SHFM
MCID: ISL121
MIFTS: 46

Isolated Split Hand-Split Foot Malformation (SHFM)

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Isolated Split Hand-Split Foot Malformation

MalaCards integrated aliases for Isolated Split Hand-Split Foot Malformation:

Name: Isolated Split Hand-Split Foot Malformation 59
Ectrodactyly 59 72
Split Hand Foot Malformation 59
Split-Hand/foot Malformation 72
Split Hand Foot Deformity 1 72
Split Hand Foot Deformity 72
Shfm 59

Characteristics:

Orphanet epidemiological data:

59
isolated split hand-split foot malformation
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

ICD10 via Orphanet 34 Q71.6 Q72.7
UMLS via Orphanet 73 C0265554
Orphanet 59 ORPHA2440
UMLS 72 C0265554 C2699510 C2931018 more

Summaries for Isolated Split Hand-Split Foot Malformation

MalaCards based summary : Isolated Split Hand-Split Foot Malformation, also known as ectrodactyly, is related to split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive and split hand-foot malformation. An important gene associated with Isolated Split Hand-Split Foot Malformation is TP63 (Tumor Protein P63), and among its related pathways/superpathways are Signaling by Wnt and MECP2 and Associated Rett Syndrome. The drugs diuretics and Hormones have been mentioned in the context of this disorder. Affiliated tissues include heart, bone and skin, and related phenotypes are oligodactyly and finger syndactyly

Related Diseases for Isolated Split Hand-Split Foot Malformation

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

(show top 50) (show all 268)
# Related Disease Score Top Affiliating Genes
1 split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive 33.5 SEM1 DLX6 DLX5
2 split hand-foot malformation 31.6 WNT10B TP63 SEM1 DLX5
3 split-hand/foot malformation 6 29.8 WNT10B TP63 SEM1 DLX5 BTRC
4 split-hand/foot malformation 1 29.6 TP63 SEM1 DLX5
5 paranoid personality disorder 29.1 SEM1 DLX5
6 rapp-hodgkin syndrome 28.8 TP63 SEM1 DLX6 DLX5
7 split-hand/foot malformation 3 28.7 WNT10B SEM1 BTRC
8 split-hand/foot malformation 5 27.2 WNT10B TP63 SEM1 DLX5 BTRC
9 split-hand/foot malformation 4 27.1 WNT10B TP63 SEM1 DLX6 DLX5 BTRC
10 split-hand/foot malformation 2 26.9 WNT10B TP63 SEM1 DLX6 DLX5 BTRC
11 split-hand/foot malformation with long bone deficiency 2 12.8
12 ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome 12.7
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 ectrodactyly-polydactyly 12.3
20 hartsfield syndrome 12.3
21 femur, unilateral bifid, with monodactylous ectrodactyly 12.3
22 anonychia-ectrodactyly 12.3
23 anonychia-onychodystrophy with brachydactyly type b and ectrodactyly 12.3
24 ectrodactyly cardiopathy dysmorphism 12.3
25 ectrodactyly-cleft palate syndrome 12.3
26 tibial aplasia-ectrodactyly syndrome 12.3
27 holoprosencephaly ectrodactyly cleft lip palate 12.2
28 ectrodactyly of lower limbs, congenital heart defect, and micrognathia 12.2
29 microphthalmia, syndromic 8 12.1
30 phocomelia-ectrodactyly, ear malformation, deafness, and sinus arrhythmia 12.1
31 phocomelia ectrodactyly deafness sinus arrhythmia 12.1
32 obsolete: blepharoptosis-cleft palate-ectrodactyly-dental anomalies syndrome 12.1
33 ectrodactyly with and without other manifestations 12.1
34 split-hand/foot malformation with long bone deficiency 1 12.0
35 triphalangeal thumbs with brachyectrodactyly 12.0
36 split-foot deformity with mandibulofacial dysostosis 12.0
37 focal dermal hypoplasia 11.7
38 kasznica carlson coppedge syndrome 11.6
39 limb defects, distal transverse, with mental retardation and spasticity 11.5
40 adams-oliver syndrome 1 11.4
41 jones hersh yusk syndrome 11.4
42 landy-donnai syndrome 11.4
43 saal bulas syndrome 11.4
44 split-hand with congenital nystagmus, fundal changes, and cataracts 11.2
45 ankyloblepharon-ectodermal defects-cleft lip/palate 11.1
46 fibular aplasia, tibial campomelia, and oligosyndactyly syndrome 11.1
47 adams-oliver syndrome 2 11.1
48 adams-oliver syndrome 3 11.1
49 adams-oliver syndrome 4 11.1
50 adams-oliver syndrome 5 11.1

Graphical network of the top 20 diseases related to Isolated Split Hand-Split Foot Malformation:



Diseases related to Isolated Split Hand-Split Foot Malformation

Symptoms & Phenotypes for Isolated Split Hand-Split Foot Malformation

Human phenotypes related to Isolated Split Hand-Split Foot Malformation:

59 32 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 oligodactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0012165
2 finger syndactyly 59 32 frequent (33%) Frequent (79-30%) HP:0006101
3 sensorineural hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000407
4 split hand 59 32 occasional (7.5%) Occasional (29-5%) HP:0001171
5 absent hand 59 32 occasional (7.5%) Occasional (29-5%) HP:0004050
6 aniridia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000526

MGI Mouse Phenotypes related to Isolated Split Hand-Split Foot Malformation:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 8.92 BTRC DLX5 DLX6 TP63

Drugs & Therapeutics for Isolated Split Hand-Split Foot Malformation

Drugs for Isolated Split Hand-Split Foot Malformation (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 diuretics
2 Hormones
3 Diuretics, Potassium Sparing
4 Mineralocorticoids
5 Mineralocorticoid Receptor Antagonists
6 Natriuretic Agents
7 Angiotensin Receptor Antagonists
8 Hormone Antagonists
9 Hormones, Hormone Substitutes, and Hormone Antagonists

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Randomized Controlled Trial to Compare the Effects of Single Versus Repeated Intracoronary Application of Autologous Bone Marrow-derived Mononuclear Cells on Total and SHFM-predicted Mortality in Patients With Chronic Post-infarction Heart Failure Recruiting NCT01693042 Phase 2, Phase 3
2 ENABLE: CHF-PC (Educate, Nurture, Advise, Before Life Ends: Comprehensive Heartcare for Patients and Caregivers) Completed NCT03177447
3 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
4 Physician Intuition Versus Model Predicted Prognosis in Heart Failure Recruiting NCT04009798
5 Cardiac Contractility Modulation (CCM) Therapy in Subjects With Medically Refractory Heart Failure: A Randomized Efficacy Study Terminated NCT02857309 Optimal medical therapy

Search NIH Clinical Center for Isolated Split Hand-Split Foot Malformation

Genetic Tests for Isolated Split Hand-Split Foot Malformation

Anatomical Context for Isolated Split Hand-Split Foot Malformation

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

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

Publications for Isolated Split Hand-Split Foot Malformation

Articles related to Isolated Split Hand-Split Foot Malformation:

(show top 50) (show all 684)
# 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 71
25196357 2014
2
Exome sequencing reveals a heterozygous DLX5 mutation in a Chinese family with autosomal-dominant split-hand/foot malformation. 38 71
24496061 2014
3
TP63-Related Disorders 38 71
20556892 2010
4
Isolated ectrodactyly caused by a heterozygous missense mutation in the transactivation domain of TP63. 38 71
15736220 2005
5
Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27. 38 71
10839977 2000
6
Homozygous nonsense mutation in WNT10B and sporadic split-hand/foot malformation (SHFM) with autosomal recessive inheritance. 71
20635353 2010
7
Homozygous WNT10b mutation and complex inheritance in Split-Hand/Foot Malformation. 71
18515319 2008
8
Evidence for autosomal recessive inheritance of split hand/split foot malformation: a report of nine cases. 71
12072797 2002
9
Anomalous inheritance in a kindred with split hand, split foot malformation. 71
3366140 1988
10
A novel mutation (c.1010G>T; p.R337L) in TP63 as a cause of split-hand/foot malformation with hypodontia. 38
31420900 2019
11
Single-cell RNA-seq identifies a reversible mesodermal activation in abnormally specified epithelia of p63 EEC syndrome. 38
31413199 2019
12
Morphological abnormalities in natural populations of the common South American toad Rhinella arenarum inhabiting fluoride-rich environments. 38
30959310 2019
13
A novel dominant-negative FGFR1 variant causes Hartsfield syndrome by deregulating RAS/ERK1/2 pathway. 38
30787447 2019
14
Tooth defects of EEC and AEC syndrome caused by heterozygous TP63 mutations in three Chinese families and genotype-phenotype correlation analyses of TP63-related disorders. 38
31050217 2019
15
Split hand/foot malformation with long bone deficiency associated with BHLHA9 gene duplication: a case report and review of literature. 38
31200655 2019
16
Ectrodactyly-ectodermal dysplasia-clefting syndrome with unusual cutaneous vitiligoid and psoriasiform lesions due to a novel single point TP63 gene mutation. 38
31333354 2019
17
Lower Extremity Surgical Treatment to Improve Function in a Patient with Gollop-Wolfgang Complex: A Case Report. 38
31211748 2019
18
Staged ocular fornix reconstruction for glaucoma drainage device under neoconjunctiva at the time of Boston type 1 Keratoprosthesis implantation. 38
30742989 2019
19
Dental management of a child with ectrodactyly ectodermal dysplasia cleft lip/palate syndrome: A case report. 38
30720215 2019
20
Outcomes of primary powered endoscopic dacryocystorhinostomy in syndromic congenital nasolacrimal duct obstruction. 38
30892112 2019
21
MPP1/p55 gene deletion in a hemophilia A patient with ectrodactyly and severe developmental defects. 38
30358901 2019
22
Mutant p63 Affects Epidermal Cell Identity through Rewiring the Enhancer Landscape. 38
30566872 2018
23
Deletion 7q21.2-q22.1 in a case with split hand-split foot malformation, sensorineural hearing loss and intellectual disability: Phenotype subtypes and the correlation with genotypes. 38
30543991 2018
24
Successful preterm pregnancy in a rare variation of Herlyn-Werner-Wunderlich syndrome: a case report. 38
30558561 2018
25
Sweating ability of patients with p63-associated syndromes. 38
30088137 2018
26
Infrared meibography and molecular assessment of p63 gene mutations in a Mexican patient with EEC syndrome. 38
30025988 2018
27
Evolution of Acquired Middle Ear Cholesteatoma in Patients With Ectrodactyly, Ectodermal Dysplasia, Cleft Lip/Palate (EEC) Syndrome. 38
30113563 2018
28
Ophthalmological findings in ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome: a case report. 38
30208149 2018
29
Oral Mucosa-Derived Induced Pluripotent Stem Cells from Patients with Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome. 38
29989433 2018
30
19q13.11 microdeletion: Clinical features overlapping ectrodactyly ectodermal dysplasia-clefting syndrome phenotype. 38
29988626 2018
31
Genetic analysis of a congenital split‑hand/split‑foot malformation 4 pedigree. 38
29620206 2018
32
Generation of a transgene-free induced pluripotent stem cells line (UNIPDi002-A) from oral mucosa epithelial stem cells carrying the R304Q mutation in TP63 gene. 38
29486400 2018
33
Induced pluripotent stem cells line (UNIPDi003-A) from a patient affected by EEC syndrome carrying the R279H mutation in TP63 gene. 38
29477592 2018
34
Surgical Management of Facial Features of Robinow Syndrome: A Case Report. 38
29610615 2018
35
Management of Severely Atrophic Maxilla in Ectrodactyly Ectodermal Dysplasia-cleft Syndrome. 38
29616174 2018
36
Ectrodactyly in a Chinese patient born to a mother with neuromyelitis optica spectrum disorder. 38
29149698 2018
37
A Novel PORCN Frameshift Mutation Leading to Focal Dermal Hypoplasia: A Case Report. 38
29525789 2018
38
Congenital Malformations Resembling VACTERL Association in a Golden Retriever. 38
29131674 2018
39
Five year outcomes of Boston type I keratoprosthesis as primary versus secondary penetrating corneal procedure in a matched case control study. 38
29408907 2018
40
Expanding the phenotypic spectrum of TP63-related disorders including the first set of monozygotic twins. 38
29130604 2018
41
[Focal dermal hypoplasia (Goltz syndrome)]. 38
29799531 2018
42
Femoral bifurcation and bilateral tibial hemimelia: case report. 38
30344883 2018
43
Homozygous sequence variants in the WNT10B gene underlie split hand/foot malformation. 38
29384555 2018
44
The Use of Variant Maps to Explore Domain-Specific Mutations of FGFR1. 38
28825856 2017
45
Patients with Congenital Limb Anomaly Show Short Telomere, Shutdown of Telomerase and Deregulated Expression of Various Telomere-Associated Proteins in Peripheral Blood Mononuclear Cells-A Case Series. 38
28969156 2017
46
De novo IGF2 mutation on the paternal allele in a patient with Silver-Russell syndrome and ectrodactyly. 38
28489339 2017
47
Ectrodactyly in Limousin calves. 38
28694368 2017
48
Identification of a de novo variant in CHUK in a patient with an EEC/AEC syndrome-like phenotype and hypogammaglobulinemia. 38
28513979 2017
49
Otorhinolaryngologic manifestations of Hartsfield syndrome: Case series and review of literature. 38
28583501 2017
50
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome. 38
28230601 2017

Variations for Isolated Split Hand-Split Foot Malformation

ClinVar genetic disease variations for Isolated Split Hand-Split Foot Malformation:

6 (show top 50) (show all 67)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 PLAA NM_001031689.3(PLAA): c.1487-1G> A single nucleotide variant Likely pathogenic 9:26913946-26913946 9:26913948-26913948
2 TP63 NM_003722.5(TP63): c.1374A> G (p.Ser458=) single nucleotide variant Uncertain significance rs141794685 3:189604207-189604207 3:189886418-189886418
3 TP63 NM_003722.5(TP63): c.766+5G> A single nucleotide variant Uncertain significance rs374425727 3:189582212-189582212 3:189864423-189864423
4 TP63 NM_003722.5(TP63): c.409G> C (p.Asp137His) single nucleotide variant Uncertain significance rs762935508 3:189526145-189526145 3:189808356-189808356
5 TP63 NM_003722.5(TP63): c.*2555dup duplication Uncertain significance rs772929136 3:189614846-189614846 3:189897057-189897057
6 TP63 NM_003722.5(TP63): c.*2273A> G single nucleotide variant Uncertain significance rs886058239 3:189614564-189614564 3:189896775-189896775
7 TP63 NM_003722.5(TP63): c.*1846C> T single nucleotide variant Uncertain significance rs886058234 3:189614137-189614137 3:189896348-189896348
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.*1217T> C single nucleotide variant Uncertain significance rs886058231 3:189613508-189613508 3:189895719-189895719
10 TP63 NM_003722.5(TP63): c.*1181T> C single nucleotide variant Uncertain significance rs565556454 3:189613472-189613472 3:189895683-189895683
11 TP63 NM_003722.5(TP63): c.*1130_*1133del deletion Uncertain significance rs886058229 3:189613421-189613424 3:189895632-189895635
12 TP63 NM_003722.5(TP63): c.*1702G> A single nucleotide variant Uncertain significance rs886058232 3:189613993-189613993 3:189896204-189896204
13 TP63 NM_003722.5(TP63): c.*519C> T single nucleotide variant Uncertain significance rs886058228 3:189612810-189612810 3:189895021-189895021
14 TP63 NM_003722.5(TP63): c.766+3A> G single nucleotide variant Uncertain significance rs886058221 3:189582210-189582210 3:189864421-189864421
15 TP63 NM_003722.5(TP63): c.*235_*238del deletion Uncertain significance rs886058225 3:189612526-189612529 3:189894737-189894740
16 TP63 NM_003722.5(TP63): c.*2197C> A single nucleotide variant Uncertain significance rs886058237 3:189614488-189614488 3:189896699-189896699
17 TP63 NM_003722.5(TP63): c.1644C> T (p.Ser548=) single nucleotide variant Uncertain significance rs763019843 3:189607265-189607265 3:189889476-189889476
18 TP63 NM_003722.5(TP63): c.*295T> A single nucleotide variant Uncertain significance rs886058226 3:189612586-189612586 3:189894797-189894797
19 TP63 NM_003722.5(TP63): c.*1164A> G single nucleotide variant Uncertain significance rs886058230 3:189613455-189613455 3:189895666-189895666
20 TP63 NM_003722.5(TP63): c.*1472A> G single nucleotide variant Uncertain significance rs375551286 3:189613763-189613763 3:189895974-189895974
21 TP63 NM_003722.5(TP63): c.*2009T> C single nucleotide variant Uncertain significance rs886058236 3:189614300-189614300 3:189896511-189896511
22 TP63 NM_003722.5(TP63): c.*1947dup duplication Uncertain significance rs140654135 3:189614238-189614238 3:189896449-189896449
23 TP63 NM_003722.5(TP63): c.*2426C> T single nucleotide variant Uncertain significance rs568346565 3:189614717-189614717 3:189896928-189896928
24 TP63 NM_003722.5(TP63): c.-65C> T single nucleotide variant Uncertain significance rs886058220 3:189349240-189349240 3:189631451-189631451
25 TP63 NM_003722.5(TP63): c.899C> A (p.Thr300Lys) single nucleotide variant Uncertain significance rs886058222 3:189585638-189585638 3:189867849-189867849
26 TP63 NM_003722.5(TP63): c.1994T> G (p.Met665Arg) single nucleotide variant Uncertain significance rs886058223 3:189612242-189612242 3:189894453-189894453
27 TP63 NM_003722.5(TP63): c.*221G> A single nucleotide variant Uncertain significance rs886058224 3:189612512-189612512 3:189894723-189894723
28 TP63 NM_003722.5(TP63): c.*382A> G single nucleotide variant Uncertain significance rs886058227 3:189612673-189612673 3:189894884-189894884
29 TP63 NM_003722.5(TP63): c.*101C> T single nucleotide variant Likely benign rs574438859 3:189612392-189612392 3:189894603-189894603
30 TP63 NM_003722.5(TP63): c.992+4A> C single nucleotide variant Likely benign rs534974406 3:189585735-189585735 3:189867946-189867946
31 TP63 NM_003722.5(TP63): c.1707G> A (p.Gly569=) single nucleotide variant Likely benign rs202009057 3:189608632-189608632 3:189890843-189890843
32 TP63 NM_003722.5(TP63): c.*2477T> G single nucleotide variant Likely benign rs186295449 3:189614768-189614768 3:189896979-189896979
33 TP63 NM_003722.5(TP63): c.*1959A> T single nucleotide variant Likely benign rs527726173 3:189614250-189614250 3:189896461-189896461
34 TP63 NM_003722.5(TP63): c.*2002T> G single nucleotide variant Likely benign rs35969817 3:189614293-189614293 3:189896504-189896504
35 TP63 NM_003722.5(TP63): c.*2139G> A single nucleotide variant Likely benign rs35356690 3:189614430-189614430 3:189896641-189896641
36 TP63 NM_003722.5(TP63): c.*2216G> A single nucleotide variant Likely benign rs35861864 3:189614507-189614507 3:189896718-189896718
37 TP63 NM_003722.5(TP63): c.*2625A> T single nucleotide variant Likely benign rs35694511 3:189614916-189614916 3:189897127-189897127
38 TP63 NM_003722.5(TP63): c.*2719_*2720del deletion Likely benign rs574327104 3:189615010-189615011 3:189897221-189897222
39 TP63 NM_003722.5(TP63): c.*627T> C single nucleotide variant Likely benign rs184452906 3:189612918-189612918 3:189895129-189895129
40 TP63 NM_003722.5(TP63): c.*2123C> T single nucleotide variant Likely benign rs36064124 3:189614414-189614414 3:189896625-189896625
41 TP63 NM_003722.5(TP63): c.1652+14A> C single nucleotide variant Likely benign rs150685395 3:189607287-189607287 3:189889498-189889498
42 TP63 NM_003722.5(TP63): c.1531C> A (p.Pro511Thr) single nucleotide variant Likely benign rs148076109 3:189607152-189607152 3:189889363-189889363
43 TP63 NM_003722.5(TP63): c.303G> A (p.Ser101=) single nucleotide variant Likely benign rs186864205 3:189456542-189456542 3:189738753-189738753
44 TP63 NM_003722.5(TP63): c.699A> G (p.Lys233=) single nucleotide variant Likely benign rs199727371 3:189582140-189582140 3:189864351-189864351
45 TP63 NM_003722.5(TP63): c.1587C> T (p.Leu529=) single nucleotide variant Likely benign rs141847552 3:189607208-189607208 3:189889419-189889419
46 TP63 NM_003722.5(TP63): c.*379T> A single nucleotide variant Likely benign rs192879052 3:189612670-189612670 3:189894881-189894881
47 TP63 NM_003722.5(TP63): c.*232T> C single nucleotide variant Likely benign rs569527175 3:189612523-189612523 3:189894734-189894734
48 TP63 NM_003722.5(TP63): c.*1620T> C single nucleotide variant Likely benign rs34328757 3:189613911-189613911 3:189896122-189896122
49 TP63 NM_003722.5(TP63): c.*854A> G single nucleotide variant Likely benign rs187751631 3:189613145-189613145 3:189895356-189895356
50 TP63 NM_003722.5(TP63): c.*2155G> A single nucleotide variant Likely benign rs573673077 3:189614446-189614446 3:189896657-189896657

Expression for Isolated Split Hand-Split Foot Malformation

Search GEO for disease gene expression data for Isolated Split Hand-Split Foot Malformation.

Pathways for Isolated Split Hand-Split Foot Malformation

Pathways related to Isolated Split Hand-Split Foot Malformation according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.89 WNT10B SEM1 BTRC
2 10.42 DLX6 DLX5

GO Terms for Isolated Split Hand-Split Foot Malformation

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.71 WNT10B TP63 DLX6 DLX5
2 positive regulation of canonical Wnt signaling pathway GO:0090263 9.51 WNT10B DLX5
3 cellular response to organic cyclic compound GO:0071407 9.49 WNT10B BTRC
4 roof of mouth development GO:0060021 9.48 DLX6 DLX5
5 inner ear morphogenesis GO:0042472 9.46 DLX6 DLX5
6 positive regulation of epithelial cell proliferation GO:0050679 9.43 DLX6 DLX5
7 skeletal system development GO:0001501 9.43 TP63 DLX6 DLX5
8 positive regulation of osteoblast differentiation GO:0045669 9.37 WNT10B TP63
9 epithelial cell differentiation GO:0030855 9.33 TP63 DLX6 DLX5
10 head development GO:0060322 9.32 DLX6 DLX5
11 embryonic limb morphogenesis GO:0030326 9.13 TP63 DLX6 DLX5
12 anatomical structure formation involved in morphogenesis GO:0048646 8.8 TP63 DLX6 DLX5

Sources for Isolated Split Hand-Split Foot Malformation

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
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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