SD1
MCID: CHR619
MIFTS: 58

Chromosome 2q35 Duplication Syndrome (SD1)

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Chromosome 2q35 Duplication Syndrome

MalaCards integrated aliases for Chromosome 2q35 Duplication Syndrome:

Name: Chromosome 2q35 Duplication Syndrome 57 12
Syndactyly 12 76 53 37 29 55 6 44 15
Syndactyly, Type I 57 13 73
Syndactyly Type 1 53 59 29
Zygodactyly 57 53
Sdty1 57 53
Sd1 57 53
Syndactyly, Type 1, with or Without Craniosynostosis 57
Craniosynostosis, Philadelphia Type 59
Syndactyly, Type I; Sdty1 57
Non-Syndromic Syndactyly 53
Webbing of Digits 12
Symphalangism 12
Symphalangy 12

Characteristics:

Orphanet epidemiological data:

59
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:

57
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:

32
chromosome 2q35 duplication syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 185900
Disease Ontology 12 DOID:11193
ICD10 33 Q70 Q70.9
ICD9CM 35 755.1
MeSH 44 D013576
NCIt 50 C87125
SNOMED-CT 68 75352001
UMLS via Orphanet 74 C1832590 C1861380
ICD10 via Orphanet 34 Q87.0 Q70.3 Q70.0 more
MedGen 42 C1861380
KEGG 37 H01095

Summaries for Chromosome 2q35 Duplication Syndrome

NIH Rare Diseases : 53 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 synpolydactyly and fraser syndrome 1. An important gene associated with Chromosome 2q35 Duplication Syndrome is CUP2Q35 (Syndactyly, Type I), and among its related pathways/superpathways are Gap junction and Central carbon metabolism in cancer. 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 : 76 Syndactyly (from Greek �?ύν meaning "together" and δάκ�?�?λο�? meaning "finger") is a condition wherein... more...

Description from OMIM: 185900

Related Diseases for Chromosome 2q35 Duplication Syndrome

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

(show top 50) (show all 334)
# Related Disease Score Top Affiliating Genes
1 synpolydactyly 33.3 HOXD13 HOXA13 GLI3
2 fraser syndrome 1 33.1 FRAS1 FREM2 GRIP1
3 apert syndrome 33.0 GLI3 FGFR3 FGFR2
4 split-hand/foot malformation 6 31.5 TP63 FBXW4 BHLHA9
5 split-hand/foot malformation 4 31.4 TP63 SATB2 FBXW4
6 split-hand/foot malformation 5 31.3 HOXD13 FBXW4 TP63
7 lacrimoauriculodentodigital syndrome 31.2 TP63 SATB2 FGFR3 FGFR2
8 split hand-foot malformation 31.2 TP63 FBXW4 BHLHA9
9 cryptophthalmos 30.8 GRIP1 FREM2 FRAS1
10 tracheoesophageal fistula 30.1 NOG HOXD13 GLI3
11 choanal atresia, posterior 29.8 SATB2 FGFR2
12 renal hypodysplasia/aplasia 1 29.8 GRIP1 FREM2 FRAS1
13 synostosis 29.8 NOG GLI3 FGFR3 FGFR2 BHLHA9
14 syndactyly, type iii 12.6
15 syndactyly, mesoaxial synostotic, with phalangeal reduction 12.6
16 syndactyly, type v 12.6
17 cenani-lenz syndactyly syndrome 12.6
18 syndactyly, type iv 12.5
19 brachydactyly-syndactyly syndrome 12.5
20 toe syndactyly, telecanthus, and anogenital and renal malformations 12.4
21 ectodermal dysplasia-syndactyly syndrome 1 12.4
22 symphalangism, proximal, 1a 12.3
23 symphalangism, proximal, 1b 12.3
24 blepharophimosis with ptosis, syndactyly, and short stature 12.2
25 symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch 12.2
26 syndactyly-polydactyly-earlobe syndrome 12.2
27 ectodermal dysplasia-syndactyly syndrome 2 12.1
28 syndactyly type 6 12.1
29 coronal synostosis, syndactyly and jejunal atresia 12.1
30 multiple synostoses syndrome 1 12.1
31 thai symphalangism syndrome 12.1
32 ectodermal dysplasia with mental retardation and syndactyly 12.0
33 brachydactyly-distal symphalangism syndrome 12.0
34 eyebrows, duplication of, with stretchable skin and syndactyly 12.0
35 aphalangia, partial, with syndactyly and duplication of metatarsal iv 12.0
36 synpolydactyly 1 12.0
37 timothy syndrome 12.0
38 symphalangism of toes 11.9
39 symphalangism, c. s. lewis type 11.9
40 symphalangism brachydactyly craniosynostosis 11.9
41 symphalangism short stature accessory testis 11.9
42 tracheoesophageal fistula symphalangism 11.9
43 cleft lip palate oligodontia syndactyly pili torti 11.9
44 hydrops ectrodactyly syndactyly 11.9
45 sclerocornea, syndactyly, ambiguous genitalia 11.9
46 syndactyly ectodermal dysplasia cleft lip palate hand foot 11.9
47 tricho odonto onychodysplasia syndactyly dominant type 11.9
48 fbln1-related developmental delay-central nervous system anomaly-syndactyly syndrome 11.9
49 zlotogora syndrome 11.9
50 sclerosteosis 11.8

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



Diseases related to Chromosome 2q35 Duplication Syndrome

Symptoms & Phenotypes for Chromosome 2q35 Duplication Syndrome

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Chromosome 2q35 Duplication Syndrome:

59 32 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 finger syndactyly 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0006101
2 long palpebral fissure 59 32 hallmark (90%) Very frequent (99-80%) HP:0000637
3 craniosynostosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001363
4 toe syndactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001770
5 symphalangism affecting the phalanges of the hand 59 32 occasional (7.5%) Occasional (29-5%) HP:0009773
6 2-3 toe syndactyly 32 HP:0004691
7 cutaneous syndactyly 32 HP:0012725
8 sagittal craniosynostosis 32 occasional (7.5%) HP:0004442
9 3-4 finger syndactyly 32 HP:0006097
10 distal symphalangism of hands 32 HP:0001204

MGI Mouse Phenotypes related to Chromosome 2q35 Duplication Syndrome:

46 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.39 FBN2 FGFR2 FGFR3 FRAS1 FREM2 GJA1
2 limbs/digits/tail MP:0005371 10.36 BHLHA9 FBN2 FBXW4 FGFR2 FGFR3 FRAS1
3 cardiovascular system MP:0005385 10.34 FBN2 FGFR2 FRAS1 FREM2 GJA1 GLI3
4 mortality/aging MP:0010768 10.34 CCNQ FBN2 FBXW4 FGFR2 FGFR3 FRAS1
5 embryo MP:0005380 10.26 FBXW4 FGFR2 FREM2 GJA1 GLI3 GRIP1
6 craniofacial MP:0005382 10.25 FBN2 FGFR2 FGFR3 FRAS1 FREM2 GJA1
7 integument MP:0010771 10.22 FGFR2 FGFR3 FRAS1 FREM2 GJA1 GLI3
8 digestive/alimentary MP:0005381 10.19 FGFR2 FGFR3 FRAS1 GLI3 HOXA13 HOXD13
9 hearing/vestibular/ear MP:0005377 10.04 FBN2 FGFR2 FGFR3 FREM2 GJA1 GLI3
10 renal/urinary system MP:0005367 10.02 FGFR2 FGFR3 FRAS1 FREM2 GLI3 GRIP1
11 muscle MP:0005369 10.01 FBN2 FGFR2 FREM2 GJA1 HOXD13 NOG
12 no phenotypic analysis MP:0003012 9.97 FBXW4 FGFR2 FGFR3 FRAS1 GJA1 GLI3
13 reproductive system MP:0005389 9.96 FBN2 FGFR2 FGFR3 FREM2 GJA1 GLI3
14 respiratory system MP:0005388 9.85 FBN2 FGFR2 FGFR3 FRAS1 FREM2 GJA1
15 skeleton MP:0005390 9.8 FBN2 FBXW4 FGFR2 FGFR3 FRAS1 FREM2
16 vision/eye MP:0005391 9.4 FBN2 FGFR2 FGFR3 FRAS1 FREM2 GJA1

Drugs & Therapeutics for Chromosome 2q35 Duplication Syndrome

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

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

Interventional clinical trials:

(show all 34)
# 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 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
9 A Phase I Study of AK159 in Healthy Postmenopausal Women Completed NCT01935479 Phase 1 AK159;MN-10-T;Placebo
10 Clinical Study of AK159 in Healthy Postmenopausal Women Completed NCT01551602 Phase 1 AK159;MN-10-T;Placebo
11 Trial of Perioperative Tadalafil and Influenza Vaccination in Cancer Patients Undergoing Major Surgical Resection of a Primary Abdominal Malignancy Recruiting NCT02998736 Phase 1 Cialis
12 BN201 SAD MAD Study in Healthy Subjects Recruiting NCT03630497 Phase 1 Comparison of BN201 treatment with Placebo
13 Efficacy of Extracorporal Shock Wave Therapy in Patient With Chronic Non-bacterial Prostatitis / Chronic Pelvic Pain Syndrome Unknown status NCT01714830 Not Applicable
14 Shocking Therapy for Chronic Pelvic Pain Syndrome Unknown status NCT01828996 Not Applicable
15 Extracorporeal Shock Wave Therapy (ESWT) for the Treatment of Spasticity in Persons With Spinal Cord Injury Completed NCT02203994 Not Applicable
16 Physical Training and Heart Rate Variability in COPD Completed NCT01889563 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 Low-Intensity Extracorporeal Shockwave Therapy and Vacuum Erectile Device as a Treatment for Peyronies Disease. Recruiting NCT03530540 Not Applicable
29 Safety and Effect of Low-Energy Extracorporeal Shockwave Therapy (ESWT) on the Renal Allograft in Transplant Recipients. Recruiting NCT03602807 Not Applicable
30 Virtual Reality Based-therapy Applied to Physical Therapy in Cardiology. Recruiting NCT03377582 Not Applicable
31 Extracorporeal Shockwave Treatment for Greater Trochanteric Pain Syndrome Not yet recruiting NCT03338465 Not Applicable
32 Low-energy Extracorporeal Shockwave Treatment for Patients After Radical Prostatectomy Not yet recruiting NCT03192917 Not Applicable
33 Myocardial Damage and Music Study Not yet recruiting NCT03507361 Not Applicable
34 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

Genetic Tests for Chromosome 2q35 Duplication Syndrome

Genetic tests related to Chromosome 2q35 Duplication Syndrome:

# Genetic test Affiliating Genes
1 Syndactyly Type 1 29
2 Syndactyly 29

Anatomical Context for Chromosome 2q35 Duplication Syndrome

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

41
Skin, Bone, Heart, Testis, Testes

Publications for Chromosome 2q35 Duplication Syndrome

Articles related to Chromosome 2q35 Duplication Syndrome:

(show top 50) (show all 66)
# Title Authors Year
1
Type VI syndactyly with skeletal dysplasia: a new syndrome? ( 30138139 )
2019
2
Moebius Syndrome with Hypoglossal Palsy, Syndactyly, Brachydactyly, and Anisometropic Amblyopia. ( 29774172 )
2018
3
Case of generalized anhidrosis associated with diffuse reticular hyperpigmentation and syndactyly. ( 30447014 )
2018
4
Cenani-Lenz syndactyly syndrome - a case report of a family with isolated syndactyly. ( 30041615 )
2018
5
Zygodactyly (Syndactyly Type A1) Associated With Midfoot Charcot Neuropathy and Diabetes. ( 29472431 )
2018
6
A novel insertion and deletion mutation in the BHLHA9 underlies polydactyly and mesoaxial synostotic syndactyly with phalangeal reduction. ( 30107244 )
2018
7
Surgical treatment of polydactyly and syndactyly during the 4th century AD. ( 30388389 )
2018
8
A novel CACNA1C mutation identified in a patient with Timothy syndrome without syndactyly exerts both marked loss- and gain-of-function effects. ( 30023270 )
2018
9
Mesoaxial synostotic syndactyly with phalangeal reduction (MSSD): syndactyly type IX. ( 29230504 )
2018
10
Enhancer adoption caused by genomic insertion elicits interdigital Shh expression and syndactyly in mouse. ( 29255029 )
2018
11
Disruption of Wnt production in Shh lineage causes bone malformation in mice, mimicking human Malik-Percin-type syndactyly. ( 29292497 )
2018
12
Mutations in the fourth β-propeller domain of LRP4 are associated with isolated syndactyly with fusion of the third and fourth fingers. ( 29524275 )
2018
13
Virtual Incision Pattern Planning using Three-Dimensional Images for Optimization of Syndactyly Surgery. ( 29707454 )
2018
14
Response to: "Letter to the editor: Mesoaxial synostotic syndactyly with phalangeal reduction (MSSD): syndactyly type IX". ( 29911248 )
2018
15
Comparative Analysis of the Efficacy of Dental Plaque Removal Between Manual and Powered Toothbrushes in Individuals With Syndactyly. ( 29944557 )
2018
16
Aesthetic Comparison of Two Different Types of Web-Space Reconstruction for Finger Syndactyly. ( 29994847 )
2018
17
A cross-sectional study of long-term satisfaction after surgery for congenital syndactyly: does skin grafting influence satisfaction? ( 30376761 )
2018
18
Identification of a missense HOXD13 mutation in a Chinese family with syndactyly type I-c using exome sequencing. ( 28498426 )
2017
19
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
20
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
21
The Double Volar Flap Technique for Aesthetic Repair of Syndactyly and Polysyndactyly of Toe without Skin Grafting. ( 28507859 )
2017
22
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
23
Complications and Cost of Syndactyly Reconstruction in the United States: Analysis of the Pediatric Health Information System. ( 28644945 )
2017
24
Nail Psoriasis Triggered by the Reconstruction of Syndactyly. ( 28656168 )
2017
25
The use of a dorsal double-wing flap without skin grafts for congenital syndactyly treatment: A STROBE compliant study. ( 28746226 )
2017
26
Case report of a novel nonsyndromic unilateral syndactyly of the hand. ( 28748361 )
2017
27
Ultrasound-guided axillary brachial plexus blocks for pseudo- syndactyly surgeries in a patient with epidermolysis bullosa: a case report. ( 29873989 )
2016
28
Congenital cutis marmorata telangiectatica and syndactyly in a preterm: case report. ( 27079404 )
2016
29
Case Report of Bilateral 3-4 Metatarsal Syndactyly in a Pet Rabbit. ( 29955420 )
2016
30
Results of syndactyly release using a modification of the Flatt technique. ( 24554689 )
2014
31
Mutations in the homeodomain of HOXD13 cause syndactyly type 1-c in two Chinese families. ( 24789103 )
2014
32
Syndactyly correction using a venous flap with the plantar cutaneous venous arch. ( 24841825 )
2014
33
Long QT, syndactyly, joint contractures, stroke and novel CACNA1C mutation: expanding the spectrum of Timothy syndrome. ( 22106044 )
2012
34
Different Approaches to Syndactyly Repair without Skin Graft. ( 20885274 )
2010
35
A novel single-base deletion in ROR2 causes atypical brachydactyly type B1 with cutaneous syndactyly in a large Chinese family. ( 19461659 )
2009
36
End-of-skin grafts in syndactyly release: description of a new flap for web space resurfacing and primary closure of finger defects. ( 18807092 )
2009
37
Advantages of open treatment for syndactyly of the foot: defining its indications. ( 19401942 )
2009
38
Squamous cell carcinoma in bilateral untreated syndactyly. ( 19863435 )
2009
39
Syndactyly lethal: new mutation with multiple malformations occurring in Sprague Dawley rats. ( 20021486 )
2009
40
Early morphological changes leading to central polydactyly, syndactyly, and central deficiencies: an experimental study in rats. ( 17996777 )
2007
41
Congenital syndactyly in cattle: four novel mutations in the low density lipoprotein receptor-related protein 4 gene (LRP4). ( 17319939 )
2007
42
Evidence for clinical and genetic heterogeneity of syndactyly type I: the phenotype of second and third toe syndactyly maps to chromosome 3p21.31. ( 16189548 )
2005
43
Acquired syndactyly secondary to acrodermatitis continua of Hallopeau. ( 15888186 )
2005
44
Three-square-flip-flap reconstruction for post burn syndactyly. ( 15936735 )
2005
45
Keloid formation after syndactyly reconstruction: associated conditions, prevalence, and preliminary report of a treatment method. ( 15043889 )
2004
46
Sandhoff disease in an extreme preterm baby with bilateral syndactyly. ( 12754550 )
2003
47
A training model for designing flaps for release of syndactyly. ( 14578824 )
2003
48
Trigonomicrocephaly, severe micrognathia, large ears, atrioventricular septal defect, symmetrical cutaneous syndactyly of hands and feet, and multiple café-au-lait spots: new acrocraniofacial dysostosis syndrome? ( 11424146 )
2001
49
Two sibs with microcephaly, hygroma colli, renal dysplasia, and cutaneous syndactyly: a new lethal MCA syndrome? ( 10874639 )
1999
50
Use of reverse triangular V-Y flaps to create a web space in syndactyly. ( 10340864 )
1999

Variations for Chromosome 2q35 Duplication Syndrome

ClinVar genetic disease variations for Chromosome 2q35 Duplication Syndrome:

6 (show top 50) (show all 116)
# 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_000165.4(GJA1): c.717G> A (p.Arg239=) single nucleotide variant Benign/Likely benign rs57946868 GRCh37 Chromosome 6, 121768710: 121768710
8 GJA1 NM_000165.4(GJA1): c.717G> A (p.Arg239=) single nucleotide variant Benign/Likely benign rs57946868 GRCh38 Chromosome 6, 121447564: 121447564
9 GJA1 NM_000165.4(GJA1): c.*3dupA duplication Benign rs397824185 GRCh37 Chromosome 6, 121769145: 121769145
10 GJA1 NM_000165.4(GJA1): c.*3dupA 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 DLL3 NM_016941.3(DLL3): c.1066C> T (p.Arg356Trp) single nucleotide variant Uncertain significance rs146274789 GRCh37 Chromosome 19, 39996064: 39996064
20 DLL3 NM_016941.3(DLL3): c.1066C> T (p.Arg356Trp) single nucleotide variant Uncertain significance rs146274789 GRCh38 Chromosome 19, 39505424: 39505424
21 GJA1 NM_000165.4(GJA1): c.-135C> T single nucleotide variant Likely benign rs539558089 GRCh37 Chromosome 6, 121756860: 121756860
22 GJA1 NM_000165.4(GJA1): c.-135C> T single nucleotide variant Likely benign rs539558089 GRCh38 Chromosome 6, 121435714: 121435714
23 GJA1 NM_000165.4(GJA1): c.-67C> G single nucleotide variant Likely benign rs111581053 GRCh37 Chromosome 6, 121756928: 121756928
24 GJA1 NM_000165.4(GJA1): c.-67C> G single nucleotide variant Likely benign rs111581053 GRCh38 Chromosome 6, 121435782: 121435782
25 GJA1 NM_000165.4(GJA1): c.*47A> G single nucleotide variant Uncertain significance rs886061010 GRCh37 Chromosome 6, 121769189: 121769189
26 GJA1 NM_000165.4(GJA1): c.*47A> G single nucleotide variant Uncertain significance rs886061010 GRCh38 Chromosome 6, 121448043: 121448043
27 GJA1 NM_000165.4(GJA1): c.*191G> A single nucleotide variant Uncertain significance rs886061012 GRCh37 Chromosome 6, 121769333: 121769333
28 GJA1 NM_000165.4(GJA1): c.*191G> A single nucleotide variant Uncertain significance rs886061012 GRCh38 Chromosome 6, 121448187: 121448187
29 GJA1 NM_000165.4(GJA1): c.*243A> G single nucleotide variant Likely benign rs139128953 GRCh37 Chromosome 6, 121769385: 121769385
30 GJA1 NM_000165.4(GJA1): c.*243A> G single nucleotide variant Likely benign rs139128953 GRCh38 Chromosome 6, 121448239: 121448239
31 GJA1 NM_000165.4(GJA1): c.*285A> T single nucleotide variant Likely benign rs72548748 GRCh37 Chromosome 6, 121769427: 121769427
32 GJA1 NM_000165.4(GJA1): c.*285A> T single nucleotide variant Likely benign rs72548748 GRCh38 Chromosome 6, 121448281: 121448281
33 GJA1 NM_000165.4(GJA1): c.*1077T> C single nucleotide variant Likely benign rs528853645 GRCh37 Chromosome 6, 121770219: 121770219
34 GJA1 NM_000165.4(GJA1): c.*1077T> C single nucleotide variant Likely benign rs528853645 GRCh38 Chromosome 6, 121449073: 121449073
35 GJA1 NM_000165.4(GJA1): c.*1101T> C single nucleotide variant Uncertain significance rs886061022 GRCh37 Chromosome 6, 121770243: 121770243
36 GJA1 NM_000165.4(GJA1): c.*1101T> C single nucleotide variant Uncertain significance rs886061022 GRCh38 Chromosome 6, 121449097: 121449097
37 GJA1 NM_000165.4(GJA1): c.-161G> T single nucleotide variant Uncertain significance rs764033415 GRCh37 Chromosome 6, 121756834: 121756834
38 GJA1 NM_000165.4(GJA1): c.-161G> T single nucleotide variant Uncertain significance rs764033415 GRCh38 Chromosome 6, 121435688: 121435688
39 GJA1 NM_000165.4(GJA1): c.-16-12T> A single nucleotide variant Likely benign rs56199702 GRCh37 Chromosome 6, 121767966: 121767966
40 GJA1 NM_000165.4(GJA1): c.-16-12T> A single nucleotide variant Likely benign rs56199702 GRCh38 Chromosome 6, 121446820: 121446820
41 GJA1 NM_000165.4(GJA1): c.*163G> A single nucleotide variant Uncertain significance rs886061011 GRCh37 Chromosome 6, 121769305: 121769305
42 GJA1 NM_000165.4(GJA1): c.*163G> A single nucleotide variant Uncertain significance rs886061011 GRCh38 Chromosome 6, 121448159: 121448159
43 GJA1 NM_000165.4(GJA1): c.*772_*773dupTT duplication Likely benign rs397698276 GRCh38 Chromosome 6, 121448768: 121448769
44 GJA1 NM_000165.4(GJA1): c.*772_*773dupTT duplication Likely benign rs397698276 GRCh37 Chromosome 6, 121769914: 121769915
45 GJA1 NM_000165.4(GJA1): c.*773delT deletion Uncertain significance rs886061017 GRCh38 Chromosome 6, 121448769: 121448769
46 GJA1 NM_000165.4(GJA1): c.*773delT deletion Uncertain significance rs886061017 GRCh37 Chromosome 6, 121769915: 121769915
47 GJA1 NM_000165.4(GJA1): c.*773dupT duplication Benign rs397698276 GRCh38 Chromosome 6, 121448769: 121448769
48 GJA1 NM_000165.4(GJA1): c.*773dupT duplication Benign rs397698276 GRCh37 Chromosome 6, 121769915: 121769915
49 GJA1 NM_000165.4(GJA1): c.*968T> C single nucleotide variant Benign rs111878880 GRCh38 Chromosome 6, 121448964: 121448964
50 GJA1 NM_000165.4(GJA1): c.*968T> C single nucleotide variant Benign rs111878880 GRCh37 Chromosome 6, 121770110: 121770110

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

Expression for Chromosome 2q35 Duplication Syndrome

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

Pathways for Chromosome 2q35 Duplication Syndrome

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

37
# Name Kegg Source Accession
1 Gap junction hsa04540

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

# Super pathways Score Top Affiliating Genes
1 10.61 FGFR2 FGFR3 PIK3R2
2 10.26 FBN2 FGFR2 FGFR3 FRAS1 PIK3R2

GO Terms for Chromosome 2q35 Duplication Syndrome

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

(show all 30)
# Name GO ID Score Top Affiliating Genes
1 in utero embryonic development GO:0001701 9.88 FGFR2 GJA1 GLI3 NOG
2 phosphatidylinositol phosphorylation GO:0046854 9.81 FGFR2 FGFR3 PIK3R2
3 wound healing GO:0042060 9.8 FGFR2 GLI3 NOG
4 cartilage development GO:0051216 9.79 FBXW4 NOG SATB2
5 roof of mouth development GO:0060021 9.77 FRAS1 GLI3 SATB2
6 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.72 FGFR2 FGFR3 PIK3R2
7 cell communication GO:0007154 9.71 FRAS1 FREM2 GJA1
8 limb development GO:0060173 9.69 FBXW4 GLI3 NOG
9 embryonic pattern specification GO:0009880 9.65 FGFR2 SATB2
10 morphogenesis of an epithelium GO:0002009 9.64 FRAS1 FREM2
11 embryonic digestive tract morphogenesis GO:0048557 9.63 FGFR2 GLI3
12 membranous septum morphogenesis GO:0003149 9.62 FGFR2 NOG
13 mesenchymal cell differentiation GO:0048762 9.62 FGFR2 NOG
14 pattern specification process GO:0007389 9.62 GLI3 HOXD13 NOG TP63
15 gland morphogenesis GO:0022612 9.61 FGFR2 HOXD13
16 anatomical structure formation involved in morphogenesis GO:0048646 9.61 GLI3 NOG TP63
17 positive regulation of phospholipase activity GO:0010518 9.59 FGFR2 FGFR3
18 endochondral bone growth GO:0003416 9.58 FGFR2 FGFR3
19 limb morphogenesis GO:0035108 9.58 FBN2 GLI3 HOXD13
20 regulation of branching involved in prostate gland morphogenesis GO:0060687 9.57 FGFR2 HOXD13
21 prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis GO:0060527 9.56 FGFR2 HOXD13
22 positive regulation of osteoblast differentiation GO:0045669 9.56 FBN2 GJA1 GLI3 TP63
23 skeletal system development GO:0001501 9.55 FGFR3 HOXA13 HOXD13 NOG TP63
24 prostate gland development GO:0030850 9.54 GLI3 HOXD13 TP63
25 prostatic bud formation GO:0060513 9.52 NOG TP63
26 squamous basal epithelial stem cell differentiation involved in prostate gland acinus development GO:0060529 9.49 FGFR2 TP63
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 positive regulation of transcription by RNA polymerase II GO:0045944 10.08 CCNQ FGFR2 GLI3 HOXD13 NOG PIK3R2
30 multicellular organism development GO:0007275 10.06 BHLHA9 FBXW4 FREM2 HOXA13 HOXD13 NOG

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

# Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 9.72 GLI3 HOXA13 HOXD13 SATB2 TP63
2 proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001077 9.56 GLI3 HOXD13 SATB2 TP63
3 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.33 FGFR2 FGFR3 PIK3R2
4 fibroblast growth factor-activated receptor activity GO:0005007 8.96 FGFR2 FGFR3
5 1-phosphatidylinositol-3-kinase activity GO:0016303 8.8 FGFR2 FGFR3 PIK3R2

Sources for Chromosome 2q35 Duplication Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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