MCID: SPL039
MIFTS: 32

Split Foot malady

Bone, Fetal categories

Summaries for Split Foot

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33MalaCards
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MalaCards: 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), and among its related pathways is Hedgehog signaling events mediated by Gli proteins. Affiliated tissues include heart and skin, and related mouse phenotypes are hearing/vestibular/ear and craniofacial.

Aliases & Classifications for Split Foot

Sources:
49Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Aliases & Descriptions:

split foot 49


External Ids:

ICD10 via Orphanet26 Q72.7

Related Diseases for Split Foot

Sources:
17GeneCards, 18GeneDecks
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Diseases in the split foot, bilateral family:

split foot split foot, unilateral

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

(show all 45)
idRelated DiseaseScoreTop Affiliating Genes
1syndactyly30.0TP63, FGF8, SHFM1, FBXW4
2split hand10.9
3split hand foot malformation10.8
4split hand split foot nystagmus10.6
5split hand foot malformation 110.4
6n syndrome10.4
7split hand split foot malformation autosomal recessive10.4
8split foot, bilateral10.4
9split-hand/foot malformation 610.3
10patterson stevenson syndrome10.3
11ulnar hypoplasia - split foot10.3
12split foot, unilateral10.3
13microphthalmia10.2
14limb deficiencies distal with micrognathia10.2
15ectodermal dysplasia10.2
16triphalangeal thumb10.2
17mental retardation10.2
18acro-renal-mandibular syndrome10.2
19split hand, bilateral10.2
20ladd syndrome10.0
21buphthalmos10.0
22aniridia10.0
23coloboma10.0
24microcephaly10.0
25focal dermal hypoplasia10.0
26amelogenesis imperfecta10.0
27hypospadias10.0
28cleft palate10.0
29congenital nystagmus10.0
30urinary tract obstruction10.0
31acrorenal mandibular syndrome10.0
32cleft hand absent tibia10.0
33vertical talus, congenital10.0
34congenital torticollis10.0
35split hand urinary anomalies spina bifida10.0
36neural tube defects10.0
37limb-mammary syndrome10.0
38split hand/foot malformation x-linked10.0
39split-hand/foot malformation 310.0
40split-hand/foot malformation, type 410.0
41split-hand/foot malformation 1 with sensorineural hearing loss10.0
42acro-cardio-facial syndrome10.0
43tibial aplasia - ectrodactyly10.0
44rapp-hodgkin syndrome10.0TP63
45leukemia10.0BTRC, RBP4, LBX1, TLX1

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



Diseases related to split foot

Clinical Features for Split Foot

Drugs & Therapeutics for Split Foot

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search CenterWatch for Split Foot

Genetic Tests for Split Foot

Anatomical Context for Split Foot

Sources:
33MalaCards
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MalaCards organs/tissues related to Split Foot:

33
Heart, Skin

Animal Models for Split Foot or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Split Foot

Sources:
51PubMed
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Articles related to Split Foot:

(show top 50)    (show all 129)
idTitleAuthorsYear
1
Discontinuous microduplications at chromosome 10q24.31 identified in a Chinese family with split hand and foot malformation. (23596994)
2013
2
Split-hand/foot malformation - molecular cause and implications in genetic counseling. (24163146)
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
Identification of a novel DLX5 mutation in a family with autosomal recessive split hand and foot malformation. (22121204)
2012
5
Split hand-split foot-ectodermal dysplasia and amelogenesis imperfecta with a TP63 mutation. (22065540)
2012
6
A novel p63 mutation in a fetus with ultrasound detection of split hand/foot malformation. (22430731)
2012
7
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
8
Split hand-foot malformation, tetralogy of Fallot, mental retardation and a 1 Mb 19p deletion-evidence for further heterogeneity? (19353584)
2009
9
Prenatal diagnosis of concomitant Wolf-Hirschhorn syndrome and split hand-foot malformation associated with partial monosomy 4p (4p16.1-->pter) and partial trisomy 10q (10q25.1-->qter). (18395879)
2008
10
A novel locus for split-hand/foot malformation associated with tibial hemimelia (SHFLD syndrome) maps to chromosome region 17p13.1-17p13.3. (18493797)
2008
11
Split-skin graft in the management of diabetic foot ulcers. (18705232)
2008
12
The association of split hand foot malformation (SHFM) and congenital heart defects. (18383509)
2008
13
A new locus for split hand/foot malformation with long bone deficiency (SHFLD) at 2q14.2 identified from a chromosome translocation. (17569090)
2007
14
Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non-syndromic split-hand/foot malformation. (16761290)
2006
15
Clinical and epidemiological findings in patients with central ray deficiency: split hand foot malformation (SHFM) in Manitoba, Canada. (16673359)
2006
16
The expanding panorama of split hand foot malformation. (16763964)
2006
17
Split-hand/split-foot malformation associated with maternal valproate consumption. (16010085)
2005
18
Increased nuchal translucency and split-hand/foot malformation in a fetus with an interstitial deletion of chromosome 2q that removes the SHFM5 locus. (15662696)
2005
19
Genomic rearrangement at 10q24 in non-syndromic split-hand/split-foot malformation. (16235095)
2005
20
Altered sumoylation of p63alpha contributes to the split-hand/foot malformation phenotype. (15539951)
2004
21
Pathogenesis of split-hand/split-foot malformation. (12668597)
2003
22
Split hand foot malformation is associated with a reduced level of Dactylin gene expression. (12974740)
2003
23
Split hand and foot malformation: ultrasound detection in the first trimester. (12423492)
2002
24
Evidence for autosomal recessive inheritance of split hand/split foot malformation: a report of nine cases. (12072797)
2002
25
Mouse model of split hand/foot malformation type I. (12112878)
2002
26
Unilateral split foot, torticollis, congenital heart defect and hydrocephaly: a new syndrome? (12002147)
2002
27
Split hand/split foot malformation with hearing loss: first report of families linked to the SHFM1 locus in 7q21. (11168022)
2001
28
Holoprosencephaly and split hand/foot: an additional case with this rare association. (11666003)
2001
29
Split-hand/split-foot malformation with paternal mutation in the p63 gene. (11787035)
2001
30
Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27. (10839977)
2000
31
Delineation of a complex karyotypic rearrangement by microdissection and CGH in a family affected with split foot. (10851255)
2000
32
SEM1, a homologue of the split hand/split foot malformation candidate gene Dss1, regulates exocytosis and pseudohyphal differentiation in yeast. (9927667)
1999
33
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
34
Refined mapping of a gene for split hand-split foot malformation (SHFM3) on chromosome 10q25. (9004130)
1996
35
Heterogeneity of the autosomal dominant split hand/split foot malformation. (7825599)
1995
36
Split foot and developmental retardation associated with a deletion of three microsatellite markers in 7q21.2-q22.1. (7606850)
1995
37
Split hand/split foot, syndactyly, urinary tract obstruction, radial, diaphragmatic, and neural tube defects: Czeizel-Losonci syndrome? (8074153)
1994
38
On the inheritance of the split hand/split foot malformation. (7802032)
1994
39
Mapping of the gene for X-chromosomal split-hand/split-foot anomaly to Xq26-q26.1. (8454282)
1993
40
Bilateral split hand and split foot malformation in a boy with a de novo interstitial deletion of 7q21.3. (1895319)
1991
41
Triphalangeal thumb and split foot in the same family. (2098049)
1990
42
Split hand/split foot syndrome with atresia of nasolacrimal ducts and buphthalmos. (2630451)
1989
43
Split--hand and split--foot deformity report of a family with 16 affected individuals in three generations. (7373184)
1980
44
The nasolacrimal ducts and split-hand/split foot syndrome. (885308)
1977
45
Split-hand and split-foot deformity inherited as an autosomal recessive trait. (1248167)
1976
46
Congenital split foot (lobster claw) and triphalangeal thumb. (5578221)
1971
47
Split foot and split hand. (13949144)
1963
48
PERCEPTIVE DIAFNESS ASSOCIATED WITH SPLIT-HAND AND -FOOT, A NEW SYNDROME? (14047125)
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

Genetic Variations for Split Foot

Expression for genes affiliated with Split Foot

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Split Foot

Search GEO for disease gene expression data for Split Foot.

Pathways for genes affiliated with Split Foot

Sources:
38NCBI BioSystems Database
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Pathways related to Split Foot according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7SUFU, BTRC

Compounds for genes affiliated with Split Foot

GO Terms for genes affiliated with Split Foot

Sources:
16Gene Ontology
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Biological processes related to Split Foot according to GeneCards/GeneDecks:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1female genitalia morphogenesisGO:04880710.0TP63, RBP4
2anatomical structure formation involved in morphogenesisGO:04864610.0DLX5, DLX6
3epithelial cell differentiationGO:03085510.0DLX5, DLX6
4urinary bladder developmentGO:0601579.9RBP4, TP63
5inner ear morphogenesisGO:0424729.7HMX2, DLX5, DLX6
6negative regulation of smoothened signaling pathwayGO:0458799.6BTRC, SUFU
7positive regulation of mesenchymal cell proliferationGO:0020539.6TP63, FBXW4
8embryonic limb morphogenesisGO:0303269.6TP63, DLX5, DLX6, FBXW4
9skeletal system developmentGO:0015019.4DLX6, DLX5, SUFU, TP63
10heart loopingGO:0019479.1SUFU, FGF8, LBX1

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

idNameGO IDScoreTop Affiliating Genes
1sequence-specific DNA binding transcription factor activityGO:0037008.1TP63, HMX2, DLX6, LBX1, TLX1

Products for genes affiliated with Split Foot

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Sources for Split Foot

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet