SHFM1
MCID: SPL067
MIFTS: 49

Split-Hand/foot Malformation 1 (SHFM1)

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

Aliases & Classifications for Split-Hand/foot Malformation 1

MalaCards integrated aliases for Split-Hand/foot Malformation 1:

Name: Split-Hand/foot Malformation 1 57 29 6
Ectrodactyly 57 75 55 6 72
Shfm1 57 12 53
Shfd1 57 12 53
Split Hand/foot Malformation 1 57 13
Split Hand-Foot Malformation 1 12 15
Split Hand Foot Deformity 1 53 72
Split-Hand Deformity 57 75
Split-Hand/foot Malformation 1 with or Without Deafness 57
Split-Hand/foot Deformity 1; Shfd1; Shsf1 57
Split Hand Foot Malformation 1 53
Split-Hand/foot Malformation 72
Split-Hand/foot Deformity 1 57
Split Hand Malformation1 53
Split Hand Deformity 1 53
Ectrodactyly; Ecd 57
Ecd 57

Characteristics:

OMIM:

57
Miscellaneous:
variable expressivity
incomplete penetrance
contiguous gene syndrome caused by deletion, duplication, or rearrangement of chromosome 7q21.3 involving the dss1 (), dlx5 (), and dlx6 () genes and possible regulatory elements in the region
one family reported with mutation in a heterozygous mutation in dlx5 (last curated october 2014)

Inheritance:
autosomal dominant


HPO:

32
split-hand/foot malformation 1:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity incomplete penetrance


Classifications:



External Ids:

Disease Ontology 12 DOID:0090021
ICD10 33 Q71.6
MedGen 42 C2931019
UMLS 72 C0265554 C2699510 C2931019

Summaries for Split-Hand/foot Malformation 1

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 1, also known as ectrodactyly, is related to split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive and split-hand/foot malformation 6. An important gene associated with Split-Hand/foot Malformation 1 is SEM1 (SEM1 26S Proteasome Complex Subunit). Affiliated tissues include bone, heart and skin, and related phenotypes are split hand and split foot

Disease Ontology : 12 A split-hand/foot malformation that has material basis in contiguous gene mutations caused by deletion, duplication, or rearrangement of chromosome 7q21.3 involving the DSS1, DLX5, and DLX6 genes and possible regulatory elements in the region.

OMIM : 57 Split-hand/foot malformation (SHFM) 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 SHFM1 have been found to have mental retardation, ectodermal and craniofacial findings, orofacial clefting (Elliott and Evans, 2006), and neurosensory hearing loss (Tackels-Horne et al., 2001). (183600)

Wikipedia : 75 Ectrodactyly, split hand, cleft hand, derived from the Greek ektroma (abortion) and daktylos (finger)... more...

Related Diseases for Split-Hand/foot Malformation 1

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

(show top 50) (show all 374)
# Related Disease Score Top Affiliating Genes
1 split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive 34.5 SEM1 DLX5
2 split-hand/foot malformation 6 31.6 TP63 SEM1 DLX5
3 split-hand/foot malformation 4 31.4 TP63 SEM1 DLX5
4 split-hand/foot malformation 2 31.2 TP63 SHFM2 SEM1 DLX5
5 split-hand/foot malformation 5 31.2 TP63 SHFM5 SEM1 DLX5
6 isolated split hand-split foot malformation 30.5 TP63 SEM1 DLX5
7 rapp-hodgkin syndrome 29.9 TP63 SEM1 DLX5
8 paranoid personality disorder 29.9 SEM1 DLX5
9 split hand-foot malformation 29.8 TP63 SEM1 MAP3K20 DLX5
10 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 12.7
11 ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome 12.7
12 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 12.6
13 cleft palate, cardiac defect, genital anomalies, and ectrodactyly 12.6
14 fibular aplasia ectrodactyly 12.5
15 brachydactyly-ectrodactyly with fibular aplasia or hypoplasia 12.5
16 femur bifid with monodactylous ectrodactyly 12.5
17 ectrodactyly and ectodermal dysplasia without cleft lip/palate 12.5
18 intellectual disability-spasticity-ectrodactyly syndrome 12.4
19 erdheim-chester disease 12.3
20 ectrodactyly-polydactyly 12.3
21 hartsfield syndrome 12.3
22 femur, unilateral bifid, with monodactylous ectrodactyly 12.3
23 anonychia-ectrodactyly 12.3
24 anonychia-onychodystrophy with brachydactyly type b and ectrodactyly 12.3
25 ectrodactyly cardiopathy dysmorphism 12.3
26 ectrodactyly-cleft palate syndrome 12.3
27 tibial aplasia-ectrodactyly syndrome 12.3
28 holoprosencephaly ectrodactyly cleft lip palate 12.2
29 ectrodactyly of lower limbs, congenital heart defect, and micrognathia 12.2
30 microphthalmia, syndromic 8 12.1
31 phocomelia-ectrodactyly, ear malformation, deafness, and sinus arrhythmia 12.1
32 phocomelia ectrodactyly deafness sinus arrhythmia 12.1
33 obsolete: blepharoptosis-cleft palate-ectrodactyly-dental anomalies syndrome 12.1
34 ectrodactyly with and without other manifestations 12.1
35 adult syndrome 12.1
36 limb-mammary syndrome 12.0
37 atrioventricular septal defect 12.0
38 triphalangeal thumbs with brachyectrodactyly 12.0
39 split-foot deformity with mandibulofacial dysostosis 12.0
40 focal dermal hypoplasia 11.7
41 kasznica carlson coppedge syndrome 11.6
42 acrofacial dysostosis 1, nager type 11.6
43 hemifacial atrophy, progressive 11.6
44 limb defects, distal transverse, with mental retardation and spasticity 11.5
45 adams-oliver syndrome 1 11.4
46 jones hersh yusk syndrome 11.4
47 landy-donnai syndrome 11.4
48 saal bulas syndrome 11.4
49 split-hand with congenital nystagmus, fundal changes, and cataracts 11.2
50 split-hand/foot malformation 3 11.2

Graphical network of the top 20 diseases related to Split-Hand/foot Malformation 1:



Diseases related to Split-Hand/foot Malformation 1

Symptoms & Phenotypes for Split-Hand/foot Malformation 1

Human phenotypes related to Split-Hand/foot Malformation 1:

32 (show all 21)
# Description HPO Frequency HPO Source Accession
1 split hand 32 hallmark (90%) HP:0001171
2 split foot 32 hallmark (90%) HP:0001839
3 cleft palate 32 frequent (33%) HP:0000175
4 syndactyly 32 frequent (33%) HP:0001159
5 foot oligodactyly 32 frequent (33%) HP:0001849
6 hand oligodactyly 32 frequent (33%) HP:0001180
7 intellectual disability 32 very rare (1%) HP:0001249
8 hearing impairment 32 very rare (1%) HP:0000365
9 abnormality of the pinna 32 very rare (1%) HP:0000377
10 abnormality of cardiovascular system morphology 32 very rare (1%) HP:0030680
11 clinodactyly 32 HP:0030084
12 sensorineural hearing impairment 32 HP:0000407
13 abnormality of the genital system 32 HP:0000078
14 abnormality of the urinary system 32 HP:0000079
15 cutaneous finger syndactyly 32 HP:0010554
16 triphalangeal thumb 32 HP:0001199
17 median cleft lip 32 HP:0000161
18 ectrodactyly 32 HP:0100257
19 2-3 toe syndactyly 32 HP:0004691
20 lacrimal duct aplasia 32 HP:0007925
21 broad hallux 32 HP:0010055

Symptoms via clinical synopsis from OMIM:

57
Skeletal Feet:
clinodactyly
ectrodactyly
split foot
broad hallux

Skeletal Hands:
split hand
ectrodactyly
triphalangeal thumbs
aplasia of single digital ray
hypoplasia, fusion, and contractures of post-axial fingers

Clinical features from OMIM:

183600

Drugs & Therapeutics for Split-Hand/foot Malformation 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Ex Vivo and in Vitro Assessment of the Pharmacological Properties of Molecule Prima in the Restoration of Physiological Differentiation of Gene p63 Dependant Epithelium Recruiting NCT02896387

Search NIH Clinical Center for Split-Hand/foot Malformation 1

Genetic Tests for Split-Hand/foot Malformation 1

Genetic tests related to Split-Hand/foot Malformation 1:

# Genetic test Affiliating Genes
1 Split-Hand/foot Malformation 1 29

Anatomical Context for Split-Hand/foot Malformation 1

MalaCards organs/tissues related to Split-Hand/foot Malformation 1:

41
Bone, Heart, Skin, Tongue, Eye, Breast, T Cells

Publications for Split-Hand/foot Malformation 1

Articles related to Split-Hand/foot Malformation 1:

(show top 50) (show all 708)
# Title Authors PMID Year
1
Heterozygous DLX5 nonsense mutation associated with isolated split-hand/foot malformation with reduced penetrance and variable expressivity in two unrelated families. 38 8 71
25196357 2014
2
Exome sequencing reveals a heterozygous DLX5 mutation in a Chinese family with autosomal-dominant split-hand/foot malformation. 38 8 71
24496061 2014
3
Characterization of the complex 7q21.3 rearrangement in a patient with bilateral split-foot malformation and hearing loss. 38 8
19449426 2009
4
Complex rearrangement of chromosomes 7q21.13-q22.1 confirms the ectrodactyly-deafness locus and suggests new candidate genes. 38 8
18080328 2008
5
Genotype-phenotype correlations in mapped split hand foot malformation (SHFM) patients. 38 8
16688749 2006
6
Pathogenesis of split-hand/split-foot malformation. 38 8
12668597 2003
7
Mouse model of split hand/foot malformation type I. 38 8
12112878 2002
8
Mapping the mouse dactylaplasia mutation, Dac, and a gene that controls its expression, mdac. 38 8
8666395 1995
9
Ectrodactyly and proximal/intermediate interstitial deletion 7q. 38 8
7747769 1995
10
Split foot and developmental retardation associated with a deletion of three microsatellite markers in 7q21.2-q22.1. 38 8
7606850 1995
11
Physical mapping of the split hand/split foot locus on chromosome 7 and implication in syndromic ectrodactyly. 38 8
7987313 1994
12
Evidence for locus heterogeneity in human autosomal dominant split hand/split foot malformation. 38 8
7912888 1994
13
Inverted insertion of chromosome 7q and ectrodactyly. 38 8
8322806 1993
14
Ectrodactyly of hands and feet in a child with a complex translocation including 7q21.2. 38 8
1877619 1991
15
Ectro-amelia syndrome associated with an interstitial deletion of 7q. 38 8
2301476 1990
16
Interstitial long-arm deletion of chromosome 7 and ectrodactyly. 38 8
2929660 1989
17
The split-hand and split-foot anomaly in a central African Negro population. 38 8
6507501 1984
18
Monodactylous splithand-splitfoot. A malformation occurring in three distinct genetic types. 38 8
7389732 1980
19
Dominant ectrodactyly and possible germinal mosaicism. 38 8
5079103 1972
20
A recessive form of ectrodactyly, and its implications in genetic counseling. 38 8
5094721 1971
21
Ectrodactyly--evidence in favour of a disturbed segregation in the offspring of affected males. 38 8
13834546 1960
22
Two pedigrees of ectrodactyly. 38 8
24541402 1951
23
Absent expression of the osteoblast-specific maternally imprinted genes, DLX5 and DLX6, causes split hand/split foot malformation type I. 8
25332435 2014
24
A 0.7 Mb de novo duplication at 7q21.3 including the genes DLX5 and DLX6 in a patient with split-hand/split-foot malformation. 8
23169702 2012
25
Identification of a novel DLX5 mutation in a family with autosomal recessive split hand and foot malformation. 8
22121204 2012
26
Discrepancies in upper and lower limb patterning in split hand foot malformation. 8
16207208 2005
27
Refinement of the deletion in 7q21.3 associated with split hand/foot malformation type 1 and Mondini dysplasia. 8
15121782 2004
28
Split hand/split foot malformation associated with sensorineural deafness, inner and middle ear malformation, hypodontia, congenital vertical talus, and deletion of eight microsatellite markers in 7q21.1-q21.3. 8
11424924 2001
29
Further evidence for germinal mosaicism in cleft hand/cleft foot syndrome. Two affected halfsisters and normal father. 8
11693788 2001
30
Split hand/split foot malformation with hearing loss: first report of families linked to the SHFM1 locus in 7q21. 8
11168022 2001
31
Defect in the maintenance of the apical ectodermal ridge in the Dactylaplasia mouse. 8
9733575 1998
32
Bilateral split hand/foot malformation and inv(7)(p22q21.3). 8
7616545 1995
33
Non-Mendelian transmission in a human developmental disorder: split hand/split foot. 8
7942849 1994
34
On the inheritance of the split hand/split foot malformation. 8
7802032 1994
35
The genetics of human limb development. 8
7912883 1994
36
Fine mapping of the autosomal dominant split hand/split foot locus on chromosome 7, band q21.3-q22.1. 8
8023840 1994
37
Split hand/split foot anomaly in a family segregating a balanced translocation with breakpoint on 7q22.1. 8
8279479 1993
38
Human situs determination and chromosome constitution 46,XY,ins(7;8)(q22;q12q24) 8
8192752 1993
39
Bilateral split hand and split foot malformation in a boy with a de novo interstitial deletion of 7q21.3. 8
1895319 1991
40
Why is Mendelian segregation so exact? 8
1909864 1991
41
[Interstitial deletion of the long arm of chromosome 7 and its clinical correlations]. 8
6680429 1983
42
A problem for genetic counselling - split hand deformity. 8
891014 1977
43
Another case of split-foot mutation in two sibs. 8
4320415 1970
44
[Split hand and foot with familial occurrence]. 8
14479171 1962
45
[Delayed mutation in man; a critical observation on the work of Ch. Auerbachs (1956)]. 8
13509525 1958
46
A possible case of delayed mutation in man. 8
13314396 1956
47
Molecular basis of EEC (ectrodactyly, ectodermal dysplasia, clefting) syndrome: five new mutations in the DNA-binding domain of the TP63 gene and genotype-phenotype correlation. 9 38
19903181 2010
48
A 19-year follow-up of a patient with type 3 ectrodactyly-ectodermal dysplasia-clefting syndrome who developed non-Hodgkin lymphoma. 9 38
19716498 2009
49
A new mutation in TP63 is associated with age-related pathology. 9 38
17609671 2007
50
Further phenotypic and genetic variation in ADULT syndrome. 9 38
17041931 2006

Variations for Split-Hand/foot Malformation 1

ClinVar genetic disease variations for Split-Hand/foot Malformation 1:

6 (show top 50) (show all 105)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 subset of 67 genes:SGCE ; TRRAP GRCh37/hg19 7q21.2-22.1(chr7: 92445452-99686985)x1 copy number loss Pathogenic 7:92445452-99686985 :0-0
2 DLX5 NM_005221.6(DLX5): c.558G> T (p.Gln186His) single nucleotide variant Pathogenic rs398122527 7:96650360-96650360 7:97021048-97021048
3 MAP3K20 NM_016653.3(MAP3K20): c.1103T> G (p.Phe368Cys) single nucleotide variant Pathogenic rs863225437 2:174097087-174097087 2:173232359-173232359
4 DLX5 NM_005221.6(DLX5): c.115G> T (p.Glu39Ter) single nucleotide variant Pathogenic rs587777842 7:96653821-96653821 7:97024509-97024509
5 BTRC ; DPCD ; FBXW4 ; LBX1 ; POLL ; TLX1 ; TLX1NB duplication Pathogenic 10:102887490-103524625 :0-0
6 duplication Pathogenic
7 PLAA NM_001031689.3(PLAA): c.1487-1G> A single nucleotide variant Likely pathogenic 9:26913946-26913946 9:26913948-26913948
8 TP63 NM_003722.5(TP63): c.*2205A> G single nucleotide variant Uncertain significance rs886058238 3:189614496-189614496 3:189896707-189896707
9 TP63 NM_003722.5(TP63): c.*2273A> G single nucleotide variant Uncertain significance rs886058239 3:189614564-189614564 3:189896775-189896775
10 TP63 NM_003722.5(TP63): c.*1846C> T single nucleotide variant Uncertain significance rs886058234 3:189614137-189614137 3:189896348-189896348
11 FBXW4 NM_022039.4(FBXW4): c.*233G> T single nucleotide variant Uncertain significance rs535051082 10:103370815-103370815 10:101611058-101611058
12 FBXW4 NM_022039.4(FBXW4): c.1657G> A (p.Ala553Thr) single nucleotide variant Uncertain significance rs200476624 10:103371095-103371095 10:101611338-101611338
13 FBXW4 NM_022039.4(FBXW4): c.192G> A (p.Thr64=) single nucleotide variant Uncertain significance rs886046647 10:103454671-103454671 10:101694914-101694914
14 FBXW4 NM_022039.4(FBXW4): c.134C> T (p.Ala45Val) single nucleotide variant Uncertain significance rs557225276 10:103454729-103454729 10:101694972-101694972
15 FBXW4 NM_022039.4(FBXW4): c.1254G> A (p.Thr418=) single nucleotide variant Uncertain significance rs142870264 10:103384549-103384549 10:101624792-101624792
16 FBXW4 NM_022039.4(FBXW4): c.1235+13T> G single nucleotide variant Uncertain significance rs193073481 10:103427630-103427630 10:101667873-101667873
17 FBXW4 NM_022039.4(FBXW4): c.1181A> G (p.His394Arg) single nucleotide variant Uncertain significance rs151048089 10:103427697-103427697 10:101667940-101667940
18 FBXW4 NM_022039.4(FBXW4): c.504_506GGC[3] (p.Ala170dup) short repeat Uncertain significance rs768227529 10:103454354-103454356 10:101694597-101694599
19 FBXW4 NM_022039.4(FBXW4): c.*606A> C single nucleotide variant Uncertain significance rs886046641 10:103370442-103370442 10:101610685-101610685
20 FBXW4 NM_022039.4(FBXW4): c.*311_*314dup duplication Uncertain significance rs562226127 10:103370734-103370737 10:101610977-101610980
21 FBXW4 NM_022039.4(FBXW4): c.1473C> T (p.His491=) single nucleotide variant Uncertain significance rs147424741 10:103371496-103371496 10:101611739-101611739
22 FBXW4 NM_022039.4(FBXW4): c.1465G> A (p.Glu489Lys) single nucleotide variant Uncertain significance rs770518721 10:103371504-103371504 10:101611747-101611747
23 FBXW4 NM_022039.4(FBXW4): c.1437C> T (p.Ser479=) single nucleotide variant Uncertain significance rs574963392 10:103372099-103372099 10:101612342-101612342
24 FBXW4 NM_022039.4(FBXW4): c.726-12G> T single nucleotide variant Uncertain significance rs755969920 10:103436205-103436205 10:101676448-101676448
25 FBXW4 NM_022039.4(FBXW4): c.493G> A (p.Glu165Lys) single nucleotide variant Uncertain significance rs886046643 10:103454370-103454370 10:101694613-101694613
26 FBXW4 NM_022039.4(FBXW4): c.437G> A (p.Trp146Ter) single nucleotide variant Uncertain significance rs886046644 10:103454426-103454426 10:101694669-101694669
27 FBXW4 NM_022039.4(FBXW4): c.409A> G (p.Arg137Gly) single nucleotide variant Uncertain significance rs886046645 10:103454454-103454454 10:101694697-101694697
28 FBXW4 NM_022039.4(FBXW4): c.353G> A (p.Gly118Glu) single nucleotide variant Uncertain significance rs532195262 10:103454510-103454510 10:101694753-101694753
29 TP63 NM_003722.5(TP63): c.766+3A> G single nucleotide variant Uncertain significance rs886058221 3:189582210-189582210 3:189864421-189864421
30 TP63 NM_003722.5(TP63): c.*235_*238del deletion Uncertain significance rs886058225 3:189612526-189612529 3:189894737-189894740
31 TP63 NM_003722.5(TP63): c.*2197C> A single nucleotide variant Uncertain significance rs886058237 3:189614488-189614488 3:189896699-189896699
32 TP63 NM_003722.5(TP63): c.*1181T> C single nucleotide variant Uncertain significance rs565556454 3:189613472-189613472 3:189895683-189895683
33 TP63 NM_003722.5(TP63): c.*1217T> C single nucleotide variant Uncertain significance rs886058231 3:189613508-189613508 3:189895719-189895719
34 TP63 NM_003722.5(TP63): c.*1702G> A single nucleotide variant Uncertain significance rs886058232 3:189613993-189613993 3:189896204-189896204
35 TP63 NM_003722.5(TP63): c.*2555dup duplication Uncertain significance rs772929136 3:189614846-189614846 3:189897057-189897057
36 TP63 NM_003722.5(TP63): c.1644C> T (p.Ser548=) single nucleotide variant Uncertain significance rs763019843 3:189607265-189607265 3:189889476-189889476
37 TP63 NM_003722.5(TP63): c.*295T> A single nucleotide variant Uncertain significance rs886058226 3:189612586-189612586 3:189894797-189894797
38 TP63 NM_003722.5(TP63): c.*1164A> G single nucleotide variant Uncertain significance rs886058230 3:189613455-189613455 3:189895666-189895666
39 TP63 NM_003722.5(TP63): c.*1472A> G single nucleotide variant Uncertain significance rs375551286 3:189613763-189613763 3:189895974-189895974
40 TP63 NM_003722.5(TP63): c.*2009T> C single nucleotide variant Uncertain significance rs886058236 3:189614300-189614300 3:189896511-189896511
41 TP63 NM_003722.5(TP63): c.*1947dup duplication Uncertain significance rs140654135 3:189614238-189614238 3:189896449-189896449
42 TP63 NM_003722.5(TP63): c.*2426C> T single nucleotide variant Uncertain significance rs568346565 3:189614717-189614717 3:189896928-189896928
43 TP63 NM_003722.5(TP63): c.-65C> T single nucleotide variant Uncertain significance rs886058220 3:189349240-189349240 3:189631451-189631451
44 TP63 NM_003722.5(TP63): c.899C> A (p.Thr300Lys) single nucleotide variant Uncertain significance rs886058222 3:189585638-189585638 3:189867849-189867849
45 TP63 NM_003722.5(TP63): c.*221G> A single nucleotide variant Uncertain significance rs886058224 3:189612512-189612512 3:189894723-189894723
46 TP63 NM_003722.5(TP63): c.*382A> G single nucleotide variant Uncertain significance rs886058227 3:189612673-189612673 3:189894884-189894884
47 TP63 NM_003722.5(TP63): c.*1130_*1133del deletion Uncertain significance rs886058229 3:189613421-189613424 3:189895632-189895635
48 TP63 NM_003722.5(TP63): c.1994T> G (p.Met665Arg) single nucleotide variant Uncertain significance rs886058223 3:189612242-189612242 3:189894453-189894453
49 TP63 NM_003722.5(TP63): c.*519C> T single nucleotide variant Uncertain significance rs886058228 3:189612810-189612810 3:189895021-189895021
50 TP63 NM_003722.5(TP63): c.1374A> G (p.Ser458=) single nucleotide variant Uncertain significance rs141794685 3:189604207-189604207 3:189886418-189886418

Expression for Split-Hand/foot Malformation 1

Search GEO for disease gene expression data for Split-Hand/foot Malformation 1.

Pathways for Split-Hand/foot Malformation 1

GO Terms for Split-Hand/foot Malformation 1

Biological processes related to Split-Hand/foot Malformation 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 9.65 ZNF44 ZNF143 ZNF133 TP63 DLX5
2 cell proliferation GO:0008283 9.54 TP63 MAP3K20 DLX5
3 epithelial cell differentiation GO:0030855 9.32 TP63 DLX5
4 embryonic limb morphogenesis GO:0030326 9.16 TP63 DLX5
5 transcription by RNA polymerase II GO:0006366 8.96 ZNF148 ZNF143
6 anatomical structure formation involved in morphogenesis GO:0048646 8.62 TP63 DLX5

Molecular functions related to Split-Hand/foot Malformation 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.63 ZNF44 ZNF148 ZNF143 ZNF133 TP63 DLX5
2 DNA-binding transcription factor activity GO:0003700 9.56 ZNF148 ZNF143 ZNF133 TP63
3 transcription regulatory region DNA binding GO:0044212 9.13 ZNF148 TP63 DLX5
4 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.1 ZNF44 ZNF148 ZNF143 ZNF133 TP63 DLX5

Sources for Split-Hand/foot Malformation 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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
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44 MeSH
45 MESH via Orphanet
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49 NCI
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
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73 UMLS via Orphanet
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