MCID: SPL061
MIFTS: 37

Split Hand-Foot Malformation

Categories: Rare diseases, Bone diseases, Ear diseases, Genetic diseases, Fetal diseases

Aliases & Classifications for Split Hand-Foot Malformation

MalaCards integrated aliases for Split Hand-Foot Malformation:

Name: Split Hand-Foot Malformation 12 15
Split-Hand/foot Malformation 37 6 73
Ectrodactyly 53 73
Split Hand Foot Malformation 53
Split Hand Foot Deformity 1 73
Split Hand Foot Deformity 73
Lobster-Claw Deformity 12
Split-Hand Deformity 12
Shfm 53

Classifications:



External Ids:

Disease Ontology 12 DOID:0090020
ICD10 33 Q71.6
KEGG 37 H00471

Summaries for Split Hand-Foot Malformation

NIH Rare Diseases : 53 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.

MalaCards based summary : Split Hand-Foot Malformation, also known as split-hand/foot malformation, 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 Hand-Foot Malformation is FBXW4 (F-Box And WD Repeat Domain Containing 4), and among its related pathways/superpathways is Signaling pathways regulating pluripotency of stem cells. Affiliated tissues include bone and heart, and related phenotypes are embryo and limbs/digits/tail

Disease Ontology : 12 A bone development disease characterized by malformation of the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients also have mental retardation, ectodermal and craniofacial findings, and orofacial clefting.

Related Diseases for Split Hand-Foot Malformation

Diseases in the Split Hand-Foot Malformation family:

Split-Hand/foot Malformation 1 Split-Hand/foot Malformation 6
Split-Hand/foot Malformation 3 Split-Hand/foot Malformation 2
Split-Hand/foot Malformation 4 Split-Hand/foot Malformation 5

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

(show all 46)
# Related Disease Score Top Affiliating Genes
1 split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive 34.7 DLX5 SEM1
2 split-hand/foot malformation 1 33.5 DLX5 MAP3K20 SEM1 TP63
3 split-hand/foot malformation 3 33.3 DLX5 FBXW4 SEM1 TP63 WNT10B
4 split-hand/foot malformation 4 33.1 DLX5 FBXW4 SEM1 TP63 WNT10B
5 split-hand/foot malformation 6 32.7 BHLHA9 DLX5 FBXW4 SEM1 TP63 WNT10B
6 split-hand/foot malformation 5 32.5 DLX5 FBXW4 SEM1 SHFM5 TP63 WNT10B
7 split-hand/foot malformation 2 32.4 DLX5 FBXW4 SEM1 SHFM2 TP63 WNT10B
8 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 32.4 TP63 WNT10B
9 isolated split hand-split foot malformation 31.8 DLX5 SEM1 TP63 WNT10B
10 split-hand/foot malformation with long bone deficiency 1 12.6
11 split hand/foot malformation x-linked 12.6
12 ulnar hypoplasia with lobster-claw deformity of feet 12.5
13 split-hand/foot malformation with long bone deficiency 2 12.4
14 chromosome 17p13.3, telomeric, duplication syndrome 12.2
15 tibial aplasia-ectrodactyly syndrome 11.9
16 brachydactyly-ectrodactyly with fibular aplasia or hypoplasia 11.3
17 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 11.3
18 fibular aplasia, tibial campomelia, and oligosyndactyly syndrome 11.2
19 microphthalmia, syndromic 8 11.2
20 split hand split foot malformation autosomal recessive 11.2
21 paranoid personality disorder 10.3 DLX5 SEM1
22 hypogonadotropic hypogonadism 10.2
23 hypogonadism 10.2
24 hypogonadotropism 10.2
25 mondini dysplasia 10.1
26 rapp-hodgkin syndrome 10.0 DLX5 SEM1 TP63
27 tetralogy of fallot 10.0
28 wolf-hirschhorn syndrome 10.0
29 femur, unilateral bifid, with monodactylous ectrodactyly 10.0
30 tibial hemimelia 10.0
31 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
32 sensorineural hearing loss 10.0
33 cerebral degeneration 10.0
34 cerebritis 10.0
35 cleft lip 10.0
36 type i 10.0
37 chromosome 10q duplication 10.0
38 chromosome 19p deletion 10.0
39 chromosome 4p deletion 10.0
40 femur bifid with monodactylous ectrodactyly 10.0
41 cleft lip/palate 10.0
42 orofacial cleft 9.7 DLX5 FGFR1 TP63
43 lobar holoprosencephaly 9.7 FGFR1 GLI2
44 microform holoprosencephaly 9.6 FGFR1 GLI2
45 lacrimoauriculodentodigital syndrome 9.5 FGFR1 TP63
46 semilobar holoprosencephaly 9.5 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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.7 DLX5 FBXW4 FGFR1 GLI2 MAP3K20 TP63
2 limbs/digits/tail MP:0005371 9.5 BHLHA9 DLX5 FBXW4 FGFR1 GLI2 MAP3K20
3 no phenotypic analysis MP:0003012 9.1 FBXW4 FGFR1 GLI2 TP63 UBE2I WNT10B

Drugs & Therapeutics for Split Hand-Foot Malformation

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
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

Anatomical Context for Split Hand-Foot Malformation

MalaCards organs/tissues related to Split Hand-Foot Malformation:

41
Bone, Heart

Publications for Split Hand-Foot Malformation

Articles related to Split Hand-Foot Malformation:

(show top 50) (show all 66)
# Title Authors Year
1
Homozygous sequence variants in the WNT10B gene underlie split hand/foot malformation. ( 29384555 )
2018
2
17p13.3 genomic rearrangement in a Chinese family with split-hand/foot malformation with long bone deficiency: report of a complicated duplication with marked variation in phenotype. ( 29970136 )
2018
3
Split hand-foot malformation and a novel WNT10B mutation. ( 29427788 )
2018
4
Bilateral split hand foot malformation in siblings: Case series. ( 29499514 )
2018
5
Microduplications of 10q24 Detected in Two Chinese Patients with Split-hand/foot Malformation Type 3. ( 29263051 )
2017
6
Split hand/foot malformation: a potential clue to underlying FGFR1 mutation in patients with isolated congenital hypogonadotropic hypogonadism. ( 29146774 )
2017
7
A Novel Heterozygous Intragenic Sequence Variant in DLX6 Probably Underlies First Case of Autosomal Dominant Split-Hand/Foot Malformation Type 1. ( 28611547 )
2017
8
FGFR1 Analyses in Four Patients with Hypogonadotropic Hypogonadism with Split-Hand/Foot Malformation: Implications for the Promoter Region. ( 28087897 )
2017
9
Copy-number variants and candidate gene mutations in isolated split hand/foot malformation. ( 28539665 )
2017
10
Molecular Genetic Characterization of a Chinese Family with Severe Split Hand/Foot Malformation. ( 28422522 )
2017
11
A New Split Hand/Foot Malformation with Long Bone Deficiency Familial Case. ( 28496997 )
2017
12
A Novel Heterozygous Frameshift Mutation in DLX5 Gene Underlies Isolated Split Hand Foot Malformation type 1. ( 27085093 )
2016
13
Recurrence of split hand/foot malformation, cleft lip/palate, and severe urogenital abnormalities due to germline mosaicism for TP63 mutation. ( 27351625 )
2016
14
Split Hand/Foot Malformation Associated with 7q21.3 Microdeletion: A Case Report. ( 27022330 )
2016
15
Split Hand / Foot Malformation Syndrome with Cerebral Degeneration. ( 27730782 )
2016
16
Split hand/foot malformation genetics supports the chromosome 7 copy segregation mechanism for human limb development. ( 27821526 )
2016
17
Phenotypic subregions within the split-hand/foot malformation 1 locus. ( 26839112 )
2016
18
Split hand/foot malformations with microdeletions at chromosomes 7 and 19 detected using array comparative genomic hybridization. ( 25675931 )
2015
19
Selective chromatid segregation mechanism proposed for the human split hand/foot malformation development by chromosome 2 translocations: A perspective. ( 26477560 )
2015
20
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
21
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
22
Heterozygous DLX5 nonsense mutation associated with isolated split-hand/foot malformation with reduced penetrance and variable expressivity in two unrelated families. ( 25196357 )
2014
23
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
24
Prenatally diagnosed fetal split-hand/foot malformations often accompany a spectrum of anomalies. ( 24371113 )
2014
25
Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations. ( 25394172 )
2014
26
Split hand/foot malformation syndrome (SHFM): rare congenital orthopaedic disorder. ( 24973351 )
2014
27
Novel homozygous mutations in the WNT10B gene underlying autosomal recessive split hand/foot malformation in three consanguineous families. ( 24211389 )
2014
28
Exome sequencing reveals a heterozygous DLX5 mutation in a Chinese family with autosomal-dominant split-hand/foot malformation. ( 24496061 )
2014
29
Split-hand/foot malformation - molecular cause and implications in genetic counseling. ( 24163146 )
2013
30
A rare case of split hand/foot malformation with sensorineural hearing loss and Mondini dysplasia. ( 23168687 )
2013
31
Split hand/foot malformation with long-bone deficiency and BHLHA9 duplication: report of 13 new families. ( 23790188 )
2013
32
Split-hand/foot malformation with long-bone deficiency and BHLHA9 duplication: two cases and expansion of the phenotype to radial agenesis. ( 23202277 )
2013
33
Clinical, genetic, and molecular aspects of split-hand/foot malformation: an update. ( 24115638 )
2013
34
Anorectal malformation associated with a mutation in the P63 gene in a family with split hand-foot malformation. ( 23736768 )
2013
35
A rare complex malformation of the hand in split hand foot malformation type 3 (SHFM3). ( 23722700 )
2013
36
A novel homozygous missense mutation in WNT10B in familial split-hand/foot malformation. ( 21554266 )
2012
37
A novel p63 mutation in a fetus with ultrasound detection of split hand/foot malformation. ( 22430731 )
2012
38
17p13.3 microduplications are associated with split-hand/foot malformation and long-bone deficiency (SHFLD). ( 21629300 )
2011
39
Homozygous nonsense mutation in WNT10B and sporadic split-hand/foot malformation (SHFM) with autosomal recessive inheritance. ( 20635353 )
2010
40
Distal limb deficiencies, micrognathia syndrome, and syndromic forms of split hand foot malformation (SHFM) are caused by chromosome 10q genomic rearrangements. ( 19584065 )
2010
41
Refinement of the Region for Split Hand/Foot Malformation 5 on 2q31.1. ( 22140379 )
2010
42
4q32-q35 and 6q16-q22 are valuable candidate regions for split hand/foot malformation. ( 19223930 )
2009
43
Split hand-foot malformation, tetralogy of Fallot, mental retardation and a 1 Mb 19p deletion-evidence for further heterogeneity? ( 19353584 )
2009
44
Split hand/foot malformation due to chromosome 7q aberrations(SHFM1): additional support for functional haploinsufficiency as the causative mechanism. ( 19401716 )
2009
45
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
46
Split hand foot malformation with whorl-like pigmentary pattern: phenotypic expression of somatic mosaicism for the p63 mutation. ( 18792980 )
2008
47
The association of split hand foot malformation (SHFM) and congenital heart defects. ( 18383509 )
2008
48
A novel locus for split-hand/foot malformation associated with tibial hemimelia (SHFLD syndrome) maps to chromosome region 17p13.1-17p13.3. ( 18493797 )
2008
49
Homozygous WNT10b mutation and complex inheritance in Split-Hand/Foot Malformation. ( 18515319 )
2008
50
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

Variations for Split Hand-Foot Malformation

ClinVar genetic disease variations for Split Hand-Foot Malformation:

6
(show top 50) (show all 64)
# Gene Variation Type Significance SNP ID Assembly Location
1 FBXW4 NM_022039.3(FBXW4): c.69C> G (p.Ala23=) single nucleotide variant Benign/Likely benign rs61761937 GRCh37 Chromosome 10, 103454329: 103454329
2 FBXW4 NM_022039.3(FBXW4): c.69C> G (p.Ala23=) single nucleotide variant Benign/Likely benign rs61761937 GRCh38 Chromosome 10, 101694572: 101694572
3 FBXW4 NM_022039.3(FBXW4): c.7G> C (p.Ala3Pro) single nucleotide variant Benign/Likely benign rs111600818 GRCh37 Chromosome 10, 103454391: 103454391
4 FBXW4 NM_022039.3(FBXW4): c.7G> C (p.Ala3Pro) single nucleotide variant Benign/Likely benign rs111600818 GRCh38 Chromosome 10, 101694634: 101694634
5 FBXW4 NM_022039.3(FBXW4): c.-5T> A single nucleotide variant Benign/Likely benign rs61382490 GRCh37 Chromosome 10, 103454402: 103454402
6 FBXW4 NM_022039.3(FBXW4): c.-5T> A single nucleotide variant Benign/Likely benign rs61382490 GRCh38 Chromosome 10, 101694645: 101694645
7 FBXW4 NM_022039.3(FBXW4): c.945T> C (p.Tyr315=) single nucleotide variant Benign/Likely benign rs35614606 GRCh37 Chromosome 10, 103372126: 103372126
8 FBXW4 NM_022039.3(FBXW4): c.945T> C (p.Tyr315=) single nucleotide variant Benign/Likely benign rs35614606 GRCh38 Chromosome 10, 101612369: 101612369
9 FBXW4 NM_022039.3(FBXW4): c.*453C> T single nucleotide variant Uncertain significance rs570558261 GRCh37 Chromosome 10, 103370595: 103370595
10 FBXW4 NM_022039.3(FBXW4): c.*453C> T single nucleotide variant Uncertain significance rs570558261 GRCh38 Chromosome 10, 101610838: 101610838
11 FBXW4 NM_022039.3(FBXW4): c.*259C> T single nucleotide variant Likely benign rs80085258 GRCh37 Chromosome 10, 103370789: 103370789
12 FBXW4 NM_022039.3(FBXW4): c.*259C> T single nucleotide variant Likely benign rs80085258 GRCh38 Chromosome 10, 101611032: 101611032
13 FBXW4 NM_022039.3(FBXW4): c.837-9C> T single nucleotide variant Uncertain significance rs771930157 GRCh38 Chromosome 10, 101612486: 101612486
14 FBXW4 NM_022039.3(FBXW4): c.837-9C> T single nucleotide variant Uncertain significance rs771930157 GRCh37 Chromosome 10, 103372243: 103372243
15 FBXW4 NM_022039.3(FBXW4): c.458G> A (p.Arg153His) single nucleotide variant Uncertain significance rs771654851 GRCh37 Chromosome 10, 103433329: 103433329
16 FBXW4 NM_022039.3(FBXW4): c.458G> A (p.Arg153His) single nucleotide variant Uncertain significance rs771654851 GRCh38 Chromosome 10, 101673572: 101673572
17 FBXW4 NM_022039.3(FBXW4): c.245G> A (p.Arg82Gln) single nucleotide variant Uncertain significance rs886046642 GRCh37 Chromosome 10, 103454153: 103454153
18 FBXW4 NM_022039.3(FBXW4): c.245G> A (p.Arg82Gln) single nucleotide variant Uncertain significance rs886046642 GRCh38 Chromosome 10, 101694396: 101694396
19 FBXW4 NM_022039.3(FBXW4): c.38_40delAGG (p.Glu13del) deletion Likely benign rs780365225 GRCh37 Chromosome 10, 103454358: 103454360
20 FBXW4 NM_022039.3(FBXW4): c.38_40delAGG (p.Glu13del) deletion Likely benign rs780365225 GRCh38 Chromosome 10, 101694601: 101694603
21 FBXW4 NM_022039.3(FBXW4): c.-26C> A single nucleotide variant Likely benign rs117664315 GRCh37 Chromosome 10, 103454423: 103454423
22 FBXW4 NM_022039.3(FBXW4): c.-26C> A single nucleotide variant Likely benign rs117664315 GRCh38 Chromosome 10, 101694666: 101694666
23 FBXW4 NM_022039.3(FBXW4): c.-92T> C single nucleotide variant Uncertain significance rs886046646 GRCh37 Chromosome 10, 103454489: 103454489
24 FBXW4 NM_022039.3(FBXW4): c.-92T> C single nucleotide variant Uncertain significance rs886046646 GRCh38 Chromosome 10, 101694732: 101694732
25 FBXW4 NM_022039.3(FBXW4): c.-250G> A single nucleotide variant Likely benign rs77990860 GRCh37 Chromosome 10, 103454647: 103454647
26 FBXW4 NM_022039.3(FBXW4): c.-250G> A single nucleotide variant Likely benign rs77990860 GRCh38 Chromosome 10, 101694890: 101694890
27 FBXW4 NM_022039.3(FBXW4): c.*233G> T single nucleotide variant Uncertain significance rs535051082 GRCh37 Chromosome 10, 103370815: 103370815
28 FBXW4 NM_022039.3(FBXW4): c.*233G> T single nucleotide variant Uncertain significance rs535051082 GRCh38 Chromosome 10, 101611058: 101611058
29 FBXW4 NM_022039.3(FBXW4): c.1192G> A (p.Ala398Thr) single nucleotide variant Uncertain significance rs200476624 GRCh37 Chromosome 10, 103371095: 103371095
30 FBXW4 NM_022039.3(FBXW4): c.1192G> A (p.Ala398Thr) single nucleotide variant Uncertain significance rs200476624 GRCh38 Chromosome 10, 101611338: 101611338
31 FBXW4 NM_022039.3(FBXW4): c.-274G> A single nucleotide variant Uncertain significance rs886046647 GRCh37 Chromosome 10, 103454671: 103454671
32 FBXW4 NM_022039.3(FBXW4): c.-274G> A single nucleotide variant Uncertain significance rs886046647 GRCh38 Chromosome 10, 101694914: 101694914
33 FBXW4 NM_022039.3(FBXW4): c.-332C> T single nucleotide variant Uncertain significance rs557225276 GRCh37 Chromosome 10, 103454729: 103454729
34 FBXW4 NM_022039.3(FBXW4): c.-332C> T single nucleotide variant Uncertain significance rs557225276 GRCh38 Chromosome 10, 101694972: 101694972
35 FBXW4 NM_022039.3(FBXW4): c.*7G> C single nucleotide variant Likely benign rs73349895 GRCh37 Chromosome 10, 103371041: 103371041
36 FBXW4 NM_022039.3(FBXW4): c.*7G> C single nucleotide variant Likely benign rs73349895 GRCh38 Chromosome 10, 101611284: 101611284
37 FBXW4 NM_022039.3(FBXW4): c.789G> A (p.Thr263=) single nucleotide variant Uncertain significance rs142870264 GRCh37 Chromosome 10, 103384549: 103384549
38 FBXW4 NM_022039.3(FBXW4): c.789G> A (p.Thr263=) single nucleotide variant Uncertain significance rs142870264 GRCh38 Chromosome 10, 101624792: 101624792
39 FBXW4 NM_022039.3(FBXW4): c.770+13T> G single nucleotide variant Uncertain significance rs193073481 GRCh37 Chromosome 10, 103427630: 103427630
40 FBXW4 NM_022039.3(FBXW4): c.770+13T> G single nucleotide variant Uncertain significance rs193073481 GRCh38 Chromosome 10, 101667873: 101667873
41 FBXW4 NM_022039.3(FBXW4): c.716A> G (p.His239Arg) single nucleotide variant Uncertain significance rs151048089 GRCh37 Chromosome 10, 103427697: 103427697
42 FBXW4 NM_022039.3(FBXW4): c.716A> G (p.His239Arg) single nucleotide variant Uncertain significance rs151048089 GRCh38 Chromosome 10, 101667940: 101667940
43 FBXW4 NM_022039.3(FBXW4): c.42_44dupGGC (p.Ala15_Arg16insAla) duplication Uncertain significance rs768227529 GRCh37 Chromosome 10, 103454354: 103454356
44 FBXW4 NM_022039.3(FBXW4): c.42_44dupGGC (p.Ala15_Arg16insAla) duplication Uncertain significance rs768227529 GRCh38 Chromosome 10, 101694597: 101694599
45 FBXW4 NM_022039.3(FBXW4): c.261-12G> T single nucleotide variant Uncertain significance rs755969920 GRCh38 Chromosome 10, 101676448: 101676448
46 FBXW4 NM_022039.3(FBXW4): c.*606A> C single nucleotide variant Uncertain significance rs886046641 GRCh37 Chromosome 10, 103370442: 103370442
47 FBXW4 NM_022039.3(FBXW4): c.*606A> C single nucleotide variant Uncertain significance rs886046641 GRCh38 Chromosome 10, 101610685: 101610685
48 FBXW4 NM_022039.3(FBXW4): c.*311_*314dupTATT duplication Uncertain significance rs562226127 GRCh37 Chromosome 10, 103370734: 103370737
49 FBXW4 NM_022039.3(FBXW4): c.*311_*314dupTATT duplication Uncertain significance rs562226127 GRCh38 Chromosome 10, 101610977: 101610980
50 FBXW4 NM_022039.3(FBXW4): c.1008C> T (p.His336=) single nucleotide variant Uncertain significance rs147424741 GRCh37 Chromosome 10, 103371496: 103371496

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:

# Super pathways Score Top Affiliating Genes
1 10.94 DLX5 FGFR1 WNT10B

GO Terms for Split Hand-Foot Malformation

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 9.85 FGFR1 GLI2 TP63 UBE2I WNT10B
2 cell proliferation GO:0008283 9.8 DLX5 GLI2 MAP3K20 TP63
3 multicellular organism development GO:0007275 9.8 BHLHA9 DLX5 FBXW4 FGFR1 GLI2 TP63
4 positive regulation of canonical Wnt signaling pathway GO:0090263 9.71 DLX5 SEM1 WNT10B
5 skeletal system development GO:0001501 9.62 DLX5 FGFR1 GLI2 TP63
6 embryonic digit morphogenesis GO:0042733 9.61 FBXW4 GLI2 MAP3K20
7 limb development GO:0060173 9.56 FBXW4 MAP3K20
8 proximal/distal pattern formation GO:0009954 9.55 GLI2 TP63
9 chondrocyte differentiation GO:0002062 9.54 FGFR1 GLI2 WNT10B
10 head development GO:0060322 9.52 DLX5 GLI2
11 prostate gland development GO:0030850 9.51 GLI2 TP63
12 ear development GO:0043583 9.48 DLX5 FGFR1
13 prostatic bud formation GO:0060513 9.4 GLI2 TP63
14 positive regulation of mesenchymal cell proliferation GO:0002053 9.33 FBXW4 FGFR1 TP63
15 anatomical structure formation involved in morphogenesis GO:0048646 9.13 DLX5 GLI2 TP63
16 embryonic limb morphogenesis GO:0030326 8.92 DLX5 FBXW4 FGFR1 TP63

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

# Name GO ID Score Top Affiliating Genes
1 transcription regulatory region DNA binding GO:0044212 8.8 DLX5 GLI2 TP63

Sources for Split Hand-Foot Malformation

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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