SHFM3
MCID: SPL024
MIFTS: 44

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 57 72 70
Split Hand-Foot Malformation 3 12 29 6 15
Shfm3 57 12 72 54
Chromosome 10q24 Duplication Syndrome 57 12 72
Split-Hand/foot Malformation 3, Gene Duplication Syndrome 57 13
Limb Deficiencies, Distal, with Micrognathia 57 72
Shsf3 57 72
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 20
10q24 Microduplication Syndrome 58
Buttiens Fryns Syndrome 20
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®:

57 (Updated 05-Apr-2021)
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

GARD : 20 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).

MalaCards based summary : Split-Hand/foot Malformation 3, also known as split hand-foot malformation 3, is related to split-hand/foot malformation 1 and split hand-foot malformation. 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 eye, retina and heart, 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® : 57 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) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 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 23)
# Related Disease Score Top Affiliating Genes
1 split-hand/foot malformation 1 30.4 SEM1 DLX5
2 split hand-foot malformation 29.9 SHFM3 SEM1 FBXW4 DPCD DLX6 DLX5
3 isolated split hand-split foot malformation 29.4 SEM1 DLX6 DLX5 BTRC
4 split-hand/foot malformation 2 29.2 SEM1 FBXW4 DLX6 DLX5 BHLHA9
5 chromosome 2q35 duplication syndrome 29.2 SEM1 FBXW4 DLX6 DLX5 BHLHA9
6 split-hand/foot malformation 5 29.0 SEM1 FBXW4 DLX6 DLX5 BHLHA9
7 split-hand/foot malformation 4 28.4 SEM1 LBX1 FBXW4 DPCD DLX6 DLX5
8 split hand split foot malformation autosomal recessive 10.9
9 split hand/foot malformation x-linked 10.9
10 renal hypoplasia 10.2
11 orofacial cleft 4 9.9 SEM1 DLX6
12 cleft palate, isolated 9.9
13 nail disorder, nonsyndromic congenital, 9 9.9
14 tp63-related disorders 9.9
15 chromosomal triplication 9.9
16 brachydactyly, type a2 9.9 LBX1 FBXW4 DPCD
17 lacrimoauriculodentodigital syndrome 9.8 FBXW4 BHLHA9
18 orofacial cleft 8 9.8 DLX6 DLX5
19 agnathia-otocephaly complex 9.7 DLX6 DLX5
20 rapp-hodgkin syndrome 9.7 DLX6 DLX5
21 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 9.6 DLX6 DLX5 BHLHA9
22 split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive 9.3 SEM1 FBXW4 DLX6 DLX5 BHLHA9
23 split-hand/foot malformation 6 8.9 SEM1 LBX1 FBXW4 DPCD DLX6 DLX5

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 high palate 58 31 frequent (33%) Frequent (79-30%) HP:0000218
9 proteinuria 58 31 frequent (33%) Frequent (79-30%) HP:0000093
10 renal insufficiency 58 31 frequent (33%) Frequent (79-30%) HP:0000083
11 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
12 myopia 58 31 frequent (33%) Frequent (79-30%) HP:0000545
13 narrow mouth 58 31 frequent (33%) Frequent (79-30%) HP:0000160
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 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
22 abnormality of the ulna 58 31 occasional (7.5%) Occasional (29-5%) HP:0002997
23 sensorineural hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000407
24 short stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0004322
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®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 9.02 BHLHA9 DLX5 DLX6 FBXW4 LBX1

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
Eye, Retina, Heart

Publications for Split-Hand/foot Malformation 3

Articles related to Split-Hand/foot Malformation 3:

(show all 46)
# 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. 57 61
19584065 2010
2
Split-hand/split-foot malformation 3 (SHFM3) at 10q24, development of rapid diagnostic methods and gene expression from the region. 57 61
16691619 2006
3
Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non-syndromic split-hand/foot malformation. 61 57
16761290 2006
4
Genomic rearrangement at 10q24 in non-syndromic split-hand/split-foot malformation. 57 61
16235095 2005
5
Discrepancies in upper and lower limb patterning in split hand foot malformation. 57 61
16207208 2005
6
The 10q24-linked split hand/split foot syndrome (SHFM3): narrowing of the critical region and confirmation of the clinical phenotype. 57 61
14699611 2004
7
Split hand foot malformation is associated with a reduced level of Dactylin gene expression. 57 61
12974740 2003
8
A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24. 57 61
12913067 2003
9
A novel member of the F-box/WD40 gene family, encoding dactylin, is disrupted in the mouse dactylaplasia mutant. 57 61
10471509 1999
10
Fine mapping of the split-hand/split-foot locus (SHFM3) at 10q24: evidence for anticipation and segregation distortion. 57 61
10330351 1999
11
Refined mapping of a gene for split hand-split foot malformation (SHFM3) on chromosome 10q25. 57 61
9004130 1996
12
A split hand-split foot (SHFM3) gene is located at 10q24-->25. 57 61
8723077 1996
13
A second autosomal split hand/split foot locus maps to chromosome 10q24-q25. 57 61
8589697 1995
14
Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion. 57
22147889 2012
15
Genetically regulated epigenetic transcriptional activation of retrotransposon insertion confers mouse dactylaplasia phenotype. 57
17984064 2007
16
Genotype-phenotype correlations in mapped split hand foot malformation (SHFM) patients. 57
16688749 2006
17
Distal limb deficiencies, oral involvement, and renal defect: report of a third patient and confirmation of a distinct entity. 57
10861677 2000
18
Mapping the mouse dactylaplasia mutation, Dac, and a gene that controls its expression, mdac. 57
8666395 1995
19
Exclusion of linkage between autosomal dominant split hand/split foot and markers from chromosome 7q: further evidence for genetic heterogeneity. 57
7942863 1994
20
Evidence for locus heterogeneity in human autosomal dominant split hand/split foot malformation. 57
7912888 1994
21
Apparently new autosomal recessive syndrome of mental retardation, distal limb deficiencies, oral involvement, and possible renal defect. 57
3631136 1987
22
Dactylaplasia in mice a two-locus model for development anomalies. 57
7288137 1981
23
Characterization of mouse Dactylaplasia mutations: a model for human ectrodactyly SHFM3. 54 61
18392654 2008
24
[Genetic analysis of a Chinese pedigree with split hand and foot malformation]. 54 61
18067070 2007
25
A novel human gene encoding an F-box/WD40 containing protein maps in the SHFM3 critical region on 10q24. 54 61
10405324 1999
26
The prenatal diagnosis and genetic counseling of chromosomal micro-duplication on 10q24.3 in a fetus: A case report and a brief review of the literature. 61
33080687 2020
27
Duplication of 10q24 locus: broadening the clinical and radiological spectrum. 61
30622331 2019
28
Characterization of canonical Wnt signalling changes after induced disruption of Müller cell in murine retina. 61
29913166 2018
29
Prenatal limb defects: Epidemiologic characteristics and an epidemiologic analysis of risk factors. 61
30024522 2018
30
Microduplications of 10q24 Detected in Two Chinese Patients with Split-hand/foot Malformation Type 3. 61
29263051 2017
31
Molecular Genetic Characterization of a Chinese Family with Severe Split Hand/Foot Malformation. 61
28422522 2017
32
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
33
Split-hand/foot malformation - molecular cause and implications in genetic counseling. 61
24163146 2014
34
A rare complex malformation of the hand in split hand foot malformation type 3 (SHFM3). 61
23722700 2013
35
Discontinuous microduplications at chromosome 10q24.31 identified in a Chinese family with split hand and foot malformation. 61
23596994 2013
36
Complex genetics of radial ray deficiencies: screening of a cohort of 54 patients. 61
22995989 2013
37
A novel homozygous missense mutation in WNT10B in familial split-hand/foot malformation. 61
21554266 2012
38
Somatic/gonadal mosaicism in a syndromic form of ectrodactyly, including eye abnormalities, documented through array-based comparative genomic hybridization. 61
21485001 2011
39
The association of split hand foot malformation (SHFM) and congenital heart defects. 61
18383509 2008
40
Triphalangeal thumb in association with split hand/foot: a phenotypic marker for SHFM3? 61
17120235 2007
41
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
42
[A DNA duplication at chromosome 10q24.3 is associated with split-hand split-foot malformation in a Chinese family]. 61
16681918 2006
43
Molecular genetic characterization of a Korean split hand/split foot malformation (SHFM). 61
15232212 2004
44
Association of ectrodactyly and distal phocomelia. 61
12416640 2002
45
Genomic organization and embryonic expression of Suppressor of Fused, a candidate gene for the split-hand/split-foot malformation type 3. 61
11557033 2001
46
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 Position
1 overlap with 11 genes GRCh37/hg19 10q24.31-24.32(chr10:102822575-103558868) copy number gain Pathogenic 625658 GRCh37: 10:102822575-103558868
GRCh38:
2 FBXW4 NM_022039.4(FBXW4):c.1170G>T (p.Gly390=) SNV Uncertain significance 877573 GRCh37: 10:103427708-103427708
GRCh38: 10:101667951-101667951
3 FBXW4 NM_022039.4(FBXW4):c.726-12G>T SNV Uncertain significance 298537 rs755969920 GRCh37: 10:103436205-103436205
GRCh38: 10:101676448-101676448
4 FBXW4 NM_022039.4(FBXW4):c.715G>A (p.Gly239Ser) SNV Uncertain significance 878594 GRCh37: 10:103454148-103454148
GRCh38: 10:101694391-101694391
5 FBXW4 NM_022039.4(FBXW4):c.507G>A (p.Ala169=) SNV Uncertain significance 878595 GRCh37: 10:103454356-103454356
GRCh38: 10:101694599-101694599
6 FBXW4 NM_022039.4(FBXW4):c.*600G>A SNV Uncertain significance 879142 GRCh37: 10:103370448-103370448
GRCh38: 10:101610691-101610691
7 FBXW4 NM_022039.4(FBXW4):c.*381C>G SNV Uncertain significance 879143 GRCh37: 10:103370667-103370667
GRCh38: 10:101610910-101610910
8 FBXW4 NM_022039.4(FBXW4):c.493G>A (p.Glu165Lys) SNV Uncertain significance 298541 rs886046643 GRCh37: 10:103454370-103454370
GRCh38: 10:101694613-101694613
9 FBXW4 NM_022039.4(FBXW4):c.192G>A (p.Thr64=) SNV Uncertain significance 298548 rs886046647 GRCh37: 10:103454671-103454671
GRCh38: 10:101694914-101694914
10 FBXW4 NM_022039.4(FBXW4):c.1473C>T (p.His491=) SNV Uncertain significance 298529 rs147424741 GRCh37: 10:103371496-103371496
GRCh38: 10:101611739-101611739
11 FBXW4 NM_022039.4(FBXW4):c.1302-9C>T SNV Uncertain significance 298532 rs771930157 GRCh37: 10:103372243-103372243
GRCh38: 10:101612486-101612486
12 FBXW4 NM_022039.4(FBXW4):c.1465G>A (p.Glu489Lys) SNV Uncertain significance 298530 rs770518721 GRCh37: 10:103371504-103371504
GRCh38: 10:101611747-101611747
13 FBXW4 NM_022039.4(FBXW4):c.710G>A (p.Arg237Gln) SNV Uncertain significance 298538 rs886046642 GRCh37: 10:103454153-103454153
GRCh38: 10:101694396-101694396
14 FBXW4 NM_022039.4(FBXW4):c.*606A>C SNV Uncertain significance 298522 rs886046641 GRCh37: 10:103370442-103370442
GRCh38: 10:101610685-101610685
15 FBXW4 NM_022039.4(FBXW4):c.1181A>G (p.His394Arg) SNV Uncertain significance 298535 rs151048089 GRCh37: 10:103427697-103427697
GRCh38: 10:101667940-101667940
16 FBXW4 NM_022039.4(FBXW4):c.1657G>A (p.Ala553Thr) SNV Uncertain significance 298528 rs200476624 GRCh37: 10:103371095-103371095
GRCh38: 10:101611338-101611338
17 FBXW4 NM_022039.4(FBXW4):c.437G>A (p.Trp146Ter) SNV Uncertain significance 298543 rs886046644 GRCh37: 10:103454426-103454426
GRCh38: 10:101694669-101694669
18 FBXW4 NM_022039.4(FBXW4):c.409A>G (p.Arg137Gly) SNV Uncertain significance 298544 rs886046645 GRCh37: 10:103454454-103454454
GRCh38: 10:101694697-101694697
19 FBXW4 NM_022039.4(FBXW4):c.923G>A (p.Arg308His) SNV Uncertain significance 298536 rs771654851 GRCh37: 10:103433329-103433329
GRCh38: 10:101673572-101673572
20 FBXW4 NM_022039.4(FBXW4):c.316G>T (p.Ala106Ser) SNV Uncertain significance 879193 GRCh37: 10:103454547-103454547
GRCh38: 10:101694790-101694790
21 FBXW4 NM_022039.4(FBXW4):c.1549C>T (p.Arg517Trp) SNV Uncertain significance 880346 GRCh37: 10:103371420-103371420
GRCh38: 10:101611663-101611663
22 FBXW4 NM_022039.4(FBXW4):c.*3G>A SNV Likely benign 880345 GRCh37: 10:103371045-103371045
GRCh38: 10:101611288-101611288
23 FBXW4 NM_022039.4(FBXW4):c.822-11C>T SNV Likely benign 877575 GRCh37: 10:103433441-103433441
GRCh38: 10:101673684-101673684
24 FBXW4 NM_022039.4(FBXW4):c.755T>C (p.Val252Ala) SNV Likely benign 877576 GRCh37: 10:103436164-103436164
GRCh38: 10:101676407-101676407
25 FBXW4 NM_022039.4(FBXW4):c.1254G>A (p.Thr418=) SNV Likely benign 298533 rs142870264 GRCh37: 10:103384549-103384549
GRCh38: 10:101624792-101624792
26 FBXW4 NM_022039.4(FBXW4):c.1437C>T (p.Ser479=) SNV Likely benign 298531 rs574963392 GRCh37: 10:103372099-103372099
GRCh38: 10:101612342-101612342
27 FBXW4 NM_022039.4(FBXW4):c.134C>T (p.Ala45Val) SNV Likely benign 298549 rs557225276 GRCh37: 10:103454729-103454729
GRCh38: 10:101694972-101694972
28 FBXW4 NM_022039.4(FBXW4):c.353G>A (p.Gly118Glu) SNV Likely benign 298546 rs532195262 GRCh37: 10:103454510-103454510
GRCh38: 10:101694753-101694753
29 FBXW4 NM_022039.4(FBXW4):c.1235+13T>G SNV Likely benign 298534 rs193073481 GRCh37: 10:103427630-103427630
GRCh38: 10:101667873-101667873
30 FBXW4 NM_022039.4(FBXW4):c.*453C>T SNV Likely benign 298523 rs570558261 GRCh37: 10:103370595-103370595
GRCh38: 10:101610838-101610838
31 FBXW4 NM_022039.4(FBXW4):c.*204G>A SNV Likely benign 879144 GRCh37: 10:103370844-103370844
GRCh38: 10:101611087-101611087
32 FBXW4 NM_022039.4(FBXW4):c.*233G>T SNV Likely benign 298526 rs535051082 GRCh37: 10:103370815-103370815
GRCh38: 10:101611058-101611058
33 FBXW4 NM_022039.4(FBXW4):c.1011T>C (p.Asp337=) SNV Benign 877574 GRCh37: 10:103432801-103432801
GRCh38: 10:101673044-101673044
34 FBXW4 NM_022039.4(FBXW4):c.534C>G (p.Ala178=) SNV Benign 193447 rs61761937 GRCh37: 10:103454329-103454329
GRCh38: 10:101694572-101694572
35 FBXW4 NM_022039.4(FBXW4):c.440C>A (p.Ala147Asp) SNV Benign 298542 rs117664315 GRCh37: 10:103454423-103454423
GRCh38: 10:101694666-101694666
36 FBXW4 NM_022039.4(FBXW4):c.1410T>C (p.Tyr470=) SNV Benign 281768 rs35614606 GRCh37: 10:103372126-103372126
GRCh38: 10:101612369-101612369
37 FBXW4 NM_022039.4(FBXW4):c.*7G>C SNV Benign 298527 rs73349895 GRCh37: 10:103371041-103371041
GRCh38: 10:101611284-101611284
38 FBXW4 NM_022039.4(FBXW4):c.472G>C (p.Ala158Pro) SNV Benign 193448 rs111600818 GRCh37: 10:103454391-103454391
GRCh38: 10:101694634-101694634
39 FBXW4 NM_022039.4(FBXW4):c.461T>A (p.Val154Glu) SNV Benign 193449 rs61382490 GRCh37: 10:103454402-103454402
GRCh38: 10:101694645-101694645
40 FBXW4 NM_022039.4(FBXW4):c.*259C>T SNV Benign 298525 rs80085258 GRCh37: 10:103370789-103370789
GRCh38: 10:101611032-101611032
41 FBXW4 NM_022039.4(FBXW4):c.216G>A (p.Gly72=) SNV Benign 298547 rs77990860 GRCh37: 10:103454647-103454647
GRCh38: 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 SCF ubiquitin ligase complex GO:0019005 8.62 FBXW4 BTRC

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.77 LBX1 FBXW4 DLX6 DLX5 BHLHA9
2 post-translational protein modification GO:0043687 9.63 SEM1 FBXW4 BTRC
3 protein polyubiquitination GO:0000209 9.58 SEM1 FBXW4 BTRC
4 regulation of mitotic cell cycle phase transition GO:1901990 9.54 SEM1 BTRC
5 epithelial cell differentiation GO:0030855 9.52 DLX6 DLX5
6 NIK/NF-kappaB signaling GO:0038061 9.51 SEM1 BTRC
7 roof of mouth development GO:0060021 9.49 DLX6 DLX5
8 positive regulation of epithelial cell proliferation GO:0050679 9.48 DLX6 DLX5
9 inner ear morphogenesis GO:0042472 9.43 DLX6 DLX5
10 head development GO:0060322 9.32 DLX6 DLX5
11 anatomical structure formation involved in morphogenesis GO:0048646 9.26 DLX6 DLX5
12 embryo development GO:0009790 9.16 DLX6 DLX5
13 SCF-dependent proteasomal ubiquitin-dependent protein catabolic process GO:0031146 9.13 SEM1 FBXW4 BTRC
14 embryonic limb morphogenesis GO:0030326 8.8 FBXW4 DLX6 DLX5

Sources for Split-Hand/foot Malformation 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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