MCID: SPL039
MIFTS: 38

Split Foot malady

Bone diseases, Fetal diseases, Rare diseases categories
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Summaries for Split Foot

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MalaCards based summary: Split Foot is related to syndactyly and split hand. An important gene associated with Split Foot is SHFM1 (split hand/foot malformation (ectrodactyly) type 1). The compound retinoic acid have been mentioned in the context of this disorder. Affiliated tissues include bone and heart, and related mouse phenotypes are hearing/vestibular/ear and digestive/alimentary.

Aliases & Classifications for Split Foot

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Sources:
48Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Split Foot, Aliases & Descriptions:

Name: Split Foot 48


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases, Rare diseases
Anatomical: Bone diseases


External Ids:

ICD10 via Orphanet26 Q72.7
UMLS via Orphanet63 C0432028

Related Diseases for Split Foot

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



Diseases related to split foot

Symptoms for Split Foot

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Drugs & Therapeutics for Split Foot

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Drug clinical trials:

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Genetic Tests for Split Foot

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Anatomical Context for Split Foot

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MalaCards organs/tissues related to Split Foot:

32
Bone, Heart

Animal Models for Split Foot or affiliated genes

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MGI Mouse Phenotypes related to Split Foot:

36 (show all 14)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.4DLX6, DLX5, HMX2, FGF8
2MP:00053819.0FGF8, DLX5, DLX6, TP63
3MP:00053828.9TP63, DLX6, DLX5, FGF8
4MP:00053908.9FBXW4, TP63, DLX6, DLX5, FGF8
5MP:00053918.9TP63, DLX6, DLX5, RBP4, FGF8
6MP:00028738.4LBX1, TP63, DLX5, RBP4, FGF8
7MP:00053718.4FGF8, DLX5, DLX6, TP63, FBXW4, LBX1
8MP:00053698.2LBX1, TP63, DLX5, HMX2, RBP4, FGF8
9MP:00053788.1LBX1, TP63, DLX6, DLX5, HMX2, FGF8
10MP:00053858.0LBX1, TP63, DLX5, RBP4, FGF8
11MP:00107688.0LBX1, FBXW4, TP63, DLX6, DLX5, HMX2
12MP:00036317.8LBX1, TLX1, DLX6, DLX5, HMX2, FGF8
13MP:00053847.7LBX1, TLX1, TP63, DLX5, RBP4, FGF8
14MP:00053807.6LBX1, TLX1, FBXW4, TP63, DLX6, DLX5

Publications for Split Foot

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Articles related to Split Foot:

(show top 50)    (show all 79)
idTitleAuthorsYear
1
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
2
Identification of the deleted in split hand/split foot 1 protein as a novel biomarker for human cervical cancer. (23024267)
2013
3
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
4
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
5
Split hand/split foot deformity with focal dermal hypoplasia (Goltz syndrome). (21078256)
2010
6
Historical note: an analysis of a 17th century illustration of a child with split hand/split foot malformation. (21455467)
2010
7
Abnormal urethra formation in mouse models of split-hand/split-foot malformation type 1 and type 4. (17878916)
2008
8
Split-hand/split-foot malformation associated with maternal valproate consumption. (16010085)
2005
9
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
10
One family investigation and pathogeny research on ectrodactyly, absence of radius side part palm and split foot malformation]. (15476176)
2004
11
Pathogenesis of split-hand/split-foot malformation. (12668597)
2003
12
Split hand/split foot, iris/choroid coloboma, hypospadias and subfertility: a new developmental malformation syndrome? (12401986)
2002
13
Evidence for autosomal recessive inheritance of split hand/split foot malformation: a report of nine cases. (12072797)
2002
14
Split hand/split foot malformation with hearing loss: first report of families linked to the SHFM1 locus in 7q21. (11168022)
2001
15
Genomic organization and embryonic expression of Suppressor of Fused, a candidate gene for the split-hand/split-foot malformation type 3. (11557033)
2001
16
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
17
p63 gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype- phenotype correlation. (11462173)
2001
18
Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27. (10839977)
2000
19
SEM1, a homologue of the split hand/split foot malformation candidate gene Dss1, regulates exocytosis and pseudohyphal differentiation in yeast. (9927667)
1999
20
Fine mapping of the split-hand/split-foot locus (SHFM3) at 10q24: evidence for anticipation and segregation distortion. (10330351)
1999
21
Fluorescent in situ mapping of the murine deleted in split hand/split foot 1 (dss1) gene to chromosome 6. (9271682)
1997
22
A split hand-split foot (SHFM3) gene is located at 10q24-->25. (8723077)
1996
23
A second case of microcephaly, microphthalmia, ectrodactyly (split-foot) and prognathism (MMEP). (8867664)
1996
24
Genetics of split hand and split foot. A case study. (8699344)
1996
25
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
26
Split hand/split foot malformation, deafness, and mental retardation with a complex cytogenetic rearrangement involving 7q21.3. (8782053)
1996
27
Exclusion of linkage between autosomal dominant split hand/split foot and markers from chromosome 7q: further evidence for genetic heterogeneity. (7942863)
1994
28
Genes for split hand/split foot and laterality defects on 7q22.1 and Xq24-q27.1. (8160746)
1994
29
Non-Mendelian transmission in a human developmental disorder: split hand/split foot. (7942849)
1994
30
Split hand/split foot, syndactyly, urinary tract obstruction, radial, diaphragmatic, and neural tube defects: Czeizel-Losonci syndrome? (8074153)
1994
31
Evidence for locus heterogeneity in human autosomal dominant split hand/split foot malformation. (7912888)
1994
32
Fine mapping of the autosomal dominant split hand/split foot locus on chromosome 7, band q21.3-q22.1. (8023840)
1994
33
Mapping of the gene for X-chromosomal split-hand/split-foot anomaly to Xq26-q26.1. (8454282)
1993
34
Split hand/split foot deformity and LADD syndrome in a family: overlap between the EEC and LADD syndromes. (8411061)
1993
35
Split-foot anomaly, microphthalmia, cleft-lip and cleft-palate, and mental retardation associated with a chromosome 6;13 translocation. (8287191)
1993
36
Bilateral split hand and split foot malformation in a boy with a de novo interstitial deletion of 7q21.3. (1895319)
1991
37
Triphalangeal thumb and split foot in the same family. (2098049)
1990
38
Is there an autosomal recessive form of the split hand and split foot malformation? (2918544)
1989
39
Split hand/split foot syndrome with atresia of nasolacrimal ducts and buphthalmos. (2630451)
1989
40
Ectrodactyly (split-hand/split-foot) and ectodermal dysplasia with normal lip and palate in a four-generation kindred. (3233778)
1988
41
X-chromosomally inherited split-hand/split-foot anomaly in a Pakistani kindred. (3817811)
1987
42
Aplasia of tibia with split-hand/split-foot deformity. Report of six families with 35 cases and considerations about variability and penetrance. (4007857)
1985
43
Karsch-Neugebauer syndrome: split foot/split hand and congenital nystagmus. (3978843)
1985
44
The split-hand and split-foot anomaly in a central African Negro population. (6507501)
1984
45
Split--hand and split--foot deformity report of a family with 16 affected individuals in three generations. (7373184)
1980
46
Split-hand and split-foot deformity inherited as an autosomal recessive trait. (1248167)
1976
47
Congenital split foot (lobster claw) and triphalangeal thumb. (5578221)
1971
48
Split foot and split hand. (13949144)
1963
49
Heredofamilial cleft foot deformity (lobster-claw foot or split foot). (20271741)
1947
50
Two Brothers, members of a family with "lobster-claw" (split-hand and split-foot deformity), one showing the Skeletal Deformity and the other Aniridia. (19990206)
1935

Variations for Split Foot

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Expression for genes affiliated with Split Foot

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Expression patterns in normal tissues for genes affiliated with Split Foot

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Pathways for genes affiliated with Split Foot

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Compounds for genes affiliated with Split Foot

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Sources:
44Novoseek, 24HMDB
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Compounds related to Split Foot according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1retinoic acid44 249.6FGF8, RBP4, TP63, LBX1

GO Terms for genes affiliated with Split Foot

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Biological processes related to Split Foot according to GeneCards/GeneDecks:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1anatomical structure formation involved in morphogenesisGO:04864610.1DLX5, DLX6
2positive regulation of epithelial cell proliferationGO:0506799.9DLX5, DLX6
3positive regulation of mesenchymal cell proliferationGO:0020539.9TP63, FBXW4
4female genitalia morphogenesisGO:0488079.9TP63, RBP4
5urinary bladder developmentGO:0601579.9RBP4, TP63
6positive regulation of osteoblast differentiationGO:0456699.9DLX5, TP63
7BMP signaling pathwayGO:0305099.8FGF8, DLX5
8inner ear morphogenesisGO:0424729.8HMX2, DLX5, DLX6
9palate developmentGO:0600219.8DLX5, DLX6
10heart loopingGO:0019479.6FGF8, LBX1
11skeletal system developmentGO:0015019.6DLX5, DLX6, TP63
12epithelial cell differentiationGO:0308559.6DLX6, DLX5
13embryonic limb morphogenesisGO:0303269.4FBXW4, TP63, DLX6, DLX5
14positive regulation of cell proliferationGO:0082848.9FGF8, HMX2, TLX1

Molecular functions related to Split Foot according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcriptionGO:0010779.7DLX5, TP63
2transcription regulatory region sequence-specific DNA bindingGO:0009769.2DLX6, LBX1
3sequence-specific DNA binding transcription factor activityGO:0037007.8HMX2, DLX6, TP63, TLX1, LBX1

Products for genes affiliated with Split Foot

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Sources for Split Foot

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet