SD1
MCID: CHR619
MIFTS: 62

Chromosome 2q35 Duplication Syndrome (SD1)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Chromosome 2q35 Duplication Syndrome

MalaCards integrated aliases for Chromosome 2q35 Duplication Syndrome:

Name: Chromosome 2q35 Duplication Syndrome 56 12 12
Syndactyly 12 74 52 36 54 15 32
Non-Syndromic Syndactyly 52 58 29 6
Syndactyly Type 1 12 52 58 29
Sdty1 56 12 52
Syndactyly, Type 1, with or Without Craniosynostosis 56 12
Syndactyly, Type I 56 71
Zygodactyly 56 52
Sd1 56 52
Craniosynostosis, Philadelphia Type 58
Syndactyly, Type I; Sdty1 56
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:

56
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:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0111816 DOID:11193
OMIM 56 185900
KEGG 36 H01095
ICD9CM 34 755.1
NCIt 49 C87125
SNOMED-CT 67 373413006
ICD10 32 Q70 Q70.9
MESH via Orphanet 44 D013576
ICD10 via Orphanet 33 Q70.0 Q70.1 Q70.2 more
UMLS via Orphanet 72 C0039075 C1832590 C1861380
MedGen 41 C1861380
UMLS 71 C0039075 C1861380

Summaries for Chromosome 2q35 Duplication Syndrome

NIH Rare Diseases : 52 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 v and fraser syndrome 1. An important gene associated with Chromosome 2q35 Duplication Syndrome is CUP2Q35 (Syndactyly, Type I), and among its related pathways/superpathways are Gap junction and Phospholipase-C Pathway. Affiliated tissues include skin, bone and eye, 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 : 74 Syndactyly is a condition wherein two or more digits are fused together. It occurs normally in some... more...

More information 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 520)
# Related Disease Score Top Affiliating Genes
1 syndactyly, type v 35.2 HOXD13 GJA1
2 fraser syndrome 1 34.2 GRIP1 FREM2 FREM1 FRAS1
3 saethre-chotzen syndrome 34.2 FREM1 FGFR3 FGFR2 CFAP47
4 greig cephalopolysyndactyly syndrome 34.1 LMBR1 IQCE HOXD13 GLI3
5 pfeiffer syndrome 33.2 GLI3 FGFR3 FGFR2
6 carpenter syndrome 1 33.1 GLI3 FGFR3 FGFR2
7 brachydactyly 33.0 TULP1 IQCE HOXD13 FGFR3
8 brachydactyly, type a4 33.0 HOXD13 FBN2
9 apert syndrome 32.9 GLI3 FGFR3 FGFR2 CFAP47
10 split-hand/foot malformation 3 32.6 TP63 BHLHA9
11 split-hand/foot malformation 6 32.5 TP63 BHLHA9
12 ankyloblepharon-ectodermal defects-cleft lip/palate 32.4 TP63 FRAS1 FGFR2
13 split-hand/foot malformation 5 32.4 TP63 BHLHA9
14 split-hand/foot malformation 4 32.3 TP63 BHLHA9
15 cryptophthalmos 31.7 GRIP1 FREM2 FREM1 FRAS1
16 ectodermal dysplasia 31.7 TP63 GJA1 FGFR3 FGFR2
17 craniosynostosis 31.5 GLI3 FREM1 FGFR3 FGFR2 CFAP47
18 polydactyly 31.3 LMBR1 IQCE HOXD13 GLI3 BHLHA9
19 cleft palate, isolated 31.2 TP63 GLI3 FREM2 FRAS1 FGFR3 FGFR2
20 dysostosis 31.2 HOXD13 GLI3 FGFR3 FGFR2 CFAP47
21 fgfr craniosynostosis syndromes 31.2 FGFR3 FGFR2
22 polydactyly, postaxial, type a1 31.0 TULP1 IQCE GLI3
23 hemimelia 31.0 GLI3 BHLHA9
24 synpolydactyly 30.9 LMBR1 HOXD13 HOXA13 GLI3
25 hypospadias 30.9 HOXD13 HOXA13 FGFR2
26 tibia, hypoplasia or aplasia of, with polydactyly 30.8 LMBR1 HOXD13 GLI3
27 townes-brocks syndrome 30.8 HOXD13 GLI3 FRAS1
28 renal hypodysplasia/aplasia 1 30.7 GRIP1 FREM2 FREM1 FRAS1 FGFR2
29 coloboma of macula 30.7 GLI3 FREM2 FREM1 FRAS1 CFAP47
30 synostosis 30.6 LMBR1 HOXD13 GLI3 FREM2 FREM1 FRAS1
31 syndactyly, type iii 12.8
32 syndactyly, type iv 12.8
33 cenani-lenz syndactyly syndrome 12.7
34 brachydactyly-syndactyly syndrome 12.7
35 symphalangism, proximal, 1a 12.7
36 toe syndactyly, telecanthus, and anogenital and renal malformations 12.6
37 ectodermal dysplasia-syndactyly syndrome 1 12.6
38 symphalangism, proximal, 1b 12.6
39 brachydactyly-distal symphalangism syndrome 12.6
40 syndactyly-polydactyly-earlobe syndrome 12.5
41 blepharophimosis with ptosis, syndactyly, and short stature 12.5
42 syndactyly type 6 12.4
43 thai symphalangism syndrome 12.4
44 symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch 12.4
45 ectodermal dysplasia-syndactyly syndrome 2 12.3
46 aphalangia, partial, with syndactyly and duplication of metatarsal iv 12.3
47 coronal synostosis, syndactyly and jejunal atresia 12.3
48 multiple synostoses syndrome 1 12.3
49 ectodermal dysplasia with mental retardation and syndactyly 12.2
50 cleft lip/palate-ectodermal dysplasia syndrome 12.2

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

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:

56
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:

45 (show all 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.4 FBN2 FGFR2 FGFR3 FRAS1 FREM1 FREM2
2 limbs/digits/tail MP:0005371 10.32 BHLHA9 FBN2 FGFR2 FGFR3 FRAS1 FREM1
3 cardiovascular system MP:0005385 10.31 CACNA1C FBN2 FGFR2 FRAS1 FREM2 GJA1
4 integument MP:0010771 10.31 CACNA1C FBN2 FGFR2 FGFR3 FRAS1 FREM1
5 mortality/aging MP:0010768 10.3 CACNA1C FBN2 FGFR2 FGFR3 FRAS1 FREM1
6 craniofacial MP:0005382 10.21 FBN2 FGFR2 FGFR3 FRAS1 FREM1 FREM2
7 embryo MP:0005380 10.19 CACNA1C FGFR2 FREM2 GJA1 GLI3 GRIP1
8 digestive/alimentary MP:0005381 10.15 FGFR2 FGFR3 FRAS1 FREM1 GLI3 HOXA13
9 nervous system MP:0003631 10.14 BHLHA9 CACNA1C FBN2 FGFR2 FGFR3 FREM1
10 renal/urinary system MP:0005367 10.06 FBN2 FGFR2 FGFR3 FRAS1 FREM1 FREM2
11 hearing/vestibular/ear MP:0005377 10.05 FBN2 FGFR2 FGFR3 FREM2 GJA1 GLI3
12 muscle MP:0005369 10.03 CACNA1C FBN2 FGFR2 FREM1 FREM2 GJA1
13 reproductive system MP:0005389 10 CACNA1C FBN2 FGFR2 FGFR3 FREM1 FREM2
14 no phenotypic analysis MP:0003012 9.91 FGFR2 FGFR3 FRAS1 GJA1 GLI3 HOXD13
15 respiratory system MP:0005388 9.81 FBN2 FGFR2 FGFR3 FRAS1 FREM1 FREM2
16 skeleton MP:0005390 9.77 FBN2 FGFR2 FGFR3 FRAS1 FREM1 FREM2
17 vision/eye MP:0005391 9.47 FBN2 FGFR2 FGFR3 FRAS1 FREM1 FREM2

Drugs & Therapeutics for Chromosome 2q35 Duplication Syndrome

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 A Comparative Open-Label Multicentre Clinical Trial To Assess The Efficacy And Safety Of A New Therapy With Cultured Chimeric Skin For The Treatment Of Skin Lesions In Patients With Epidermolysis Bullosa Completed NCT00987142 Phase 2 CX501
2 Short-Term Behavioral Effects of Cholesterol Therapy in Smith-Lemli-Opitz Syndrome Completed NCT00114634 Phase 2
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 Syndactyly Repair: Comparison of Skin Graft and No Skin Graft Techniques Completed NCT01416090
6 Clinical and Molecular Manifestations of Human Skeletal Dysplasias and Short Stature Completed NCT00001754
7 Molecular Genetic Analysis of Fraser Syndrome and Fryns Syndrome Completed NCT00032877
8 Comparison of Scar Formation in Syndactyly Release Surgery With Full Thickness Skin Graft Versus Skin Graft Substitute Recruiting NCT03107546
9 Clinical and Basic Investigations Into Smith-Lemli-Opitz Syndrome Recruiting NCT00001721
10 Pathogenesis of Focal Dermal Hypoplasia or Goltz Syndrome and Related Disorders Active, not recruiting NCT00691223
11 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

Genetic Tests for Chromosome 2q35 Duplication Syndrome

Genetic tests related to Chromosome 2q35 Duplication Syndrome:

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

Anatomical Context for Chromosome 2q35 Duplication Syndrome

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

40
Skin, Bone, Eye, Brain, Kidney, Heart, Lung

Publications for Chromosome 2q35 Duplication Syndrome

Articles related to Chromosome 2q35 Duplication Syndrome:

(show top 50) (show all 2214)
# Title Authors PMID Year
1
Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis. 56 61
21167467 2011
2
Locus homogeneity between syndactyly type 1A and craniosynostosis Philadelphia type? 56 61
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 56
16189548 2005
4
A simple method for characterising syndactyly in clinical practice. 61 56
16261692 2005
5
Confirmation of genetic homogeneity of syndactyly type 1 in an Iranian family. 61 56
11746046 2001
6
Localization of a gene for syndactyly type 1 to chromosome 2q34-q36. 61 56
10877983 2000
7
Craniosynostosis, Philadelphia type: a new autosomal dominant syndrome with sagittal craniosynostosis and syndactyly of the fingers and toes. 61 56
8882401 1996
8
Syndactylies and polydactylies: embryological overview and suggested classification. 61 56
7915184 1993
9
Syndactyly: frequency of specific types. 61 56
6249121 1980
10
Hereditary syndactylia in a Chinese family. 56
5865199 1965
11
The problem of complete Y-linkage in man. 56
13469791 1957
12
Inheritance of zygodactyly. 56
20281709 1946
13
THE Y-CHROMOSOME TYPE OF SEXLINKED INHERITANCE IN MAN. 56
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. 54 61
18242159 2008
16
A novel mutation of p63 in a Chinese family with inherited syndactyly and adactylism. 54 61
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. 61 54
15811011 2005
19
A novel GJA1 mutation causes oculodentodigital dysplasia without syndactyly. 54 61
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. 61 54
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. 61 54
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. 61 54
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. 54 61
10735635 2000
31
De novo alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome. 54 61
9973282 1999
32
Thanatophoric dysplasia type I with syndactyly. 61 54
9843049 1998
33
Apert syndrome mutations in fibroblast growth factor receptor 2 exhibit increased affinity for FGF ligand. 54 61
9700203 1998
34
Presence of the Apert canonical S252W FGFR2 mutation in a patient without severe syndactyly. 61 54
9719378 1998
35
Point mutations in human GLI3 cause Greig syndrome. 61 54
9302279 1997
36
Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome. 61 54
8651276 1996
37
Of mice and Marfan: genetic linkage analyses of the fibrillin genes, Fbn1 and Fbn2, in the mouse genome. 61 54
7873879 1994
38
Association between maternal exposure to PM10 and polydactyly and syndactyly: A population-based case-control study in Liaoning province, China. 61
32416360 2020
39
Identification of novel missense mutations associated with non-syndromic syndactyly in two vietnamese trios by whole exome sequencing. 61
32165123 2020
40
First reported case of Steel syndrome in the European population: A novel homozygous mutation in COL27A1 and review of the literature. 61
32360765 2020
41
Upper extremity anomalies in children with femoral and fibular deficiency. 61
30882560 2020
42
Phenotype and growth in Sotos syndrome patient from DR Congo (Central Africa). 61
32406590 2020
43
Characteristic dental pattern with hypodontia and short roots in Fraser syndrome. 61
32488952 2020
44
Aesthetic and Anatomic Reconstruction of Polysyndactyly of the Fifth Toe Fused With the Fourth Toe. 61
32568755 2020
45
Bilateral anophthalmia and intrahepatic biliary atresia, two unusual components of Fraser syndrome: a case report. 61
32522149 2020
46
[Results of Blauth Palmar Flap in congenital syndactyly: Long-term outcome in a 31 webs study]. 61
31178308 2020
47
Rare Extracardiac Anomalies Presented with Right Heterotaxy Syndrome in a Newborn Baby: A Case Report. 61
32491997 2020
48
Early Prenatal Ultrasound and Molecular Diagnosis of Apert Syndrome: Case Report with Postmortem CT-Scan and Chondral Plate Histology. 61
32538685 2020
49
Treatment of congenital syndactyly. 61
32142954 2020
50
Patient-Reported Outcomes after Syndactyly Reconstruction. 61
32332541 2020

Variations for Chromosome 2q35 Duplication Syndrome

ClinVar genetic disease variations for Chromosome 2q35 Duplication Syndrome:

6 (show top 50) (show all 77) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 IQCE NM_152558.5(IQCE):c.895_904del (p.Val301fs)deletion Pathogenic 638149 7:2625907-2625916 7:2586273-2586282
2 TULP1 NM_003322.6(TULP1):c.1198C>T (p.Arg400Trp)SNV Pathogenic 30261 rs387906836 6:35471540-35471540 6:35503763-35503763
3 DLL3 NM_203486.3(DLL3):c.1623G>A (p.Pro541=)SNV Conflicting interpretations of pathogenicity 711080 19:39998208-39998208 19:39507568-39507568
4 DLL3 NM_203486.3(DLL3):c.1123C>T (p.Leu375=)SNV Conflicting interpretations of pathogenicity 737861 19:39997708-39997708 19:39507068-39507068
5 DLL3 NM_203486.3(DLL3):c.1758+57C>TSNV Conflicting interpretations of pathogenicity 515510 rs147582946 19:39998611-39998611 19:39507971-39507971
6 DLL3 NM_203486.3(DLL3):c.805G>A (p.Gly269Arg)SNV Conflicting interpretations of pathogenicity 449192 rs139297205 19:39994863-39994863 19:39504223-39504223
7 DLL3 NM_203486.3(DLL3):c.352-15C>TSNV Conflicting interpretations of pathogenicity 811612 19:39991240-39991240 19:39500600-39500600
8 DLL3 NM_203486.3(DLL3):c.153C>T (p.Ser51=)SNV Conflicting interpretations of pathogenicity 260775 rs373980582 19:39989915-39989915 19:39499275-39499275
9 DLL3 NM_203486.3(DLL3):c.939G>A (p.Gly313=)SNV Conflicting interpretations of pathogenicity 329235 rs150100958 19:39995937-39995937 19:39505297-39505297
10 HOXD13 NM_000523.4(HOXD13):c.820C>T (p.Arg274Ter)SNV Conflicting interpretations of pathogenicity 374019 rs200750564 2:176959246-176959246 2:176094518-176094518
11 DLL3 NM_203486.3(DLL3):c.1759-53A>GSNV Uncertain significance 329242 rs762786941 19:39998839-39998839 19:39508199-39508199
12 GJA1 NM_000165.5(GJA1):c.*1020_*1021deldeletion Uncertain significance 355181 rs375943953 6:121770155-121770156 6:121449009-121449010
13 DLL3 NM_203486.3(DLL3):c.620G>A (p.Cys207Tyr)SNV Uncertain significance 329233 rs886054432 19:39993665-39993665 19:39503025-39503025
14 DLL3 NM_203486.3(DLL3):c.1030G>C (p.Gly344Arg)SNV Uncertain significance 329236 rs530857183 19:39996028-39996028 19:39505388-39505388
15 DLL3 NM_203486.3(DLL3):c.1383A>C (p.Gly461=)SNV Uncertain significance 329239 rs886054433 19:39997968-39997968 19:39507328-39507328
16 DLL3 NM_203486.3(DLL3):c.1758+20C>GSNV Uncertain significance 329240 rs778339882 19:39998574-39998574 19:39507934-39507934
17 DLL3 NM_203486.3(DLL3):c.779C>A (p.Pro260His)SNV Uncertain significance 329234 rs748649010 19:39994837-39994837 19:39504197-39504197
18 DLL3 NM_203486.3(DLL3):c.1759-162A>GSNV Uncertain significance 329241 rs886054434 19:39998730-39998730 19:39508090-39508090
19 DLL3 NM_203486.3(DLL3):c.-12dupduplication Uncertain significance 329230 rs747003629 19:39989596-39989597 19:39498956-39498957
20 DLL3 NM_203486.3(DLL3):c.452G>A (p.Arg151His)SNV Uncertain significance 329231 rs768310008 19:39993497-39993497 19:39502857-39502857
21 GJA1 NM_000165.5(GJA1):c.*773deldeletion Uncertain significance 355178 rs397698276 6:121769906-121769906 6:121448760-121448760
22 GJA1 NM_000165.5(GJA1):c.*916_*918deldeletion Uncertain significance 355179 rs886061018 6:121770058-121770060 6:121448912-121448914
23 46;XY;t(12;14)(q15;q13)matTranslocation Uncertain significance 267936
24 DLL3 NM_203486.3(DLL3):c.1066C>T (p.Arg356Trp)SNV Uncertain significance 289692 rs146274789 19:39996064-39996064 19:39505424-39505424
25 DLL3 NM_203486.3(DLL3):c.100A>T (p.Ile34Phe)SNV Uncertain significance 893094 19:39989862-39989862 19:39499222-39499222
26 DLL3 NM_203486.3(DLL3):c.343G>A (p.Ala115Thr)SNV Uncertain significance 893300 19:39990105-39990105 19:39499465-39499465
27 DLL3 NM_203486.3(DLL3):c.367A>G (p.Ile123Val)SNV Uncertain significance 893301 19:39991270-39991270 19:39500630-39500630
28 DLL3 NM_203486.3(DLL3):c.478C>T (p.Arg160Trp)SNV Uncertain significance 894146 19:39993523-39993523 19:39502883-39502883
29 DLL3 NM_203486.3(DLL3):c.564G>T (p.Thr188=)SNV Uncertain significance 894549 19:39993609-39993609 19:39502969-39502969
30 DLL3 NM_203486.3(DLL3):c.583A>G (p.Ser195Gly)SNV Uncertain significance 894550 19:39993628-39993628 19:39502988-39502988
31 DLL3 NM_203486.3(DLL3):c.615C>T (p.Arg205=)SNV Uncertain significance 893125 19:39993660-39993660 19:39503020-39503020
32 DLL3 NM_203486.3(DLL3):c.654G>A (p.Leu218=)SNV Uncertain significance 893343 19:39994712-39994712 19:39504072-39504072
33 DLL3 NM_203486.3(DLL3):c.902C>T (p.Pro301Leu)SNV Uncertain significance 894586 19:39995900-39995900 19:39505260-39505260
34 DLL3 NM_203486.3(DLL3):c.933G>A (p.Val311=)SNV Uncertain significance 894587 19:39995931-39995931 19:39505291-39505291
35 DLL3 NM_203486.3(DLL3):c.969C>T (p.Asn323=)SNV Uncertain significance 892563 19:39995967-39995967 19:39505327-39505327
36 DLL3 NM_203486.3(DLL3):c.984C>T (p.Val328=)SNV Uncertain significance 892564 19:39995982-39995982 19:39505342-39505342
37 DLL3 NM_203486.3(DLL3):c.1101C>T (p.Leu367=)SNV Uncertain significance 893379 19:39997686-39997686 19:39507046-39507046
38 DLL3 NM_203486.3(DLL3):c.1123C>G (p.Leu375Val)SNV Uncertain significance 894205 19:39997708-39997708 19:39507068-39507068
39 DLL3 NM_203486.3(DLL3):c.1138C>T (p.Arg380Cys)SNV Uncertain significance 894206 19:39997723-39997723 19:39507083-39507083
40 DLL3 NM_203486.3(DLL3):c.1140C>G (p.Arg380=)SNV Uncertain significance 894207 19:39997725-39997725 19:39507085-39507085
41 DLL3 NM_203486.3(DLL3):c.1189G>C (p.Gly397Arg)SNV Uncertain significance 894612 19:39997774-39997774 19:39507134-39507134
42 DLL3 NM_203486.3(DLL3):c.1302C>T (p.Ala434=)SNV Uncertain significance 894613 19:39997887-39997887 19:39507247-39507247
43 DLL3 NM_203486.3(DLL3):c.1362T>C (p.Ala454=)SNV Uncertain significance 892589 19:39997947-39997947 19:39507307-39507307
44 DLL3 NM_203486.3(DLL3):c.1378A>G (p.Met460Val)SNV Uncertain significance 892590 19:39997963-39997963 19:39507323-39507323
45 DLL3 NM_203486.3(DLL3):c.1441C>G (p.Pro481Ala)SNV Uncertain significance 893400 19:39998026-39998026 19:39507386-39507386
46 DLL3 NM_203486.3(DLL3):c.1455C>T (p.Pro485=)SNV Uncertain significance 893401 19:39998040-39998040 19:39507400-39507400
47 DLL3 NM_203486.3(DLL3):c.1474C>G (p.Leu492Val)SNV Uncertain significance 893402 19:39998059-39998059 19:39507419-39507419
48 DLL3 NM_203486.3(DLL3):c.1759-97G>TSNV Uncertain significance 894636 19:39998795-39998795 19:39508155-39508155
49 DLL3 NM_203486.3(DLL3):c.1759-31C>GSNV Uncertain significance 892623 19:39998861-39998861 19:39508221-39508221
50 DLL3 NM_203486.3(DLL3):c.1091A>G (p.Asn364Ser)SNV Uncertain significance 497714 rs142597040 19:39996089-39996089 19:39505449-39505449

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

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:

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
Show member pathways
12.33 FREM2 FREM1 FRAS1 FGFR3 FGFR2 FBN2
2 10 FREM2 FREM1 FRAS1 FGFR3 FGFR2 FBN2

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 FREM2 FREM1 FRAS1

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 10.01 TP63 HOXD13 HOXA13 FREM2 FREM1 FGFR3
2 heart development GO:0007507 9.86 GLI3 GJA1 FREM2 CACNA1C
3 skeletal system development GO:0001501 9.73 TP63 HOXD13 HOXA13 FGFR3
4 camera-type eye development GO:0043010 9.69 GLI3 FBN2 CACNA1C
5 positive regulation of osteoblast differentiation GO:0045669 9.67 TP63 GLI3 FBN2
6 pattern specification process GO:0007389 9.65 TP63 HOXD13 GLI3
7 anatomical structure formation involved in morphogenesis GO:0048646 9.58 TP63 GLI3
8 embryonic digestive tract morphogenesis GO:0048557 9.58 GLI3 FGFR2
9 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.57 GJA1 CACNA1C
10 embryonic digit morphogenesis GO:0042733 9.56 LMBR1 HOXD13 GLI3 FREM2
11 gland morphogenesis GO:0022612 9.55 HOXD13 FGFR2
12 positive regulation of phospholipase activity GO:0010518 9.54 FGFR3 FGFR2
13 endochondral bone growth GO:0003416 9.52 FGFR3 FGFR2
14 prostate gland development GO:0030850 9.5 TP63 HOXD13 GLI3
15 prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis GO:0060527 9.46 HOXD13 FGFR2
16 cell communication GO:0007154 9.46 GJA1 FREM2 FREM1 FRAS1
17 squamous basal epithelial stem cell differentiation involved in prostate gland acinus development GO:0060529 9.37 TP63 FGFR2
18 limb morphogenesis GO:0035108 9.26 IQCE HOXD13 GLI3 FBN2
19 embryonic limb morphogenesis GO:0030326 9.02 TP63 HOXD13 GLI3 FRAS1 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 for Chromosome 2q35 Duplication Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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