MCID: CHR619
MIFTS: 55

Chromosome 2q35 Duplication Syndrome

Categories: Rare diseases, Bone diseases, Fetal 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
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 apert syndrome. 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 Menthol and Interferon beta-1a have been mentioned in the context of this disorder. Affiliated tissues include heart, bone and prostate, and related phenotypes are long palpebral fissure and craniosynostosis

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

Wikipedia : 76 Syndactyly (from Greek συν- meaning \"together\" and δακτυλος 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 85)
# Related Disease Score Top Affiliating Genes
1 synpolydactyly 33.6 GLI3 HOXA13 HOXD13
2 apert syndrome 32.2 FGFR2 FGFR3 GLI3
3 synostosis 30.0 FGFR2 FGFR3 GLI3 NOG
4 choanal atresia, posterior 29.6 FGFR2 SATB2
5 syndactyly, type iii 12.5
6 syndactyly, mesoaxial synostotic, with phalangeal reduction 12.4
7 syndactyly, type v 12.4
8 proximal symphalangism 12.4
9 cenani-lenz syndactyly syndrome 12.4
10 syndactyly, type iv 12.4
11 brachydactyly-syndactyly syndrome 12.3
12 craniosynostosis philadelphia type 12.3
13 toe syndactyly, telecanthus, and anogenital and renal malformations 12.3
14 ectodermal dysplasia-syndactyly syndrome 1 12.3
15 symphalangism, distal 12.3
16 symphalangism, proximal, 1a 12.2
17 symphalangism, proximal, 1b 12.2
18 symphalangism with multiple anomalies of hands and feet 12.1
19 blepharophimosis with ptosis, syndactyly, and short stature 12.1
20 symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch 12.0
21 syndactyly-polydactyly-earlobe syndrome 12.0
22 ectodermal dysplasia-syndactyly syndrome 2 12.0
23 syndactyly type 6 12.0
24 coronal synostosis, syndactyly and jejunal atresia 11.9
25 multiple synostoses syndrome 1 11.9
26 thai symphalangism syndrome 11.9
27 ectodermal dysplasia with mental retardation and syndactyly 11.9
28 brachydactyly-distal symphalangism syndrome 11.8
29 eyebrows, duplication of, with stretchable skin and syndactyly 11.8
30 aphalangia, partial, with syndactyly and duplication of metatarsal iv 11.8
31 synpolydactyly 1 11.8
32 symphalangism of toes 11.8
33 symphalangism, c. s. lewis type 11.8
34 symphalangism brachydactyly craniosynostosis 11.8
35 symphalangism short stature accessory testis 11.8
36 tracheoesophageal fistula symphalangism 11.8
37 sillence syndrome 11.5
38 stapes ankylosis with broad thumbs and toes 11.4
39 brachydactyly, type b1 11.3
40 filippi syndrome 11.3
41 photomyoclonus, diabetes mellitus, deafness, nephropathy, and cerebral dysfunction 11.2
42 tarsal-carpal coalition syndrome 11.1
43 multiple synostoses syndrome 11.1
44 brachydactyly, type b2 11.1
45 acrofacial dysostosis, palagonia type 11.1
46 lenz-majewski hyperostotic dwarfism 11.0
47 zygodactyly 1 10.9
48 mesomelia-synostoses syndrome 10.9
49 hemifacial hyperplasia 10.8 FGFR2 FGFR3
50 theodor hertz goodman syndrome 10.8

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 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 long palpebral fissure 59 32 hallmark (90%) Very frequent (99-80%) HP:0000637
2 craniosynostosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001363
3 finger syndactyly 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0006101
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 distal symphalangism of hands 32 HP:0001204
7 sagittal craniosynostosis 32 occasional (7.5%) HP:0004442
8 2-3 toe syndactyly 32 HP:0004691
9 3-4 finger syndactyly 32 HP:0006097

MGI Mouse Phenotypes related to Chromosome 2q35 Duplication Syndrome:

46 (show all 18)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.43 FREM2 GJA1 GLI3 GRIP1 HOXA13 HOXD13
2 mortality/aging MP:0010768 10.39 HOXD13 LMBR1 NOG SATB2 TP63 CCNQ
3 limbs/digits/tail MP:0005371 10.38 GJA1 GLI3 GRIP1 HOXA13 HOXD13 LMBR1
4 cardiovascular system MP:0005385 10.35 GLI3 GRIP1 HOXA13 NOG PIK3R2 SATB2
5 embryo MP:0005380 10.29 FBXW4 FGFR2 FREM2 GJA1 GLI3 GRIP1
6 craniofacial MP:0005382 10.27 FGFR2 SATB2 TP63 FGFR3 FRAS1 FREM1
7 integument MP:0010771 10.27 FGFR2 FGFR3 FRAS1 FREM1 FREM2 GJA1
8 digestive/alimentary MP:0005381 10.26 FGFR2 FGFR3 FRAS1 FREM1 GLI3 HOXA13
9 endocrine/exocrine gland MP:0005379 10.19 FGFR2 FREM1 GJA1 GLI3 HOXA13 HOXD13
10 muscle MP:0005369 10.09 FBN2 FGFR2 FREM1 FREM2 GJA1 HOXD13
11 renal/urinary system MP:0005367 10.06 FGFR2 FGFR3 FRAS1 FREM1 FREM2 GLI3
12 no phenotypic analysis MP:0003012 10.01 HOXD13 TP63 FBXW4 FGFR2 FGFR3 FRAS1
13 hearing/vestibular/ear MP:0005377 9.99 FGFR2 FGFR3 FREM2 GJA1 GLI3 NOG
14 normal MP:0002873 9.97 FGFR2 FGFR3 FREM1 GJA1 GLI3 LMBR1
15 reproductive system MP:0005389 9.96 GLI3 HOXA13 HOXD13 NOG TP63 FGFR2
16 respiratory system MP:0005388 9.9 GJA1 GLI3 NOG SATB2 TP63 FBN2
17 skeleton MP:0005390 9.83 FBN2 FBXW4 FGFR2 FGFR3 FRAS1 FREM1
18 vision/eye MP:0005391 9.44 FREM1 FREM2 GJA1 GLI3 GRIP1 HOXA13

Drugs & Therapeutics for Chromosome 2q35 Duplication Syndrome

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

(show all 45)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Menthol Approved Phase 3 2216-51-5 16666
2
Interferon beta-1a Approved, Investigational Phase 2 145258-61-3 6438354
3
Vitamin D Approved, Nutraceutical, Vet_approved Phase 2 1406-16-2
4
Glycopyrrolate Phase 1, Phase 2 596-51-0 3494
5 Tiotropium Bromide Phase 1, Phase 2 136310-93-5
6 Calcifediol Phase 2 19356-17-3
7 interferons Phase 2
8 Respiratory System Agents Phase 1, Phase 2
9 Adjuvants, Anesthesia Phase 1, Phase 2
10 Adjuvants, Immunologic Phase 2
11 Micronutrients Phase 2
12 Cholinergic Agents Phase 1, Phase 2
13 Muscarinic Antagonists Phase 1, Phase 2
14 Cholinergic Antagonists Phase 1, Phase 2
15 Neurotransmitter Agents Phase 1, Phase 2
16 Anesthetics Phase 1, Phase 2,Not Applicable
17 Trace Elements Phase 2
18 Parasympatholytics Phase 1, Phase 2
19 Anti-Asthmatic Agents Phase 1, Phase 2
20 Hydroxycholecalciferols Phase 2
21 Peripheral Nervous System Agents Phase 1, Phase 2
22 Vitamins Phase 2
23 Anti-Infective Agents Phase 2
24 Interferon-beta Phase 2
25 Antiviral Agents Phase 2
26 Autonomic Agents Phase 1, Phase 2
27 Bromides Phase 1, Phase 2
28 Bone Density Conservation Agents Phase 2,Phase 1
29 Bronchodilator Agents Phase 1, Phase 2
30
Aminolevulinic acid Approved Phase 1 106-60-5 137
31
Teriparatide Approved, Investigational Phase 1 52232-67-4 16133850
32
Tadalafil Approved, Investigational Phase 1 171596-29-5 110635
33 Dermatologic Agents Phase 1
34 Photosensitizing Agents Phase 1
35 Vaccines Phase 1
36 Vasodilator Agents Phase 1
37 Phosphodiesterase 5 Inhibitors Phase 1
38 Phosphodiesterase Inhibitors Phase 1
39 Cola Nutraceutical Phase 1
40 Central Nervous System Depressants
41 Turmeric extract Not Applicable
42 Milk Thistle Nutraceutical Not Applicable
43 Tea Nutraceutical Not Applicable
44 Turmeric Nutraceutical Not Applicable
45 Ashwagandha Nutraceutical Not Applicable

Interventional clinical trials:

(show all 31)
# 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 Phase I Study of AK159 in Healthy Postmenopausal Women Completed NCT01935479 Phase 1 AK159;MN-10-T;Placebo
9 Clinical Study of AK159 in Healthy Postmenopausal Women Completed NCT01551602 Phase 1 AK159;MN-10-T;Placebo
10 Trial of Perioperative Tadalafil and Influenza Vaccination in Cancer Patients Undergoing Major Surgical Resection of a Primary Abdominal Malignancy Recruiting NCT02998736 Phase 1 Cialis
11 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 He Recruiting NCT02662712 Phase 1 JNJ-56136379;Placebo
12 Efficacy of Extracorporal Shock Wave Therapy in Patient With Chronic Non-bacterial Prostatitis / Chronic Pelvic Pain Syndrome Unknown status NCT01714830 Not Applicable
13 Shocking Therapy for Chronic Pelvic Pain Syndrome Unknown status NCT01828996 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 Shockwave Therapy of Chronic Diabetic Foot Ulcers Completed NCT02251418 Not Applicable
17 The Effects of Cold Water Immersion With Different Dosages (Duration and Temperature Variations) on Heart Rate Variability Post-exercise Recovery Completed NCT02499640 Not Applicable
18 The Effect of Protandim Supplementation on Oxidative Damage and Athletic Performance Completed NCT02172625 Not Applicable
19 The Effectiveness of AAD and IPV to Treat Hospitalized Infants (<2years) With Acute Viral Bronchiolitis. Completed NCT02126748 Not Applicable
20 Infants With Protein Sensitive Colitis Completed NCT01813526 Not Applicable
21 Seniors Health and Activity Research Program-Pilot Completed NCT00688155 Not Applicable
22 General Anesthesia and Autonomic Nervous System in Children Completed NCT02714777
23 An Interactive Preventive Health Record (IPHR) to Promote Patient-Centered Preventive Care Completed NCT00589173 Not Applicable
24 Cardiovascular Variability and Heart Rate Arousal Response in Idiopathic Hypersomnia Completed NCT02913651
25 Low-Intensity Extracorporeal Shock Wave Treatment for Erectile Dysfunction: A Randomized, Controlled, Double Blind Trial Recruiting NCT03006536 Not Applicable
26 Low-Intensity Extracorporeal Shockwave Therapy and Vacuum Erectile Device as a Treatment for Peyronies Disease. Recruiting NCT03530540 Not Applicable
27 Virtual Reality Based-therapy Applied to Physical Therapy in Cardiology. Recruiting NCT03377582 Not Applicable
28 Extracorporeal Shockwave Treatment for Greater Trochanteric Pain Syndrome Not yet recruiting NCT03338465 Not Applicable
29 Low-energy Extracorporeal Shockwave Treatment for Patients After Radical Prostatectomy Not yet recruiting NCT03192917 Not Applicable
30 Myocardial Damage and Music Study Not yet recruiting NCT03507361 Not Applicable
31 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
Heart, Bone, Prostate, Bone Marrow, Spinal Cord

Publications for Chromosome 2q35 Duplication Syndrome

Articles related to Chromosome 2q35 Duplication Syndrome:

# Title Authors Year
1
Identification of a missense HOXD13 mutation in a Chinese family with syndactyly type I-c using exome sequencing. ( 28498426 )
2017
2
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
3
Mesoaxial complete syndactyly and synostosis with hypoplastic thumbs: an unusual combination or homozygous expression of syndactyly type I? ( 9783716 )
1998
4
Syndactyly type I in six generations of a large Mexican family. ( 6312522 )
1983
5
Familial dermatoglyphic analysis in syndactyly type I. ( 6273467 )
1981

Variations for Chromosome 2q35 Duplication Syndrome

ClinVar genetic disease variations for Chromosome 2q35 Duplication Syndrome:

6
(show top 50) (show all 109)
# Gene Variation Type Significance SNP ID Assembly Location
1 GJA1 NM_000165.4(GJA1): c.*3dupA duplication Benign rs397824185 GRCh37 Chromosome 6, 121769145: 121769145
2 GJA1 NM_000165.4(GJA1): c.*3dupA duplication Benign rs397824185 GRCh38 Chromosome 6, 121447999: 121447999
3 DLL3 NM_016941.3(DLL3): c.546C> G (p.Ala182=) single nucleotide variant Benign rs8106337 GRCh38 Chromosome 19, 39502951: 39502951
4 DLL3 NM_016941.3(DLL3): c.546C> G (p.Ala182=) single nucleotide variant Benign rs8106337 GRCh37 Chromosome 19, 39993591: 39993591
5 DLL3 NM_016941.3(DLL3): c.1029C> T (p.Pro343=) single nucleotide variant Benign rs2304214 GRCh37 Chromosome 19, 39996027: 39996027
6 DLL3 NM_016941.3(DLL3): c.1029C> T (p.Pro343=) single nucleotide variant Benign rs2304214 GRCh38 Chromosome 19, 39505387: 39505387
7 DLL3 NM_016941.3(DLL3): c.1562C> T (p.Ser521Phe) single nucleotide variant Likely benign rs191149379 GRCh38 Chromosome 19, 39507507: 39507507
8 DLL3 NM_016941.3(DLL3): c.1562C> T (p.Ser521Phe) single nucleotide variant Likely benign rs191149379 GRCh37 Chromosome 19, 39998147: 39998147
9 DLL3 NM_016941.3(DLL3): c.1674-10C> T single nucleotide variant Benign/Likely benign rs116099821 GRCh38 Chromosome 19, 39507820: 39507820
10 DLL3 NM_016941.3(DLL3): c.1674-10C> T single nucleotide variant Benign/Likely benign rs116099821 GRCh37 Chromosome 19, 39998460: 39998460
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_000165.4(GJA1): c.-135C> T single nucleotide variant Likely benign rs539558089 GRCh37 Chromosome 6, 121756860: 121756860
15 GJA1 NM_000165.4(GJA1): c.-135C> T single nucleotide variant Likely benign rs539558089 GRCh38 Chromosome 6, 121435714: 121435714
16 GJA1 NM_000165.4(GJA1): c.-67C> G single nucleotide variant Likely benign rs111581053 GRCh37 Chromosome 6, 121756928: 121756928
17 GJA1 NM_000165.4(GJA1): c.-67C> G single nucleotide variant Likely benign rs111581053 GRCh38 Chromosome 6, 121435782: 121435782
18 GJA1 NM_000165.4(GJA1): c.*47A> G single nucleotide variant Uncertain significance rs886061010 GRCh37 Chromosome 6, 121769189: 121769189
19 GJA1 NM_000165.4(GJA1): c.*47A> G single nucleotide variant Uncertain significance rs886061010 GRCh38 Chromosome 6, 121448043: 121448043
20 GJA1 NM_000165.4(GJA1): c.*191G> A single nucleotide variant Uncertain significance rs886061012 GRCh37 Chromosome 6, 121769333: 121769333
21 GJA1 NM_000165.4(GJA1): c.*191G> A single nucleotide variant Uncertain significance rs886061012 GRCh38 Chromosome 6, 121448187: 121448187
22 GJA1 NM_000165.4(GJA1): c.*243A> G single nucleotide variant Likely benign rs139128953 GRCh37 Chromosome 6, 121769385: 121769385
23 GJA1 NM_000165.4(GJA1): c.*243A> G single nucleotide variant Likely benign rs139128953 GRCh38 Chromosome 6, 121448239: 121448239
24 GJA1 NM_000165.4(GJA1): c.*285A> T single nucleotide variant Likely benign rs72548748 GRCh37 Chromosome 6, 121769427: 121769427
25 GJA1 NM_000165.4(GJA1): c.*285A> T single nucleotide variant Likely benign rs72548748 GRCh38 Chromosome 6, 121448281: 121448281
26 GJA1 NM_000165.4(GJA1): c.*1077T> C single nucleotide variant Likely benign rs528853645 GRCh37 Chromosome 6, 121770219: 121770219
27 GJA1 NM_000165.4(GJA1): c.*1077T> C single nucleotide variant Likely benign rs528853645 GRCh38 Chromosome 6, 121449073: 121449073
28 GJA1 NM_000165.4(GJA1): c.*1101T> C single nucleotide variant Uncertain significance rs886061022 GRCh38 Chromosome 6, 121449097: 121449097
29 GJA1 NM_000165.4(GJA1): c.*1101T> C single nucleotide variant Uncertain significance rs886061022 GRCh37 Chromosome 6, 121770243: 121770243
30 GJA1 NM_000165.4(GJA1): c.-161G> T single nucleotide variant Uncertain significance rs764033415 GRCh37 Chromosome 6, 121756834: 121756834
31 GJA1 NM_000165.4(GJA1): c.-161G> T single nucleotide variant Uncertain significance rs764033415 GRCh38 Chromosome 6, 121435688: 121435688
32 GJA1 NM_000165.4(GJA1): c.-16-12T> A single nucleotide variant Likely benign rs56199702 GRCh37 Chromosome 6, 121767966: 121767966
33 GJA1 NM_000165.4(GJA1): c.-16-12T> A single nucleotide variant Likely benign rs56199702 GRCh38 Chromosome 6, 121446820: 121446820
34 GJA1 NM_000165.4(GJA1): c.*163G> A single nucleotide variant Uncertain significance rs886061011 GRCh37 Chromosome 6, 121769305: 121769305
35 GJA1 NM_000165.4(GJA1): c.*163G> A single nucleotide variant Uncertain significance rs886061011 GRCh38 Chromosome 6, 121448159: 121448159
36 GJA1 NM_000165.4(GJA1): c.*772_*773dupTT duplication Likely benign rs397698276 GRCh38 Chromosome 6, 121448768: 121448769
37 GJA1 NM_000165.4(GJA1): c.*772_*773dupTT duplication Likely benign rs397698276 GRCh37 Chromosome 6, 121769914: 121769915
38 GJA1 NM_000165.4(GJA1): c.*773delT deletion Uncertain significance rs886061017 GRCh38 Chromosome 6, 121448769: 121448769
39 GJA1 NM_000165.4(GJA1): c.*773delT deletion Uncertain significance rs886061017 GRCh37 Chromosome 6, 121769915: 121769915
40 GJA1 NM_000165.4(GJA1): c.*773dupT duplication Benign rs397698276 GRCh38 Chromosome 6, 121448769: 121448769
41 GJA1 NM_000165.4(GJA1): c.*773dupT duplication Benign rs397698276 GRCh37 Chromosome 6, 121769915: 121769915
42 GJA1 NM_000165.4(GJA1): c.*968T> C single nucleotide variant Benign rs111878880 GRCh38 Chromosome 6, 121448964: 121448964
43 GJA1 NM_000165.4(GJA1): c.*968T> C single nucleotide variant Benign rs111878880 GRCh37 Chromosome 6, 121770110: 121770110
44 GJA1 NM_000165.4(GJA1): c.*1043T> C single nucleotide variant Uncertain significance rs886061021 GRCh37 Chromosome 6, 121770185: 121770185
45 GJA1 NM_000165.4(GJA1): c.*1043T> C single nucleotide variant Uncertain significance rs886061021 GRCh38 Chromosome 6, 121449039: 121449039
46 GJA1 NM_000165.4(GJA1): c.-188G> T single nucleotide variant Uncertain significance rs886061008 GRCh37 Chromosome 6, 121756807: 121756807
47 GJA1 NM_000165.4(GJA1): c.-188G> T single nucleotide variant Uncertain significance rs886061008 GRCh38 Chromosome 6, 121435661: 121435661
48 GJA1 NM_000165.4(GJA1): c.270C> G (p.Leu90=) single nucleotide variant Uncertain significance rs886061009 GRCh37 Chromosome 6, 121768263: 121768263
49 GJA1 NM_000165.4(GJA1): c.270C> G (p.Leu90=) single nucleotide variant Uncertain significance rs886061009 GRCh38 Chromosome 6, 121447117: 121447117
50 GJA1 NM_000165.4(GJA1): c.456G> A (p.Leu152=) single nucleotide variant Likely benign rs72548741 GRCh37 Chromosome 6, 121768449: 121768449

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

GO Terms for Chromosome 2q35 Duplication Syndrome

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 31)
# Name GO ID Score Top Affiliating Genes
1 in utero embryonic development GO:0001701 9.89 FGFR2 GJA1 GLI3 NOG
2 multicellular organism development GO:0007275 9.85 FBXW4 FGFR2 FGFR3 FREM1 FREM2 HOXA13
3 phosphatidylinositol phosphorylation GO:0046854 9.81 FGFR2 FGFR3 PIK3R2
4 wound healing GO:0042060 9.81 FGFR2 GLI3 NOG
5 roof of mouth development GO:0060021 9.8 FRAS1 GLI3 SATB2
6 cartilage development GO:0051216 9.79 FBXW4 NOG SATB2
7 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.73 FGFR2 FGFR3 PIK3R2
8 skeletal system development GO:0001501 9.72 FGFR3 HOXA13 HOXD13 NOG TP63
9 limb development GO:0060173 9.71 FBXW4 GLI3 NOG
10 positive regulation of osteoblast differentiation GO:0045669 9.71 FBN2 GJA1 GLI3 TP63
11 positive regulation of mesenchymal cell proliferation GO:0002053 9.7 FBXW4 FGFR2 TP63
12 pattern specification process GO:0007389 9.67 GLI3 HOXD13 NOG TP63
13 negative regulation of cardiac muscle cell proliferation GO:0060044 9.65 GJA1 NOG
14 embryonic digestive tract morphogenesis GO:0048557 9.65 FGFR2 GLI3
15 limb morphogenesis GO:0035108 9.65 FBN2 GLI3 HOXD13
16 morphogenesis of an epithelium GO:0002009 9.64 FRAS1 FREM2
17 anatomical structure formation involved in morphogenesis GO:0048646 9.63 GLI3 NOG TP63
18 membranous septum morphogenesis GO:0003149 9.62 FGFR2 NOG
19 mesenchymal cell differentiation GO:0048762 9.62 FGFR2 NOG
20 gland morphogenesis GO:0022612 9.61 FGFR2 HOXD13
21 prostate gland development GO:0030850 9.61 GLI3 HOXD13 TP63
22 positive regulation of phospholipase activity GO:0010518 9.6 FGFR2 FGFR3
23 endochondral bone growth GO:0003416 9.58 FGFR2 FGFR3
24 regulation of branching involved in prostate gland morphogenesis GO:0060687 9.58 FGFR2 HOXD13
25 prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis GO:0060527 9.57 FGFR2 HOXD13
26 cell communication GO:0007154 9.56 FRAS1 FREM1 FREM2 GJA1
27 prostatic bud formation GO:0060513 9.55 NOG TP63
28 squamous basal epithelial stem cell differentiation involved in prostate gland acinus development GO:0060529 9.51 FGFR2 TP63
29 embryonic limb morphogenesis GO:0030326 9.43 FBN2 FBXW4 FRAS1 GLI3 HOXD13 TP63
30 embryonic digit morphogenesis GO:0042733 9.17 FBXW4 FREM2 GJA1 GLI3 HOXD13 LMBR1
31 positive regulation of transcription by RNA polymerase II GO:0045944 10.1 CCNQ FGFR2 GLI3 HOXD13 NOG PIK3R2

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

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

Sources for Chromosome 2q35 Duplication Syndrome

3 CDC
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10 dbSNP
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