ECD
MCID: SPL067
MIFTS: 48

Split-Hand/foot Malformation 1 (ECD)

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 76 55 6 73
Shfm1 57 12 53
Shfd1 57 12 53
Split Hand-Foot Malformation 1 12 15
Split Hand Foot Deformity 1 53 73
Split-Hand Deformity 57 76
Split-Hand/foot Malformation 1 with or Without Deafness 57
Split-Hand/foot Deformity 1; Shfd1; Shsf1 57
Split Hand/foot Malformation Type 1 13
Split Hand/foot Malformation 1 57
Split Hand Foot Malformation 1 53
Split-Hand/foot Malformation 73
Split-Hand/foot Deformity 1 57
Split Hand Malformation1 53
Split Hand Deformity 1 53
Ectrodactyly; Ecd 57
Ecd 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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)


HPO:

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


Classifications:



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 isolated split hand-split foot malformation. An important gene associated with Split-Hand/foot Malformation 1 is SEM1 (SEM1, 26S Proteasome Complex Subunit). Affiliated tissues include bone, heart and brain, and related phenotypes are clinodactyly and intellectual disability

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 : 76 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 184)
# Related Disease Score Top Affiliating Genes
1 split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive 34.4 DLX5 SEM1
2 isolated split hand-split foot malformation 32.4 DLX5 SEM1 TP63
3 split-hand/foot malformation 6 31.4 DLX5 SEM1 TP63
4 split-hand/foot malformation 4 31.4 DLX5 SEM1 TP63
5 split-hand/foot malformation 5 31.3 DLX5 SEM1 SHFM5 TP63
6 split-hand/foot malformation 2 31.3 DLX5 SEM1 SHFM2 TP63
7 split hand-foot malformation 30.1 DLX5 MAP3K20 SEM1 TP63
8 rapp-hodgkin syndrome 29.9 DLX5 SEM1 TP63
9 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 12.5
10 ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome 12.5
11 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 12.4
12 femur bifid with monodactylous ectrodactyly 12.3
13 fibular aplasia ectrodactyly 12.3
14 intellectual disability-spasticity-ectrodactyly syndrome 12.2
15 ectrodactyly and ectodermal dysplasia without cleft lip/palate 12.2
16 brachydactyly-ectrodactyly with fibular aplasia or hypoplasia 12.2
17 erdheim-chester disease 12.2
18 femur, unilateral bifid, with monodactylous ectrodactyly 12.1
19 anonychia-onychodystrophy with brachydactyly type b and ectrodactyly 12.1
20 cleft palate, cardiac defect, genital anomalies, and ectrodactyly 12.1
21 ectrodactyly cardiopathy dysmorphism 12.1
22 ectrodactyly-cleft palate syndrome 12.1
23 hartsfield syndrome 12.1
24 ectrodactyly-polydactyly 12.0
25 anonychia-ectrodactyly 12.0
26 phocomelia-ectrodactyly, ear malformation, deafness, and sinus arrhythmia 12.0
27 phocomelia ectrodactyly deafness sinus arrhythmia 12.0
28 tibial aplasia-ectrodactyly syndrome 12.0
29 ectrodactyly of lower limbs, congenital heart defect, and micrognathia 11.9
30 cleft palate cardiac defect ectrodactyly 11.9
31 holoprosencephaly ectrodactyly cleft lip palate 11.9
32 hydrops ectrodactyly syndactyly 11.9
33 short stature monodactylous ectrodactyly cleft palate 11.9
34 tibial aplasia ectrodactyly hydrocephalus 11.9
35 adult syndrome 11.9
36 atrioventricular septal defect 11.8
37 triphalangeal thumbs with brachyectrodactyly 11.8
38 limb-mammary syndrome 11.8
39 microphthalmia, syndromic 8 11.8
40 split-foot deformity with mandibulofacial dysostosis 11.6
41 kasznica carlson coppedge syndrome 11.5
42 acrofacial dysostosis 1, nager type 11.4
43 focal dermal hypoplasia 11.3
44 jones hersh yusk syndrome 11.2
45 saal bulas syndrome 11.2
46 split-hand/foot malformation with long bone deficiency 1 11.2
47 split-hand with congenital nystagmus, fundal changes, and cataracts 11.1
48 hemifacial atrophy, progressive 11.1
49 limb defects, distal transverse, with mental retardation and spasticity 11.1
50 split-hand/foot malformation 3 11.0

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

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

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

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

Drugs & Therapeutics for Split-Hand/foot Malformation 1

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 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, Brain, Kidney, Eye, Tongue, Uterus

Publications for Split-Hand/foot Malformation 1

Articles related to Split-Hand/foot Malformation 1:

(show top 50) (show all 146)
# Title Authors Year
1
Evolution of Acquired Middle Ear Cholesteatoma in Patients With Ectrodactyly, Ectodermal Dysplasia, Cleft Lip/Palate (EEC) Syndrome. ( 30113563 )
2018
2
19q13.11 microdeletion: Clinical features overlapping ectrodactyly ectodermal dysplasia-clefting syndrome phenotype. ( 29988626 )
2018
3
Oral Mucosa-Derived Induced Pluripotent Stem Cells from Patients with Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome. ( 29989433 )
2018
4
Ophthalmological findings in ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome: a case report. ( 30208149 )
2018
5
MPP1/p55 gene deletion in a hemophilia A patient with ectrodactyly and severe developmental defects. ( 30358901 )
2018
6
Ectrodactyly in a Chinese patient born to a mother with neuromyelitis optica spectrum disorder. ( 29149698 )
2018
7
Oral health considerations in a patient with oligosymptomatic ectrodactyly-ectodermal dysplasia-cleft syndrome. ( 28253185 )
2017
8
Ectrodactyly in Limousin calves. ( 28694368 )
2017
9
Phenotypic subregions within the split-hand/foot malformation 1 locus. ( 26839112 )
2016
10
Personalized Stem Cell Therapy to Correct Corneal Defects Due to a Unique Homozygous-Heterozygous Mosaicism of Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome. ( 27151912 )
2016
11
Limited ectrodactyly, ectodermal dysplasia and cleft lip-palate syndrome with a p63 mutation, associated with linear and whorled naevoid hypermelanosis. ( 24460914 )
2014
12
Surgical induction of metacarpal synostosis for treatment of ectrodactyly in a dog. ( 24569849 )
2014
13
Limb salvage treatment for Gollop-Wolfgang complex (femoral bifurcation, complete tibial hemimelia, and hand ectrodactyly). ( 23660549 )
2013
14
Prenatal diagnosis of bilateral ectrodactyly and radial agenesis associated with trisomy 10 mosaicism. ( 23401811 )
2013
15
A case of ectrodactyly in a neonate. ( 24251264 )
2013
16
Three new patients with FATCO: fibular agenesis with ectrodactyly. ( 22628253 )
2012
17
How many fingers should be there to be a competent electrician?-two cases of ectrodactyly. ( 22707690 )
2012
18
Bilateral ectrodactyly and spinal deformation in a mixed-breed dog. ( 21461206 )
2011
19
Somatic/gonadal mosaicism in a syndromic form of ectrodactyly, including eye abnormalities, documented through array-based comparative genomic hybridization. ( 21485001 )
2011
20
Familial ectrodactyly syndrome in a nigerian child: a case report. ( 22043435 )
2011
21
Ectrodactyly and prenatal diagnosis. ( 23204691 )
2011
22
Do you know this syndrome? Ectrodactyly - ectodermal dysplasia - cleft lip/palate(EEC) syndrome. ( 20944926 )
2010
23
Sensitivity to cadmium-chloride-induced forelimb ectrodactyly is independent of the p53 gene-dosage in the C57BL/6J mouse. ( 20213698 )
2010
24
Surgical management of ectrodactyly in a Siberian husky. ( 20592835 )
2010
25
Prenatal diagnosis of a case of ectrodactyly in 2D and 3D ultrasound. ( 19421951 )
2009
26
Complex rearrangement of chromosomes 7q21.13-q22.1 confirms the ectrodactyly-deafness locus and suggests new candidate genes. ( 18080328 )
2008
27
Prenatally diagnosed ectrodactyly at 16 weeks' gestation by 2- and 3-dimensional ultrasonography: a case report. ( 18753750 )
2008
28
Tibial agenesis-ectrodactyly syndrome associated with novel cardiovascular and bronchopulmonary malformations. ( 17159515 )
2007
29
Altered localization of gene expression in both ectoderm and mesoderm is associated with a murine strain difference in retinoic acid-induced forelimb ectrodactyly. ( 17335046 )
2007
30
Tibial aplasia-hypoplasia and ectrodactyly in monozygotic twins with a discordant phenotype. ( 17414007 )
2007
31
Interactive effects of cadmium and all-trans-retinoic acid on the induction of forelimb ectrodactyly in C57BL/6 mice. ( 16369952 )
2006
32
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. ( 16688753 )
2006
33
Familial ectrodactyly. ( 17060436 )
2006
34
Cadmium-induced postaxial forelimb ectrodactyly: association with altered sonic hedgehog signaling. ( 15749261 )
2005
35
Shh signaling in limb bud ectoderm: potential role in teratogen-induced postaxial ectrodactyly. ( 15858818 )
2005
36
Typical isolated ectrodactyly of hands and feet: early antenatal diagnosis. ( 16147841 )
2005
37
Ectrodactyly in a West Highland white terrier. ( 15206479 )
2004
38
Association of ectrodactyly and distal phocomelia. ( 12416640 )
2002
39
Ectrodactyly and Germany's eugenics law of 14 July 1933. ( 12116260 )
2002
40
Pedal ectrodactyly: a case report with a new surgical management. ( 12400716 )
2002
41
Ectrodactyly. ( 17656918 )
2002
42
Ectrodactyly-ectodermal dysplasia clefting syndrome. ( 11562050 )
2001
43
Ectrodactyly-ectodermal dysplasia-cleft lip and palate syndrome in twins. ( 11716280 )
2001
44
Bilateral tibial agenesis with ectrodactyly (OMIM 119100): further evidence for autosomal recessive inheritance. ( 11754046 )
2001
45
Non-Hodgkin's lymphoma in a patient with ectrodactyly ectodermal dysplasia-clefting syndrome. ( 10936828 )
2000
46
Ectrodactyly-ectodermal dysplasia-clefting syndrome. ( 11055171 )
2000
47
Autosomal dominant ectrodactyly with sensorineural deafness. ( 10826624 )
2000
48
Caffeine decreases the occurrence of cadmium-induced forelimb ectrodactyly in C57BL/6J mice. ( 11029150 )
2000
49
Ectrodactyly and glaucoma associated with a 7q21.2-q31.2 interstitial deletion. ( 11045577 )
2000
50
Ectrodactyly. A case report. ( 11103595 )
2000

Variations for Split-Hand/foot Malformation 1

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

6 (show top 50) (show all 203)
# Gene Variation Type Significance SNP ID Assembly Location
1 DLX5 NM_005221.5(DLX5): c.558G> T (p.Gln186His) single nucleotide variant Pathogenic rs398122527 GRCh37 Chromosome 7, 96650360: 96650360
2 DLX5 NM_005221.5(DLX5): c.558G> T (p.Gln186His) single nucleotide variant Pathogenic rs398122527 GRCh38 Chromosome 7, 97021048: 97021048
3 DLX5 NM_005221.5(DLX5): c.115G> T (p.Glu39Ter) single nucleotide variant Pathogenic rs587777842 GRCh37 Chromosome 7, 96653821: 96653821
4 DLX5 NM_005221.5(DLX5): c.115G> T (p.Glu39Ter) single nucleotide variant Pathogenic rs587777842 GRCh38 Chromosome 7, 97024509: 97024509
5 FBXW4 NM_022039.3(FBXW4): c.69C> G (p.Ala23=) single nucleotide variant Benign/Likely benign rs61761937 GRCh37 Chromosome 10, 103454329: 103454329
6 FBXW4 NM_022039.3(FBXW4): c.69C> G (p.Ala23=) single nucleotide variant Benign/Likely benign rs61761937 GRCh38 Chromosome 10, 101694572: 101694572
7 FBXW4 NM_022039.3(FBXW4): c.7G> C (p.Ala3Pro) single nucleotide variant Benign/Likely benign rs111600818 GRCh37 Chromosome 10, 103454391: 103454391
8 FBXW4 NM_022039.3(FBXW4): c.7G> C (p.Ala3Pro) single nucleotide variant Benign/Likely benign rs111600818 GRCh38 Chromosome 10, 101694634: 101694634
9 FBXW4 NM_022039.3(FBXW4): c.-5T> A single nucleotide variant Benign/Likely benign rs61382490 GRCh37 Chromosome 10, 103454402: 103454402
10 FBXW4 NM_022039.3(FBXW4): c.-5T> A single nucleotide variant Benign/Likely benign rs61382490 GRCh38 Chromosome 10, 101694645: 101694645
11 MAP3K20 NM_016653.2(MAP3K20): c.1103T> G (p.Phe368Cys) single nucleotide variant Pathogenic rs863225437 GRCh37 Chromosome 2, 174097087: 174097087
12 MAP3K20 NM_016653.2(MAP3K20): c.1103T> G (p.Phe368Cys) single nucleotide variant Pathogenic rs863225437 GRCh38 Chromosome 2, 173232359: 173232359
13 TP63 NM_003722.4(TP63): c.859C> T (p.Leu287=) single nucleotide variant Benign/Likely benign rs33979049 GRCh37 Chromosome 3, 189584563: 189584563
14 TP63 NM_003722.4(TP63): c.859C> T (p.Leu287=) single nucleotide variant Benign/Likely benign rs33979049 GRCh38 Chromosome 3, 189866774: 189866774
15 TP63 NM_003722.4(TP63): c.1587C> T (p.Leu529=) single nucleotide variant Likely benign rs141847552 GRCh38 Chromosome 3, 189889419: 189889419
16 TP63 NM_003722.4(TP63): c.1587C> T (p.Leu529=) single nucleotide variant Likely benign rs141847552 GRCh37 Chromosome 3, 189607208: 189607208
17 TP63 NM_003722.4(TP63): c.*45C> T single nucleotide variant Benign rs34057105 GRCh38 Chromosome 3, 189894547: 189894547
18 TP63 NM_003722.4(TP63): c.*45C> T single nucleotide variant Benign rs34057105 GRCh37 Chromosome 3, 189612336: 189612336
19 FBXW4 NM_022039.3(FBXW4): c.945T> C (p.Tyr315=) single nucleotide variant Benign/Likely benign rs35614606 GRCh37 Chromosome 10, 103372126: 103372126
20 FBXW4 NM_022039.3(FBXW4): c.945T> C (p.Tyr315=) single nucleotide variant Benign/Likely benign rs35614606 GRCh38 Chromosome 10, 101612369: 101612369
21 TP63 NM_003722.4(TP63): c.1531C> A (p.Pro511Thr) single nucleotide variant Likely benign rs148076109 GRCh37 Chromosome 3, 189607152: 189607152
22 TP63 NM_003722.4(TP63): c.1531C> A (p.Pro511Thr) single nucleotide variant Likely benign rs148076109 GRCh38 Chromosome 3, 189889363: 189889363
23 TP63 NM_003722.4(TP63): c.303G> A (p.Ser101=) single nucleotide variant Likely benign rs186864205 GRCh37 Chromosome 3, 189456542: 189456542
24 TP63 NM_003722.4(TP63): c.303G> A (p.Ser101=) single nucleotide variant Likely benign rs186864205 GRCh38 Chromosome 3, 189738753: 189738753
25 TP63 NM_003722.4(TP63): c.699A> G (p.Lys233=) single nucleotide variant Likely benign rs199727371 GRCh37 Chromosome 3, 189582140: 189582140
26 TP63 NM_003722.4(TP63): c.699A> G (p.Lys233=) single nucleotide variant Likely benign rs199727371 GRCh38 Chromosome 3, 189864351: 189864351
27 TP63 NM_003722.4(TP63): c.766+3A> G single nucleotide variant Uncertain significance rs886058221 GRCh37 Chromosome 3, 189582210: 189582210
28 TP63 NM_003722.4(TP63): c.766+3A> G single nucleotide variant Uncertain significance rs886058221 GRCh38 Chromosome 3, 189864421: 189864421
29 TP63 NM_003722.4(TP63): c.1652+14A> C single nucleotide variant Likely benign rs150685395 GRCh38 Chromosome 3, 189889498: 189889498
30 TP63 NM_003722.4(TP63): c.1652+14A> C single nucleotide variant Likely benign rs150685395 GRCh37 Chromosome 3, 189607287: 189607287
31 TP63 NM_003722.4(TP63): c.*235_*238delGTAG deletion Uncertain significance rs886058225 GRCh38 Chromosome 3, 189894737: 189894740
32 TP63 NM_003722.4(TP63): c.*235_*238delGTAG deletion Uncertain significance rs886058225 GRCh37 Chromosome 3, 189612526: 189612529
33 TP63 NM_003722.4(TP63): c.*627T> C single nucleotide variant Likely benign rs184452906 GRCh38 Chromosome 3, 189895129: 189895129
34 TP63 NM_003722.4(TP63): c.*627T> C single nucleotide variant Likely benign rs184452906 GRCh37 Chromosome 3, 189612918: 189612918
35 TP63 NM_003722.4(TP63): c.*2123C> T single nucleotide variant Likely benign rs36064124 GRCh38 Chromosome 3, 189896625: 189896625
36 TP63 NM_003722.4(TP63): c.*2123C> T single nucleotide variant Likely benign rs36064124 GRCh37 Chromosome 3, 189614414: 189614414
37 TP63 NM_003722.4(TP63): c.*2197C> A single nucleotide variant Uncertain significance rs886058237 GRCh37 Chromosome 3, 189614488: 189614488
38 TP63 NM_003722.4(TP63): c.*2197C> A single nucleotide variant Uncertain significance rs886058237 GRCh38 Chromosome 3, 189896699: 189896699
39 TP63 NM_003722.4(TP63): c.*2625A> T single nucleotide variant Likely benign rs35694511 GRCh38 Chromosome 3, 189897127: 189897127
40 TP63 NM_003722.4(TP63): c.*2625A> T single nucleotide variant Likely benign rs35694511 GRCh37 Chromosome 3, 189614916: 189614916
41 TP63 NM_003722.4(TP63): c.*2719_*2720delTT deletion Likely benign rs886058242 GRCh38 Chromosome 3, 189897221: 189897222
42 TP63 NM_003722.4(TP63): c.*2719_*2720delTT deletion Likely benign rs886058242 GRCh37 Chromosome 3, 189615010: 189615011
43 TP63 NM_003722.4(TP63): c.409G> C (p.Asp137His) single nucleotide variant Uncertain significance rs762935508 GRCh37 Chromosome 3, 189526145: 189526145
44 TP63 NM_003722.4(TP63): c.409G> C (p.Asp137His) single nucleotide variant Uncertain significance rs762935508 GRCh38 Chromosome 3, 189808356: 189808356
45 TP63 NM_003722.4(TP63): c.766+5G> A single nucleotide variant Uncertain significance rs374425727 GRCh37 Chromosome 3, 189582212: 189582212
46 TP63 NM_003722.4(TP63): c.766+5G> A single nucleotide variant Uncertain significance rs374425727 GRCh38 Chromosome 3, 189864423: 189864423
47 TP63 NM_003722.4(TP63): c.1374A> G (p.Ser458=) single nucleotide variant Uncertain significance rs141794685 GRCh38 Chromosome 3, 189886418: 189886418
48 TP63 NM_003722.4(TP63): c.1374A> G (p.Ser458=) single nucleotide variant Uncertain significance rs141794685 GRCh37 Chromosome 3, 189604207: 189604207
49 TP63 NM_003722.4(TP63): c.*232T> C single nucleotide variant Likely benign rs569527175 GRCh38 Chromosome 3, 189894734: 189894734
50 TP63 NM_003722.4(TP63): c.*232T> C single nucleotide variant Likely benign rs569527175 GRCh37 Chromosome 3, 189612523: 189612523

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 DLX5 TP63 ZNF133 ZNF143 ZNF44
2 cell proliferation GO:0008283 9.54 DLX5 MAP3K20 TP63
3 epithelial cell differentiation GO:0030855 9.32 DLX5 TP63
4 transcription by RNA polymerase II GO:0006366 9.26 DLX5 TP63 ZNF143 ZNF148
5 embryonic limb morphogenesis GO:0030326 9.16 DLX5 TP63
6 anatomical structure formation involved in morphogenesis GO:0048646 8.62 DLX5 TP63

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 DLX5 TP63 ZNF133 ZNF143 ZNF148 ZNF44
2 DNA-binding transcription factor activity GO:0003700 9.62 TP63 ZNF133 ZNF143 ZNF148
3 proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001077 9.43 DLX5 TP63 ZNF143
4 transcription regulatory region DNA binding GO:0044212 9.13 DLX5 TP63 ZNF148
5 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.1 DLX5 TP63 ZNF133 ZNF143 ZNF148 ZNF44

Sources for Split-Hand/foot Malformation 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
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32 HPO
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34 ICD10 via Orphanet
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
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74 UMLS via Orphanet
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