Aliases & Classifications for Split Hand

MalaCards integrated aliases for Split Hand:

Name: Split Hand 55 28
Ectrodactyly of Hand 55

Classifications:



External Ids:

Orphanet 55 ORPHA294992
ICD10 via Orphanet 33 Q71.6

Summaries for Split Hand

MalaCards based summary : Split Hand, also known as ectrodactyly of hand, is related to split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive and split-hand/foot malformation 1. 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 Acetylcholine and abobotulinumtoxinA have been mentioned in the context of this disorder. Affiliated tissues include bone, skin 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 90)
# Related Disease Score Top Affiliating Genes
1 split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive 33.7 DLX5 SEM1
2 split-hand/foot malformation 1 33.5 DLX5 SEM1 TP63
3 split-hand/foot malformation 2 32.1 DLX5 FBXW4 SEM1 TP63 WNT10B
4 split-hand/foot malformation 3 32.1 DLX5 FBXW4 SEM1 TP63 WNT10B
5 split-hand/foot malformation 5 32.1 DLX5 FBXW4 SEM1 TP63 WNT10B
6 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 31.9 TP63 WNT10B
7 split-hand/foot malformation 4 31.9 DLX5 FBXW4 SEM1 TP63 WNT10B
8 split hand-split foot malformation 31.8 DLX5 FBXW4 SEM1 TP63 WNT10B
9 split hand-foot malformation 31.2 BHLHA9 DLX5 FBXW4 SEM1 TP63 WNT10B
10 split-hand/foot malformation 6 31.1 BHLHA9 DLX5 FBXW4 SEM1 TP63 WNT10B
11 split foot 29.7 DLX5 FBXW4 SEM1 TP63
12 chromosome 2q35 duplication syndrome 29.4 FBXW4 TP63
13 split-hand/foot malformation with long bone deficiency 1 12.5
14 split hand split foot nystagmus 12.4
15 split hand/foot malformation x-linked 12.4
16 split hand urinary anomalies spina bifida 12.4
17 split-hand with congenital nystagmus, fundal changes, and cataracts 12.3
18 split-hand with obstructive uropathy, spina bifida, and diaphragmatic defects 12.3
19 split hand split foot malformation autosomal recessive 12.2
20 split-hand/foot malformation with long bone deficiency 2 12.1
21 split hand, unilateral 12.0
22 split hand, bilateral 12.0
23 split-hand and split-foot with hypodontia 12.0
24 chromosome 17p13.3, telomeric, duplication syndrome 11.9
25 acrorenal-mandibular syndrome 11.7
26 tibial aplasia-ectrodactyly syndrome 11.6
27 limb-mammary syndrome 11.2
28 brachydactyly-ectrodactyly with fibular aplasia or hypoplasia 11.0
29 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 11.0
30 acrofacial dysostosis 1, nager type 11.0
31 hartsfield syndrome 11.0
32 pfeiffer tietze welte syndrome 11.0
33 ectrodactyly and ectodermal dysplasia without cleft lip/palate 10.9
34 fibular aplasia, tibial campomelia, and oligosyndactyly syndrome 10.9
35 microphthalmia, syndromic 8 10.9
36 lateral sclerosis 10.1
37 amyotrophic lateral sclerosis 1 10.1
38 paranoid personality disorder 9.9 DLX5 SEM1
39 hypogonadotropism 9.9
40 hypogonadotropic hypogonadism 9.9
41 mondini dysplasia 9.9
42 tibial hemimelia 9.9
43 hypogonadism 9.9
44 ectodermal dysplasia 9.9
45 branchiootic syndrome 1 9.8
46 wolf-hirschhorn syndrome 9.8
47 hypospadias 9.8
48 neural tube defects 9.8
49 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.8
50 orofacial cleft 9.7 DLX5 TP63

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:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 8.92 FBXW4 TP63 BHLHA9 DLX5

Drugs & Therapeutics for Split Hand

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

(show all 20)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved Phase 1 51-84-3 187
2 abobotulinumtoxinA Phase 1
3 Cholinergic Agents Phase 1
4 Neuromuscular Agents Phase 1
5 Neurotransmitter Agents Phase 1
6 onabotulinumtoxinA Phase 1
7 Peripheral Nervous System Agents Phase 1
8 Botulinum Toxins Phase 1
9 Botulinum Toxins, Type A Phase 1
10
Hyaluronic acid Approved, Vet_approved 9004-61-9 53477741 24759
11
Lidocaine Approved, Vet_approved 137-58-6 3676
12 Central Nervous System Depressants
13 Adjuvants, Immunologic
14 Sodium Channel Blockers
15 Anesthetics
16 Viscosupplements
17 Anesthetics, Local
18 Diuretics, Potassium Sparing
19 Anti-Arrhythmia Agents
20 Protective Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Use of Microneedles With Topical Botulinum Toxin for Treatment of Palmar Hyperhidrosis Completed NCT03203174 Phase 1 Botulinum Toxin Type A
2 Effectiveness and Safety of Restylane Lyft With Lidocaine in the Dorsal Hand Completed NCT02650921
3 Safety and Efficacy of Restylane Vital for Skin Rejuvenation of Dorsal Hands Completed NCT02545608

Search NIH Clinical Center for Split Hand

Genetic Tests for Split Hand

Genetic tests related to Split Hand:

# Genetic test Affiliating Genes
1 Split Hand 28

Anatomical Context for Split Hand

MalaCards organs/tissues related to Split Hand:

38
Bone, Skin, Heart

Publications for Split Hand

Articles related to Split Hand:

(show top 50) (show all 200)
# Title Authors Year
1
Split hand-foot malformation and a novel WNT10B mutation. ( 29427788 )
2018
2
Randomized, Double-Blinded, Sham-Controlled, Split-Hand Trial Evaluating the Safety and Efficacy of Triamcinolone Acetate Injection After Calcium Hydroxylapatite Volume Restoration of the Dorsal Hand. ( 29406482 )
2018
3
Homozygous sequence variants in the WNT10B gene underlie split hand/foot malformation. ( 29384555 )
2018
4
Microduplications of 10q24 Detected in Two Chinese Patients with Split-hand/foot Malformation Type 3. ( 29263051 )
2017
5
Terminal latency abnormality in amyotrophic lateral sclerosis without split hand syndrome. ( 28188450 )
2017
6
A Novel Heterozygous Intragenic Sequence Variant in DLX6 Probably Underlies First Case of Autosomal Dominant Split-Hand/Foot Malformation Type 1. ( 28611547 )
2017
7
Copy-number variants and candidate gene mutations in isolated split hand/foot malformation. ( 28539665 )
2017
8
Split hand/foot malformation: a potential clue to underlying FGFR1 mutation in patients with isolated congenital hypogonadotropic hypogonadism. ( 29146774 )
2017
9
Molecular Genetic Characterization of a Chinese Family with Severe Split Hand/Foot Malformation. ( 28422522 )
2017
10
A New Split Hand/Foot Malformation with Long Bone Deficiency Familial Case. ( 28496997 )
2017
11
Split-Hand Malformation in a 4-Year-Old Child. ( 28840051 )
2017
12
FGFR1 Analyses in Four Patients with Hypogonadotropic Hypogonadism with Split-Hand/Foot Malformation: Implications for the Promoter Region. ( 28087897 )
2017
13
Split hand index and ulnar to median ratio in Hirayama disease and amyotrophic lateral sclerosis. ( 28616933 )
2017
14
First direct evidence of involvement of a homozygous loss-of-function variant in the EPS15L1 gene underlying split-hand/split-foot malformation. ( 29023680 )
2017
15
Split Hand Syndrome and Syndrome of Inappropriate Antidiuretic Hormone. ( 26763519 )
2016
16
Split Hand/Foot Malformation Associated with 7q21.3 Microdeletion: A Case Report. ( 27022330 )
2016
17
A Novel Heterozygous Frameshift Mutation in DLX5 Gene Underlies Isolated Split Hand Foot Malformation type 1. ( 27085093 )
2016
18
Absence of split hand in the flail arm variant of ALS. ( 27157380 )
2016
19
Recurrence of split hand/foot malformation, cleft lip/palate, and severe urogenital abnormalities due to germline mosaicism for TP63 mutation. ( 27351625 )
2016
20
Phenotypic subregions within the split-hand/foot malformation 1 locus. ( 26839112 )
2016
21
Split Hand / Foot Malformation Syndrome with Cerebral Degeneration. ( 27730782 )
2016
22
Split hand/foot malformation genetics supports the chromosome 7 copy segregation mechanism for human limb development. ( 27821526 )
2016
23
Reverse split hand syndrome: Dissociated intrinsic hand muscle atrophy pattern in Hirayama disease/brachial monomelic amyotrophy. ( 27575868 )
2016
24
Dlx5 Homeodomain:DNA Complex: Structure, Binding and Effect of Mutations Related to Split Hand and Foot Malformation Syndrome. ( 26829219 )
2016
25
Split-hand/feet malformation: A rare syndrome. ( 27453866 )
2016
26
Mechanisms for the Generation of Two Quadruplications Associated with Split-Hand Malformation. ( 26549411 )
2015
27
Derogatory nomenclature is still being used: The example of split hand/foot. ( 25739702 )
2015
28
Split hand/foot malformations with microdeletions at chromosomes 7 and 19 detected using array comparative genomic hybridization. ( 25675931 )
2015
29
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
30
Split Hand Associated With Monomelic Amyotrophy: A Challenging Diagnosis. ( 26301379 )
2015
31
Selective chromatid segregation mechanism proposed for the human split hand/foot malformation development by chromosome 2 translocations: A perspective. ( 26477560 )
2015
32
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
33
Recurrent Streptococcus Pneumoniae Meningitis in a Child with Split Hand and Foot Malformation and Undiagnosed Mondini Dysplasia. ( 26640357 )
2015
34
Lou Gehrig and the ALS split hand. ( 26628488 )
2015
35
Split hand phenomenon in amyotrophic lateral sclerosis: A Motor unit number index study. ( 26509758 )
2015
36
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
37
ALS pathophysiology: Insights from the split-hand phenomenon. ( 24051071 )
2014
38
Prenatally diagnosed fetal split-hand/foot malformations often accompany a spectrum of anomalies. ( 24371113 )
2014
39
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
40
Novel homozygous mutations in the WNT10B gene underlying autosomal recessive split hand/foot malformation in three consanguineous families. ( 24211389 )
2014
41
Split-hand/feet malformation in three tamilian families and review of the reports from India. ( 24959024 )
2014
42
Cortical dysfunction underlies the development of the split-hand in amyotrophic lateral sclerosis. ( 24475241 )
2014
43
Reconstruction of bilateral tibial aplasia and split hand-foot syndrome in a father and daughter. ( 24647283 )
2014
44
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
45
A child with split-hand/foot associated with tibial hemimelia (SHFLD syndrome) and thrombocytopenia maps to chromosome region 17p13.3. ( 24838992 )
2014
46
Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations. ( 25394172 )
2014
47
Heterozygous DLX5 nonsense mutation associated with isolated split-hand/foot malformation with reduced penetrance and variable expressivity in two unrelated families. ( 25196357 )
2014
48
Absent expression of the osteoblast-specific maternally imprinted genes, DLX5 and DLX6, causes split hand/split foot malformation type I. ( 25332435 )
2014
49
Amyotrophic lateral sclerosis presenting as typical split hand syndrome. ( 25336559 )
2014
50
Split hand/foot malformation syndrome (SHFM): rare congenital orthopaedic disorder. ( 24973351 )
2014

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:

# 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:

# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....