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SD1
MCID: CHR619
MIFTS: 64

Chromosome 2q35 Duplication Syndrome (SD1)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Chromosome 2q35 Duplication Syndrome

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MalaCards integrated aliases for Chromosome 2q35 Duplication Syndrome:

Name: Chromosome 2q35 Duplication Syndrome 57 12 12
Syndactyly 12 73 20 36 54 44 15 32
Syndactyly Type 1 12 20 58 29 15
Non-Syndromic Syndactyly 20 58 29 6
Sdty1 57 12 20
Syndactyly, Type 1, with or Without Craniosynostosis 57 12
Syndactyly, Type I 57 70
Zygodactyly 57 20
Sd1 57 20
Craniosynostosis, Philadelphia Type 58
Syndactyly, Type I; Sdty1 57
Syndactyly, Type 1 13
Webbing of Digits 12
Symphalangism 12
Symphalangy 12

Characteristics:

Orphanet epidemiological data:

58
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 (Updated 20-May-2021)
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:

31
chromosome 2q35 duplication syndrome:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases Genetic diseases
Anatomical: Bone diseases
See all MalaCards categories (disease lists)
ICD10: 32 33
Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0111816 DOID:11193
OMIM® 57 185900
KEGG 36 H01095
ICD9CM 34 755.1
MeSH 44 D013576
NCIt 50 C87125
SNOMED-CT 67 156989004
ICD10 32 Q70 Q70.9
MESH via Orphanet 45 D013576
ICD10 via Orphanet 33 Q70.0 Q70.1 Q70.2 more
UMLS via Orphanet 71 C0039075 C1832590 C1861380
MedGen 41 C1861380
UMLS 70 C0039075 C1861380
Sources

Summaries for Chromosome 2q35 Duplication Syndrome

About this section
GARD : 20 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 gene mutation 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 syndactyly, type iii and syndactyly, type iv. An important gene associated with Chromosome 2q35 Duplication Syndrome is CUP2Q35 (Syndactyly, Type I), and among its related pathways/superpathways are Gap junction and Phospholipase-C Pathway. The drugs Clonidine and Adrenergic alpha-Agonists have been mentioned in the context of this disorder. Affiliated tissues include skin, heart and bone, and related phenotypes are craniosynostosis and finger syndactyly

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

KEGG : 36 Syndactyly (SDTY) is the common hereditary limb malformations depicting the fusion of certain fingers and/or toes. At least nine non-syndromic syndactylies with additional sub-types have been characterized. Most of the syndactyly types are inherited as autosomal dominant but two autosomal recessive and an X-linked recessive entity have also been described.

Wikipedia : 73 Syndactyly is a condition wherein two or more digits are fused together. It occurs normally in some... more...

More information 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 535)
# Related Disease Score Top Affiliating Genes
1 syndactyly, type iii 33.4 ZP2 LMBR1 GJA1 FRAS1
2 syndactyly, type iv 33.3 ZP2 LMBR1 IQCE HOXD13 GLI3
3 syndactyly, type v 32.9 HOXD13 GJA1
4 fraser syndrome 1 32.9 GRIP1 FREM2 FRAS1
5 greig cephalopolysyndactyly syndrome 32.8 ZP2 LMBR1 IQCE GLI3
6 metacarpal 4-5 fusion 32.6 LMBR1 FGF8
7 carpenter syndrome 1 32.6 GLI3 FGFR3 FGFR2
8 zygodactyly 1 32.5 ZP2 ZD1 FREM2 FRAS1
9 apert syndrome 32.5 GLI3 FGFR3 FGFR2 FGF8
10 pfeiffer syndrome 32.4 GLI3 FGFR3 FGFR2 FGF8
11 pallister-hall syndrome 32.3 HOXD13 GLI3 FGF8
12 lacrimoauriculodentodigital syndrome 32.2 FGFR3 FGFR2 FGF8
13 brachydactyly 32.1 TULP1 IQCE IHH HOXD13 FGFR3
14 split-hand/foot malformation 1 32.0 TP63 FGFR2
15 brachydactyly, type a4 31.9 IHH HOXD13
16 ankyloblepharon-ectodermal defects-cleft lip/palate 31.9 TP63 FRAS1 FGFR2
17 jackson-weiss syndrome 31.9 FGFR3 FGFR2 FGF8
18 acrocallosal syndrome 31.8 IQCE IHH GLI3
19 van der woude syndrome 1 31.8 TP63 FGFR2 FGF8
20 culler-jones syndrome 31.6 IHH GLI3
21 cryptophthalmos 31.3 GRIP1 FREM2 FRAS1
22 ectodermal dysplasia 31.2 TP63 GJA1 FGFR3 FGFR2
23 craniosynostosis 31.1 IHH GLI3 FGFR3 FGFR2 FGF8
24 synpolydactyly 30.9 LMBR1 HOXD13 GLI3 FBLN1
25 cleft palate, isolated 30.8 TP63 IHH GLI3 FREM2 FRAS1 FGFR3
26 dysostosis 30.8 IHH HOXD13 GLI3 FGFR3 FGFR2
27 osteochondrodysplasia 30.8 LMBR1 IHH GJA1 FGFR3 FGFR2 FGF8
28 polydactyly 30.7 LMBR1 IQCE HOXD13 GLI3
29 polydactyly, postaxial, type a1 30.7 TULP1 IQCE GLI3
30 synostosis 30.6 LMBR1 IHH HOXD13 GLI3 FREM2 FRAS1
31 fgfr craniosynostosis syndromes 30.6 FGFR3 FGFR2
32 du pan syndrome 30.5 ZP2 IHH FGF8
33 tooth agenesis 30.5 TP63 GLI3 FGFR2 FGF8
34 hypospadias 30.5 HOXD13 FGFR2 FGF8
35 skin tag 30.4 IQCE GLI3 FGFR2
36 tibia, hypoplasia or aplasia of, with polydactyly 30.4 ZP2 LMBR1 HOXD13 GLI3
37 townes-brocks syndrome 30.4 HOXD13 GLI3 FRAS1 FGF8
38 thanatophoric dysplasia, type i 30.3 IHH FGFR3 FGFR2 FGF8
39 renal hypodysplasia/aplasia 1 30.3 HOXD13 GRIP1 FREM2 FRAS1 FGFR2 FGF8
40 kallmann syndrome 30.3 IHH GLI3 FGFR3 FGFR2 FGF8
41 cenani-lenz syndactyly syndrome 11.7
42 toe syndactyly, telecanthus, and anogenital and renal malformations 11.6
43 symphalangism, proximal, 1a 11.5
44 ectodermal dysplasia-syndactyly syndrome 1 11.5
45 multiple synostoses syndrome 1 11.5
46 cleft lip/palate-ectodermal dysplasia syndrome 11.5
47 symphalangism, proximal, 1b 11.4
48 timothy syndrome 11.4
49 microphthalmia with limb anomalies 11.4
50 saethre-chotzen syndrome 11.4

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:

58 31 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 craniosynostosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001363
2 finger syndactyly 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0006101
3 toe syndactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001770
4 long palpebral fissure 58 31 hallmark (90%) Very frequent (99-80%) HP:0000637
5 symphalangism affecting the phalanges of the hand 58 31 occasional (7.5%) Occasional (29-5%) HP:0009773
6 sagittal craniosynostosis 31 occasional (7.5%) HP:0004442
7 2-3 toe syndactyly 31 HP:0004691
8 3-4 finger syndactyly 31 HP:0006097
9 cutaneous syndactyly 31 HP:0012725
10 distal symphalangism of hands 31 HP:0001204

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Chromosome 2q35 Duplication Syndrome:

46 (show all 19)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.43 FBLN1 FBN2 FGF8 FGFR2 FGFR3 FRAS1
2 cellular MP:0005384 10.39 FBLN1 FBN2 FGF8 FGFR2 FGFR3 FRAS1
3 cardiovascular system MP:0005385 10.36 FBLN1 FBN2 FGF8 FGFR2 FRAS1 FREM2
4 craniofacial MP:0005382 10.35 FBLN1 FBN2 FGF8 FGFR2 FGFR3 FRAS1
5 limbs/digits/tail MP:0005371 10.35 FBLN1 FBN2 FGF8 FGFR2 FGFR3 FRAS1
6 mortality/aging MP:0010768 10.33 FBLN1 FBN2 FGF8 FGFR2 FGFR3 FRAS1
7 embryo MP:0005380 10.29 FBLN1 FGF8 FGFR2 FREM2 GJA1 GLI3
8 endocrine/exocrine gland MP:0005379 10.24 FBLN1 FGF8 FGFR2 GJA1 GLI3 HOXD13
9 integument MP:0010771 10.24 FBLN1 FBN2 FGFR2 FGFR3 FRAS1 FREM2
10 hearing/vestibular/ear MP:0005377 10.21 FBLN1 FBN2 FGF8 FGFR2 FGFR3 FREM2
11 nervous system MP:0003631 10.18 FBLN1 FBN2 FGF8 FGFR2 FGFR3 FREM2
12 digestive/alimentary MP:0005381 10.16 FGF8 FGFR2 FGFR3 FRAS1 GLI3 HOXD13
13 renal/urinary system MP:0005367 10.1 FBLN1 FBN2 FGF8 FGFR2 FGFR3 FRAS1
14 muscle MP:0005369 10.09 FBLN1 FBN2 FGF8 FGFR2 FREM2 GJA1
15 no phenotypic analysis MP:0003012 10.02 FGFR2 FGFR3 FRAS1 GJA1 GLI3 HOXD13
16 reproductive system MP:0005389 10 FBN2 FGF8 FGFR2 FGFR3 FREM2 GJA1
17 respiratory system MP:0005388 9.93 FBLN1 FBN2 FGF8 FGFR2 FGFR3 FRAS1
18 skeleton MP:0005390 9.83 FBLN1 FBN2 FGF8 FGFR2 FGFR3 FRAS1
19 vision/eye MP:0005391 9.5 FBLN1 FBN2 FGF8 FGFR2 FGFR3 FRAS1
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 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Clonidine Approved Phase 4 4205-90-7 2803
2 Adrenergic alpha-Agonists Phase 4
3 Adrenergic Agonists Phase 4
4 Pharmaceutical Solutions Phase 4
5 Adrenergic Agents Phase 4
6 Neurotransmitter Agents Phase 4
7 Antihypertensive Agents Phase 4
8 Analgesics Phase 4
9 Sympatholytics Phase 4

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Clonidine for Tourniquet-related Pain in Children: A Pilot Study Not yet recruiting NCT04564430 Phase 4 Catapresan
2 Syndactyly Repair: Comparison of Skin Graft and No Skin Graft Techniques Completed NCT01416090
3 Genetic Analysis of Craniosynostosis, Philadelphia Type (OMIM 601222) Completed NCT00367796
4 A Randomized, Open-label Trial to Compare the Functional and Radiological Results of Syndactyly Versus Closed Reduction and Immobilization in Patients With 5th Metacarpal Neck Fracture Completed NCT03434587
5 Web-based Digital-storytelling Intervention for Rural-dwelling Children With Life-threatening Conditions Recruiting NCT04665479
6 Level of Agreement Between Clinical Defocus Curves and the Near and Intermediate Vision Web-based Democritus Digital Acuity Reading Test wDDART: a Comparative Study Recruiting NCT04739085
7 Comparison of Scar Formation in Syndactyly Release Surgery With Full Thickness Skin Graft Versus Skin Graft Substitute Active, not recruiting NCT03107546
8 Development and Validation of a Web-based Digital Distance Visual Acuity Test Active, not recruiting NCT04756596
9 Effectiveness of a Web-based, Digital Health Platform Combining Social Care and Respiratory Coach Support to Improve Adherence to Treatment and Symptom Control in Children and Adolescents With Difficult-to-control Asthma Not yet recruiting NCT04166344
10 Treatment of Proximal Interphalangeal Joint Injuries. Comparative Study of the Clinical Efficiency and Cost of Syndactyly Treatment Versus Immobilization and Compression Versus no Compression Terminated NCT02548260

Search NIH Clinical Center for Chromosome 2q35 Duplication Syndrome

Cochrane evidence based reviews: syndactyly

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Genetic Tests for Chromosome 2q35 Duplication Syndrome

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Genetic tests related to Chromosome 2q35 Duplication Syndrome:

# Genetic test Affiliating Genes
1 Non-Syndromic Syndactyly 29
2 Syndactyly Type 1 29
Sources

Anatomical Context for Chromosome 2q35 Duplication Syndrome

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

40
Skin, Heart, Bone, Eye, Kidney, Brain, Uterus
Sources

Publications for Chromosome 2q35 Duplication Syndrome

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Articles related to Chromosome 2q35 Duplication Syndrome:

(show top 50) (show all 2306)
# Title Authors PMID Year
1
Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis. 57 61
21167467 2011
2
Locus homogeneity between syndactyly type 1A and craniosynostosis Philadelphia type? 61 57
18680190 2008
3
Evidence for clinical and genetic heterogeneity of syndactyly type I: the phenotype of second and third toe syndactyly maps to chromosome 3p21.31. 61 57
16189548 2005
4
A simple method for characterising syndactyly in clinical practice. 57 61
16261692 2005
5
Confirmation of genetic homogeneity of syndactyly type 1 in an Iranian family. 57 61
11746046 2001
6
Localization of a gene for syndactyly type 1 to chromosome 2q34-q36. 57 61
10877983 2000
7
Craniosynostosis, Philadelphia type: a new autosomal dominant syndrome with sagittal craniosynostosis and syndactyly of the fingers and toes. 61 57
8882401 1996
8
Syndactylies and polydactylies: embryological overview and suggested classification. 61 57
7915184 1993
9
Syndactyly: frequency of specific types. 61 57
6249121 1980
10
Hereditary syndactylia in a Chinese family. 57
5865199 1965
11
The problem of complete Y-linkage in man. 57
13469791 1957
12
Inheritance of zygodactyly. 57
20281709 1946
13
THE Y-CHROMOSOME TYPE OF SEXLINKED INHERITANCE IN MAN. 57
17751446 1922
14
Chiari type 1 malformation in an infant with type 2 Pfeiffer syndrome: further evidence of acquired pathogenesis. 54 61
20186072 2010
15
A Pro253Arg mutation in fibroblast growth factor receptor 2 (Fgfr2) causes skeleton malformation mimicking human Apert syndrome by affecting both chondrogenesis and osteogenesis. 61 54
18242159 2008
16
A novel mutation of p63 in a Chinese family with inherited syndactyly and adactylism. 61 54
17915261 2008
17
Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome. 61 54
17236141 2007
18
Molecular analysis of non-syndromic preaxial polydactyly: preaxial polydactyly type-IV and preaxial polydactyly type-I. 54 61
15811011 2005
19
A novel GJA1 mutation causes oculodentodigital dysplasia without syndactyly. 61 54
15637728 2005
20
Acute lymphoblastic leukemia in a patient with Greig cephalopolysyndactyly and interstitial deletion of chromosome 7 del(7)(p11.2 p14) involving the GLI3 and ZNFN1A1 genes. 54 61
15390181 2005
21
A soluble form of fibroblast growth factor receptor 2 (FGFR2) with S252W mutation acts as an efficient inhibitor for the enhanced osteoblastic differentiation caused by FGFR2 activation in Apert syndrome. 54 61
15310757 2004
22
Biochemical analysis of pathogenic ligand-dependent FGFR2 mutations suggests distinct pathophysiological mechanisms for craniofacial and limb abnormalities. 54 61
15282208 2004
23
A direct functional link between the multi-PDZ domain protein GRIP1 and the Fraser syndrome protein Fras1. 54 61
14730302 2004
24
An acceptor splice site mutation in HOXD13 results in variable hand, but consistent foot malformations. 54 61
12900906 2003
25
FGFs, their receptors, and human limb malformations: clinical and molecular correlations. 61 54
12357470 2002
26
The synpolydactyly homolog (spdh) mutation in the mouse -- a defect in patterning and growth of limb cartilage elements. 61 54
11850178 2002
27
Differential expression of fibroblast growth factor receptors in human digital development suggests common pathogenesis in complex acrosyndactyly and craniosynostosis. 54 61
11335797 2001
28
Mutation of the gene encoding fibrillin-2 results in syndactyly in mice. 54 61
11285249 2001
29
Craniosynostosis and related limb anomalies. 54 61
11277076 2001
30
Genotype-phenotype analysis in Apert syndrome suggests opposite effects of the two recurrent mutations on syndactyly and outcome of craniofacial surgery. 61 54
10735635 2000
31
De novo alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome. 61 54
9973282 1999
32
Thanatophoric dysplasia type I with syndactyly. 54 61
9843049 1998
33
Apert syndrome mutations in fibroblast growth factor receptor 2 exhibit increased affinity for FGF ligand. 61 54
9700203 1998
34
Presence of the Apert canonical S252W FGFR2 mutation in a patient without severe syndactyly. 54 61
9719378 1998
35
Point mutations in human GLI3 cause Greig syndrome. 54 61
9302279 1997
36
Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome. 54 61
8651276 1996
37
Of mice and Marfan: genetic linkage analyses of the fibrillin genes, Fbn1 and Fbn2, in the mouse genome. 54 61
7873879 1994
38
Clinical and molecular characterizations of 11 new patients with type 1 Feingold syndrome: Proposal for selecting diagnostic criteria and further genetic testing in patients with severe phenotype. 61
33442900 2021
39
Expanding the phenotype of CACNA1C mutation disorders. 61
33797204 2021
40
Dental and Craniofacial Characteristics in Patients With 14Q22.1-Q22.2 Deletion: A Case Series. 61
33063524 2021
41
Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator. 61
33568816 2021
42
Lower Extremity Reconstruction in the Pediatric Population. 61
33674055 2021
43
A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome. 61
33743206 2021
44
Long-term follow-up of a patient with type 2 Timothy syndrome and the partial efficacy of mexiletine. 61
33524520 2021
45
Satisfying Clinical and Functional Results in 12 Apert Children Treated With Soft Tissue Distractor. 61
33710128 2021
46
Slide tracheoplasty for tracheal cartilaginous sleeve in a patient with Apert syndrome. 61
33676902 2021
47
Aberrantly activated Wnt/β-catenin pathway co-receptors LRP5 and LRP6 regulate osteoblast differentiation in the developing coronal sutures of an Apert syndrome (Fgfr2S252W/+ ) mouse model. 61
32822074 2021
48
Apert syndrome: A case report of prenatal ultrasound, postmortem cranial CT, and molecular genetic analysis. 61
32954549 2021
49
Prevalence of Hand Malformations in Patients With Moebius Syndrome and Their Management. 61
33641474 2021
50
A novel homozygous RIPK4 variant in a family with severe Bartsocas-Papas syndrome. 61
33713555 2021
Sources

Variations for Chromosome 2q35 Duplication Syndrome

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ClinVar genetic disease variations for Chromosome 2q35 Duplication Syndrome:

6 (show top 50) (show all 77)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HOXD13 NM_000523.4(HOXD13):c.820C>T (p.Arg274Ter) SNV Pathogenic 374019 rs200750564 GRCh37: 2:176959246-176959246
GRCh38: 2:176094518-176094518
2 TULP1 NM_003322.6(TULP1):c.1198C>T (p.Arg400Trp) SNV Pathogenic 30261 rs387906836 GRCh37: 6:35471540-35471540
GRCh38: 6:35503763-35503763
3 overlap with 46 genes GRCh37/hg19 7p14.1-12.3(chr7:41124364-47945566) copy number loss Pathogenic 1047885 GRCh37: 7:41124364-47945566
GRCh38:
4 IQCE NM_152558.5(IQCE):c.895_904del (p.Val301fs) Deletion Pathogenic 638149 rs773701437 GRCh37: 7:2625907-2625916
GRCh38: 7:2586273-2586282
5 DLL3 NM_203486.3(DLL3):c.1123C>G (p.Leu375Val) SNV Uncertain significance 894205 GRCh37: 19:39997708-39997708
GRCh38: 19:39507068-39507068
6 DLL3 NM_203486.3(DLL3):c.1123C>T (p.Leu375=) SNV Uncertain significance 737861 rs777253263 GRCh37: 19:39997708-39997708
GRCh38: 19:39507068-39507068
7 DLL3 NM_203486.3(DLL3):c.1138C>T (p.Arg380Cys) SNV Uncertain significance 894206 GRCh37: 19:39997723-39997723
GRCh38: 19:39507083-39507083
8 DLL3 NM_203486.3(DLL3):c.1140C>G (p.Arg380=) SNV Uncertain significance 894207 GRCh37: 19:39997725-39997725
GRCh38: 19:39507085-39507085
9 DLL3 NM_203486.3(DLL3):c.1623G>A (p.Pro541=) SNV Uncertain significance 711080 rs200988915 GRCh37: 19:39998208-39998208
GRCh38: 19:39507568-39507568
10 DLL3 NM_203486.3(DLL3):c.1674-9C>T SNV Uncertain significance 894238 GRCh37: 19:39998461-39998461
GRCh38: 19:39507821-39507821
11 DLL3 NM_203486.3(DLL3):c.564G>T (p.Thr188=) SNV Uncertain significance 894549 GRCh37: 19:39993609-39993609
GRCh38: 19:39502969-39502969
12 DLL3 NM_203486.3(DLL3):c.583A>G (p.Ser195Gly) SNV Uncertain significance 894550 GRCh37: 19:39993628-39993628
GRCh38: 19:39502988-39502988
13 DLL3 NM_203486.3(DLL3):c.870+3C>T SNV Uncertain significance 894585 GRCh37: 19:39994931-39994931
GRCh38: 19:39504291-39504291
14 DLL3 NM_203486.3(DLL3):c.902C>T (p.Pro301Leu) SNV Uncertain significance 894586 GRCh37: 19:39995900-39995900
GRCh38: 19:39505260-39505260
15 DLL3 NM_203486.3(DLL3):c.933G>A (p.Val311=) SNV Uncertain significance 894587 GRCh37: 19:39995931-39995931
GRCh38: 19:39505291-39505291
16 DLL3 NM_203486.3(DLL3):c.1189G>C (p.Gly397Arg) SNV Uncertain significance 894612 GRCh37: 19:39997774-39997774
GRCh38: 19:39507134-39507134
17 DLL3 NM_203486.3(DLL3):c.1302C>T (p.Ala434=) SNV Uncertain significance 894613 GRCh37: 19:39997887-39997887
GRCh38: 19:39507247-39507247
18 DLL3 NM_203486.3(DLL3):c.1758+57C>T SNV Uncertain significance 515510 rs147582946 GRCh37: 19:39998611-39998611
GRCh38: 19:39507971-39507971
19 DLL3 NM_203486.3(DLL3):c.1759-97G>T SNV Uncertain significance 894636 GRCh37: 19:39998795-39998795
GRCh38: 19:39508155-39508155
20 DLL3 NM_203486.3(DLL3):c.343G>A (p.Ala115Thr) SNV Uncertain significance 893300 GRCh37: 19:39990105-39990105
GRCh38: 19:39499465-39499465
21 DLL3 NM_203486.3(DLL3):c.352-15C>T SNV Uncertain significance 811612 rs201902809 GRCh37: 19:39991240-39991240
GRCh38: 19:39500600-39500600
22 DLL3 NM_203486.3(DLL3):c.367A>G (p.Ile123Val) SNV Uncertain significance 893301 GRCh37: 19:39991270-39991270
GRCh38: 19:39500630-39500630
23 DLL3 NM_203486.3(DLL3):c.652+15C>T SNV Uncertain significance 893342 GRCh37: 19:39993712-39993712
GRCh38: 19:39503072-39503072
24 DLL3 NM_203486.3(DLL3):c.654G>A (p.Leu218=) SNV Uncertain significance 893343 GRCh37: 19:39994712-39994712
GRCh38: 19:39504072-39504072
25 DLL3 NM_203486.3(DLL3):c.1091A>G (p.Asn364Ser) SNV Uncertain significance 497714 rs142597040 GRCh37: 19:39996089-39996089
GRCh38: 19:39505449-39505449
26 DLL3 NM_203486.3(DLL3):c.1101C>T (p.Leu367=) SNV Uncertain significance 893379 GRCh37: 19:39997686-39997686
GRCh38: 19:39507046-39507046
27 DLL3 NM_203486.3(DLL3):c.1441C>G (p.Pro481Ala) SNV Uncertain significance 893400 GRCh37: 19:39998026-39998026
GRCh38: 19:39507386-39507386
28 DLL3 NM_203486.3(DLL3):c.1455C>T (p.Pro485=) SNV Uncertain significance 893401 GRCh37: 19:39998040-39998040
GRCh38: 19:39507400-39507400
29 DLL3 NM_203486.3(DLL3):c.1474C>G (p.Leu492Val) SNV Uncertain significance 893402 GRCh37: 19:39998059-39998059
GRCh38: 19:39507419-39507419
30 DLL3 NM_203486.3(DLL3):c.100A>T (p.Ile34Phe) SNV Uncertain significance 893094 GRCh37: 19:39989862-39989862
GRCh38: 19:39499222-39499222
31 DLL3 NM_203486.3(DLL3):c.153C>T (p.Ser51=) SNV Uncertain significance 260775 rs373980582 GRCh37: 19:39989915-39989915
GRCh38: 19:39499275-39499275
32 DLL3 NM_203486.3(DLL3):c.615C>T (p.Arg205=) SNV Uncertain significance 893125 GRCh37: 19:39993660-39993660
GRCh38: 19:39503020-39503020
33 DLL3 NM_203486.3(DLL3):c.478C>T (p.Arg160Trp) SNV Uncertain significance 894146 GRCh37: 19:39993523-39993523
GRCh38: 19:39502883-39502883
34 DLL3 NM_203486.3(DLL3):c.969C>T (p.Asn323=) SNV Uncertain significance 892563 GRCh37: 19:39995967-39995967
GRCh38: 19:39505327-39505327
35 DLL3 NM_203486.3(DLL3):c.982G>T (p.Val328Phe) SNV Uncertain significance 499140 rs749513254 GRCh37: 19:39995980-39995980
GRCh38: 19:39505340-39505340
36 DLL3 NM_203486.3(DLL3):c.984C>T (p.Val328=) SNV Uncertain significance 892564 GRCh37: 19:39995982-39995982
GRCh38: 19:39505342-39505342
37 DLL3 NM_203486.3(DLL3):c.1362T>C (p.Ala454=) SNV Uncertain significance 892589 GRCh37: 19:39997947-39997947
GRCh38: 19:39507307-39507307
38 DLL3 NM_203486.3(DLL3):c.1378A>G (p.Met460Val) SNV Uncertain significance 892590 GRCh37: 19:39997963-39997963
GRCh38: 19:39507323-39507323
39 DLL3 NM_203486.3(DLL3):c.452G>A (p.Arg151His) SNV Uncertain significance 329231 rs768310008 GRCh37: 19:39993497-39993497
GRCh38: 19:39502857-39502857
40 DLL3 NM_203486.3(DLL3):c.1066C>T (p.Arg356Trp) SNV Uncertain significance 289692 rs146274789 GRCh37: 19:39996064-39996064
GRCh38: 19:39505424-39505424
41 DLL3 NM_203486.3(DLL3):c.779C>A (p.Pro260His) SNV Uncertain significance 329234 rs748649010 GRCh37: 19:39994837-39994837
GRCh38: 19:39504197-39504197
42 DLL3 NM_203486.3(DLL3):c.1759-31C>G SNV Uncertain significance 892623 GRCh37: 19:39998861-39998861
GRCh38: 19:39508221-39508221
43 GJA1 NM_000165.5(GJA1):c.*773del Deletion Uncertain significance 355178 rs397698276 GRCh37: 6:121769906-121769906
GRCh38: 6:121448760-121448760
44 DLL3 NM_203486.3(DLL3):c.1759-162A>G SNV Uncertain significance 329241 rs886054434 GRCh37: 19:39998730-39998730
GRCh38: 19:39508090-39508090
45 DLL3 NM_203486.3(DLL3):c.939G>A (p.Gly313=) SNV Uncertain significance 329235 rs150100958 GRCh37: 19:39995937-39995937
GRCh38: 19:39505297-39505297
46 DLL3 NM_203486.3(DLL3):c.-12dup Duplication Uncertain significance 329230 rs747003629 GRCh37: 19:39989596-39989597
GRCh38: 19:39498956-39498957
47 DLL3 NM_203486.3(DLL3):c.1759-53A>G SNV Uncertain significance 329242 rs762786941 GRCh37: 19:39998839-39998839
GRCh38: 19:39508199-39508199
48 DLL3 NM_203486.3(DLL3):c.1383A>C (p.Gly461=) SNV Uncertain significance 329239 rs886054433 GRCh37: 19:39997968-39997968
GRCh38: 19:39507328-39507328
49 GJA1 NM_000165.5(GJA1):c.*1020_*1021del Deletion Uncertain significance 355181 rs375943953 GRCh37: 6:121770155-121770156
GRCh38: 6:121449009-121449010
50 DLL3 NM_203486.3(DLL3):c.1030G>C (p.Gly344Arg) SNV Uncertain significance 329236 rs530857183 GRCh37: 19:39996028-39996028
GRCh38: 19:39505388-39505388

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

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

Expression for Chromosome 2q35 Duplication Syndrome

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

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

36
# 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
Phospholipase-C Pathway 63
Show member pathways
 12.69 FREM2 FRAS1 FGFR3 FGFR2 FGF8 FBN2
2
Neural Crest Differentiation 1
11.59 FGFR3 FGFR2 FGF8
3
Endochondral Ossification 1
11.25 IHH GLI3 FGFR3
4
Hedgehog signaling pathway (KEGG) 36
11.08 IQCE IHH GLI3
5
G-protein signaling_Rap2B regulation pathway 23
10.34 FREM2 FRAS1 FGFR3 FGFR2 FGF8 FBN2
6
Tgif disruption of Shh signaling 1
10.32 GLI3 FGF8
7
Hedgehog Signaling Pathway (WikiPathways) 1
Show member pathways
 10.08 STK36 IHH GLI3
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 extracellular region GO:0005576 9.61 ZP2 TULP1 STK36 IHH FGFR3 FGFR2
2 basement membrane GO:0005604 9.33 FREM2 FRAS1 FBLN1
3 collagen-containing extracellular matrix GO:0062023 9.02 ZP2 FRAS1 FGFR2 FBN2 FBLN1

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

(show all 33)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 10.01 TP63 STK36 IHH HOXD13 FREM2 FGFR3
2 heart development GO:0007507 9.94 GLI3 GJA1 FREM2 FGF8
3 cell-cell signaling GO:0007267 9.92 IHH GJA1 FGFR3 FGFR2
4 lung development GO:0030324 9.83 GLI3 FGFR2 FGF8
5 fibroblast growth factor receptor signaling pathway GO:0008543 9.81 FGFR3 FGFR2 FGF8
6 skeletal system development GO:0001501 9.8 TP63 IHH HOXD13 FGFR3
7 positive regulation of osteoblast differentiation GO:0045669 9.77 TP63 GLI3 FBN2
8 smoothened signaling pathway GO:0007224 9.76 STK36 IHH GLI3
9 camera-type eye development GO:0043010 9.75 IHH GLI3 FBN2
10 bone development GO:0060348 9.72 GJA1 FGFR2 FGF8
11 cell communication GO:0007154 9.69 GJA1 FREM2 FRAS1
12 anatomical structure formation involved in morphogenesis GO:0048646 9.66 TP63 GLI3
13 male genitalia development GO:0030539 9.65 HOXD13 FGF8
14 chondrocyte proliferation GO:0035988 9.65 IHH FGFR3
15 branching involved in salivary gland morphogenesis GO:0060445 9.64 FGFR2 FGF8
16 positive regulation of alpha-beta T cell differentiation GO:0046638 9.63 IHH GLI3
17 embryonic neurocranium morphogenesis GO:0048702 9.62 GLI3 FGF8
18 gland morphogenesis GO:0022612 9.61 HOXD13 FGFR2
19 positive regulation of phospholipase activity GO:0010518 9.61 FGFR3 FGFR2
20 endochondral bone growth GO:0003416 9.6 FGFR3 FGFR2
21 otic vesicle formation GO:0030916 9.57 FGFR2 FGF8
22 forebrain dorsal/ventral pattern formation GO:0021798 9.56 GLI3 FGF8
23 pattern specification process GO:0007389 9.56 TP63 IHH HOXD13 GLI3
24 embryonic digit morphogenesis GO:0042733 9.55 LMBR1 IHH HOXD13 GLI3 FREM2
25 prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis GO:0060527 9.54 HOXD13 FGFR2
26 embryonic digestive tract morphogenesis GO:0048557 9.54 IHH GLI3 FGFR2
27 subpallium development GO:0021544 9.52 GLI3 FGF8
28 prostate gland development GO:0030850 9.5 TP63 HOXD13 GLI3
29 negative regulation of alpha-beta T cell differentiation GO:0046639 9.48 IHH GLI3
30 pallium development GO:0021543 9.46 GLI3 FGF8
31 squamous basal epithelial stem cell differentiation involved in prostate gland acinus development GO:0060529 9.43 TP63 FGFR2
32 embryonic limb morphogenesis GO:0030326 9.35 TP63 HOXD13 GLI3 FRAS1 FBN2
33 limb morphogenesis GO:0035108 9.02 IQCE HOXD13 GLI3 FGF8 FBN2

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

# Name GO ID Score Top Affiliating Genes
1 beta-catenin binding GO:0008013 9.13 GRIP1 GLI3 GJA1
2 fibroblast growth factor-activated receptor activity GO:0005007 8.62 FGFR3 FGFR2
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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 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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