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SD1
MCID: CHR619
MIFTS: 58

Chromosome 2q35 Duplication Syndrome (SD1)

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 I 58 13 74
Syndactyly Type 1 54 60 30
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
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 bone, heart and prostate, 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 329)
# 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 31.3 BHLHA9 FBXW4 TP63
7 cryptophthalmos 30.6 FRAS1 FREM1 FREM2 GRIP1
8 tracheoesophageal fistula 30.3 GLI3 HOXD13 NOG
9 synostosis 29.8 BHLHA9 FGFR2 FGFR3 GLI3 NOG
10 renal hypodysplasia/aplasia 1 29.7 FRAS1 FREM1 FREM2 GRIP1
11 syndactyly, type iii 12.6
12 syndactyly, mesoaxial synostotic, with phalangeal reduction 12.6
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 ectodermal dysplasia-syndactyly syndrome 1 12.5
18 toe syndactyly, telecanthus, and anogenital and renal malformations 12.4
19 symphalangism, proximal, 1a 12.4
20 symphalangism, proximal, 1b 12.4
21 syndactyly-polydactyly-earlobe syndrome 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 12.1
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 timothy syndrome 12.0
37 symphalangism of toes 12.0
38 symphalangism, c. s. lewis type 12.0
39 symphalangism brachydactyly craniosynostosis 12.0
40 symphalangism short stature accessory testis 12.0
41 tracheoesophageal fistula symphalangism 12.0
42 cleft lip palate oligodontia syndactyly pili torti 11.9
43 hydrops ectrodactyly syndactyly 11.9
44 sclerocornea, syndactyly, ambiguous genitalia 11.9
45 syndactyly ectodermal dysplasia cleft lip palate hand foot 11.9
46 tricho odonto onychodysplasia syndactyly dominant type 11.9
47 fbln1-related developmental delay-central nervous system anomaly-syndactyly syndrome 11.9
48 zlotogora 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 Calciferol Phase 2
5 Bone Density Conservation Agents Phase 2,Phase 1
6 interferons Phase 2
7 Antiviral Agents Phase 2
8 Interferon-beta Phase 2
9 Nutrients Phase 2
10 Anti-Infective Agents Phase 2
11 Adjuvants, Immunologic Phase 2
12 Trace Elements Phase 2
13 Vitamins Phase 2
14 Immunologic Factors Phase 2,Phase 1
15 Micronutrients Phase 2
16 Hydroxycholecalciferols Phase 2
17 Tiotropium Bromide Phase 1, Phase 2 136310-93-5
18 Bromides Phase 1, Phase 2
19 Muscarinic Antagonists Phase 1, Phase 2
20 Respiratory System Agents Phase 1, Phase 2
21 Adjuvants, Anesthesia Phase 1, Phase 2
22 Bronchodilator Agents Phase 1, Phase 2
23 Anesthetics Phase 1, Phase 2,Not Applicable
24 Neurotransmitter Agents Phase 1, Phase 2
25 Autonomic Agents Phase 1, Phase 2
26
Glycopyrrolate Phase 1, Phase 2 596-51-0 3494
27 Anti-Asthmatic Agents Phase 1, Phase 2
28 Cholinergic Agents Phase 1, Phase 2
29 Cholinergic Antagonists Phase 1, Phase 2
30 Peripheral Nervous System Agents Phase 1, Phase 2
31 Parasympatholytics 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 Dermatologic Agents Phase 1
37 Photosensitizing Agents Phase 1
38 Calcium, Dietary Phase 1
39 Hormones Phase 1
40 Phosphodiesterase Inhibitors Phase 1
41 Phosphodiesterase 5 Inhibitors Phase 1
42 Cola Phase 1
43 Vasodilator Agents Phase 1
44 Vaccines Phase 1
45
Turmeric Approved, Experimental, Investigational Not Applicable
46
Milk thistle Approved, Experimental, Investigational Not Applicable 65666-07-1
47 Turmeric extract Not Applicable
48 Tea Not Applicable
49 Ashwagandha Not Applicable
50 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 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 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 Shocking Therapy for Chronic Pelvic Pain Syndrome Active, not recruiting NCT01828996 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

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 Type 1 30
2 Syndactyly 30
Sources

Anatomical Context for Chromosome 2q35 Duplication Syndrome

About this section

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

42
Bone, Heart, Prostate, Bone Marrow, Skin, Spinal Cord
Sources

Publications for Chromosome 2q35 Duplication Syndrome

About this section

Articles related to Chromosome 2q35 Duplication Syndrome:

(show all 41)
# Title Authors Year
1
Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly. ( 30862798 )
2019
2
Type VI syndactyly with skeletal dysplasia: a new syndrome? ( 30138139 )
2019
3
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 )
2019
4
National Patterns in Surgical Management of Syndactyly: A Review of 956 Cases. ( 30770023 )
2019
5
Case of generalized anhidrosis associated with diffuse reticular hyperpigmentation and syndactyly. ( 30447014 )
2018
6
Cenani-Lenz syndactyly syndrome - a case report of a family with isolated syndactyly. ( 30041615 )
2018
7
Zygodactyly (Syndactyly Type A1) Associated With Midfoot Charcot Neuropathy and Diabetes. ( 29472431 )
2018
8
A novel insertion and deletion mutation in the BHLHA9 underlies polydactyly and mesoaxial synostotic syndactyly with phalangeal reduction. ( 30107244 )
2018
9
Surgical treatment of polydactyly and syndactyly during the 4th century AD. ( 30388389 )
2018
10
A novel CACNA1C mutation identified in a patient with Timothy syndrome without syndactyly exerts both marked loss- and gain-of-function effects. ( 30023270 )
2018
11
Mesoaxial synostotic syndactyly with phalangeal reduction (MSSD): syndactyly type IX. ( 29230504 )
2018
12
Enhancer adoption caused by genomic insertion elicits interdigital Shh expression and syndactyly in mouse. ( 29255029 )
2018
13
Disruption of Wnt production in Shh lineage causes bone malformation in mice, mimicking human Malik-Percin-type syndactyly. ( 29292497 )
2018
14
Mutations in the fourth β-propeller domain of LRP4 are associated with isolated syndactyly with fusion of the third and fourth fingers. ( 29524275 )
2018
15
Virtual Incision Pattern Planning using Three-Dimensional Images for Optimization of Syndactyly Surgery. ( 29707454 )
2018
16
Response to: "Letter to the editor: Mesoaxial synostotic syndactyly with phalangeal reduction (MSSD): syndactyly type IX". ( 29911248 )
2018
17
Comparative Analysis of the Efficacy of Dental Plaque Removal Between Manual and Powered Toothbrushes in Individuals With Syndactyly. ( 29944557 )
2018
18
Aesthetic Comparison of Two Different Types of Web-Space Reconstruction for Finger Syndactyly. ( 29994847 )
2018
19
A cross-sectional study of long-term satisfaction after surgery for congenital syndactyly: does skin grafting influence satisfaction? ( 30376761 )
2018
20
Reconstruction of Simple Incomplete Syndactyly of the Foot. ( 30655932 )
2018
21
Identification of a missense HOXD13 mutation in a Chinese family with syndactyly type I-c using exome sequencing. ( 28498426 )
2017
22
Nail Psoriasis Triggered by the Reconstruction of Syndactyly. ( 28656168 )
2017
23
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
24
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
25
The Double Volar Flap Technique for Aesthetic Repair of Syndactyly and Polysyndactyly of Toe without Skin Grafting. ( 28507859 )
2017
26
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
27
Complications and Cost of Syndactyly Reconstruction in the United States: Analysis of the Pediatric Health Information System. ( 28644945 )
2017
28
The use of a dorsal double-wing flap without skin grafts for congenital syndactyly treatment: A STROBE compliant study. ( 28746226 )
2017
29
Case report of a novel nonsyndromic unilateral syndactyly of the hand. ( 28748361 )
2017
30
Ultrasound-guided axillary brachial plexus blocks for pseudo- syndactyly surgeries in a patient with epidermolysis bullosa: a case report. ( 29873989 )
2016
31
Case Report of Bilateral 3-4 Metatarsal Syndactyly in a Pet Rabbit. ( 29955420 )
2016
32
Squamous cell carcinoma in bilateral untreated syndactyly. ( 19863435 )
2009
33
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
34
A training model for designing flaps for release of syndactyly. ( 14578824 )
2003
35
Syndactyly of Ft/+ mice correlates with an imbalance in bmp4 and fgf8 expression. ( 10534616 )
1999
36
Mesoaxial complete syndactyly and synostosis with hypoplastic thumbs: an unusual combination or homozygous expression of syndactyly type I? ( 9783716 )
1998
37
Reverse W-M plasty in the repair of congenital syndactyly: a new method. ( 8392420 )
1993
38
Syndactyly type I in six generations of a large Mexican family. ( 6312522 )
1983
39
Familial dermatoglyphic analysis in syndactyly type I. ( 6273467 )
1981
40
Syndactyly in a rhesus monkey- a case report. ( 4336910 )
1972
41
Inheritance of syndactyly. ( 4345867 )
1972
Sources

Variations for Chromosome 2q35 Duplication Syndrome

About this section

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 46;XY;t(12;14)(q15;q13)mat Translocation Uncertain significance
12 DLL3 NM_016941.3(DLL3): c.1066C> T (p.Arg356Trp) single nucleotide variant Uncertain significance rs146274789 GRCh37 Chromosome 19, 39996064: 39996064
13 DLL3 NM_016941.3(DLL3): c.1066C> T (p.Arg356Trp) single nucleotide variant Uncertain significance rs146274789 GRCh38 Chromosome 19, 39505424: 39505424
14 GJA1 NM_000165.5(GJA1): c.-135C> T single nucleotide variant Likely benign rs539558089 GRCh37 Chromosome 6, 121756860: 121756860
15 GJA1 NM_000165.5(GJA1): c.-135C> T single nucleotide variant Likely benign rs539558089 GRCh38 Chromosome 6, 121435714: 121435714
16 GJA1 NM_000165.5(GJA1): c.-67C> G single nucleotide variant Likely benign rs111581053 GRCh37 Chromosome 6, 121756928: 121756928
17 GJA1 NM_000165.5(GJA1): c.-67C> G single nucleotide variant Likely benign rs111581053 GRCh38 Chromosome 6, 121435782: 121435782
18 GJA1 NM_000165.5(GJA1): c.*47A> G single nucleotide variant Uncertain significance rs886061010 GRCh38 Chromosome 6, 121448043: 121448043
19 GJA1 NM_000165.5(GJA1): c.*47A> G single nucleotide variant Uncertain significance rs886061010 GRCh37 Chromosome 6, 121769189: 121769189
20 GJA1 NM_000165.5(GJA1): c.*191G> A single nucleotide variant Uncertain significance rs886061012 GRCh38 Chromosome 6, 121448187: 121448187
21 GJA1 NM_000165.5(GJA1): c.*191G> A single nucleotide variant Uncertain significance rs886061012 GRCh37 Chromosome 6, 121769333: 121769333
22 GJA1 NM_000165.5(GJA1): c.*243A> G single nucleotide variant Likely benign rs139128953 GRCh38 Chromosome 6, 121448239: 121448239
23 GJA1 NM_000165.5(GJA1): c.*243A> G single nucleotide variant Likely benign rs139128953 GRCh37 Chromosome 6, 121769385: 121769385
24 GJA1 NM_000165.5(GJA1): c.*285A> T single nucleotide variant Likely benign rs72548748 GRCh38 Chromosome 6, 121448281: 121448281
25 GJA1 NM_000165.5(GJA1): c.*285A> T single nucleotide variant Likely benign rs72548748 GRCh37 Chromosome 6, 121769427: 121769427
26 GJA1 NM_000165.5(GJA1): c.*1077T> C single nucleotide variant Likely benign rs528853645 GRCh37 Chromosome 6, 121770219: 121770219
27 GJA1 NM_000165.5(GJA1): c.*1077T> C single nucleotide variant Likely benign rs528853645 GRCh38 Chromosome 6, 121449073: 121449073
28 GJA1 NM_000165.5(GJA1): c.*1101T> C single nucleotide variant Uncertain significance rs886061022 GRCh37 Chromosome 6, 121770243: 121770243
29 GJA1 NM_000165.5(GJA1): c.*1101T> C single nucleotide variant Uncertain significance rs886061022 GRCh38 Chromosome 6, 121449097: 121449097
30 GJA1 NM_000165.5(GJA1): c.-161G> T single nucleotide variant Uncertain significance rs764033415 GRCh37 Chromosome 6, 121756834: 121756834
31 GJA1 NM_000165.5(GJA1): c.-161G> T single nucleotide variant Uncertain significance rs764033415 GRCh38 Chromosome 6, 121435688: 121435688
32 GJA1 NM_000165.5(GJA1): c.-16-12T> A single nucleotide variant Likely benign rs56199702 GRCh38 Chromosome 6, 121446820: 121446820
33 GJA1 NM_000165.5(GJA1): c.-16-12T> A single nucleotide variant Likely benign rs56199702 GRCh37 Chromosome 6, 121767966: 121767966
34 GJA1 NM_000165.5(GJA1): c.*163G> A single nucleotide variant Uncertain significance rs886061011 GRCh38 Chromosome 6, 121448159: 121448159
35 GJA1 NM_000165.5(GJA1): c.*163G> A single nucleotide variant Uncertain significance rs886061011 GRCh37 Chromosome 6, 121769305: 121769305
36 GJA1 NM_000165.5(GJA1): c.*772_*773dup duplication Likely benign rs397698276 GRCh38 Chromosome 6, 121448768: 121448769
37 GJA1 NM_000165.5(GJA1): c.*772_*773dup duplication Likely benign rs397698276 GRCh37 Chromosome 6, 121769914: 121769915
38 GJA1 NM_000165.4(GJA1): c.*773delT deletion Uncertain significance rs397698276 GRCh38 Chromosome 6, 121448769: 121448769
39 GJA1 NM_000165.4(GJA1): c.*773delT deletion Uncertain significance rs397698276 GRCh37 Chromosome 6, 121769915: 121769915
40 GJA1 NM_000165.5(GJA1): c.*773dup duplication Benign rs397698276 GRCh38 Chromosome 6, 121448769: 121448769
41 GJA1 NM_000165.5(GJA1): c.*773dup duplication Benign rs397698276 GRCh37 Chromosome 6, 121769915: 121769915
42 GJA1 NM_000165.5(GJA1): c.*968T> C single nucleotide variant Benign rs111878880 GRCh38 Chromosome 6, 121448964: 121448964
43 DLL3 NM_016941.3(DLL3): c.1674-10C> T single nucleotide variant Benign/Likely benign rs116099821 GRCh37 Chromosome 19, 39998460: 39998460
44 DLL3 NM_016941.3(DLL3): c.1674-10C> T single nucleotide variant Benign/Likely benign rs116099821 GRCh38 Chromosome 19, 39507820: 39507820
45 DLL3 NM_016941.3(DLL3): c.1562C> T (p.Ser521Phe) single nucleotide variant Likely benign rs191149379 GRCh37 Chromosome 19, 39998147: 39998147
46 DLL3 NM_016941.3(DLL3): c.1562C> T (p.Ser521Phe) single nucleotide variant Likely benign rs191149379 GRCh38 Chromosome 19, 39507507: 39507507
47 DLL3 NM_016941.3(DLL3): c.1029C> T (p.Pro343=) single nucleotide variant Benign rs2304214 GRCh38 Chromosome 19, 39505387: 39505387
48 DLL3 NM_016941.3(DLL3): c.1029C> T (p.Pro343=) single nucleotide variant Benign rs2304214 GRCh37 Chromosome 19, 39996027: 39996027
49 DLL3 NM_016941.3(DLL3): c.546C> G (p.Ala182=) single nucleotide variant Benign rs8106337 GRCh37 Chromosome 19, 39993591: 39993591
50 DLL3 NM_016941.3(DLL3): c.546C> G (p.Ala182=) single nucleotide variant Benign rs8106337 GRCh38 Chromosome 19, 39502951: 39502951

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.
Sources

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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