SHFM
MCID: SPL037
MIFTS: 33

Split Hand Foot Malformation (SHFM) malady

Categories: Rare diseases, Genetic diseases, Fetal diseases

Aliases & Classifications for Split Hand Foot Malformation

Aliases & Descriptions for Split Hand Foot Malformation:

Name: Split Hand Foot Malformation 50
Ectrodactyly 50 24 52 69
Split-Hand/foot Malformation 69
Split Hand Foot Deformity 1 69
Split Hand Foot Deformity 69
Split Hand/split Foot 24
Shfm 50

Classifications:



Summaries for Split Hand Foot Malformation

NIH Rare Diseases : 50 split hand foot malformation (shfm) is a type of birth defect that consists of missing digits (fingers and/or toes), a deep cleft down the center of the hand or foot, and fusion of remaining digits. the severity of this condition varies widely among affected individuals. shfm is sometimes called ectrodactyly; however, this is a nonspecific term used to describe missing digits. shfm may occur by itself (isolated) or it may be part of a syndrome with abnormalities in other parts of the body. at least six different forms of isolated shfm have been described. each type is associated with a different underlying genetic cause. shfm1 has been linked to chromosome 7, and shfm2 is linked to the x chromosome. shfm3 is caused by a duplication of chromosome 10 at position 10q24. changes (mutations) in the tp63 gene cause shfm4. shfm5 is linked to chromosome 2, and shfm6 is caused by mutations in the wnt10b gene. shfm may be inherited in an autosomal dominant, autosomal recessive, or x-linked manner. last updated: 1/22/2014

MalaCards based summary : Split Hand Foot Malformation, also known as ectrodactyly, is related to split hand foot malformation 1 and split-hand/foot malformation 1 with sensorineural hearing loss. An important gene associated with Split Hand Foot Malformation is TP63 (Tumor Protein P63), and among its related pathways/superpathways are TP53 Network and Sumoylation by RanBP2 regulates transcriptional repression. Affiliated tissues include bone and heart, and related phenotypes are limbs/digits/tail and no phenotypic analysis

Related Diseases for Split Hand Foot Malformation

Diseases in the Split Hand Foot Malformation family:

Split-Hand/foot Malformation 5 Split-Hand/foot Malformation 4
Split-Hand/foot Malformation 6 Split-Hand/foot Malformation 3
Split Hand Foot Malformation 1

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

(show all 44)
id Related Disease Score Top Affiliating Genes
1 split hand foot malformation 1 12.6
2 split-hand/foot malformation 1 with sensorineural hearing loss 12.6
3 split-hand/foot malformation 6 12.5
4 split-hand/foot malformation with long bone deficiency 3 12.5
5 split-hand/foot malformation 4 12.5
6 split hand split foot nystagmus 12.5
7 split-hand/foot malformation 3 12.5
8 split-hand/foot malformation 5 12.4
9 split hand/foot malformation x-linked 12.4
10 split-hand/foot malformation with long bone deficiency 1 12.3
11 split-hand/foot malformation with long bone deficiency 2 12.2
12 ectodermal dysplasia, ectrodactyly, and macular dystrophy 12.2
13 ectrodactyly with tibial hemimelia 11.4
14 split hand-split foot malformation 11.3
15 brachydactyly-ectrodactyly with fibular aplasia or hypoplasia 11.2
16 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 11.2
17 eec syndrome 11.0
18 split hand split foot malformation autosomal recessive 11.0
19 split hand 10.7
20 vlcad deficiency 10.3 BHLHA9 SHFLD3
21 atrioventricular septal defect with blepharophimosis and anal and radial defects 10.2 FBXW4 SHFM3
22 hypomyelinating leukodystrophy 13 10.2 TP63 WNT10B
23 3mc syndrome 1 10.2 DLX5 SEM1 TP63
24 hypoparathyroidism 10.1 BHLHA9 FBXW4 TP63
25 spondylocostal dysostosis 4 10.1 DLX5 MAP3K20
26 tongue disease 10.0 DLX5 SEM1
27 hypogonadism 10.0
28 hypogonadotropism 10.0
29 mondini dysplasia 10.0
30 congenital absence of both lower leg and foot 9.9 BHLHA9 DLX5 FBXW4 SEM1 TP63 WNT10B
31 chronic ethmoiditis 9.9 FGFR1 SUMO1 TP63
32 angiocentric glioma 9.9 DLX5 FBXW4 SEM1 SHFM2 TP63 WNT10B
33 taeniasis 9.9 FGFR1 SUMO1 TP63 WNT10B
34 cleft lip/palate 9.9
35 sensorineural hearing loss 9.9
36 cerebral degeneration 9.9
37 cerebritis 9.9
38 wolf-hirschhorn syndrome 9.9
39 cleft lip 9.9
40 tetralogy of fallot 9.9
41 tibial hemimelia 9.9
42 alpha thalassemia-x-linked intellectual disability syndrome 9.7 BHLHA9 DLX5 FBXW4 MAP3K20 SEM1 TP63
43 congenital absence/hypoplasia of thumb 9.6 DLX5 FBXW4 MAP3K20 SEM1 SEM1P1 SHFM2
44 spondylocostal dysostosis 3 7.7 BHLHA9 DLX5 FBXW4 FBXW4P1 FGFR1 GLI2

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



Diseases related to Split Hand Foot Malformation

Symptoms & Phenotypes for Split Hand Foot Malformation

MGI Mouse Phenotypes related to Split Hand Foot Malformation:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 9.5 HAND2 TP63 BHLHA9 DLX5 FBXW4 FGFR1
2 no phenotypic analysis MP:0003012 9.17 HAND2 TP63 UBE2I WNT10B FBXW4 FGFR1

Drugs & Therapeutics for Split Hand Foot Malformation

Interventional clinical trials:


id Name Status NCT ID Phase
1 Ability of a Molecule (Prima) to Restore Physiological Differentiation in Epithelium Expressing Gene p63 Recruiting NCT02896387

Search NIH Clinical Center for Split Hand Foot Malformation

Genetic Tests for Split Hand Foot Malformation

Genetic tests related to Split Hand Foot Malformation:

id Genetic test Affiliating Genes
1 Ectrodactyly 24 TP63

Anatomical Context for Split Hand Foot Malformation

MalaCards organs/tissues related to Split Hand Foot Malformation:

39
Bone, Heart

Publications for Split Hand Foot Malformation

Articles related to Split Hand Foot Malformation:

(show top 50) (show all 56)
id Title Authors Year
1
FGFR1 Analyses in Four Patients with Hypogonadotropic Hypogonadism with Split-Hand/Foot Malformation: Implications for the Promoter Region. ( 28087897 )
2017
2
Split Hand / Foot Malformation Syndrome with Cerebral Degeneration. ( 27730782 )
2016
3
Phenotypic subregions within the split-hand/foot malformation 1 locus. ( 26839112 )
2016
4
A Novel Heterozygous Frameshift Mutation in DLX5 Gene Underlies Isolated Split Hand Foot Malformation type 1. ( 27085093 )
2016
5
Recurrence of split hand/foot malformation, cleft lip/palate, and severe urogenital abnormalities due to germline mosaicism for TP63 mutation. ( 27351625 )
2016
6
Split Hand/Foot Malformation Associated with 7q21.3 Microdeletion: A Case Report. ( 27022330 )
2016
7
Split hand/foot malformation genetics supports the chromosome 7 copy segregation mechanism for human limb development. ( 27821526 )
2016
8
Split hand/foot malformations with microdeletions at chromosomes 7 and 19 detected using array comparative genomic hybridization. ( 25675931 )
2015
9
Identification of Critical Region Responsible for Split Hand/Foot Malformation Type 3 (SHFM3) Phenotype through Systematic Review of Literature and Mapping of Breakpoints Using Microarray Data. ( 27600068 )
2015
10
Selective chromatid segregation mechanism proposed for the human split hand/foot malformation development by chromosome 2 translocations: A perspective. ( 26477560 )
2015
11
Array comparative genomic hybridization characterization of multiple interstitial deletions involving 7p22.1, 7q11.23, 7q21.3-q22.1, 19p13.3-p12, and 19q13.11-q13.43 in a fetus associated with split hand-foot malformation. Role of EPS15L1 in pathogenesis. ( 26384072 )
2015
12
Exome sequencing reveals a heterozygous DLX5 mutation in a Chinese family with autosomal-dominant split-hand/foot malformation. ( 24496061 )
2014
13
Split hand/foot malformation syndrome (SHFM): rare congenital orthopaedic disorder. ( 24973351 )
2014
14
Heterozygous DLX5 nonsense mutation associated with isolated split-hand/foot malformation with reduced penetrance and variable expressivity in two unrelated families. ( 25196357 )
2014
15
Novel homozygous mutations in the WNT10B gene underlying autosomal recessive split hand/foot malformation in three consanguineous families. ( 24211389 )
2014
16
Japanese founder duplications/triplications involving BHLHA9 are associated with split-hand/foot malformation with or without long bone deficiency and Gollop-Wolfgang complex. ( 25351291 )
2014
17
Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations. ( 25394172 )
2014
18
Prenatally diagnosed fetal split-hand/foot malformations often accompany a spectrum of anomalies. ( 24371113 )
2014
19
Anorectal malformation associated with a mutation in the P63 gene in a family with split hand-foot malformation. ( 23736768 )
2013
20
A rare case of split hand/foot malformation with sensorineural hearing loss and Mondini dysplasia. ( 23168687 )
2013
21
Clinical, genetic, and molecular aspects of split-hand/foot malformation: an update. ( 24115638 )
2013
22
Split hand/foot malformation with long-bone deficiency and BHLHA9 duplication: report of 13 new families. ( 23790188 )
2013
23
Split-hand/foot malformation - molecular cause and implications in genetic counseling. ( 24163146 )
2013
24
A rare complex malformation of the hand in split hand foot malformation type 3 (SHFM3). ( 23722700 )
2013
25
Split-hand/foot malformation with long-bone deficiency and BHLHA9 duplication: two cases and expansion of the phenotype to radial agenesis. ( 23202277 )
2013
26
A novel homozygous missense mutation in WNT10B in familial split-hand/foot malformation. ( 21554266 )
2012
27
A novel p63 mutation in a fetus with ultrasound detection of split hand/foot malformation. ( 22430731 )
2012
28
17p13.3 microduplications are associated with split-hand/foot malformation and long-bone deficiency (SHFLD). ( 21629300 )
2011
29
Distal limb deficiencies, micrognathia syndrome, and syndromic forms of split hand foot malformation (SHFM) are caused by chromosome 10q genomic rearrangements. ( 19584065 )
2010
30
Homozygous nonsense mutation in WNT10B and sporadic split-hand/foot malformation (SHFM) with autosomal recessive inheritance. ( 20635353 )
2010
31
Refinement of the Region for Split Hand/Foot Malformation 5 on 2q31.1. ( 22140379 )
2010
32
4q32-q35 and 6q16-q22 are valuable candidate regions for split hand/foot malformation. ( 19223930 )
2009
33
Split hand-foot malformation, tetralogy of Fallot, mental retardation and a 1 Mb 19p deletion-evidence for further heterogeneity? ( 19353584 )
2009
34
Split hand/foot malformation due to chromosome 7q aberrations(SHFM1): additional support for functional haploinsufficiency as the causative mechanism. ( 19401716 )
2009
35
The association of split hand foot malformation (SHFM) and congenital heart defects. ( 18383509 )
2008
36
Split hand foot malformation with whorl-like pigmentary pattern: phenotypic expression of somatic mosaicism for the p63 mutation. ( 18792980 )
2008
37
A novel locus for split-hand/foot malformation associated with tibial hemimelia (SHFLD syndrome) maps to chromosome region 17p13.1-17p13.3. ( 18493797 )
2008
38
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
39
Homozygous WNT10b mutation and complex inheritance in Split-Hand/Foot Malformation. ( 18515319 )
2008
40
Genomewide linkage scan for split-hand/foot malformation with long-bone deficiency in a large Arab family identifies two novel susceptibility loci on chromosomes 1q42.2-q43 and 6q14.1. ( 17160898 )
2007
41
A new locus for split hand/foot malformation with long bone deficiency (SHFLD) at 2q14.2 identified from a chromosome translocation. ( 17569090 )
2007
42
Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non-syndromic split-hand/foot malformation. ( 16761290 )
2006
43
Evidence for an additional locus for split hand/foot malformation in chromosome region 8q21.11-q22.3. ( 16838310 )
2006
44
Clinical and epidemiological findings in patients with central ray deficiency: split hand foot malformation (SHFM) in Manitoba, Canada. ( 16673359 )
2006
45
The expanding panorama of split hand foot malformation. ( 16763964 )
2006
46
Genotype-phenotype correlations in mapped split hand foot malformation (SHFM) patients. ( 16688749 )
2006
47
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
48
Discrepancies in upper and lower limb patterning in split hand foot malformation. ( 16207208 )
2005
49
Split hand foot malformation (SHFM). ( 16283879 )
2005
50
Refinement of the deletion in 7q21.3 associated with split hand/foot malformation type 1 and Mondini dysplasia. ( 15121782 )
2004

Variations for Split Hand Foot Malformation

Expression for Split Hand Foot Malformation

Search GEO for disease gene expression data for Split Hand Foot Malformation.

Pathways for Split Hand Foot Malformation

Pathways related to Split Hand Foot Malformation according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
10.3 SUMO1 TP63
2 9.66 SUMO1 UBE2I

GO Terms for Split Hand Foot Malformation

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

(show all 15)
id Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription from RNA polymerase II promoter GO:0000122 9.93 FGFR1 GLI2 SUMO1 TP63 UBE2I WNT10B
2 positive regulation of canonical Wnt signaling pathway GO:0090263 9.71 DLX5 SEM1 WNT10B
3 skeletal system development GO:0001501 9.71 DLX5 FGFR1 GLI2 TP63
4 palate development GO:0060021 9.67 DLX5 HAND2 SUMO1
5 odontogenesis of dentin-containing tooth GO:0042475 9.61 GLI2 HAND2 TP63
6 proximal/distal pattern formation GO:0009954 9.55 GLI2 TP63
7 chondrocyte differentiation GO:0002062 9.54 FGFR1 GLI2 WNT10B
8 sympathetic nervous system development GO:0048485 9.52 HAND2 TP63
9 head development GO:0060322 9.51 DLX5 GLI2
10 positive regulation of mesenchymal cell proliferation GO:0002053 9.43 FBXW4 FGFR1 TP63
11 anatomical structure formation involved in morphogenesis GO:0048646 9.33 DLX5 GLI2 TP63
12 prostatic bud formation GO:0060513 9.32 GLI2 TP63
13 embryonic digit morphogenesis GO:0042733 9.26 FBXW4 GLI2 HAND2 MAP3K20
14 embryonic limb morphogenesis GO:0030326 8.92 DLX5 FBXW4 FGFR1 TP63
15 multicellular organism development GO:0007275 10.02 BHLHA9 DLX5 FBXW4 GLI2 HAND2 TP63

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

id Name GO ID Score Top Affiliating Genes
1 transcription factor binding GO:0008134 9.62 GLI2 HAND2 SUMO1 UBE2I
2 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding GO:0001077 9.46 DLX5 GLI2 HAND2 TP63
3 SUMO transferase activity GO:0019789 9.26 SUMO1 UBE2I
4 transcription regulatory region DNA binding GO:0044212 9.26 DLX5 GLI2 HAND2 TP63
5 small protein activating enzyme binding GO:0044388 8.62 SUMO1 UBE2I

Sources for Split Hand Foot Malformation

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