Aliases & Classifications for Split Foot

MalaCards integrated aliases for Split Foot:

Name: Split Foot 55

Classifications:



External Ids:

Orphanet 55 ORPHA294994
UMLS via Orphanet 70 C0432028
ICD10 via Orphanet 33 Q72.7
ICD10 32 Q72.7

Summaries for Split Foot

MalaCards based summary : Split Foot is related to split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive and split-hand/foot malformation 1. An important gene associated with Split Foot is SEM1 (SEM1, 26S Proteasome Complex Subunit). Affiliated tissues include heart and bone, 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 62)
# Related Disease Score Top Affiliating Genes
1 split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive 31.7 DLX5 DLX6 SEM1
2 split-hand/foot malformation 1 31.5 DLX5 MAP3K20 SEM1 TP63
3 split hand 31.0 DLX5 FBXW4 SEM1 TP63
4 split-hand/foot malformation 5 30.6 BTRC DLX5 FBXW4 SEM1 SUFU TP63
5 split-hand/foot malformation 6 30.6 BTRC DLX5 FBXW4 LBX1 SEM1 TP63
6 split-hand/foot malformation 4 30.4 BTRC DLX5 DLX6 FBXW4 SEM1 SUFU
7 split-hand/foot malformation 2 29.9 BTRC DLX5 DLX6 DYNC1I1 FBXW4 FGF8
8 split-hand/foot malformation 3 29.6 BTRC DLX5 FBXW4 FGF8 LBX1 SEM1
9 split hand-split foot malformation 28.7 BTRC DLX5 DLX6 DYNC1I1 EPS15L1 FBXW4
10 split hand split foot nystagmus 12.4
11 split-foot malformation with mesoaxial polydactyly 12.4
12 split-foot deformity with mandibulofacial dysostosis 12.3
13 split foot, unilateral 12.2
14 split foot, bilateral 12.2
15 split-hand and split-foot with hypodontia 12.0
16 split hand split foot malformation autosomal recessive 12.0
17 acrorenal-mandibular syndrome 11.7
18 split-hand/foot malformation with long bone deficiency 1 11.7
19 ulnar hypoplasia with lobster-claw deformity of feet 11.7
20 split-hand with congenital nystagmus, fundal changes, and cataracts 11.3
21 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 11.3
22 split hand urinary anomalies spina bifida 11.3
23 tibial aplasia-ectrodactyly syndrome 11.0
24 ectrodactyly and ectodermal dysplasia without cleft lip/palate 11.0
25 paranoid personality disorder 10.1 DLX5 DYNC1I1 SEM1
26 rapp-hodgkin syndrome 10.0 DLX5 DLX6 SEM1 TP63
27 microform holoprosencephaly 9.9 FGF8 SUFU
28 split hand-foot malformation 9.9 DLX5 FBXW4 SEM1 SHFM2 TP63
29 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.8
30 ectodermal dysplasia 9.8
31 microphthalmia 9.8
32 branchiootic syndrome 1 9.8
33 cleft palate, isolated 9.7
34 split hand/foot malformation x-linked 9.7
35 coloboma of macula 9.7
36 ear malformation 9.7
37 amelogenesis imperfecta 9.7
38 glaucoma 3, primary congenital, a 9.7
39 lacrimoauriculodentodigital syndrome 9.7
40 focal dermal hypoplasia 9.7
41 hypospadias 9.7
42 polykaryocytosis inducer 9.7
43 microcephaly 9.7
44 neural tube defects 9.7
45 heart disease 9.7
46 microphthalmia, syndromic 8 9.7
47 choroiditis 9.7
48 neural tube defects, folate-sensitive 9.7
49 cervicitis 9.7
50 urinary tract obstruction 9.7

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:

25
# 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:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 10.07 SUFU TLX1 TP63 CKAP4 DLX5 DLX6
2 growth/size/body region MP:0005378 10.02 BTRC CKAP4 DLX5 DLX6 FGF8 HMX2
3 limbs/digits/tail MP:0005371 9.81 DLX5 DLX6 FBXW4 FGF8 LBX1 MAP3K20
4 hearing/vestibular/ear MP:0005377 9.73 CKAP4 DLX5 DLX6 FGF8 HMX2 MAP3K20
5 mortality/aging MP:0010768 9.7 TP63 BTRC CKAP4 DLX5 DLX6 FBXW4
6 skeleton MP:0005390 9.28 BTRC DLX5 DLX6 FBXW4 FGF8 MAP3K20

Drugs & Therapeutics for Split Foot

Search Clinical Trials , NIH Clinical Center for Split Foot

Genetic Tests for Split Foot

Anatomical Context for Split Foot

MalaCards organs/tissues related to Split Foot:

38
Heart, Bone

Publications for Split Foot

Articles related to Split Foot:

(show top 50) (show all 82)
# Title Authors Year
1
First direct evidence of involvement of a homozygous loss-of-function variant in the EPS15L1 gene underlying split-hand/split-foot malformation. ( 29023680 )
2017
2
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
3
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
4
Absent expression of the osteoblast-specific maternally imprinted genes, DLX5 and DLX6, causes split hand/split foot malformation type I. ( 25332435 )
2014
5
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
6
Identification of the deleted in split hand/split foot 1 protein as a novel biomarker for human cervical cancer. ( 23024267 )
2013
7
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
8
Biplanar Osteotomy for the Correction of Symptomatic Foot Ectrodactyly (Split-Foot Deformity): A Report of Two Cases. ( 29252533 )
2012
9
Split hand-split foot-ectodermal dysplasia and amelogenesis imperfecta with a TP63 mutation. ( 22065540 )
2012
10
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
11
Split hand/split foot deformity with focal dermal hypoplasia (Goltz syndrome). ( 21078256 )
2010
12
Historical note: an analysis of a 17th century illustration of a child with split hand/split foot malformation. ( 21455467 )
2010
13
Characterization of the complex 7q21.3 rearrangement in a patient with bilateral split-foot malformation and hearing loss. ( 19449426 )
2009
14
First-trimester diagnosis of familial split-hand/split-foot malformation. ( 19778890 )
2009
15
Abnormal urethra formation in mouse models of split-hand/split-foot malformation type 1 and type 4. ( 17878916 )
2008
16
Split-hand/split-foot malformation 3 (SHFM3) at 10q24, development of rapid diagnostic methods and gene expression from the region. ( 16691619 )
2006
17
Split-hand/split-foot malformation associated with maternal valproate consumption. ( 16010085 )
2005
18
Prenatal diagnosis of a partial monosomy 7q11-->q31 in a fetus with split foot. ( 15692208 )
2005
19
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
20
Genomic rearrangement at 10q24 in non-syndromic split-hand/split-foot malformation. ( 16235095 )
2005
21
Molecular genetic characterization of a Korean split hand/split foot malformation (SHFM). ( 15232212 )
2004
22
[One family investigation and pathogeny research on ectrodactyly, absence of radius side part palm and split foot malformation]. ( 15476176 )
2004
23
The 10q24-linked split hand/split foot syndrome (SHFM3): narrowing of the critical region and confirmation of the clinical phenotype. ( 14699611 )
2004
24
Pathogenesis of split-hand/split-foot malformation. ( 12668597 )
2003
25
A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24. ( 12913067 )
2003
26
Deletion mapping of split hand/split foot malformation with hearing impairment: a case report. ( 14550969 )
2003
27
Split hand/split foot, iris/choroid coloboma, hypospadias and subfertility: a new developmental malformation syndrome? ( 12401986 )
2002
28
Unilateral split foot, torticollis, congenital heart defect and hydrocephaly: a new syndrome? ( 12002147 )
2002
29
Evidence for autosomal recessive inheritance of split hand/split foot malformation: a report of nine cases. ( 12072797 )
2002
30
p63 gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype- phenotype correlation. ( 11462173 )
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 with paternal mutation in the p63 gene. ( 11787035 )
2001
33
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
34
Split hand/split foot malformation with hearing loss: first report of families linked to the SHFM1 locus in 7q21. ( 11168022 )
2001
35
Delineation of a complex karyotypic rearrangement by microdissection and CGH in a family affected with split foot. ( 10851255 )
2000
36
Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27. ( 10839977 )
2000
37
SEM1, a homologue of the split hand/split foot malformation candidate gene Dss1, regulates exocytosis and pseudohyphal differentiation in yeast. ( 9927667 )
1999
38
Fine mapping of the split-hand/split-foot locus (SHFM3) at 10q24: evidence for anticipation and segregation distortion. ( 10330351 )
1999
39
Fluorescent in situ mapping of the murine deleted in split hand/split foot 1 (dss1) gene to chromosome 6. ( 9271682 )
1997
40
Genetics of split hand and split foot. A case study. ( 8699344 )
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
A second case of microcephaly, microphthalmia, ectrodactyly (split-foot) and prognathism (MMEP). ( 8867664 )
1996
45
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
46
Split foot and developmental retardation associated with a deletion of three microsatellite markers in 7q21.2-q22.1. ( 7606850 )
1995
47
A second autosomal split hand/split foot locus maps to chromosome 10q24-q25. ( 8589697 )
1995
48
Heterogeneity of the autosomal dominant split hand/split foot malformation. ( 7825599 )
1995
49
Non-Mendelian transmission in a human developmental disorder: split hand/split foot. ( 7942849 )
1994
50
Genes for split hand/split foot and laterality defects on 7q22.1 and Xq24-q27.1. ( 8160746 )
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)
# 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 embryonic hindlimb morphogenesis GO:0035116 9.55 FGF8 TP63
7 positive regulation of mesenchymal cell proliferation GO:0002053 9.54 FBXW4 TP63
8 negative regulation of smoothened signaling pathway GO:0045879 9.51 BTRC SUFU
9 head development GO:0060322 9.49 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 9.28 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:

# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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