SHFM3
MCID: SPL024
MIFTS: 45

Split-Hand/foot Malformation 3 (SHFM3)

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

Aliases & Classifications for Split-Hand/foot Malformation 3

MalaCards integrated aliases for Split-Hand/foot Malformation 3:

Name: Split-Hand/foot Malformation 3 56 73 71
Split Hand-Foot Malformation 3 12 29 6 15
Shfm3 56 12 73 54
Chromosome 10q24 Duplication Syndrome 56 12 73
Split-Hand/foot Malformation 3, Gene Duplication Syndrome 56 13
Limb Deficiencies, Distal, with Micrognathia 56 73
Shsf3 56 73
Split-Hand/foot Malformation, Type 3, Gene Duplication Syndrome 39
Distal Limb Deficiencies-Micrognathia Syndrome 58
Distal Limb Deficiencies with Micrognathia 12
Limb Deficiencies Distal with Micrognathia 52
10q24 Microduplication Syndrome 58
Buttiens Fryns Syndrome 52
Buttiens-Fryns Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
distal limb deficiencies-micrognathia syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
preaxial involvement in approximately 60% of patients
contiguous gene duplication syndrome
linked to 10q24 trisomy


HPO:

31
split-hand/foot malformation 3:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


Summaries for Split-Hand/foot Malformation 3

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1307 Definition The distal limb deficiencies-micrognathia syndrome is characterized by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate . Epidemiology It has been reported in four patients; two of them were siblings and had moderate intellectual deficiency. Clinical description Two non-related subjects also had severe myopia, bilateral conductive hearing loss and a renal change, referred to as oligomeganephronia, or renal hypoplasia. Etiology Using high resolution oligoarray-based comparative genomic hybridization (aCGH), a 10q24 duplication or triplication was recently detected in all these patients, similar to the duplication detected in an isolated form of split hand foot malformation (SHFM; see this term). Visit the Orphanet disease page for more resources.

MalaCards based summary : Split-Hand/foot Malformation 3, also known as split hand-foot malformation 3, is related to split hand-foot malformation and split-hand/foot malformation 1. An important gene associated with Split-Hand/foot Malformation 3 is SHFM3 (Split-Hand/Foot Malformation 3), and among its related pathways/superpathways is MECP2 and Associated Rett Syndrome. Affiliated tissues include bone, eye and retina, and related phenotypes are hypoplasia of the maxilla and low-set, posteriorly rotated ears

Disease Ontology : 12 A split-hand/foot malformation that has material basis in a contiguous gene duplication syndrome on chromosome 10q24.

OMIM : 56 Split-hand/split-foot malformation is a limb malformation involving 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 with SHFM3 have been found to have mental retardation, ectodermal and craniofacial findings, and orofacial clefting (Elliott and Evans, 2006). For additional phenotypic information and a discussion of genetic heterogeneity in this disorder, see SHFM1 (183600). (246560)

UniProtKB/Swiss-Prot : 73 Split-hand/foot malformation 3: A limb malformation involving 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 have been found to have mental retardation, ectodermal and craniofacial findings, and orofacial clefting.

Related Diseases for Split-Hand/foot Malformation 3

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 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 24)
# Related Disease Score Top Affiliating Genes
1 split hand-foot malformation 30.7 TP63 SHFM3 SEM1 FBXW4 DLX6 DLX5
2 split-hand/foot malformation 1 30.7 TP63 DLX5
3 split-hand/foot malformation 2 29.1 TP63 SEM1 FBXW4 DLX6 DLX5
4 cleft palate, isolated 28.8 TP63 DLX6 DLX5
5 isolated split hand-split foot malformation 28.6 TP63 SEM1 DLX6 DLX5 BTRC
6 chromosome 2q35 duplication syndrome 28.5 TP63 SEM1 FBXW4 DLX6 DLX5 BHLHA9
7 split-hand/foot malformation 5 28.4 TP63 SEM1 FBXW4 DLX6 DLX5 BHLHA9
8 split-hand/foot malformation 4 28.0 TP63 SEM1 FBXW4 DPCD DLX6 DLX5
9 split hand split foot malformation autosomal recessive 11.2
10 split hand/foot malformation x-linked 11.2
11 renal hypoplasia 10.2
12 nail disorder, nonsyndromic congenital, 9 10.1
13 tp63-related disorders 10.1
14 chromosomal triplication 10.1
15 ankyloblepharon-ectodermal defects-cleft lip/palate 9.7 TP63 DLX5
16 brachydactyly, type a2 9.7 LBX1 FBXW4 DPCD
17 agnathia-otocephaly complex 9.6 DLX6 DLX5
18 orofacial cleft 4 9.5 TP63 SEM1 DLX6
19 orofacial cleft 9.4 TP63 DLX6 DLX5
20 orofacial cleft 8 9.4 TP63 DLX6 DLX5
21 rapp-hodgkin syndrome 9.4 TP63 DLX6 DLX5
22 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 9.0 TP63 DLX6 DLX5 BHLHA9
23 split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive 8.6 TP63 SEM1 FBXW4 DLX6 DLX5 BHLHA9
24 split-hand/foot malformation 6 8.0 TP63 SEM1 LBX1 FBXW4 DPCD DLX6

Graphical network of the top 20 diseases related to Split-Hand/foot Malformation 3:



Diseases related to Split-Hand/foot Malformation 3

Symptoms & Phenotypes for Split-Hand/foot Malformation 3

Human phenotypes related to Split-Hand/foot Malformation 3:

58 31 (show all 36)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypoplasia of the maxilla 58 31 occasional (7.5%) Very frequent (99-80%) HP:0000327
2 low-set, posteriorly rotated ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000368
3 abnormality of the ankles 58 31 hallmark (90%) Very frequent (99-80%) HP:0003028
4 microretrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000308
5 abnormality of the metacarpal bones 58 31 hallmark (90%) Very frequent (99-80%) HP:0001163
6 oligodactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0012165
7 abnormality of chromosome segregation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002916
8 proteinuria 58 31 frequent (33%) Frequent (79-30%) HP:0000093
9 renal insufficiency 58 31 frequent (33%) Frequent (79-30%) HP:0000083
10 narrow mouth 58 31 frequent (33%) Frequent (79-30%) HP:0000160
11 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
12 high palate 58 31 frequent (33%) Frequent (79-30%) HP:0000218
13 myopia 58 31 frequent (33%) Frequent (79-30%) HP:0000545
14 conductive hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000405
15 intellectual disability, moderate 58 31 frequent (33%) Frequent (79-30%) HP:0002342
16 renal hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0000089
17 aplasia/hypoplasia of the thumb 58 31 frequent (33%) Frequent (79-30%) HP:0009601
18 aplasia/hypoplasia of the radius 58 31 frequent (33%) Frequent (79-30%) HP:0006501
19 abnormality of the wrist 58 31 frequent (33%) Frequent (79-30%) HP:0003019
20 macrocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000256
21 abnormality of the ulna 58 31 occasional (7.5%) Occasional (29-5%) HP:0002997
22 sensorineural hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000407
23 short stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0004322
24 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
25 microdontia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000691
26 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
27 prominent nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0000426
28 tarsal synostosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0008368
29 microglossia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000171
30 split foot 58 31 occasional (7.5%) Occasional (29-5%) HP:0001839
31 intellectual disability 31 HP:0001249
32 split hand 31 HP:0001171
33 ridged nail 31 HP:0001807
34 nail dystrophy 31 HP:0008404
35 camptodactyly 31 HP:0012385
36 abnormality of the pinna 31 HP:0000377

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Mouth:
cleft palate
high-arched palate

Genitourinary Kidneys:
renal hypoplasia

Head And Neck Ears:
dysplastic ears
hearing loss, conductive or mixed

Skin Nails Hair Nails:
dystrophic nails
ridged nails

Skeletal Hands:
split hand
ectrodactyly
camptodactyly

Skeletal Feet:
ectrodactyly
split feet

Neurologic Central Nervous System:
mental retardation (in some patients)

Head And Neck Face:
micrognathia (in some patients)
maxillary hypoplasia (in some patients)

Clinical features from OMIM:

246560

MGI Mouse Phenotypes related to Split-Hand/foot Malformation 3:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 9.43 BHLHA9 DLX5 DLX6 FBXW4 LBX1 TP63
2 skeleton MP:0005390 9.1 BTRC DLX5 DLX6 DPCD FBXW4 TP63

Drugs & Therapeutics for Split-Hand/foot Malformation 3

Search Clinical Trials , NIH Clinical Center for Split-Hand/foot Malformation 3

Genetic Tests for Split-Hand/foot Malformation 3

Genetic tests related to Split-Hand/foot Malformation 3:

# Genetic test Affiliating Genes
1 Split Hand-Foot Malformation 3 29

Anatomical Context for Split-Hand/foot Malformation 3

MalaCards organs/tissues related to Split-Hand/foot Malformation 3:

40
Bone, Eye, Retina, Heart

Publications for Split-Hand/foot Malformation 3

Articles related to Split-Hand/foot Malformation 3:

(show all 45)
# Title Authors PMID Year
1
Distal limb deficiencies, micrognathia syndrome, and syndromic forms of split hand foot malformation (SHFM) are caused by chromosome 10q genomic rearrangements. 56 61
19584065 2010
2
Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non-syndromic split-hand/foot malformation. 56 61
16761290 2006
3
Split-hand/split-foot malformation 3 (SHFM3) at 10q24, development of rapid diagnostic methods and gene expression from the region. 61 56
16691619 2006
4
Genomic rearrangement at 10q24 in non-syndromic split-hand/split-foot malformation. 56 61
16235095 2005
5
Discrepancies in upper and lower limb patterning in split hand foot malformation. 61 56
16207208 2005
6
The 10q24-linked split hand/split foot syndrome (SHFM3): narrowing of the critical region and confirmation of the clinical phenotype. 61 56
14699611 2004
7
Split hand foot malformation is associated with a reduced level of Dactylin gene expression. 56 61
12974740 2003
8
A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24. 61 56
12913067 2003
9
A novel member of the F-box/WD40 gene family, encoding dactylin, is disrupted in the mouse dactylaplasia mutant. 56 61
10471509 1999
10
Fine mapping of the split-hand/split-foot locus (SHFM3) at 10q24: evidence for anticipation and segregation distortion. 61 56
10330351 1999
11
Refined mapping of a gene for split hand-split foot malformation (SHFM3) on chromosome 10q25. 56 61
9004130 1996
12
A split hand-split foot (SHFM3) gene is located at 10q24-->25. 56 61
8723077 1996
13
A second autosomal split hand/split foot locus maps to chromosome 10q24-q25. 61 56
8589697 1995
14
Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion. 56
22147889 2012
15
Genetically regulated epigenetic transcriptional activation of retrotransposon insertion confers mouse dactylaplasia phenotype. 56
17984064 2007
16
Genotype-phenotype correlations in mapped split hand foot malformation (SHFM) patients. 56
16688749 2006
17
Distal limb deficiencies, oral involvement, and renal defect: report of a third patient and confirmation of a distinct entity. 56
10861677 2000
18
Mapping the mouse dactylaplasia mutation, Dac, and a gene that controls its expression, mdac. 56
8666395 1995
19
Exclusion of linkage between autosomal dominant split hand/split foot and markers from chromosome 7q: further evidence for genetic heterogeneity. 56
7942863 1994
20
Evidence for locus heterogeneity in human autosomal dominant split hand/split foot malformation. 56
7912888 1994
21
Apparently new autosomal recessive syndrome of mental retardation, distal limb deficiencies, oral involvement, and possible renal defect. 56
3631136 1987
22
Dactylaplasia in mice a two-locus model for development anomalies. 56
7288137 1981
23
Characterization of mouse Dactylaplasia mutations: a model for human ectrodactyly SHFM3. 61 54
18392654 2008
24
[Genetic analysis of a Chinese pedigree with split hand and foot malformation]. 61 54
18067070 2007
25
A novel human gene encoding an F-box/WD40 containing protein maps in the SHFM3 critical region on 10q24. 61 54
10405324 1999
26
Duplication of 10q24 locus: broadening the clinical and radiological spectrum. 61
30622331 2019
27
Characterization of canonical Wnt signalling changes after induced disruption of Müller cell in murine retina. 61
29913166 2018
28
Prenatal limb defects: Epidemiologic characteristics and an epidemiologic analysis of risk factors. 61
30024522 2018
29
Microduplications of 10q24 Detected in Two Chinese Patients with Split-hand/foot Malformation Type 3. 61
29263051 2017
30
Molecular Genetic Characterization of a Chinese Family with Severe Split Hand/Foot Malformation. 61
28422522 2017
31
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. 61
27600068 2015
32
Split-hand/foot malformation - molecular cause and implications in genetic counseling. 61
24163146 2014
33
A rare complex malformation of the hand in split hand foot malformation type 3 (SHFM3). 61
23722700 2013
34
Discontinuous microduplications at chromosome 10q24.31 identified in a Chinese family with split hand and foot malformation. 61
23596994 2013
35
Complex genetics of radial ray deficiencies: screening of a cohort of 54 patients. 61
22995989 2013
36
A novel homozygous missense mutation in WNT10B in familial split-hand/foot malformation. 61
21554266 2012
37
Somatic/gonadal mosaicism in a syndromic form of ectrodactyly, including eye abnormalities, documented through array-based comparative genomic hybridization. 61
21485001 2011
38
The association of split hand foot malformation (SHFM) and congenital heart defects. 61
18383509 2008
39
Triphalangeal thumb in association with split hand/foot: a phenotypic marker for SHFM3? 61
17120235 2007
40
Ectrodactyly with aplasia of long bones (OMIM; 119100) in a large inbred Arab family with an apparent autosomal dominant inheritance and reduced penetrance: clinical and genetic analysis. 61
16688753 2006
41
[A DNA duplication at chromosome 10q24.3 is associated with split-hand split-foot malformation in a Chinese family]. 61
16681918 2006
42
Molecular genetic characterization of a Korean split hand/split foot malformation (SHFM). 61
15232212 2004
43
Association of ectrodactyly and distal phocomelia. 61
12416640 2002
44
Genomic organization and embryonic expression of Suppressor of Fused, a candidate gene for the split-hand/split-foot malformation type 3. 61
11557033 2001
45
Wolf-Hirschhorn syndrome and a split-hand malformation. 61
9482640 1998

Variations for Split-Hand/foot Malformation 3

ClinVar genetic disease variations for Split-Hand/foot Malformation 3:

6 (show all 41) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 covers 11 genes, none of which curated to show dosage sensitivity GRCh37/hg19 10q24.31-24.32(chr10:102822575-103558868)copy number gain Pathogenic 625658 10:102822575-103558868
2 FBXW4 NM_022039.4(FBXW4):c.*600G>ASNV Uncertain significance 879142 10:103370448-103370448 10:101610691-101610691
3 FBXW4 NM_022039.4(FBXW4):c.*381C>GSNV Uncertain significance 879143 10:103370667-103370667 10:101610910-101610910
4 FBXW4 NM_022039.4(FBXW4):c.1549C>T (p.Arg517Trp)SNV Uncertain significance 880346 10:103371420-103371420 10:101611663-101611663
5 FBXW4 NM_022039.4(FBXW4):c.1170G>T (p.Gly390=)SNV Uncertain significance 877573 10:103427708-103427708 10:101667951-101667951
6 FBXW4 NM_022039.4(FBXW4):c.715G>A (p.Gly239Ser)SNV Uncertain significance 878594 10:103454148-103454148 10:101694391-101694391
7 FBXW4 NM_022039.4(FBXW4):c.507G>A (p.Ala169=)SNV Uncertain significance 878595 10:103454356-103454356 10:101694599-101694599
8 FBXW4 NM_022039.4(FBXW4):c.316G>T (p.Ala106Ser)SNV Uncertain significance 879193 10:103454547-103454547 10:101694790-101694790
9 FBXW4 NM_022039.4(FBXW4):c.1302-9C>TSNV Uncertain significance 298532 rs771930157 10:103372243-103372243 10:101612486-101612486
10 FBXW4 NM_022039.4(FBXW4):c.923G>A (p.Arg308His)SNV Uncertain significance 298536 rs771654851 10:103433329-103433329 10:101673572-101673572
11 FBXW4 NM_022039.4(FBXW4):c.710G>A (p.Arg237Gln)SNV Uncertain significance 298538 rs886046642 10:103454153-103454153 10:101694396-101694396
12 FBXW4 NM_022039.4(FBXW4):c.1657G>A (p.Ala553Thr)SNV Uncertain significance 298528 rs200476624 10:103371095-103371095 10:101611338-101611338
13 FBXW4 NM_022039.4(FBXW4):c.192G>A (p.Thr64=)SNV Uncertain significance 298548 rs886046647 10:103454671-103454671 10:101694914-101694914
14 FBXW4 NM_022039.4(FBXW4):c.1181A>G (p.His394Arg)SNV Uncertain significance 298535 rs151048089 10:103427697-103427697 10:101667940-101667940
15 FBXW4 NM_022039.4(FBXW4):c.*606A>CSNV Uncertain significance 298522 rs886046641 10:103370442-103370442 10:101610685-101610685
16 FBXW4 NM_022039.4(FBXW4):c.1473C>T (p.His491=)SNV Uncertain significance 298529 rs147424741 10:103371496-103371496 10:101611739-101611739
17 FBXW4 NM_022039.4(FBXW4):c.1465G>A (p.Glu489Lys)SNV Uncertain significance 298530 rs770518721 10:103371504-103371504 10:101611747-101611747
18 FBXW4 NM_022039.4(FBXW4):c.726-12G>TSNV Uncertain significance 298537 rs755969920 10:103436205-103436205 10:101676448-101676448
19 FBXW4 NM_022039.4(FBXW4):c.493G>A (p.Glu165Lys)SNV Uncertain significance 298541 rs886046643 10:103454370-103454370 10:101694613-101694613
20 FBXW4 NM_022039.4(FBXW4):c.437G>A (p.Trp146Ter)SNV Uncertain significance 298543 rs886046644 10:103454426-103454426 10:101694669-101694669
21 FBXW4 NM_022039.4(FBXW4):c.409A>G (p.Arg137Gly)SNV Uncertain significance 298544 rs886046645 10:103454454-103454454 10:101694697-101694697
22 FBXW4 NM_022039.4(FBXW4):c.353G>A (p.Gly118Glu)SNV Likely benign 298546 rs532195262 10:103454510-103454510 10:101694753-101694753
23 FBXW4 NM_022039.4(FBXW4):c.1437C>T (p.Ser479=)SNV Likely benign 298531 rs574963392 10:103372099-103372099 10:101612342-101612342
24 FBXW4 NM_022039.4(FBXW4):c.755T>C (p.Val252Ala)SNV Likely benign 877576 10:103436164-103436164 10:101676407-101676407
25 FBXW4 NM_022039.4(FBXW4):c.*233G>TSNV Likely benign 298526 rs535051082 10:103370815-103370815 10:101611058-101611058
26 FBXW4 NM_022039.4(FBXW4):c.1254G>A (p.Thr418=)SNV Likely benign 298533 rs142870264 10:103384549-103384549 10:101624792-101624792
27 FBXW4 NM_022039.4(FBXW4):c.1235+13T>GSNV Likely benign 298534 rs193073481 10:103427630-103427630 10:101667873-101667873
28 FBXW4 NM_022039.4(FBXW4):c.134C>T (p.Ala45Val)SNV Likely benign 298549 rs557225276 10:103454729-103454729 10:101694972-101694972
29 FBXW4 NM_022039.4(FBXW4):c.822-11C>TSNV Likely benign 877575 10:103433441-103433441 10:101673684-101673684
30 FBXW4 NM_022039.4(FBXW4):c.*453C>TSNV Likely benign 298523 rs570558261 10:103370595-103370595 10:101610838-101610838
31 FBXW4 NM_022039.4(FBXW4):c.*204G>ASNV Likely benign 879144 10:103370844-103370844 10:101611087-101611087
32 FBXW4 NM_022039.4(FBXW4):c.*3G>ASNV Likely benign 880345 10:103371045-103371045 10:101611288-101611288
33 FBXW4 NM_022039.4(FBXW4):c.*259C>TSNV Benign 298525 rs80085258 10:103370789-103370789 10:101611032-101611032
34 FBXW4 NM_022039.4(FBXW4):c.1011T>C (p.Asp337=)SNV Benign 877574 10:103432801-103432801 10:101673044-101673044
35 FBXW4 NM_022039.4(FBXW4):c.534C>G (p.Ala178=)SNV Benign 193447 rs61761937 10:103454329-103454329 10:101694572-101694572
36 FBXW4 NM_022039.4(FBXW4):c.472G>C (p.Ala158Pro)SNV Benign 193448 rs111600818 10:103454391-103454391 10:101694634-101694634
37 FBXW4 NM_022039.4(FBXW4):c.461T>A (p.Val154Glu)SNV Benign 193449 rs61382490 10:103454402-103454402 10:101694645-101694645
38 FBXW4 NM_022039.4(FBXW4):c.1410T>C (p.Tyr470=)SNV Benign 281768 rs35614606 10:103372126-103372126 10:101612369-101612369
39 FBXW4 NM_022039.4(FBXW4):c.*7G>CSNV Benign 298527 rs73349895 10:103371041-103371041 10:101611284-101611284
40 FBXW4 NM_022039.4(FBXW4):c.440C>A (p.Ala147Asp)SNV Benign 298542 rs117664315 10:103454423-103454423 10:101694666-101694666
41 FBXW4 NM_022039.4(FBXW4):c.216G>A (p.Gly72=)SNV Benign 298547 rs77990860 10:103454647-103454647 10:101694890-101694890

Expression for Split-Hand/foot Malformation 3

Search GEO for disease gene expression data for Split-Hand/foot Malformation 3.

Pathways for Split-Hand/foot Malformation 3

Pathways related to Split-Hand/foot Malformation 3 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.42 DLX6 DLX5

GO Terms for Split-Hand/foot Malformation 3

Cellular components related to Split-Hand/foot Malformation 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear chromatin GO:0000790 9.02 TP63 LBX1 DLX6 DLX5 BHLHA9
2 SCF ubiquitin ligase complex GO:0019005 8.96 FBXW4 BTRC

Biological processes related to Split-Hand/foot Malformation 3 according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 9.86 TP63 LBX1 DLX6 DLX5
2 post-translational protein modification GO:0043687 9.67 SEM1 FBXW4 BTRC
3 protein polyubiquitination GO:0000209 9.65 SEM1 FBXW4 BTRC
4 multicellular organism development GO:0007275 9.63 TP63 LBX1 FBXW4 DLX6 DLX5 BHLHA9
5 skeletal system development GO:0001501 9.61 TP63 DLX6 DLX5
6 NIK/NF-kappaB signaling GO:0038061 9.55 SEM1 BTRC
7 roof of mouth development GO:0060021 9.54 DLX6 DLX5
8 inner ear morphogenesis GO:0042472 9.52 DLX6 DLX5
9 positive regulation of epithelial cell proliferation GO:0050679 9.51 DLX6 DLX5
10 SCF-dependent proteasomal ubiquitin-dependent protein catabolic process GO:0031146 9.5 SEM1 FBXW4 BTRC
11 developmental process GO:0032502 9.46 TP63 BHLHA9
12 epithelial cell differentiation GO:0030855 9.43 TP63 DLX6 DLX5
13 head development GO:0060322 9.4 DLX6 DLX5
14 embryo development GO:0009790 9.37 DLX6 DLX5
15 anatomical structure formation involved in morphogenesis GO:0048646 9.13 TP63 DLX6 DLX5
16 embryonic limb morphogenesis GO:0030326 8.92 TP63 FBXW4 DLX6 DLX5

Molecular functions related to Split-Hand/foot Malformation 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity GO:0003700 9.46 TP63 LBX1 DLX6 DLX5
2 sequence-specific DNA binding GO:0043565 9.26 TP63 LBX1 DLX6 DLX5
3 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.02 TP63 LBX1 DLX6 DLX5 BHLHA9

Sources for Split-Hand/foot Malformation 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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