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 58
Ectrodactyly 58 71
Split Hand Foot Malformation 58
Split-Hand/foot Malformation 71
Split Hand Foot Deformity 1 71
Split Hand Foot Deformity 71
Shfm 58

Characteristics:

Orphanet epidemiological data:

58
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:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q71.6 Q72.7
UMLS via Orphanet 72 C0265554
Orphanet 58 ORPHA2440
UMLS 71 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 Hormone Antagonists and Mineralocorticoids have been mentioned in the context of this disorder. Affiliated tissues include heart, bone and tongue, 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 263)
# Related Disease Score Top Affiliating Genes
1 split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive 32.9 WNT10B TP63 SEM1 DLX6 DLX5
2 split hand-foot malformation 31.3 WNT10B TP63 SEM1 DLX6 DLX5
3 ankyloblepharon-ectodermal defects-cleft lip/palate 31.1 TP63 DLX6 DLX5
4 chromosome 2q35 duplication syndrome 30.1 TP63 DLX6 DLX5
5 split-hand/foot malformation 1 29.9 TP63 SEM1 DLX5
6 split-hand/foot malformation 6 29.8 WNT10B TP63 SEM1 DLX6 DLX5 BTRC
7 orofacial cleft 29.7 TP63 DLX6 DLX5
8 rapp-hodgkin syndrome 29.5 TP63 DLX6 DLX5
9 cleft palate, isolated 29.4 TP63 DLX6 DLX5
10 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 29.2 WNT10B TP63 DLX6 DLX5
11 split-hand/foot malformation 5 29.1 SEM1 DLX6 DLX5
12 tooth agenesis 28.7 WNT10B TP63 DLX6 DLX5
13 split-hand/foot malformation 4 28.6 WNT10B TP63 SEM1 DLX6 DLX5
14 split-hand/foot malformation 3 28.4 TP63 SEM1 DLX6 DLX5 BTRC
15 split-hand/foot malformation 2 28.4 WNT10B TP63 SEM1 DLX6 DLX5
16 split-hand/foot malformation with long bone deficiency 2 12.8
17 ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome 12.7
18 cleft palate, cardiac defect, genital anomalies, and ectrodactyly 12.6
19 brachydactyly-ectrodactyly with fibular aplasia or hypoplasia 12.6
20 femur bifid with monodactylous ectrodactyly 12.5
21 ectrodactyly and ectodermal dysplasia without cleft lip/palate 12.5
22 intellectual disability-spasticity-ectrodactyly syndrome 12.4
23 ectrodactyly-polydactyly 12.3
24 hartsfield syndrome 12.3
25 femur, unilateral bifid, with monodactylous ectrodactyly 12.3
26 anonychia-ectrodactyly 12.3
27 anonychia-onychodystrophy with brachydactyly type b and ectrodactyly 12.3
28 ectrodactyly cardiopathy dysmorphism 12.3
29 ectrodactyly-cleft palate syndrome 12.3
30 tibial aplasia-ectrodactyly syndrome 12.3
31 ectrodactyly of lower limbs, congenital heart defect, and micrognathia 12.2
32 microphthalmia, syndromic 8 12.1
33 phocomelia-ectrodactyly, ear malformation, deafness, and sinus arrhythmia 12.1
34 phocomelia ectrodactyly deafness sinus arrhythmia 12.1
35 obsolete: blepharoptosis-cleft palate-ectrodactyly-dental anomalies syndrome 12.1
36 ectrodactyly with and without other manifestations 12.1
37 split-hand/foot malformation with long bone deficiency 1 12.1
38 triphalangeal thumbs with brachyectrodactyly 12.0
39 split-foot deformity with mandibulofacial dysostosis 12.0
40 focal dermal hypoplasia 11.7
41 limb defects, distal transverse, with mental retardation and spasticity 11.5
42 kasznica carlson coppedge syndrome 11.5
43 adams-oliver syndrome 1 11.4
44 jones hersh yusk syndrome 11.4
45 landy-donnai syndrome 11.4
46 saal bulas syndrome 11.4
47 split-hand with congenital nystagmus, fundal changes, and cataracts 11.2
48 alopecia-contractures-dwarfism mental retardation syndrome 11.1
49 fibular aplasia, tibial campomelia, and oligosyndactyly syndrome 11.1
50 adams-oliver syndrome 2 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:

58 31 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 oligodactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0012165
2 finger syndactyly 58 31 frequent (33%) Frequent (79-30%) HP:0006101
3 sensorineural hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000407
4 split hand 58 31 occasional (7.5%) Occasional (29-5%) HP:0001171
5 absent hand 58 31 occasional (7.5%) Occasional (29-5%) HP:0004050
6 aniridia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000526

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.26 BTRC DLX5 DLX6 TP63
2 skeleton MP:0005390 9.02 BTRC DLX5 DLX6 TP63 WNT10B

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

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 Active, not 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:

40
Heart, Bone, Tongue, Skin, 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 694)
# 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. 61 6
25196357 2014
2
Exome sequencing reveals a heterozygous DLX5 mutation in a Chinese family with autosomal-dominant split-hand/foot malformation. 61 6
24496061 2014
3
TP63-Related Disorders 61 6
20556892 2010
4
Isolated ectrodactyly caused by a heterozygous missense mutation in the transactivation domain of TP63. 61 6
15736220 2005
5
Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27. 61 6
10839977 2000
6
Split hand-foot malformation and a novel WNT10B mutation. 6
29427788 2018
7
Homozygous nonsense mutation in WNT10B and sporadic split-hand/foot malformation (SHFM) with autosomal recessive inheritance. 6
20635353 2010
8
Homozygous WNT10b mutation and complex inheritance in Split-Hand/Foot Malformation. 6
18515319 2008
9
Evidence for autosomal recessive inheritance of split hand/split foot malformation: a report of nine cases. 6
12072797 2002
10
Anomalous inheritance in a kindred with split hand, split foot malformation. 6
3366140 1988
11
[Identification of a Tp63 gene variant in an abortus with Ectrodactyly, Ectodermal dysplasia, Cleft lip/palate syndrome by whole-exome sequencing]. 61
32034739 2020
12
Outcomes of primary powered endoscopic dacryocystorhinostomy in syndromic congenital nasolacrimal duct obstruction. 61
30892112 2020
13
Goltz-Gorlin syndrome: a rare cause of ectrodactyly. 61
31563885 2020
14
Improvement of epidermal covering on AEC patients with severe skin erosions by PRIMA-1MET/APR-246. 61
31949132 2020
15
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. 61
30543991 2019
16
Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome. 61
31512363 2019
17
[Ectrodactyly ectodermal dysplasia-cleft lip/palate syndrome: a case report]. 61
31683385 2019
18
Split hand/foot malformation associated with 20p12.1 deletion: A case report. 61
31698100 2019
19
A novel mutation (c.1010G>T; p.R337L) in TP63 as a cause of split-hand/foot malformation with hypodontia. 61
31420900 2019
20
[Congenital ectrodactyly caused by chromosome 10q24.31 duplication and its pathogenetic analysis]. 61
31447422 2019
21
Single-cell RNA-seq identifies a reversible mesodermal activation in abnormally specified epithelia of p63 EEC syndrome. 61
31413199 2019
22
Morphological abnormalities in natural populations of the common South American toad Rhinella arenarum inhabiting fluoride-rich environments. 61
30959310 2019
23
A novel dominant-negative FGFR1 variant causes Hartsfield syndrome by deregulating RAS/ERK1/2 pathway. 61
30787447 2019
24
Ectrodactyly-ectodermal dysplasia-clefting syndrome with unusual cutaneous vitiligoid and psoriasiform lesions due to a novel single point TP63 gene mutation. 61
31333354 2019
25
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. 61
31050217 2019
26
Split hand/foot malformation with long bone deficiency associated with BHLHA9 gene duplication: a case report and review of literature. 61
31200655 2019
27
Staged ocular fornix reconstruction for glaucoma drainage device under neoconjunctiva at the time of Boston type 1 Keratoprosthesis implantation. 61
30742989 2019
28
Lower Extremity Surgical Treatment to Improve Function in a Patient with Gollop-Wolfgang Complex: A Case Report. 61
31211748 2019
29
Split Hand Foot Malformation Syndrome: A Novel Heterozygous FGFR1 Mutation Detected by Next Generation Sequencing. 61
31929729 2019
30
Dental management of a child with ectrodactyly ectodermal dysplasia cleft lip/palate syndrome: A case report. 61
30720215 2019
31
MPP1/p55 gene deletion in a hemophilia A patient with ectrodactyly and severe developmental defects. 61
30358901 2019
32
A Novel Homozygous Nonsense Mutation p.Cys366* in the WNT10B Gene Underlying Split-Hand/Split Foot Malformation in a Consanguineous Pakistani Family. 61
31998667 2019
33
Successful preterm pregnancy in a rare variation of Herlyn-Werner-Wunderlich syndrome: a case report. 61
30558561 2018
34
Mutant p63 Affects Epidermal Cell Identity through Rewiring the Enhancer Landscape. 61
30566872 2018
35
Infrared meibography and molecular assessment of p63 gene mutations in a Mexican patient with EEC syndrome. 61
30025988 2018
36
Sweating ability of patients with p63-associated syndromes. 61
30088137 2018
37
Evolution of Acquired Middle Ear Cholesteatoma in Patients With Ectrodactyly, Ectodermal Dysplasia, Cleft Lip/Palate (EEC) Syndrome. 61
30113563 2018
38
Ophthalmological findings in ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome: a case report. 61
30208149 2018
39
Oral Mucosa-Derived Induced Pluripotent Stem Cells from Patients with Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome. 61
29989433 2018
40
19q13.11 microdeletion: Clinical features overlapping ectrodactyly ectodermal dysplasia-clefting syndrome phenotype. 61
29988626 2018
41
Genetic analysis of a congenital split‑hand/split‑foot malformation 4 pedigree. 61
29620206 2018
42
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. 61
29486400 2018
43
Induced pluripotent stem cells line (UNIPDi003-A) from a patient affected by EEC syndrome carrying the R279H mutation in TP63 gene. 61
29477592 2018
44
Surgical Management of Facial Features of Robinow Syndrome: A Case Report. 61
29610615 2018
45
Management of Severely Atrophic Maxilla in Ectrodactyly Ectodermal Dysplasia-cleft Syndrome. 61
29616174 2018
46
Ectrodactyly in a Chinese patient born to a mother with neuromyelitis optica spectrum disorder. 61
29149698 2018
47
Congenital Malformations Resembling VACTERL Association in a Golden Retriever. 61
29131674 2018
48
Five year outcomes of Boston type I keratoprosthesis as primary versus secondary penetrating corneal procedure in a matched case control study. 61
29408907 2018
49
A Novel PORCN Frameshift Mutation Leading to Focal Dermal Hypoplasia: A Case Report. 61
29525789 2018
50
Femoral bifurcation and bilateral tibial hemimelia: case report. 61
30344883 2018

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 Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PLAA NM_001031689.3(PLAA):c.1487-1G>ASNV Likely pathogenic 598964 rs1426488816 9:26913946-26913946 9:26913948-26913948
2 TP63 NM_003722.5(TP63):c.*1846C>TSNV Uncertain significance 344417 rs886058234 3:189614137-189614137 3:189896348-189896348
3 TP63 NM_003722.5(TP63):c.*2205A>GSNV Uncertain significance 344427 rs886058238 3:189614496-189614496 3:189896707-189896707
4 TP63 NM_003722.5(TP63):c.*2273A>GSNV Uncertain significance 344429 rs886058239 3:189614564-189614564 3:189896775-189896775
5 TP63 NM_003722.5(TP63):c.*1947dupduplication Uncertain significance 344418 rs140654135 3:189614229-189614230 3:189896440-189896441
6 TP63 NM_003722.5(TP63):c.*2426C>TSNV Uncertain significance 344432 rs568346565 3:189614717-189614717 3:189896928-189896928
7 TP63 NM_003722.5(TP63):c.-65C>TSNV Uncertain significance 344378 rs886058220 3:189349240-189349240 3:189631451-189631451
8 TP63 NM_003722.5(TP63):c.899C>A (p.Thr300Lys)SNV Uncertain significance 344385 rs886058222 3:189585638-189585638 3:189867849-189867849
9 TP63 NM_003722.5(TP63):c.1994T>G (p.Met665Arg)SNV Uncertain significance 344391 rs886058223 3:189612242-189612242 3:189894453-189894453
10 TP63 NM_003722.5(TP63):c.*221G>ASNV Uncertain significance 344393 rs886058224 3:189612512-189612512 3:189894723-189894723
11 TP63 NM_003722.5(TP63):c.*382A>GSNV Uncertain significance 344398 rs886058227 3:189612673-189612673 3:189894884-189894884
12 TP63 NM_003722.5(TP63):c.766+3A>GSNV Uncertain significance 344383 rs886058221 3:189582210-189582210 3:189864421-189864421
13 TP63 NM_003722.5(TP63):c.*235_*238deldeletion Uncertain significance 344394 rs886058225 3:189612523-189612526 3:189894734-189894737
14 TP63 NM_003722.5(TP63):c.409G>C (p.Asp137His)SNV Uncertain significance 344381 rs762935508 3:189526145-189526145 3:189808356-189808356
15 TP63 NM_003722.5(TP63):c.766+5G>ASNV Uncertain significance 344384 rs374425727 3:189582212-189582212 3:189864423-189864423
16 TP63 NM_003722.5(TP63):c.1374A>G (p.Ser458=)SNV Uncertain significance 344387 rs141794685 3:189604207-189604207 3:189886418-189886418
17 TP63 NM_003722.5(TP63):c.*2197C>ASNV Uncertain significance 344426 rs886058237 3:189614488-189614488 3:189896699-189896699
18 TP63 NM_003722.5(TP63):c.*519C>TSNV Uncertain significance 344400 rs886058228 3:189612810-189612810 3:189895021-189895021
19 TP63 NM_003722.5(TP63):c.*1130_*1133deldeletion Uncertain significance 344407 rs886058229 3:189613419-189613422 3:189895630-189895633
20 TP63 NM_003722.5(TP63):c.*1181T>CSNV Uncertain significance 344409 rs565556454 3:189613472-189613472 3:189895683-189895683
21 TP63 NM_003722.5(TP63):c.*1217T>CSNV Uncertain significance 344410 rs886058231 3:189613508-189613508 3:189895719-189895719
22 TP63 NM_003722.5(TP63):c.*1702G>ASNV Uncertain significance 344415 rs886058232 3:189613993-189613993 3:189896204-189896204
23 TP63 NM_003722.5(TP63):c.*2555dupduplication Uncertain significance 344435 rs772929136 3:189614841-189614842 3:189897052-189897053
24 TP63 NM_003722.5(TP63):c.1644C>T (p.Ser548=)SNV Uncertain significance 344388 rs763019843 3:189607265-189607265 3:189889476-189889476
25 TP63 NM_003722.5(TP63):c.*295T>ASNV Uncertain significance 344396 rs886058226 3:189612586-189612586 3:189894797-189894797
26 TP63 NM_003722.5(TP63):c.*1164A>GSNV Uncertain significance 344408 rs886058230 3:189613455-189613455 3:189895666-189895666
27 TP63 NM_003722.5(TP63):c.*1472A>GSNV Uncertain significance 344413 rs375551286 3:189613763-189613763 3:189895974-189895974
28 TP63 NM_003722.5(TP63):c.*2009T>CSNV Uncertain significance 344422 rs886058236 3:189614300-189614300 3:189896511-189896511
29 TP63 NM_003722.5(TP63):c.*2139G>ASNV Likely benign 344424 rs35356690 3:189614430-189614430 3:189896641-189896641
30 TP63 NM_003722.5(TP63):c.*2216G>ASNV Likely benign 344428 rs35861864 3:189614507-189614507 3:189896718-189896718
31 TP63 NM_003722.5(TP63):c.*2636deldeletion Likely benign 344437 rs5855278 3:189614927-189614927 3:189897138-189897138
32 TP63 NM_003722.5(TP63):c.*2155G>ASNV Likely benign 344425 rs573673077 3:189614446-189614446 3:189896657-189896657
33 TP63 NM_003722.5(TP63):c.*2318G>ASNV Likely benign 344430 rs199834330 3:189614609-189614609 3:189896820-189896820
34 TP63 NM_003722.5(TP63):c.*1620T>CSNV Likely benign 344414 rs34328757 3:189613911-189613911 3:189896122-189896122
35 TP63 NM_003722.5(TP63):c.*2625A>TSNV Likely benign 344436 rs35694511 3:189614916-189614916 3:189897127-189897127
36 TP63 NM_003722.5(TP63):c.*2719_*2720deldeletion Likely benign 344438 rs574327104 3:189615007-189615008 3:189897218-189897219
37 TP63 NM_003722.5(TP63):c.*232T>CSNV Likely benign 344395 rs569527175 3:189612523-189612523 3:189894734-189894734
38 TP63 NM_003722.5(TP63):c.*379T>ASNV Likely benign 344397 rs192879052 3:189612670-189612670 3:189894881-189894881
39 TP63 NM_003722.5(TP63):c.*627T>CSNV Likely benign 344402 rs184452906 3:189612918-189612918 3:189895129-189895129
40 TP63 NM_003722.5(TP63):c.*2123C>TSNV Likely benign 344423 rs36064124 3:189614414-189614414 3:189896625-189896625
41 TP63 NM_003722.5(TP63):c.1652+14A>CSNV Likely benign 344389 rs150685395 3:189607287-189607287 3:189889498-189889498
42 TP63 NM_003722.5(TP63):c.1531C>A (p.Pro511Thr)SNV Likely benign 286990 rs148076109 3:189607152-189607152 3:189889363-189889363
43 TP63 NM_003722.5(TP63):c.303G>A (p.Ser101=)SNV Likely benign 344380 rs186864205 3:189456542-189456542 3:189738753-189738753
44 TP63 NM_003722.5(TP63):c.699A>G (p.Lys233=)SNV Likely benign 344382 rs199727371 3:189582140-189582140 3:189864351-189864351
45 TP63 NM_003722.5(TP63):c.*101C>TSNV Likely benign 344392 rs574438859 3:189612392-189612392 3:189894603-189894603
46 TP63 NM_003722.5(TP63):c.*803G>ASNV Likely benign 344404 rs544230654 3:189613094-189613094 3:189895305-189895305
47 TP63 NM_003722.5(TP63):c.*966C>TSNV Likely benign 344406 rs539983621 3:189613257-189613257 3:189895468-189895468
48 TP63 NM_003722.5(TP63):c.*1386T>CSNV Likely benign 344411 rs35785527 3:189613677-189613677 3:189895888-189895888
49 TP63 NM_003722.5(TP63):c.*1464G>TSNV Likely benign 344412 rs571277874 3:189613755-189613755 3:189895966-189895966
50 TP63 NM_003722.5(TP63):c.992+4A>CSNV Likely benign 344386 rs534974406 3:189585735-189585735 3:189867946-189867946

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 18)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.78 WNT10B TP63 DLX6 DLX5
2 multicellular organism development GO:0007275 9.76 WNT10B TP63 DLX6 DLX5
3 interleukin-1-mediated signaling pathway GO:0070498 9.58 SEM1 BTRC
4 SCF-dependent proteasomal ubiquitin-dependent protein catabolic process GO:0031146 9.57 SEM1 BTRC
5 regulation of mitotic cell cycle phase transition GO:1901990 9.56 SEM1 BTRC
6 NIK/NF-kappaB signaling GO:0038061 9.55 SEM1 BTRC
7 roof of mouth development GO:0060021 9.54 DLX6 DLX5
8 skeletal system development GO:0001501 9.54 TP63 DLX6 DLX5
9 cellular response to organic cyclic compound GO:0071407 9.52 WNT10B BTRC
10 inner ear morphogenesis GO:0042472 9.51 DLX6 DLX5
11 positive regulation of canonical Wnt signaling pathway GO:0090263 9.5 WNT10B SEM1 DLX5
12 positive regulation of epithelial cell proliferation GO:0050679 9.49 DLX6 DLX5
13 positive regulation of osteoblast differentiation GO:0045669 9.43 WNT10B TP63
14 head development GO:0060322 9.4 DLX6 DLX5
15 epithelial cell differentiation GO:0030855 9.33 TP63 DLX6 DLX5
16 embryo development GO:0009790 9.26 DLX6 DLX5
17 embryonic limb morphogenesis GO:0030326 9.13 TP63 DLX6 DLX5
18 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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