF8 LMBR1 SUFU

Drugs & Therapeutics for Split Foot

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

(show all 33)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ethanol Approved Phase 3 64-17-5 702
2
Zinc Approved Phase 3 7440-66-6 32051 23994
3
Salicylic acid Approved, Vet_approved Phase 3 69-72-7 338
4
Acetylcholine Approved Phase 3 51-84-3 187
5
Petrolatum Approved Phase 3 8009-03-8
6
acetic acid Approved, Nutraceutical Phase 3 64-19-7 176
7 insulin Phase 3
8
Retinol acetate Phase 3 127-47-9 10245972
9 Cholinergic Agents Phase 3
10 Neuromuscular Agents Phase 3
11 Neurotransmitter Agents Phase 3
12 Peripheral Nervous System Agents Phase 3
13 Pharmaceutical Solutions Phase 3
14 Hypoglycemic Agents Phase 3
15 abobotulinumtoxinA Phase 3
16 incobotulinumtoxinA Phase 3
17 onabotulinumtoxinA Phase 3
18 Insulin, Globin Zinc Phase 3
19 Insulin, Isophane Phase 3
20 Isophane Insulin, Human Phase 3
21 Isophane insulin, beef Phase 3
22 Botulinum Toxins Phase 3
23 Botulinum Toxins, Type A Phase 3
24
Miconazole Approved, Investigational, Vet_approved Phase 1 22916-47-8 4189
25
Everolimus Approved Phase 1 159351-69-6 6442177
26
Sirolimus Approved, Investigational Phase 1 53123-88-9 5284616 6436030 46835353
27 Anti-Bacterial Agents Phase 1
28 Anti-Infective Agents Phase 1
29 Immunosuppressive Agents Phase 1
30 Antifungal Agents Phase 1
31 Antibiotics, Antitubercular Phase 1
32 Anesthetics
33 Anesthetics, Local

Interventional clinical trials:

(show all 15)
id Name Status NCT ID Phase
1 Chronic Insertional Achilles Tendonitis Treated With or Without Flexor Hallucis Longus Tendon Transfer Completed NCT00950053 Phase 4
2 Direct Anterior Approach Versus Direct Lateral Approach in Total Hip Arthroplasty Recruiting NCT02719236 Phase 4
3 Lateral Canthal Rhytides With Medium Depth Chemical Peel With or Without Pretreatment With Botulinum Toxin A Unknown status NCT01586819 Phase 3
4 Active Comparator Study of Generex Oral-lyn™ Spray and Injected Human Insulin Unknown status NCT00668850 Phase 3
5 Pilot Study on the Impact of Economic Incentives to Improve the Management of Type 2 Diabetes Mellitus Active, not recruiting NCT02891382 Phase 3
6 Topical Sirolimus for the Treatment of Pachyonychia Congenita (PC) Completed NCT02152007 Phase 1
7 Onset Time of Nerve Block: A Comparison of Two Injection Locations in Patients Having Lower Leg/ Foot Surgery Unknown status NCT01542840
8 A Comparison of Two Injection Locations in Obese Patients Having Lower Leg/Foot Surgery Completed NCT01550094
9 Neurodevelopment Outcomes Following Severe Hand Foot and Mouth Disease in Vietnam Completed NCT02066714
10 Treatment of Painful Diabetic Neuropathy With Photon Stimulation Completed NCT00539175
11 Study of ReCell® Treating for Diabetic Foot Ulcers Recruiting NCT02070835
12 Gait Enhancing Mobile Shoe for Stroke Rehabilitation Recruiting NCT02185404
13 Comparison of Human Allograft to Apligraf for Venous Leg Ulcers Recruiting NCT02047084
14 The MILESTONE Study: Improving Transition From Child to Adult Mental Health Care Recruiting NCT03013595
15 Non-Contrast Enhanced Peripheral Magnetic Resonance Angiography Enrolling by invitation NCT02823444

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
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
3
Absent expression of the osteoblast-specific maternally imprinted genes, DLX5 and DLX6, causes split hand/split foot malformation type I. ( 25332435 )
2014
4
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
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
Split hand/split foot deformity with focal dermal hypoplasia (Goltz syndrome). ( 21078256 )
2010
10
Historical note: an analysis of a 17th century illustration of a child with split hand/split foot malformation. ( 21455467 )
2010
11
First-trimester diagnosis of familial split-hand/split-foot malformation. ( 19778890 )
2009
12
Characterization of the complex 7q21.3 rearrangement in a patient with bilateral split-foot malformation and hearing loss. ( 19449426 )
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
Genomic rearrangement at 10q24 in non-syndromic split-hand/split-foot malformation. ( 16235095 )
2005
16
Prenatal diagnosis of a partial monosomy 7q11-->q31 in a fetus with split foot. ( 15692208 )
2005
17
Split-hand/split-foot malformation associated with maternal valproate consumption. ( 16010085 )
2005
18
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
19
Molecular genetic characterization of a Korean split hand/split foot malformation (SHFM). ( 15232212 )
2004
20
The 10q24-linked split hand/split foot syndrome (SHFM3): narrowing of the critical region and confirmation of the clinical phenotype. ( 14699611 )
2004
21
[One family investigation and pathogeny research on ectrodactyly, absence of radius side part palm and split foot malformation]. ( 15476176 )
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
Pathogenesis of split-hand/split-foot malformation. ( 12668597 )
2003
24
Deletion mapping of split hand/split foot malformation with hearing impairment: a case report. ( 14550969 )
2003
25
Unilateral split foot, torticollis, congenital heart defect and hydrocephaly: a new syndrome? ( 12002147 )
2002
26
Evidence for autosomal recessive inheritance of split hand/split foot malformation: a report of nine cases. ( 12072797 )
2002
27
Split hand/split foot, iris/choroid coloboma, hypospadias and subfertility: a new developmental malformation syndrome? ( 12401986 )
2002
28
p63 gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype- phenotype correlation. ( 11462173 )
2001
29
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
30
Genomic organization and embryonic expression of Suppressor of Fused, a candidate gene for the split-hand/split-foot malformation type 3. ( 11557033 )
2001
31
Split hand/split foot malformation with hearing loss: first report of families linked to the SHFM1 locus in 7q21. ( 11168022 )
2001
32
Split-hand/split-foot malformation with paternal mutation in the p63 gene. ( 11787035 )
2001
33
Delineation of a complex karyotypic rearrangement by microdissection and CGH in a family affected with split foot. ( 10851255 )
2000
34
Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27. ( 10839977 )
2000
35
Fine mapping of the split-hand/split-foot locus (SHFM3) at 10q24: evidence for anticipation and segregation distortion. ( 10330351 )
1999
36
SEM1, a homologue of the split hand/split foot malformation candidate gene Dss1, regulates exocytosis and pseudohyphal differentiation in yeast. ( 9927667 )
1999
37
Fluorescent in situ mapping of the murine deleted in split hand/split foot 1 (dss1) gene to chromosome 6. ( 9271682 )
1997
38
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
39
Genetics of split hand and split foot. A case study. ( 8699344 )
1996
40
A second case of microcephaly, microphthalmia, ectrodactyly (split-foot) and prognathism (MMEP). ( 8867664 )
1996
41
A split hand-split foot (SHFM3) gene is located at 10q24-->25. ( 8723077 )
1996
42
Refined mapping of a gene for split hand-split foot malformation (SHFM3) on chromosome 10q25. ( 9004130 )
1996
43
Split hand/split foot malformation, deafness, and mental retardation with a complex cytogenetic rearrangement involving 7q21.3. ( 8782053 )
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
Exclusion of linkage between autosomal dominant split hand/split foot and markers from chromosome 7q: further evidence for genetic heterogeneity. ( 7942863 )
1994
48
On the inheritance of the split hand/split foot malformation. ( 7802032 )
1994
49
Split hand/split foot, syndactyly, urinary tract obstruction, radial, diaphragmatic, and neural tube defects: Czeizel-Losonci syndrome? ( 8074153 )
1994
50
Fine mapping of the autosomal dominant split hand/split foot locus on chromosome 7, band q21.3-q22.1. ( 8023840 )
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 15)
id Name GO ID Score Top Affiliating Genes
1 post-translational protein modification GO:0043687 9.85 BTRC CKAP4 FBXW4 SEM1
2 positive regulation of canonical Wnt signaling pathway GO:0090263 9.71 DLX5 SEM1 WNT10B
3 epithelial cell differentiation GO:0030855 9.67 DLX5 DLX6 TP63
4 skeletal system development GO:0001501 9.67 DLX5 DLX6 SUFU TP63
5 SCF-dependent proteasomal ubiquitin-dependent protein catabolic process GO:0031146 9.65 BTRC FBXW4 SEM1
6 embryonic digit morphogenesis GO:0042733 9.63 FBXW4 LMBR1 MAP3K20
7 heart looping GO:0001947 9.61 FGF8 LBX1 SUFU
8 negative regulation of smoothened signaling pathway GO:0045879 9.52 BTRC SUFU
9 head development GO:0060322 9.51 DLX5 DLX6
10 inner ear morphogenesis GO:0042472 9.46 DLX5 DLX6 FGF8 HMX2
11 anatomical structure formation involved in morphogenesis GO:0048646 9.43 DLX5 DLX6 TP63
12 urinary bladder development GO:0060157 9.4 RBP4 TP63
13 female genitalia morphogenesis GO:0048807 9.32 RBP4 TP63
14 multicellular organism development GO:0007275 9.32 DLX5 DLX6 FBXW4 FGF8 HMX2 LBX1
15 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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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