MCID: SPL040
MIFTS: 36

Split Hand malady

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Split Hand

Summaries for Split Hand

MalaCards based summary : Split Hand is related to split hand foot malformation 1 and split hand foot malformation. An important gene associated with Split Hand is DLX5 (Distal-Less Homeobox 5), and among its related pathways/superpathways is Signaling pathways regulating pluripotency of stem cells. The drugs Tolonium Chloride and Photosensitizing Agents have been mentioned in the context of this disorder. Affiliated tissues include bone and heart, and related phenotype is limbs/digits/tail.

Related Diseases for Split Hand

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

(show top 50) (show all 77)
id Related Disease Score Top Affiliating Genes
1 split hand foot malformation 1 12.4
2 split hand foot malformation 12.4
3 split-hand/foot malformation 5 12.3
4 split-hand/foot malformation 1 with sensorineural hearing loss 12.3
5 split-hand/foot malformation 6 12.3
6 split-hand/foot malformation 4 12.3
7 split-hand/foot malformation with long bone deficiency 3 12.3
8 split-hand/foot malformation 3 12.2
9 split hand split foot nystagmus 12.2
10 split hand/foot malformation x-linked 12.2
11 split hand-split foot malformation 12.2
12 split hand split foot malformation autosomal recessive 12.1
13 split-hand/foot malformation with long bone deficiency 1 12.0
14 split-hand with obstructive uropathy, spina bifida, and diaphragmatic defects 12.0
15 split-hand with congenital nystagmus, fundal changes, and cataracts 12.0
16 split-hand/foot malformation with long bone deficiency 2 11.9
17 split hand urinary anomalies spina bifida 11.9
18 split hand, unilateral 11.9
19 split hand, bilateral 11.9
20 ectrodactyly with tibial hemimelia 11.2
21 eec syndrome 11.1
22 acrorenal-mandibular syndrome 11.0
23 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 10.9
24 brachydactyly-ectrodactyly with fibular aplasia or hypoplasia 10.9
25 acrofacial dysostosis 1, nager type 10.9
26 pfeiffer tietze welte syndrome 10.9
27 richieri costa da silva syndrome 10.9
28 hartsfield syndrome 10.9
29 split foot 10.5
30 lateral sclerosis 10.0
31 hypomyelinating leukodystrophy 13 9.9 TP63 WNT10B
32 aica-ribosiduria due to atic deficiency 9.9 FBXW4 TP63
33 tongue disease 9.9 DLX5 SEM1
34 3mc syndrome 1 9.8 DLX5 SEM1 TP63
35 syndactyly 9.8
36 mondini dysplasia 9.8
37 ectodermal dysplasia 9.8
38 tibial hemimelia 9.8
39 hypospadias 9.7
40 wolf-hirschhorn syndrome 9.7
41 hypogonadism 9.7
42 hypogonadotropism 9.7
43 hypoparathyroidism 9.6 BHLHA9 FBXW4 TP63
44 focal dermal hypoplasia 9.6
45 congenital nystagmus 9.6
46 buphthalmos 9.6
47 choroiditis 9.6
48 polydactyly 9.6
49 limb-mammary syndrome 9.6
50 cornelia de lange syndrome 9.6

Graphical network of the top 20 diseases related to Split Hand:



Diseases related to Split Hand

Symptoms & Phenotypes for Split Hand

MGI Mouse Phenotypes related to Split Hand:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 8.92 TP63 BHLHA9 DLX5 FBXW4

Drugs & Therapeutics for Split Hand

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

(show top 50) (show all 67)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Tolonium Chloride Phase 4
2 Photosensitizing Agents Phase 4,Phase 2,Phase 3
3
Dopamine Approved Phase 3 51-61-6, 62-31-7 681
4
Methylphenidate Approved, Investigational Phase 3 113-45-1 4158
5
Cyclosporine Approved, Investigational, Vet_approved Phase 3,Phase 2 79217-60-0, 59865-13-3 5284373 6435893
6
Estradiol Approved, Investigational, Vet_approved Phase 3 50-28-2 5757 53477783
7
Aminolevulinic acid Approved Phase 2, Phase 3 106-60-5 137
8
Miconazole Approved, Investigational, Vet_approved Phase 3,Phase 2 22916-47-8 4189
9
Macitentan Approved Phase 3 441798-33-0
10
Isotretinoin Approved Phase 3 4759-48-2 5538 5282379
11
Alitretinoin Approved, Investigational Phase 3 5300-03-8 444795
12
Tretinoin Approved, Investigational, Nutraceutical Phase 3 302-79-4 5538
13 Neurotransmitter Agents Phase 3
14 Neurotransmitter Uptake Inhibitors Phase 3
15 Dopamine Agents Phase 3
16 Dopamine Uptake Inhibitors Phase 3
17 Central Nervous System Stimulants Phase 3
18 Estradiol valerate Phase 3 979-32-8
19 Contraceptive Agents Phase 3
20 Dermatologic Agents Phase 2, Phase 3
21 Hormone Antagonists Phase 3
22 Anesthetics Phase 2, Phase 3
23 Hormones Phase 3
24 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
25 Endothelin A Receptor Antagonists Phase 3
26 Endothelin Receptor Antagonists Phase 3
27 Estradiol 17 beta-cypionate Phase 3
28 Estradiol 3-benzoate Phase 3
29 Estrogens Phase 3
30 Polyestradiol phosphate Phase 3
31 Anti-Infective Agents Phase 3,Phase 2
32 Immunosuppressive Agents Phase 3,Phase 2
33 Antifungal Agents Phase 3,Phase 2
34 Methyl 5-aminolevulinate Phase 2, Phase 3
35 Antirheumatic Agents Phase 3,Phase 2
36 Calcineurin Inhibitors Phase 3,Phase 2
37 Keratolytic Agents Phase 3
38 Bone Density Conservation Agents Phase 2, Phase 3
39 Calcium, Dietary Phase 2, Phase 3
40
Zinc Approved Phase 1, Phase 2 7440-66-6 32051 23994
41 insulin Phase 1, Phase 2
42 Pharmaceutical Solutions Phase 1, Phase 2
43 Hypoglycemic Agents Phase 1, Phase 2
44 Insulin, Globin Zinc Phase 1, Phase 2
45 Grape Nutraceutical Phase 1
46 Potassium Supplement Nutraceutical Phase 1
47
Hyaluronic acid Approved, Vet_approved 9004-61-9 53477741 24759
48
Lidocaine Approved, Vet_approved 137-58-6 3676
49
Benzocaine Approved 1994-09-7, 94-09-7 2337
50 tannic acid Approved, Nutraceutical

Interventional clinical trials:

(show all 35)
id Name Status NCT ID Phase
1 Photodynamic Therapy During Supportive Periodontal Therapy Completed NCT02666573 Phase 4
2 Efficacy Study Comparing Hand-Assisted Laparoscopic and Mini-Incision Muscle Splitting Incision Living Donor Nephrectomy Unknown status NCT00258986 Phase 3
3 A Study Comparing Long-acting Methylphenidate (ConcertaTM) vs. Placebo in the Treatment of Memory Loss Due to HIV Unknown status NCT01599975 Phase 3
4 Fractional CO2 Laser Assisted Photodynamic Therapy Completed NCT01260987 Phase 2, Phase 3
5 Comparison of Efficacy, Safety and Tolerability of Two Different 810 nm Diode Lasers for Hair Reduction Completed NCT01212172 Phase 3
6 Trial of Zesteem (Estradiol) in Healing of Split Thickness Skin Graft Donor Sites Completed NCT00426972 Phase 3
7 Macitentan for the Treatment of Digital Ulcers in Systemic Sclerosis Patients Completed NCT01474109 Phase 3
8 Alitretinoin vs Cyclosporine in Severe Recurrent Vesicular Hand Eczema Recruiting NCT03026946 Phase 3
9 Comparison Between Biodentine and Calcium Hydroxide in the Indirect Pulp Treatment on Primary Teeth Active, not recruiting NCT02799927 Phase 2, Phase 3
10 Microdermabrasion for Acne Completed NCT00355485 Phase 2
11 Topical Cyclosporine Suspension for the Treatment of Brittle Nails Completed NCT01064830 Phase 2
12 Intranasal Insulin for the Treatment of HAND Recruiting NCT03081117 Phase 1, Phase 2
13 A Study Evaluating UCART019 in Patients With Relapsed or Refractory CD19+ Leukemia and Lymphoma Not yet recruiting NCT03166878 Phase 1, Phase 2
14 A Pilot Study of Potassium Supplementation for Adult Patients With Rheumatoid Arthritis Completed NCT00461448 Phase 1
15 Phase I Study for Autologous Dermal Substitutes and Dermo-epidermal Skin Substitutes for Treatment of Skin Defects Recruiting NCT02145130 Phase 1
16 Epidermal Delivery of Ani-Aging Ingredients Unknown status NCT01847066
17 Effectiveness and Safety of Restylane Lyft With Lidocaine in the Dorsal Hand Completed NCT02650921
18 Dentin Hypersensitivity Following Non-surgical Periodontal Therapy With Hand or Ultrasonic Instruments Completed NCT01427764
19 Neurodevelopment Outcomes Following Severe Hand Foot and Mouth Disease in Vietnam Completed NCT02066714
20 Combined Use of Er:YAG and Nd:YAG Laser Completed NCT02851823
21 A Study to Treat Patients With Edentulous Mandibles With Two Straumann 3.3mm Diameter Bone Level Implants Completed NCT00905840
22 Pain Relief During Photodynamic Therapy for Actinic Keratoses With a New Irradiation Protocol Completed NCT02644187
23 Clinical Comparative Trial of a Modified Polyurethane Dressing and Aquacel Completed NCT01055925
24 Effect of Around the Clock Intensivist Coverage on Intensive Care Unit (ICU) Outcomes Completed NCT01146691
25 Money or Knowledge? Behavioral Aspects of Malnutrition Completed NCT02903641
26 Orthopedic Study of the Aircast StabilAir Wrist Fracture Brace Completed NCT00587795
27 The Use of Integra in Coverage of Radial Forearm Free Flap Donor Site Defect Recruiting NCT02980601
28 Preventive Effect of EGF Cream for Cutaneous Adverse Event of EGFR Inhibitors Recruiting NCT03051880
29 Efficacy of External Cold and a Vibrating Device in Reducing Discomfort of Dental Injections in Children Recruiting NCT02675387
30 Internal Plate Fixation vs. Plaster in Complete Articular Distal Radial Fractures Recruiting NCT02651779
31 Safety and Efficacy of Restylane Vital for Skin Rejuvenation of Dorsal Hands Active, not recruiting NCT02545608
32 A Slit Face Trial Using Micro-injections of Transparent Hyaluronic Acid Gel for Rejuvenation of the Cheek Active, not recruiting NCT02679924
33 Simple Decompression Versus Anterior Transposition of the Ulnar Nerve Active, not recruiting NCT01051869
34 Immobilization of Postoperative Distal Radius Fractures Enrolling by invitation NCT02802774
35 Alefacept and Allogeneic Hematopoietic Stem Cell Transplantation Terminated NCT01319851

Search NIH Clinical Center for Split Hand

Genetic Tests for Split Hand

Genetic tests related to Split Hand:

id Genetic test Affiliating Genes
1 Split Hand 29

Anatomical Context for Split Hand

MalaCards organs/tissues related to Split Hand:

39
Bone, Heart

Publications for Split Hand

Articles related to Split Hand:

(show top 50) (show all 187)
id Title Authors Year
1
FGFR1 Analyses in Four Patients with Hypogonadotropic Hypogonadism with Split-Hand/Foot Malformation: Implications for the Promoter Region. ( 28087897 )
2017
2
Dlx5 Homeodomain:DNA Complex: Structure, Binding and Effect of Mutations Related to Split Hand and Foot Malformation Syndrome. ( 26829219 )
2016
3
Split Hand / Foot Malformation Syndrome with Cerebral Degeneration. ( 27730782 )
2016
4
Phenotypic subregions within the split-hand/foot malformation 1 locus. ( 26839112 )
2016
5
A Novel Heterozygous Frameshift Mutation in DLX5 Gene Underlies Isolated Split Hand Foot Malformation type 1. ( 27085093 )
2016
6
Split Hand Syndrome and Syndrome of Inappropriate Antidiuretic Hormone. ( 26763519 )
2016
7
Recurrence of split hand/foot malformation, cleft lip/palate, and severe urogenital abnormalities due to germline mosaicism for TP63 mutation. ( 27351625 )
2016
8
Reverse split hand syndrome: Dissociated intrinsic hand muscle atrophy pattern in Hirayama disease/brachial monomelic amyotrophy. ( 27575868 )
2016
9
Split-hand/feet malformation: A rare syndrome. ( 27453866 )
2016
10
Absence of split hand in the flail arm variant of ALS. ( 27157380 )
2016
11
Split Hand/Foot Malformation Associated with 7q21.3 Microdeletion: A Case Report. ( 27022330 )
2016
12
Split hand/foot malformation genetics supports the chromosome 7 copy segregation mechanism for human limb development. ( 27821526 )
2016
13
Split hand/foot malformations with microdeletions at chromosomes 7 and 19 detected using array comparative genomic hybridization. ( 25675931 )
2015
14
Lou Gehrig and the ALS split hand. ( 26628488 )
2015
15
Derogatory nomenclature is still being used: The example of split hand/foot. ( 25739702 )
2015
16
Identification of Critical Region Responsible for Split Hand/Foot Malformation Type 3 (SHFM3) Phenotype through Systematic Review of Literature and Mapping of Breakpoints Using Microarray Data. ( 27600068 )
2015
17
Selective chromatid segregation mechanism proposed for the human split hand/foot malformation development by chromosome 2 translocations: A perspective. ( 26477560 )
2015
18
Split hand phenomenon in amyotrophic lateral sclerosis: A Motor unit number index study. ( 26509758 )
2015
19
Split Hand Associated With Monomelic Amyotrophy: A Challenging Diagnosis. ( 26301379 )
2015
20
7q21.3 Deletion involving enhancer sequences within the gene DYNC1I1 presents with intellectual disability and split hand-split foot malformation with decreased penetrance. ( 26075025 )
2015
21
Array comparative genomic hybridization characterization of multiple interstitial deletions involving 7p22.1, 7q11.23, 7q21.3-q22.1, 19p13.3-p12, and 19q13.11-q13.43 in a fetus associated with split hand-foot malformation. Role of EPS15L1 in pathogenesis. ( 26384072 )
2015
22
Mechanisms for the Generation of Two Quadruplications Associated with Split-Hand Malformation. ( 26549411 )
2015
23
Recurrent Streptococcus Pneumoniae Meningitis in a Child with Split Hand and Foot Malformation and Undiagnosed Mondini Dysplasia. ( 26640357 )
2015
24
Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families. ( 25231166 )
2014
25
Amyotrophic lateral sclerosis presenting as typical split hand syndrome. ( 25336559 )
2014
26
Exome sequencing reveals a heterozygous DLX5 mutation in a Chinese family with autosomal-dominant split-hand/foot malformation. ( 24496061 )
2014
27
Split-hand/feet malformation in three tamilian families and review of the reports from India. ( 24959024 )
2014
28
A child with split-hand/foot associated with tibial hemimelia (SHFLD syndrome) and thrombocytopenia maps to chromosome region 17p13.3. ( 24838992 )
2014
29
Reconstruction of bilateral tibial aplasia and split hand-foot syndrome in a father and daughter. ( 24647283 )
2014
30
Absent expression of the osteoblast-specific maternally imprinted genes, DLX5 and DLX6, causes split hand/split foot malformation type I. ( 25332435 )
2014
31
Split hand/foot malformation syndrome (SHFM): rare congenital orthopaedic disorder. ( 24973351 )
2014
32
Cortical dysfunction underlies the development of the split-hand in amyotrophic lateral sclerosis. ( 24475241 )
2014
33
Heterozygous DLX5 nonsense mutation associated with isolated split-hand/foot malformation with reduced penetrance and variable expressivity in two unrelated families. ( 25196357 )
2014
34
Novel homozygous mutations in the WNT10B gene underlying autosomal recessive split hand/foot malformation in three consanguineous families. ( 24211389 )
2014
35
Next generation sequencing of chromosomal rearrangements in patients with split-hand/split-foot malformation provides evidence for DYNC1I1 exonic enhancers of DLX5/6 expression in humans. ( 24459211 )
2014
36
Japanese founder duplications/triplications involving BHLHA9 are associated with split-hand/foot malformation with or without long bone deficiency and Gollop-Wolfgang complex. ( 25351291 )
2014
37
Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations. ( 25394172 )
2014
38
ALS pathophysiology: Insights from the split-hand phenomenon. ( 24051071 )
2014
39
Prenatally diagnosed fetal split-hand/foot malformations often accompany a spectrum of anomalies. ( 24371113 )
2014
40
Cortical hyperexcitability and the split-hand plus phenomenon: pathophysiological insights in ALS. ( 24555863 )
2014
41
Split-hand plus sign in ALS: differential involvement of the flexor pollicis longus and intrinsic hand muscles. ( 23121291 )
2013
42
Anorectal malformation associated with a mutation in the P63 gene in a family with split hand-foot malformation. ( 23736768 )
2013
43
A rare case of split hand/foot malformation with sensorineural hearing loss and Mondini dysplasia. ( 23168687 )
2013
44
Cortical excitability differences in hand muscles follow a split-hand pattern in healthy controls. ( 24037729 )
2013
45
Clinical, genetic, and molecular aspects of split-hand/foot malformation: an update. ( 24115638 )
2013
46
Split hand/foot malformation with long-bone deficiency and BHLHA9 duplication: report of 13 new families. ( 23790188 )
2013
47
Identification of the deleted in split hand/split foot 1 protein as a novel biomarker for human cervical cancer. ( 23024267 )
2013
48
Split-hand/foot malformation - molecular cause and implications in genetic counseling. ( 24163146 )
2013
49
Split-hand index for the diagnosis of amyotrophic lateral sclerosis. ( 23017503 )
2013
50
Split hand syndrome in amyotrophic lateral sclerosis: different excitability changes in the thenar and hypothenar motor axons. ( 23467416 )
2013

Variations for Split Hand

Expression for Split Hand

Search GEO for disease gene expression data for Split Hand.

Pathways for Split Hand

Pathways related to Split Hand according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 10.77 DLX5 WNT10B

GO Terms for Split Hand

Biological processes related to Split Hand according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 skeletal system development GO:0001501 9.46 DLX5 TP63
2 epithelial cell differentiation GO:0030855 9.43 DLX5 TP63
3 SCF-dependent proteasomal ubiquitin-dependent protein catabolic process GO:0031146 9.4 FBXW4 SEM1
4 positive regulation of osteoblast differentiation GO:0045669 9.37 TP63 WNT10B
5 multicellular organism development GO:0007275 9.35 BHLHA9 DLX5 FBXW4 TP63 WNT10B
6 positive regulation of canonical Wnt signaling pathway GO:0090263 9.33 DLX5 SEM1 WNT10B
7 positive regulation of mesenchymal cell proliferation GO:0002053 9.32 FBXW4 TP63
8 anatomical structure formation involved in morphogenesis GO:0048646 9.26 DLX5 TP63
9 embryonic limb morphogenesis GO:0030326 8.8 DLX5 FBXW4 TP63

Sources for Split Hand

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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