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MCID: CHR619
MIFTS: 60

Chromosome 2q35 Duplication Syndrome

Categories: Bone diseases, Fetal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Chromosome 2q35 Duplication Syndrome

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MalaCards integrated aliases for Chromosome 2q35 Duplication Syndrome:

Name: Chromosome 2q35 Duplication Syndrome 58 12
Syndactyly 12 77 54 38 30 56 6 45 15
Syndactyly Type 1 54 60 30
Syndactyly, Type I 58 74
Zygodactyly 58 54
Sdty1 58 54
Sd1 58 54
Syndactyly, Type 1, with or Without Craniosynostosis 58
Craniosynostosis, Philadelphia Type 60
Syndactyly, Type I; Sdty1 58
Non-Syndromic Syndactyly 54
Syndactyly, Type 1 13
Webbing of Digits 12
Symphalangism 12
Symphalangy 12

Characteristics:

Orphanet epidemiological data:

60
craniosynostosis, philadelphia type
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;
syndactyly type 1
Inheritance: Autosomal dominant; Prevalence: 1-5/10000 (Europe); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
incidence approximately 2-3/10,000 newborns
minimum region of duplication is a 9.1-kb region located 40kb 5-prime of the ihh gene


HPO:

33
chromosome 2q35 duplication syndrome:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases
Anatomical: Bone diseases
See all MalaCards categories (disease lists)
ICD10: 34 35
Orphanet: 60  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:11193
OMIM 58 185900
KEGG 38 H01095
ICD9CM 36 755.1
MeSH 45 D013576
NCIt 51 C87125
SNOMED-CT 69 75352001
ICD10 34 Q70 Q70.9
ICD10 via Orphanet 35 Q70.0 Q70.1 Q70.2 more
UMLS via Orphanet 75 C1832590 C1861380
MedGen 43 C1861380
Sources

Summaries for Chromosome 2q35 Duplication Syndrome

About this section
NIH Rare Diseases : 54 Syndactyly is a term used to describe webbed or conjoined digits (fingers or toes). It may occur as an isolated finding or may be a symptom of a genetic syndrome. There are over 300 genetic syndromes that involve syndactyly, such as Apert syndrome and Saethre-Chotzen syndrome. There are many different ways to classify or group non-syndromic (isolated) syndactyly. Presently, researchers classify the different types of syndactyly based on how severe the syndactyly is, which digits are involved, how the trait appears to run through families, and whether an underlying genemutation has been identified. Using this system, nine different non-syndromic types of syndactyly have been defined.  Syndactyly is caused by a mixture of genetic and environmental factors. In about 10-40% of individuals with syndactyly, there is a family history. Syndactyly can run through families in many different ways, depending on the underlying cause. When isolated, it can be inherited in an autosomal dominant, autosomal recessive, or X-linked recessive manner. Treatment usually involves surgery to separate the digits.

MalaCards based summary : Chromosome 2q35 Duplication Syndrome, also known as syndactyly, is related to apert syndrome and fraser syndrome 1. An important gene associated with Chromosome 2q35 Duplication Syndrome is CUP2Q35 (Syndactyly, Type I), and among its related pathways/superpathways is Gap junction. The drugs Interferon beta-1a and Vitamin D have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and heart, and related phenotypes are finger syndactyly and long palpebral fissure

Disease Ontology : 12 A synostosis that results in the fusion of two or more digits.

Wikipedia : 77 Syndactyly is a condition wherein two or more digits are fused together. It occurs normally in some... more...

Description from OMIM: 185900
Sources

Related Diseases for Chromosome 2q35 Duplication Syndrome

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Diseases related to Chromosome 2q35 Duplication Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 354)
# Related Disease Score Top Affiliating Genes
1 apert syndrome 33.2 FGFR2 FGFR3 GLI3
2 fraser syndrome 1 32.9 FRAS1 FREM1 FREM2 GRIP1
3 split-hand/foot malformation 6 31.6 BHLHA9 FBXW4 TP63
4 lacrimoauriculodentodigital syndrome 31.5 FGFR2 FGFR3 TP63
5 split-hand/foot malformation 5 31.5 FBXW4 HOXD13 TP63
6 split hand-foot malformation 31.4 BHLHA9 FBXW4 TP63
7 cryptophthalmos 30.6 FRAS1 FREM1 FREM2 GRIP1
8 tracheoesophageal fistula 30.2 GLI3 HOXD13 NOG
9 synostosis 29.8 BHLHA9 FGFR2 FGFR3 GLI3 NOG
10 renal hypodysplasia/aplasia 1 29.7 FRAS1 FREM1 FREM2 GRIP1
11 autosomal dominant disease 29.6 FGFR2 FGFR3 LMBR1
12 syndactyly, type iii 12.7
13 syndactyly, type v 12.6
14 cenani-lenz syndactyly syndrome 12.6
15 syndactyly, type iv 12.6
16 brachydactyly-syndactyly syndrome 12.5
17 toe syndactyly, telecanthus, and anogenital and renal malformations 12.5
18 symphalangism, proximal, 1b 12.5
19 ectodermal dysplasia-syndactyly syndrome 1 12.5
20 syndactyly-polydactyly-earlobe syndrome 12.4
21 symphalangism, proximal, 1a 12.4
22 blepharophimosis with ptosis, syndactyly, and short stature 12.3
23 symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch 12.2
24 ectodermal dysplasia-syndactyly syndrome 2 12.2
25 syndactyly type 6 12.2
26 synpolydactyly 12.1
27 coronal synostosis, syndactyly and jejunal atresia 12.1
28 multiple synostoses syndrome 1 12.1
29 thai symphalangism syndrome 12.1
30 ectodermal dysplasia with mental retardation and syndactyly 12.1
31 brachydactyly-distal symphalangism syndrome 12.0
32 eyebrows, duplication of, with stretchable skin and syndactyly 12.0
33 aphalangia, partial, with syndactyly and duplication of metatarsal iv 12.0
34 syndactyly-nystagmus syndrome due to 2q31.1 microduplication 12.0
35 synpolydactyly 1 12.0
36 symphalangism of toes 12.0
37 symphalangism, c. s. lewis type 12.0
38 symphalangism brachydactyly craniosynostosis 12.0
39 symphalangism short stature accessory testis 12.0
40 tracheoesophageal fistula symphalangism 12.0
41 timothy syndrome 12.0
42 cleft lip palate oligodontia syndactyly pili torti 12.0
43 syndactyly ectodermal dysplasia cleft lip palate hand foot 12.0
44 tricho odonto onychodysplasia syndactyly dominant type 12.0
45 fbln1-related developmental delay-central nervous system anomaly-syndactyly syndrome 12.0
46 zlotogora syndrome 11.9
47 cleft lip/palate-ectodermal dysplasia syndrome 11.9
48 greig cephalopolysyndactyly syndrome 11.9
49 sclerosteosis 11.8
50 saethre-chotzen syndrome 11.8

Graphical network of the top 20 diseases related to Chromosome 2q35 Duplication Syndrome:



Diseases related to Chromosome 2q35 Duplication Syndrome
Sources

Symptoms & Phenotypes for Chromosome 2q35 Duplication Syndrome

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Human phenotypes related to Chromosome 2q35 Duplication Syndrome:

60 33 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 finger syndactyly 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0006101
2 long palpebral fissure 60 33 hallmark (90%) Very frequent (99-80%) HP:0000637
3 craniosynostosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0001363
4 toe syndactyly 60 33 hallmark (90%) Very frequent (99-80%) HP:0001770
5 symphalangism affecting the phalanges of the hand 60 33 occasional (7.5%) Occasional (29-5%) HP:0009773
6 sagittal craniosynostosis 33 occasional (7.5%) HP:0004442
7 2-3 toe syndactyly 33 HP:0004691
8 cutaneous syndactyly 33 HP:0012725
9 3-4 finger syndactyly 33 HP:0006097
10 distal symphalangism of hands 33 HP:0001204

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Head:
acrocephalosyndactyly (in some patients)
sagittal craniosynostosis (in some patients)

Skeletal Hands:
cutaneous syndactyly of fingers, usually 3rd and 4th fingers
no bony syndactyly
synostosis of distal phalanges

Skeletal Skull:
sagittal craniosynostosis (in some patients)

Skeletal Feet:
no bony syndactyly
cutaneous syndactyly of toes, usually 2nd and 3rd toes

Clinical features from OMIM:

185900

MGI Mouse Phenotypes related to Chromosome 2q35 Duplication Syndrome:

47 (show all 18)
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 10.39 CACNA1C CCNQ FBN2 FBXW4 FGFR2 FGFR3
2 limbs/digits/tail MP:0005371 10.38 BHLHA9 FBN2 FBXW4 FGFR2 FGFR3 FRAS1
3 growth/size/body region MP:0005378 10.37 FBN2 FGFR2 FGFR3 FRAS1 FREM1 FREM2
4 cardiovascular system MP:0005385 10.32 CACNA1C FBN2 FGFR2 FRAS1 FREM2 GJA1
5 integument MP:0010771 10.31 CACNA1C FGFR2 FGFR3 FRAS1 FREM1 FREM2
6 embryo MP:0005380 10.29 CACNA1C FBXW4 FGFR2 FREM2 GJA1 GLI3
7 craniofacial MP:0005382 10.27 FBN2 FGFR2 FGFR3 FRAS1 FREM1 FREM2
8 digestive/alimentary MP:0005381 10.21 FGFR2 FGFR3 FRAS1 FREM1 GLI3 HOXA13
9 endocrine/exocrine gland MP:0005379 10.19 CACNA1C FGFR2 FREM1 GJA1 GLI3 HOXA13
10 muscle MP:0005369 10.09 CACNA1C FBN2 FGFR2 FREM1 FREM2 GJA1
11 renal/urinary system MP:0005367 10.06 FGFR2 FGFR3 FRAS1 FREM1 FREM2 GLI3
12 hearing/vestibular/ear MP:0005377 10.05 FBN2 FGFR2 FGFR3 FREM2 GJA1 GLI3
13 reproductive system MP:0005389 10.03 CACNA1C FBN2 FGFR2 FGFR3 FREM1 FREM2
14 no phenotypic analysis MP:0003012 10.01 FBXW4 FGFR2 FGFR3 FRAS1 GJA1 GLI3
15 normal MP:0002873 9.97 FGFR2 FGFR3 FREM1 GJA1 GLI3 LMBR1
16 respiratory system MP:0005388 9.85 FBN2 FGFR2 FGFR3 FRAS1 FREM1 FREM2
17 skeleton MP:0005390 9.8 FBN2 FBXW4 FGFR2 FGFR3 FRAS1 FREM1
18 vision/eye MP:0005391 9.44 FBN2 FGFR2 FGFR3 FRAS1 FREM1 FREM2
Sources

Drugs & Therapeutics for Chromosome 2q35 Duplication Syndrome

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Drugs for Chromosome 2q35 Duplication Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 50)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Interferon beta-1a Approved, Investigational Phase 2 145258-61-3 6438354
2
Vitamin D Approved, Nutraceutical, Vet_approved Phase 2 1406-16-2
3
Calcifediol Approved, Nutraceutical Phase 2 19356-17-3 5283731 6433735
4 Bone Density Conservation Agents Phase 2,Phase 1
5 Calciferol Phase 2
6 Antiviral Agents Phase 2
7 Anti-Infective Agents Phase 2
8 Vitamins Phase 2
9 Hydroxycholecalciferols Phase 2
10 Immunologic Factors Phase 2,Phase 1
11 Nutrients Phase 2
12 interferons Phase 2
13 Adjuvants, Immunologic Phase 2
14 Interferon-beta Phase 2
15 Micronutrients Phase 2
16 Trace Elements Phase 2
17 Respiratory System Agents Phase 1, Phase 2
18 Parasympatholytics Phase 1, Phase 2
19 Peripheral Nervous System Agents Phase 1, Phase 2
20 Neurotransmitter Agents Phase 1, Phase 2
21 Bronchodilator Agents Phase 1, Phase 2
22 Adjuvants, Anesthesia Phase 1, Phase 2
23 Bromides Phase 1, Phase 2
24 Anesthetics Phase 1, Phase 2,Not Applicable
25 Tiotropium Bromide Phase 1, Phase 2 136310-93-5
26
Glycopyrrolate Phase 1, Phase 2 596-51-0 3494
27 Autonomic Agents Phase 1, Phase 2
28 Cholinergic Antagonists Phase 1, Phase 2
29 Muscarinic Antagonists Phase 1, Phase 2
30 Cholinergic Agents Phase 1, Phase 2
31 Anti-Asthmatic Agents Phase 1, Phase 2
32
Aminolevulinic acid Approved Phase 1 106-60-5 137
33
Teriparatide Approved, Investigational Phase 1 52232-67-4 16133850
34
Tadalafil Approved, Investigational Phase 1 171596-29-5 110635
35
Calcium Approved, Nutraceutical Phase 1 7440-70-2 271
36 Photosensitizing Agents Phase 1
37 Dermatologic Agents Phase 1
38 Hormones Phase 1
39 Calcium, Dietary Phase 1
40 Phosphodiesterase 5 Inhibitors Phase 1
41 Vaccines Phase 1
42 Vasodilator Agents Phase 1
43 Cola Phase 1
44 Phosphodiesterase Inhibitors Phase 1
45
Milk thistle Approved, Experimental, Investigational Not Applicable 65666-07-1
46
Turmeric Approved, Experimental, Investigational Not Applicable
47 Tea Not Applicable
48 Turmeric extract Not Applicable
49 Ashwagandha Not Applicable
50 Central Nervous System Depressants

Interventional clinical trials:

(show all 35)
# Name Status NCT ID Phase Drugs
1 Study of Effectiveness and Safety of Extracorporeal Shock Wave Therapy (ESWT) for Treatment of Painful Heel Syndrome Completed NCT00720694 Phase 3
2 Defocused Shock Wave Therapy for Chronic Wounds Completed NCT02410447 Phase 3
3 Objective Structured Assessment of Technical Skills (OSATS) Evaluation of Shoulder Dystocia Management Completed NCT01618565 Phase 3
4 Supplementation of VigantOL® Oil Versus Placebo as Add-on in Patients With Relapsing Remitting Multiple Sclerosis Receiving Rebif® Treatment Completed NCT01285401 Phase 2 VigantOL oil plus interferon beta-1a (Rebif);Placebo plus interferon beta-1a (Rebif)
5 Safety and Efficacy Study of Glyco pMDI After Single and Repeated Administration Completed NCT01176903 Phase 1, Phase 2 Glycopyrrolate;Tiotropium;placebo
6 Photodynamic Therapy for Ulcerative Colitis Unknown status NCT01697670 Phase 1 Photodynamic therapy with Gliolan
7 Bone Marrow Transfer to Enhance ST-Elevation Infarct Regeneration Completed NCT00224536 Phase 1
8 BN201 SAD MAD Study in Healthy Subjects Completed NCT03630497 Phase 1 Comparison of BN201 treatment with Placebo
9 A Study of Orally Administered JNJ-56136379 to Evaluate Safety, Tolerability and Pharmacokinetics After Single Ascending Doses and One Multiple Dose Regimen in Healthy Participants (Part I), and After Multiple Dose Regimens in Participants With Chronic Hepatitis B (Part II) Completed NCT02662712 Phase 1 JNJ-56136379;Placebo
10 A Phase I Study of AK159 in Healthy Postmenopausal Women Completed NCT01935479 Phase 1 AK159;MN-10-T;Placebo
11 Clinical Study of AK159 in Healthy Postmenopausal Women Completed NCT01551602 Phase 1 AK159;MN-10-T;Placebo
12 Trial of Perioperative Tadalafil and Influenza Vaccination in Cancer Patients Undergoing Major Surgical Resection of a Primary Abdominal Malignancy Recruiting NCT02998736 Phase 1 Cialis
13 Efficacy of Extracorporal Shock Wave Therapy in Patient With Chronic Non-bacterial Prostatitis / Chronic Pelvic Pain Syndrome Unknown status NCT01714830 Not Applicable
14 Extracorporeal Shock Wave Therapy (ESWT) for the Treatment of Spasticity in Persons With Spinal Cord Injury Completed NCT02203994 Not Applicable
15 Physical Training and Heart Rate Variability in COPD Completed NCT01889563 Not Applicable
16 Extracorporeal Shockwave Treatment for Greater Trochanteric Pain Syndrome Completed NCT03338465 Not Applicable
17 Shockwave Therapy of Chronic Diabetic Foot Ulcers Completed NCT02251418 Not Applicable
18 Assessment of Autonomic Co-regulation Between Newborn and Parent During Kangaroo Care Sessions in Neonatal Intensive Care Units Completed NCT03690804 Not Applicable
19 The Effects of Cold Water Immersion With Different Dosages (Duration and Temperature Variations) on Heart Rate Variability Post-exercise Recovery Completed NCT02499640 Not Applicable
20 The Effect of Protandim Supplementation on Oxidative Damage and Athletic Performance Completed NCT02172625 Not Applicable
21 The Effectiveness of AAD and IPV to Treat Hospitalized Infants (<2years) With Acute Viral Bronchiolitis. Completed NCT02126748 Not Applicable
22 Infants With Protein Sensitive Colitis Completed NCT01813526 Not Applicable
23 Seniors Health and Activity Research Program-Pilot Completed NCT00688155 Not Applicable
24 General Anesthesia and Autonomic Nervous System in Children Completed NCT02714777
25 An Interactive Preventive Health Record (IPHR) to Promote Patient-Centered Preventive Care Completed NCT00589173 Not Applicable
26 Cardiovascular Variability and Heart Rate Arousal Response in Idiopathic Hypersomnia Completed NCT02913651
27 Low-Intensity Extracorporeal Shock Wave Treatment for Erectile Dysfunction: A Randomized, Controlled, Double Blind Trial Recruiting NCT03006536 Not Applicable
28 Autonomical and Hemodynamic Repercussions on Excentric Resistance in Different Intensities With Blood Flow Restriction Recruiting NCT03942510 Not Applicable
29 Low-Intensity Extracorporeal Shockwave Therapy and Vacuum Erectile Device as a Treatment for Peyronies Disease. Recruiting NCT03530540 Not Applicable
30 Safety and Effect of Low-Energy Extracorporeal Shockwave Therapy (ESWT) on the Renal Allograft in Transplant Recipients. Recruiting NCT03602807 Not Applicable
31 Myocardial Damage and Music Study Recruiting NCT03507361 Not Applicable
32 Virtual Reality Based-therapy Applied to Physical Therapy in Cardiology. Recruiting NCT03377582 Not Applicable
33 Shocking Therapy for Chronic Pelvic Pain Syndrome Active, not recruiting NCT01828996 Not Applicable
34 Low-energy Extracorporeal Shockwave Treatment for Patients After Radical Prostatectomy Not yet recruiting NCT03192917 Not Applicable
35 A Sham Controlled Study of the Effects of Ultrasonic Shockwaves as a Treatment for Chronic Pelvic Pain Withdrawn NCT02042651 Not Applicable

Search NIH Clinical Center for Chromosome 2q35 Duplication Syndrome

Cochrane evidence based reviews: syndactyly

Sources

Genetic Tests for Chromosome 2q35 Duplication Syndrome

About this section

Genetic tests related to Chromosome 2q35 Duplication Syndrome:

# Genetic test Affiliating Genes
1 Syndactyly 30
2 Syndactyly Type 1 30
Sources

Anatomical Context for Chromosome 2q35 Duplication Syndrome

About this section

MalaCards organs/tissues related to Chromosome 2q35 Duplication Syndrome:

42
Skin, Bone, Heart, Eye, Prostate, Bone Marrow, Testes
Sources

Publications for Chromosome 2q35 Duplication Syndrome

About this section

Articles related to Chromosome 2q35 Duplication Syndrome:

(show top 50) (show all 517)
# Title Authors Year
1
Case of generalized anhidrosis associated with diffuse reticular hyperpigmentation and syndactyly. ( 30447014 )
2019
2
Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly. ( 30862798 )
2019
3
Keloid formation after syndactyly release in a patient with macrodactyly - methotrexate treatment. ( 29973103 )
2019
4
A novel insertion and deletion mutation in the BHLHA9 underlies polydactyly and mesoaxial synostotic syndactyly with phalangeal reduction. ( 30107244 )
2019
5
Surgical treatment of polydactyly and syndactyly during the 4th century AD. ( 30388389 )
2019
6
Type VI syndactyly with skeletal dysplasia: a new syndrome? ( 30138139 )
2019
7
A cross-sectional study of long-term satisfaction after surgery for congenital syndactyly: does skin grafting influence satisfaction? ( 30376761 )
2019
8
National Patterns in Surgical Management of Syndactyly: A Review of 956 Cases. ( 30770023 )
2019
9
Interdigitating Rectangular Flaps and Dorsal Pentagonal Island Flap for Syndactyly Release. ( 30947823 )
2019
10
Dorsal Hexagon Local Flap Without Skin Graft for Web Reconstruction of Congenital Syndactyly. ( 31079892 )
2019
11
Syndactyly release: a comparison of skin graft versus graftless techniques in the same patient. ( 31096828 )
2019
12
Moebius Syndrome with Hypoglossal Palsy, Syndactyly, Brachydactyly, and Anisometropic Amblyopia. ( 29774172 )
2018
13
Cenani-Lenz syndactyly syndrome - a case report of a family with isolated syndactyly. ( 30041615 )
2018
14
A novel homozygous missense variant in NECTIN4 (PVRL4) causing ectodermal dysplasia cutaneous syndactyly syndrome. ( 29430627 )
2018
15
A novel homozygous mutation in PVRL4 causes ectodermal dysplasia-syndactyly syndrome 1. ( 29265343 )
2018
16
Zygodactyly (Syndactyly Type A1) Associated With Midfoot Charcot Neuropathy and Diabetes. ( 29472431 )
2018
17
Timothy syndrome-like condition with syndactyly but without prolongation of the QT interval. ( 29736926 )
2018
18
A novel CACNA1C mutation identified in a patient with Timothy syndrome without syndactyly exerts both marked loss- and gain-of-function effects. ( 30023270 )
2018
19
Mesoaxial synostotic syndactyly with phalangeal reduction (MSSD): syndactyly type IX. ( 29230504 )
2018
20
Enhancer adoption caused by genomic insertion elicits interdigital Shh expression and syndactyly in mouse. ( 29255029 )
2018
21
Disruption of Wnt production in Shh lineage causes bone malformation in mice, mimicking human Malik-Percin-type syndactyly. ( 29292497 )
2018
22
Mutations in the fourth β-propeller domain of LRP4 are associated with isolated syndactyly with fusion of the third and fourth fingers. ( 29524275 )
2018
23
Autosomal dominant stapes fixation, syndactyly, and symphalangism in a family with NOG mutation: Long term follow-up on surgical treatment. ( 29605356 )
2018
24
Virtual Incision Pattern Planning using Three-Dimensional Images for Optimization of Syndactyly Surgery. ( 29707454 )
2018
25
Response to: "Letter to the editor: Mesoaxial synostotic syndactyly with phalangeal reduction (MSSD): syndactyly type IX". ( 29911248 )
2018
26
Comparative Analysis of the Efficacy of Dental Plaque Removal Between Manual and Powered Toothbrushes in Individuals With Syndactyly. ( 29944557 )
2018
27
Aesthetic Comparison of Two Different Types of Web-Space Reconstruction for Finger Syndactyly. ( 29994847 )
2018
28
Cenani-Lenz syndrome and other related syndactyly disorders due to variants in LRP4, GREM1/FMN1, and APC: Insight into the pathogenesis and the relationship to polyposis through the WNT and BMP antagonistic pathways. ( 30569497 )
2018
29
Reconstruction of Simple Incomplete Syndactyly of the Foot. ( 30655932 )
2018
30
Novel splice mutation in LRP4 causes severe type of Cenani-Lenz syndactyly syndrome with oro-facial and skeletal symptoms. ( 28559208 )
2017
31
A Novel Missense Variant in the PVRL4 Gene Underlying Ectodermal Dysplasia-Syndactyly Syndrome in a Turkish Child. ( 29456479 )
2017
32
Incidence of Acute Complications Following Surgery for Syndactyly and Polydactyly: An Analysis of the National Surgical Quality Improvement Program Database from 2012 to 2014. ( 28648327 )
2017
33
Genetic Overview of Syndactyly and Polydactyly. ( 29263957 )
2017
34
Nail Psoriasis Triggered by the Reconstruction of Syndactyly. ( 28656168 )
2017
35
Metatarsal bony syndactyly in 2 fetuses with Smith-Lemli-Opitz syndrome: An under-recognized part of the clinical spectrum. ( 28369852 )
2017
36
Timothy syndrome 1 genotype without syndactyly and major extracardiac manifestations. ( 28211989 )
2017
37
Linear Separation of Toe Syndactyly With Preserved Subcutaneous Vascular Network Skin Grafts. ( 27404473 )
2017
38
A Systematic Review and Comparison of Outcomes Following Simple Syndactyly Reconstruction With Skin Grafts or a Dorsal Metacarpal Advancement Flap. ( 28052826 )
2017
39
Single-Stage Separation of 3- and 4-Finger Incomplete Simple Syndactyly With Contiguous Gull Wing Flaps: A Technique to Minimize or Avoid Skin Grafting. ( 28372639 )
2017
40
Prenatal Diagnosis of a 2.5 Mb De Novo 17q24.1q24.2 Deletion Encompassing KPNA2 and PSMD12 Genes in a Fetus with Craniofacial Dysmorphism, Equinovarus Feet, and Syndactyly. ( 28465847 )
2017
41
Identification of a missense HOXD13 mutation in a Chinese family with syndactyly type I-c using exome sequencing. ( 28498426 )
2017
42
The Double Volar Flap Technique for Aesthetic Repair of Syndactyly and Polysyndactyly of Toe without Skin Grafting. ( 28507859 )
2017
43
Molecular genetic characterization of a prenatally detected de novo interstitial deletion of chromosome 2q (2q31.1-q32.1) encompassing HOXD13, ZNF385B and ZNF804A associated with syndactyly and increased first-trimester nuchal translucency. ( 28600059 )
2017
44
Complications and Cost of Syndactyly Reconstruction in the United States: Analysis of the Pediatric Health Information System. ( 28644945 )
2017
45
The use of a dorsal double-wing flap without skin grafts for congenital syndactyly treatment: A STROBE compliant study. ( 28746226 )
2017
46
Case report of a novel nonsyndromic unilateral syndactyly of the hand. ( 28748361 )
2017
47
A novel homozygous missense mutation in BHLHA9 causes mesoaxial synostotic syndactyly with phalangeal reduction in a Pakistani family. ( 29263794 )
2017
48
A de novo 2q35-q36.1 deletion incorporating IHH in a Chinese boy (47,XYY) with syndactyly, type III Waardenburg syndrome, and congenital heart disease. ( 27966732 )
2016
49
Constrictive Pericarditis and Primary Amenorrhea with Syndactyly in an Iranian Female: Mulibrey Nanism Syndrome. ( 28496510 )
2016
50
Perifascial areolar tissue grafting for treating syndactyly with bone fusion in patients with Apert syndrome. ( 26365357 )
2016
Sources

Variations for Chromosome 2q35 Duplication Syndrome

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ClinVar genetic disease variations for Chromosome 2q35 Duplication Syndrome:

6 (show top 50) (show all 117)
# Gene Variation Type Significance SNP ID Assembly Location
1 DLL3 NM_016941.3(DLL3): c.425T> A (p.Leu142Gln) single nucleotide variant Benign/Likely benign rs55741253 GRCh37 Chromosome 19, 39993470: 39993470
2 DLL3 NM_016941.3(DLL3): c.425T> A (p.Leu142Gln) single nucleotide variant Benign/Likely benign rs55741253 GRCh38 Chromosome 19, 39502830: 39502830
3 DLL3 NM_016941.3(DLL3): c.515T> G (p.Phe172Cys) single nucleotide variant Benign rs8107127 GRCh37 Chromosome 19, 39993560: 39993560
4 DLL3 NM_016941.3(DLL3): c.515T> G (p.Phe172Cys) single nucleotide variant Benign rs8107127 GRCh38 Chromosome 19, 39502920: 39502920
5 DLL3 NM_016941.3(DLL3): c.653T> C (p.Leu218Pro) single nucleotide variant Benign rs1110627 GRCh37 Chromosome 19, 39994711: 39994711
6 DLL3 NM_016941.3(DLL3): c.653T> C (p.Leu218Pro) single nucleotide variant Benign rs1110627 GRCh38 Chromosome 19, 39504071: 39504071
7 GJA1 NM_000165.5(GJA1): c.717G> A (p.Arg239=) single nucleotide variant Benign/Likely benign rs57946868 GRCh37 Chromosome 6, 121768710: 121768710
8 GJA1 NM_000165.5(GJA1): c.717G> A (p.Arg239=) single nucleotide variant Benign/Likely benign rs57946868 GRCh38 Chromosome 6, 121447564: 121447564
9 GJA1 NM_000165.5(GJA1): c.*3dup duplication Benign rs397824185 GRCh37 Chromosome 6, 121769145: 121769145
10 GJA1 NM_000165.5(GJA1): c.*3dup duplication Benign rs397824185 GRCh38 Chromosome 6, 121447999: 121447999
11 DLL3 NM_016941.3(DLL3): c.546C> G (p.Ala182=) single nucleotide variant Benign rs8106337 GRCh38 Chromosome 19, 39502951: 39502951
12 DLL3 NM_016941.3(DLL3): c.546C> G (p.Ala182=) single nucleotide variant Benign rs8106337 GRCh37 Chromosome 19, 39993591: 39993591
13 DLL3 NM_016941.3(DLL3): c.1029C> T (p.Pro343=) single nucleotide variant Benign rs2304214 GRCh37 Chromosome 19, 39996027: 39996027
14 DLL3 NM_016941.3(DLL3): c.1029C> T (p.Pro343=) single nucleotide variant Benign rs2304214 GRCh38 Chromosome 19, 39505387: 39505387
15 DLL3 NM_016941.3(DLL3): c.1562C> T (p.Ser521Phe) single nucleotide variant Likely benign rs191149379 GRCh38 Chromosome 19, 39507507: 39507507
16 DLL3 NM_016941.3(DLL3): c.1562C> T (p.Ser521Phe) single nucleotide variant Likely benign rs191149379 GRCh37 Chromosome 19, 39998147: 39998147
17 DLL3 NM_016941.3(DLL3): c.1674-10C> T single nucleotide variant Benign/Likely benign rs116099821 GRCh38 Chromosome 19, 39507820: 39507820
18 DLL3 NM_016941.3(DLL3): c.1674-10C> T single nucleotide variant Benign/Likely benign rs116099821 GRCh37 Chromosome 19, 39998460: 39998460
19 46;XY;t(12;14)(q15;q13)mat Translocation Uncertain significance
20 DLL3 NM_016941.3(DLL3): c.1066C> T (p.Arg356Trp) single nucleotide variant Uncertain significance rs146274789 GRCh37 Chromosome 19, 39996064: 39996064
21 DLL3 NM_016941.3(DLL3): c.1066C> T (p.Arg356Trp) single nucleotide variant Uncertain significance rs146274789 GRCh38 Chromosome 19, 39505424: 39505424
22 GJA1 NM_000165.5(GJA1): c.-135C> T single nucleotide variant Likely benign rs539558089 GRCh37 Chromosome 6, 121756860: 121756860
23 GJA1 NM_000165.5(GJA1): c.-135C> T single nucleotide variant Likely benign rs539558089 GRCh38 Chromosome 6, 121435714: 121435714
24 GJA1 NM_000165.5(GJA1): c.-67C> G single nucleotide variant Likely benign rs111581053 GRCh37 Chromosome 6, 121756928: 121756928
25 GJA1 NM_000165.5(GJA1): c.-67C> G single nucleotide variant Likely benign rs111581053 GRCh38 Chromosome 6, 121435782: 121435782
26 GJA1 NM_000165.5(GJA1): c.*47A> G single nucleotide variant Uncertain significance rs886061010 GRCh38 Chromosome 6, 121448043: 121448043
27 GJA1 NM_000165.5(GJA1): c.*47A> G single nucleotide variant Uncertain significance rs886061010 GRCh37 Chromosome 6, 121769189: 121769189
28 GJA1 NM_000165.5(GJA1): c.*191G> A single nucleotide variant Uncertain significance rs886061012 GRCh38 Chromosome 6, 121448187: 121448187
29 GJA1 NM_000165.5(GJA1): c.*191G> A single nucleotide variant Uncertain significance rs886061012 GRCh37 Chromosome 6, 121769333: 121769333
30 GJA1 NM_000165.5(GJA1): c.*243A> G single nucleotide variant Likely benign rs139128953 GRCh38 Chromosome 6, 121448239: 121448239
31 GJA1 NM_000165.5(GJA1): c.*243A> G single nucleotide variant Likely benign rs139128953 GRCh37 Chromosome 6, 121769385: 121769385
32 GJA1 NM_000165.5(GJA1): c.*285A> T single nucleotide variant Likely benign rs72548748 GRCh38 Chromosome 6, 121448281: 121448281
33 GJA1 NM_000165.5(GJA1): c.*285A> T single nucleotide variant Likely benign rs72548748 GRCh37 Chromosome 6, 121769427: 121769427
34 GJA1 NM_000165.5(GJA1): c.*1077T> C single nucleotide variant Likely benign rs528853645 GRCh37 Chromosome 6, 121770219: 121770219
35 GJA1 NM_000165.5(GJA1): c.*1077T> C single nucleotide variant Likely benign rs528853645 GRCh38 Chromosome 6, 121449073: 121449073
36 GJA1 NM_000165.5(GJA1): c.*1101T> C single nucleotide variant Uncertain significance rs886061022 GRCh37 Chromosome 6, 121770243: 121770243
37 GJA1 NM_000165.5(GJA1): c.*1101T> C single nucleotide variant Uncertain significance rs886061022 GRCh38 Chromosome 6, 121449097: 121449097
38 GJA1 NM_000165.5(GJA1): c.-161G> T single nucleotide variant Uncertain significance rs764033415 GRCh37 Chromosome 6, 121756834: 121756834
39 GJA1 NM_000165.5(GJA1): c.-161G> T single nucleotide variant Uncertain significance rs764033415 GRCh38 Chromosome 6, 121435688: 121435688
40 GJA1 NM_000165.5(GJA1): c.-16-12T> A single nucleotide variant Likely benign rs56199702 GRCh38 Chromosome 6, 121446820: 121446820
41 GJA1 NM_000165.5(GJA1): c.-16-12T> A single nucleotide variant Likely benign rs56199702 GRCh37 Chromosome 6, 121767966: 121767966
42 GJA1 NM_000165.5(GJA1): c.*163G> A single nucleotide variant Uncertain significance rs886061011 GRCh38 Chromosome 6, 121448159: 121448159
43 GJA1 NM_000165.5(GJA1): c.*163G> A single nucleotide variant Uncertain significance rs886061011 GRCh37 Chromosome 6, 121769305: 121769305
44 GJA1 NM_000165.5(GJA1): c.*772_*773dup duplication Likely benign rs397698276 GRCh38 Chromosome 6, 121448768: 121448769
45 GJA1 NM_000165.5(GJA1): c.*772_*773dup duplication Likely benign rs397698276 GRCh37 Chromosome 6, 121769914: 121769915
46 GJA1 NM_000165.4(GJA1): c.*773delT deletion Uncertain significance rs397698276 GRCh38 Chromosome 6, 121448769: 121448769
47 GJA1 NM_000165.4(GJA1): c.*773delT deletion Uncertain significance rs397698276 GRCh37 Chromosome 6, 121769915: 121769915
48 GJA1 NM_000165.5(GJA1): c.*773dup duplication Benign rs397698276 GRCh38 Chromosome 6, 121448769: 121448769
49 GJA1 NM_000165.5(GJA1): c.*773dup duplication Benign rs397698276 GRCh37 Chromosome 6, 121769915: 121769915
50 GJA1 NM_000165.5(GJA1): c.*968T> C single nucleotide variant Benign rs111878880 GRCh38 Chromosome 6, 121448964: 121448964

Copy number variations for Chromosome 2q35 Duplication Syndrome from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 142096 2 219500000 222200000 Duplication IHH Syndactyly
Sources

Expression for Chromosome 2q35 Duplication Syndrome

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Search GEO for disease gene expression data for Chromosome 2q35 Duplication Syndrome.
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Pathways for Chromosome 2q35 Duplication Syndrome

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Pathways related to Chromosome 2q35 Duplication Syndrome according to KEGG:

38
# Name Kegg Source Accession
1 Gap junction hsa04540
Sources

GO Terms for Chromosome 2q35 Duplication Syndrome

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Cellular components related to Chromosome 2q35 Duplication Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 basement membrane GO:0005604 8.8 FRAS1 FREM1 FREM2

Biological processes related to Chromosome 2q35 Duplication Syndrome according to GeneCards Suite gene sharing:

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.91 CACNA1C FREM2 GJA1 GLI3
2 in utero embryonic development GO:0001701 9.87 FGFR2 GJA1 GLI3 NOG
3 wound healing GO:0042060 9.8 FGFR2 GLI3 NOG
4 camera-type eye development GO:0043010 9.76 CACNA1C FBN2 GLI3
5 limb development GO:0060173 9.69 FBXW4 GLI3 NOG
6 pattern specification process GO:0007389 9.67 GLI3 HOXD13 NOG TP63
7 skeletal system development GO:0001501 9.65 FGFR3 HOXA13 HOXD13 NOG TP63
8 negative regulation of cardiac muscle cell proliferation GO:0060044 9.64 GJA1 NOG
9 morphogenesis of an epithelium GO:0002009 9.64 FRAS1 FREM2
10 embryonic digestive tract morphogenesis GO:0048557 9.63 FGFR2 GLI3
11 anatomical structure formation involved in morphogenesis GO:0048646 9.63 GLI3 NOG TP63
12 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.62 CACNA1C GJA1
13 cardiac conduction GO:0061337 9.62 CACNA1C GJA1
14 positive regulation of osteoblast differentiation GO:0045669 9.62 FBN2 GJA1 GLI3 TP63
15 membranous septum morphogenesis GO:0003149 9.61 FGFR2 NOG
16 limb morphogenesis GO:0035108 9.61 FBN2 GLI3 HOXD13
17 mesenchymal cell differentiation GO:0048762 9.6 FGFR2 NOG
18 gland morphogenesis GO:0022612 9.59 FGFR2 HOXD13
19 positive regulation of phospholipase activity GO:0010518 9.58 FGFR2 FGFR3
20 prostate gland development GO:0030850 9.58 GLI3 HOXD13 TP63
21 endochondral bone growth GO:0003416 9.56 FGFR2 FGFR3
22 regulation of branching involved in prostate gland morphogenesis GO:0060687 9.55 FGFR2 HOXD13
23 prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis GO:0060527 9.54 FGFR2 HOXD13
24 prostatic bud formation GO:0060513 9.52 NOG TP63
25 squamous basal epithelial stem cell differentiation involved in prostate gland acinus development GO:0060529 9.49 FGFR2 TP63
26 cell communication GO:0007154 9.46 FRAS1 FREM1 FREM2 GJA1
27 embryonic limb morphogenesis GO:0030326 9.43 FBN2 FBXW4 FRAS1 GLI3 HOXD13 TP63
28 embryonic digit morphogenesis GO:0042733 9.17 FBXW4 FREM2 GJA1 GLI3 HOXD13 LMBR1
29 multicellular organism development GO:0007275 10.08 BHLHA9 FBXW4 FREM1 FREM2 HOXA13 HOXD13

Molecular functions related to Chromosome 2q35 Duplication Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 fibroblast growth factor-activated receptor activity GO:0005007 8.62 FGFR2 FGFR3
Sources

Sources for Chromosome 2q35 Duplication Syndrome

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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