SD1
MCID: CHR619
MIFTS: 62

Chromosome 2q35 Duplication Syndrome (SD1)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases
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Aliases & Classifications for Chromosome 2q35 Duplication Syndrome

MalaCards integrated aliases for Chromosome 2q35 Duplication Syndrome:

Name: Chromosome 2q35 Duplication Syndrome 57 11 11
Syndactyly 11 19 75 28 53 5 43 14 31 33
Syndactyly Type 1 11 19 58 28 5 14
Non-Syndromic Syndactyly 19 58 5
Sdty1 57 11 19
Syndactyly, Type 1, with or Without Craniosynostosis 57 11
Syndactyly, Type I 57 71
Zygodactyly 57 19
Sd1 57 19
Syndactyly, Type 1 12
Webbing of Digits 11
Symphalangism 11
Symphalangy 11

Characteristics:


Inheritance:

Chromosome 2q35 Duplication Syndrome: Autosomal dominant 57
Syndactyly Type 1: Autosomal dominant 58

Prevelance:

Syndactyly Type 1: 1-5/10000 (Europe, Europe) 58

Age Of Onset:

Syndactyly Type 1: Infancy,Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
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


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 11 DOID:0111816 DOID:11193
OMIM® 57 185900
ICD9CM 34 755.1
MeSH 43 D013576
NCIt 49 C87125
SNOMED-CT 68 156989004
ICD10 31 Q70 Q70.9
MESH via Orphanet 44 D013576
ICD10 via Orphanet 32 Q70.0 Q70.1 Q70.2 more
UMLS via Orphanet 72 C0039075 C1861380
MedGen 40 C1861380
UMLS 71 C0039075 C1861380

Summaries for Chromosome 2q35 Duplication Syndrome

Orphanet 58 Non-syndromic syndactyly: A group of rare, congenital, non-syndromic distal limb malformation disorders characterized by webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. The morphological anomaly can be unilateral or bilateral, symmetrical or asymmetrical, depending on the specific type.

Syndactyly type 1: A rare non-syndromic syndactyly characterized by complete or partial webbing between the 3rd and 4th fingers and/or the 2nd and 3rd toes. Other digits may be involved occasionally. The phenotype varies widely within and between families, sometimes only the hands are affected and sometimes only the feet. Webbing between fingers may be associated with bony fusion of the distal phalanges.

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 Osteoblast differentiation and related diseases and Hedgehog signaling pathway. The drugs Clonidine and Neurotransmitter Agents have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and eye, and related phenotypes are finger syndactyly and toe syndactyly

GARD: 19 Syndactyly type 1 is a congenital limb developmental defect that involves webbing or joining of the fingers or toes. Syndactyly type 1 is the most common type of non-syndromic syndactyly. Individuals with Syndactyly type 1 have webbing of the third and fourth fingers and/or between the second and third toes. Other digits may be involved, as well as the underlying bones.

Disease Ontology 11 Syndactyly type 1: A syndactyly characterized by complete or partial webbing between the third and fourth fingers and/or the second and third toes that has material basis in heterozygous duplication of a region of chromosome 2q34-q36.

Syndactyly: A synostosis that results in the fusion of two or more digits.

Wikipedia: 75 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 619)
# Related Disease Score Top Affiliating Genes
1 syndactyly, type iii 33.4 ZP2 LMBR1 GJA1
2 syndactyly, type iv 33.3 ZP2 LMBR1 HOXD13 GLI3
3 syndactyly, type v 33.2 HOXD13 GJA1
4 fraser syndrome 1 33.0 GRIP1 FREM2 FRAS1 FBN2
5 greig cephalopolysyndactyly syndrome 32.8 ZP2 LMBR1 IQCE IHH HOXD13 GLI3
6 carpenter syndrome 1 32.6 MEGF8 GLI3 FGFR2
7 zygodactyly 1 32.5 ZP2 ZD1 FREM2 FRAS1
8 apert syndrome 32.5 MEGF8 IHH GLI3 FGFR2
9 pallister-hall syndrome 32.2 ZP2 LMBR1 IQCE IHH HOXD13 GLI3
10 brachydactyly, type a4 32.2 IHH HOXD13 FBN2
11 brachydactyly-syndactyly syndrome 32.1 LMBR1 HOXD13
12 fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly 32.0 LMBR1 GLI3
13 acrocallosal syndrome 31.9 LMBR1 IHH GLI3
14 culler-jones syndrome 31.7 IHH GLI3
15 ankyloblepharon-ectodermal defects-cleft lip/palate 31.5 FRAS1 FGFR2
16 cryptophthalmos 31.3 GRIP1 FREM2 FRAS1
17 brachydactyly 31.2 TULP1 IQCE IHH HOXD13
18 craniosynostosis 31.0 MEGF8 IHH GLI3 FGFR2
19 synpolydactyly 30.9 ZP2 LMBR1 HOXD13 GLI3
20 dysostosis 30.8 LMBR1 IHH HOXD13 GLI3 FRAS1 FGFR2
21 anus, imperforate 30.8 HOXD13 GLI3 FREM2 FRAS1
22 cleft palate, isolated 30.8 IHH GLI3 FREM2 FRAS1 FGFR2
23 osteochondrodysplasia 30.8 LMBR1 IHH GJA1 FGFR2 FBN2
24 synostosis 30.8 ZP2 LMBR1 IHH HOXD13 GLI3 FREM2
25 polydactyly 30.7 MEGF8 LMBR1 IQCE HOXD13 GLI3 FGFR2
26 polydactyly, postaxial, type a1 30.7 TULP1 IQCE GLI3
27 renal hypodysplasia/aplasia 1 30.6 GRIP1 FREM2 FRAS1 FGFR2
28 tibia, hypoplasia or aplasia of, with polydactyly 30.4 ZP2 LMBR1 HOXD13 GLI3
29 townes-brocks syndrome 30.4 HOXD13 GLI3 FREM2 FRAS1
30 skin tag 30.0 IQCE GLI3
31 cenani-lenz syndactyly syndrome 11.7
32 toe syndactyly, telecanthus, and anogenital and renal malformations 11.6
33 multiple synostoses syndrome 1 11.5
34 filippi syndrome 11.5
35 symphalangism, proximal, 1a 11.5
36 ectodermal dysplasia-syndactyly syndrome 1 11.5
37 timothy syndrome 11.5
38 polydactyly, preaxial iv 11.5
39 microphthalmia with limb anomalies 11.5
40 brachydactyly-distal symphalangism syndrome 11.5
41 thai symphalangism syndrome 11.5
42 blepharophimosis with ptosis, syndactyly, and short stature 11.4
43 cleft lip/palate-ectodermal dysplasia syndrome 11.4
44 aphalangia, partial, with syndactyly and duplication of metatarsal iv 11.4
45 metacarpal 4-5 fusion 11.4
46 saethre-chotzen syndrome 11.4
47 syndactyly-nystagmus syndrome due to 2q31.1 microduplication 11.4
48 syndactyly-polydactyly-earlobe syndrome 11.4
49 poland syndrome 11.4
50 eyebrows, duplication of, with stretchable skin and syndactyly 11.4

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 30 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 finger syndactyly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0006101
2 toe syndactyly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001770
3 symphalangism affecting the phalanges of the hand 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0009773
4 sagittal craniosynostosis 30 Occasional (7.5%) HP:0004442
5 2-3 toe syndactyly 30 HP:0004691
6 3-4 finger syndactyly 30 HP:0006097
7 cutaneous syndactyly 30 HP:0012725
8 distal symphalangism of hands 30 HP:0001204

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 08-Dec-2022)

MGI Mouse Phenotypes related to Chromosome 2q35 Duplication Syndrome:

45 (show all 19)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.39 CSNK2B FBN2 FGFR2 FRAS1 FREM2 GJA1
2 nervous system MP:0003631 10.38 AGGF1 CSNK2B FBN2 FGFR2 FREM2 GJA1
3 limbs/digits/tail MP:0005371 10.35 FBN2 FGFR2 FRAS1 FREM2 GJA1 GLI3
4 embryo MP:0005380 10.29 AGGF1 CSNK2B FGFR2 FREM2 GJA1 GLI3
5 cellular MP:0005384 10.22 AGGF1 CSNK2B FBN2 FGFR2 FRAS1 GJA1
6 renal/urinary system MP:0005367 10.21 FBN2 FGFR2 FRAS1 FREM2 GLI3 GRIP1
7 endocrine/exocrine gland MP:0005379 10.19 CSNK2B FGFR2 GJA1 GLI3 HOXD13 IHH
8 cardiovascular system MP:0005385 10.15 AGGF1 FBN2 FGFR2 FRAS1 FREM2 GJA1
9 no phenotypic analysis MP:0003012 10.12 FGFR2 FRAS1 GJA1 GLI3 HOXD13 IHH
10 muscle MP:0005369 10.09 FBN2 FGFR2 FREM2 GJA1 HOXD13 IHH
11 craniofacial MP:0005382 10.09 FBN2 FGFR2 FRAS1 FREM2 GJA1 GLI3
12 hearing/vestibular/ear MP:0005377 10.07 FBN2 FGFR2 FREM2 GJA1 GLI3 LRP2
13 skeleton MP:0005390 10.03 FBN2 FGFR2 FRAS1 FREM2 GJA1 GLI3
14 respiratory system MP:0005388 10.02 AGGF1 FBN2 FGFR2 FRAS1 FREM2 GJA1
15 digestive/alimentary MP:0005381 10 FGFR2 FRAS1 GLI3 HOXD13 IHH LRP2
16 pigmentation MP:0001186 9.98 FGFR2 FREM2 GLI3 LRP2 TULP1
17 vision/eye MP:0005391 9.97 FBN2 FGFR2 FRAS1 FREM2 GJA1 GLI3
18 mortality/aging MP:0010768 9.83 AGGF1 CSNK2B FBN2 FGFR2 FRAS1 FREM2
19 integument MP:0010771 9.28 FBN2 FGFR2 FRAS1 FREM2 GJA1 GLI3

Drugs & Therapeutics for Chromosome 2q35 Duplication Syndrome

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 4205-91-8, 4205-90-7 2803 20179
2 Neurotransmitter Agents Phase 4
3 Adrenergic alpha-Agonists Phase 4
4 Adrenergic Agonists Phase 4
5 Adrenergic Agents Phase 4
6 Antihypertensive Agents Phase 4
7 Pharmaceutical Solutions 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 Recruiting NCT04564430 Phase 4 Catapresan
2 Syndactyly Repair: Comparison of Skin Graft and No Skin Graft Techniques Completed NCT01416090
3 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
4 Comparison of Scar Formation in Syndactyly Release Surgery With Full Thickness Skin Graft Versus Skin Graft Substitute Active, not recruiting NCT03107546
5 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

Genetic Tests for Chromosome 2q35 Duplication Syndrome

Genetic tests related to Chromosome 2q35 Duplication Syndrome:

# Genetic test Affiliating Genes
1 Syndactyly 28
2 Syndactyly Type 1 28

Anatomical Context for Chromosome 2q35 Duplication Syndrome

Organs/tissues related to Chromosome 2q35 Duplication Syndrome:

MalaCards : Bone, Skin, Eye, Heart, Brain, Kidney, Temporal Lobe

Publications for Chromosome 2q35 Duplication Syndrome

Articles related to Chromosome 2q35 Duplication Syndrome:

(show top 50) (show all 2656)
# Title Authors PMID Year
1
Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis. 62 57
21167467 2011
2
Locus homogeneity between syndactyly type 1A and craniosynostosis Philadelphia type? 62 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. 62 57
16189548 2005
4
A simple method for characterising syndactyly in clinical practice. 62 57
16261692 2005
5
Confirmation of genetic homogeneity of syndactyly type 1 in an Iranian family. 62 57
11746046 2001
6
Localization of a gene for syndactyly type 1 to chromosome 2q34-q36. 62 57
10877983 2000
7
Craniosynostosis, Philadelphia type: a new autosomal dominant syndrome with sagittal craniosynostosis and syndactyly of the fingers and toes. 62 57
8882401 1996
8
Syndactylies and polydactylies: embryological overview and suggested classification. 62 57
7915184 1993
9
Syndactyly: frequency of specific types. 62 57
6249121 1980
10
Inheritance of zygodactyly. 62 57
20281709 1946
11
Single suture craniosynostosis: Identification of rare variants in genes associated with syndromic forms. 5
29168297 2018
12
Clinical genetics of craniosynostosis. 5
28914635 2017
13
Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization. 5
23063620 2012
14
Hereditary syndactylia in a Chinese family. 57
5865199 1965
15
The problem of complete Y-linkage in man. 57
13469791 1957
16
THE Y-CHROMOSOME TYPE OF SEXLINKED INHERITANCE IN MAN. 57
17751446 1922
17
Chiari type 1 malformation in an infant with type 2 Pfeiffer syndrome: further evidence of acquired pathogenesis. 53 62
20186072 2010
18
A Pro253Arg mutation in fibroblast growth factor receptor 2 (Fgfr2) causes skeleton malformation mimicking human Apert syndrome by affecting both chondrogenesis and osteogenesis. 53 62
18242159 2008
19
A novel mutation of p63 in a Chinese family with inherited syndactyly and adactylism. 53 62
17915261 2008
20
Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome. 53 62
17236141 2007
21
Molecular analysis of non-syndromic preaxial polydactyly: preaxial polydactyly type-IV and preaxial polydactyly type-I. 53 62
15811011 2005
22
A novel GJA1 mutation causes oculodentodigital dysplasia without syndactyly. 53 62
15637728 2005
23
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. 53 62
15390181 2005
24
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. 53 62
15310757 2004
25
Biochemical analysis of pathogenic ligand-dependent FGFR2 mutations suggests distinct pathophysiological mechanisms for craniofacial and limb abnormalities. 53 62
15282208 2004
26
A direct functional link between the multi-PDZ domain protein GRIP1 and the Fraser syndrome protein Fras1. 53 62
14730302 2004
27
An acceptor splice site mutation in HOXD13 results in variable hand, but consistent foot malformations. 53 62
12900906 2003
28
FGFs, their receptors, and human limb malformations: clinical and molecular correlations. 53 62
12357470 2002
29
The synpolydactyly homolog (spdh) mutation in the mouse -- a defect in patterning and growth of limb cartilage elements. 53 62
11850178 2002
30
Differential expression of fibroblast growth factor receptors in human digital development suggests common pathogenesis in complex acrosyndactyly and craniosynostosis. 53 62
11335797 2001
31
Mutation of the gene encoding fibrillin-2 results in syndactyly in mice. 53 62
11285249 2001
32
Craniosynostosis and related limb anomalies. 53 62
11277076 2001
33
Genotype-phenotype analysis in Apert syndrome suggests opposite effects of the two recurrent mutations on syndactyly and outcome of craniofacial surgery. 53 62
10735635 2000
34
De novo alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome. 53 62
9973282 1999
35
Thanatophoric dysplasia type I with syndactyly. 53 62
9843049 1998
36
Apert syndrome mutations in fibroblast growth factor receptor 2 exhibit increased affinity for FGF ligand. 53 62
9700203 1998
37
Presence of the Apert canonical S252W FGFR2 mutation in a patient without severe syndactyly. 53 62
9719378 1998
38
Point mutations in human GLI3 cause Greig syndrome. 53 62
9302279 1997
39
Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome. 53 62
8651276 1996
40
Of mice and Marfan: genetic linkage analyses of the fibrillin genes, Fbn1 and Fbn2, in the mouse genome. 53 62
7873879 1994
41
Clinical and genetic approach in the characterization of newborns with anorectal malformation. 62
36062518 2022
42
Single-stage Congenital Polysyndactyly Release: Outcomes and Long-term Followup. 62
35698302 2022
43
New Notations for Better Morphological Distinction of Postaxial Polydactyly of the Foot. 62
36348750 2022
44
A Cross-Sectional Study of the Neuropsychiatric Phenotype of CACNA1C-Related Disorder. 62
36436328 2022
45
Hypothesis: Symbrachydactyly. 62
36073773 2022
46
Classic Timothy Syndrome Associated With Bilateral Border Digit Syndactyly: A Case Series. 62
36336572 2022
47
Reliability and validity of Vancouver Scar Scale and Withey score after syndactyly release. 62
35502746 2022
48
Increased CaV1.2 late current by a CACNA1C p.R412M variant causes an atypical Timothy syndrome without syndactyly. 62
36347939 2022
49
Goltz Syndrome Combined with Triple X Syndrome, a Case Report. 62
36443947 2022
50
Anchoring Cords: A Distinct Suprastructure in the Developing Skin. 62
35613627 2022

Variations for Chromosome 2q35 Duplication Syndrome

ClinVar genetic disease variations for Chromosome 2q35 Duplication Syndrome:

5 (show top 50) (show all 84)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 overlap with 46 genes GRCh37/hg19 7p14.1-12.3(chr7:41124364-47945566) CN LOSS Pathogenic
1047885 GRCh37: 7:41124364-47945566
GRCh38:
2 NHEJ1 NC_000002.12:g.219102933_219134970dup DUP Pathogenic
984380 GRCh37:
GRCh38: 2:219102933-219134970
3 MEGF8 NM_001271938.2(MEGF8):c.5073del (p.Phe1692fs) DEL Pathogenic
1162320 GRCh37: 19:42862352-42862352
GRCh38: 19:42358200-42358200
4 HOXD13 NM_000523.4(HOXD13):c.820C>T (p.Arg274Ter) SNV Pathogenic
374019 rs200750564 GRCh37: 2:176959246-176959246
GRCh38: 2:176094518-176094518
5 IQCE NM_152558.5(IQCE):c.895_904del (p.Val301fs) DEL Pathogenic
638149 rs773701437 GRCh37: 7:2625907-2625916
GRCh38: 7:2586273-2586282
6 TULP1 NM_003322.6(TULP1):c.1198C>T (p.Arg400Trp) SNV Pathogenic
30261 rs387906836 GRCh37: 6:35471540-35471540
GRCh38: 6:35503763-35503763
7 CSNK2B NM_001320.7(CSNK2B):c.94G>A (p.Asp32Asn) SNV Pathogenic
520596 rs1554169984 GRCh37: 6:31635666-31635666
GRCh38: 6:31667889-31667889
8 AGGF1 NM_018046.5(AGGF1):c.112_132dup (p.Arg44_Glu45insSerCysLysArgGlnValArg) DUP Likely Pathogenic
1713128 GRCh37: 5:76326697-76326698
GRCh38: 5:77030872-77030873
9 LRP2 NM_004525.3(LRP2):c.3889G>T (p.Gly1297Trp) SNV Likely Pathogenic
1713129 GRCh37: 2:170097654-170097654
GRCh38: 2:169241144-169241144
10 CDH20 NM_031891.4(CDH20):c.2059C>T (p.Arg687Trp) SNV Uncertain Significance
1713130 GRCh37: 18:59221581-59221581
GRCh38: 18:61554348-61554348
11 RAB19 NM_001008749.3(RAB19):c.331T>C (p.Trp111Arg) SNV Uncertain Significance
1713131 GRCh37: 7:140111803-140111803
GRCh38: 7:140412003-140412003
12 DLL3 NM_203486.3(DLL3):c.153C>T (p.Ser51=) SNV Uncertain Significance
260775 rs373980582 GRCh37: 19:39989915-39989915
GRCh38: 19:39499275-39499275
13 DLL3 NM_203486.3(DLL3):c.615C>T (p.Arg205=) SNV Uncertain Significance
893125 rs780088167 GRCh37: 19:39993660-39993660
GRCh38: 19:39503020-39503020
14 DLL3 NM_203486.3(DLL3):c.652+15C>T SNV Uncertain Significance
893342 rs528327447 GRCh37: 19:39993712-39993712
GRCh38: 19:39503072-39503072
15 DLL3 NM_203486.3(DLL3):c.1623G>A (p.Pro541=) SNV Uncertain Significance
711080 rs200988915 GRCh37: 19:39998208-39998208
GRCh38: 19:39507568-39507568
16 DLL3 NM_203486.3(DLL3):c.902C>T (p.Pro301Leu) SNV Uncertain Significance
894586 rs781626135 GRCh37: 19:39995900-39995900
GRCh38: 19:39505260-39505260
17 DLL3 NM_203486.3(DLL3):c.1758+57C>T SNV Uncertain Significance
515510 rs147582946 GRCh37: 19:39998611-39998611
GRCh38: 19:39507971-39507971
18 DLL3 NM_203486.3(DLL3):c.969C>T (p.Asn323=) SNV Uncertain Significance
892563 rs139638161 GRCh37: 19:39995967-39995967
GRCh38: 19:39505327-39505327
19 DLL3 NM_203486.3(DLL3):c.982G>T (p.Val328Phe) SNV Uncertain Significance
499140 rs749513254 GRCh37: 19:39995980-39995980
GRCh38: 19:39505340-39505340
20 DLL3 NM_203486.3(DLL3):c.984C>T (p.Val328=) SNV Uncertain Significance
892564 rs138378695 GRCh37: 19:39995982-39995982
GRCh38: 19:39505342-39505342
21 DLL3 NM_203486.3(DLL3):c.1123C>T (p.Leu375=) SNV Uncertain Significance
737861 rs777253263 GRCh37: 19:39997708-39997708
GRCh38: 19:39507068-39507068
22 DLL3 NM_203486.3(DLL3):c.1140C>G (p.Arg380=) SNV Uncertain Significance
894207 rs934368057 GRCh37: 19:39997725-39997725
GRCh38: 19:39507085-39507085
23 DLL3 NM_203486.3(DLL3):c.1138C>T (p.Arg380Cys) SNV Uncertain Significance
894206 rs765517369 GRCh37: 19:39997723-39997723
GRCh38: 19:39507083-39507083
24 DLL3 NM_203486.3(DLL3):c.1123C>G (p.Leu375Val) SNV Uncertain Significance
894205 rs777253263 GRCh37: 19:39997708-39997708
GRCh38: 19:39507068-39507068
25 DLL3 NM_203486.3(DLL3):c.1759-31C>G SNV Uncertain Significance
892623 rs200669115 GRCh37: 19:39998861-39998861
GRCh38: 19:39508221-39508221
26 GJA1 NM_000165.5(GJA1):c.*1020_*1021del DEL Uncertain Significance
355181 rs375943953 GRCh37: 6:121770155-121770156
GRCh38: 6:121449009-121449010
27 DLL3 NM_203486.3(DLL3):c.352-15C>T SNV Uncertain Significance
811612 rs201902809 GRCh37: 19:39991240-39991240
GRCh38: 19:39500600-39500600
28 DLL3 NM_203486.3(DLL3):c.1030G>C (p.Gly344Arg) SNV Uncertain Significance
329236 rs530857183 GRCh37: 19:39996028-39996028
GRCh38: 19:39505388-39505388
29 DLL3 NM_203486.3(DLL3):c.939G>A (p.Gly313=) SNV Uncertain Significance
329235 rs150100958 GRCh37: 19:39995937-39995937
GRCh38: 19:39505297-39505297
30 DLL3 NM_203486.3(DLL3):c.1091A>G (p.Asn364Ser) SNV Uncertain Significance
497714 rs142597040 GRCh37: 19:39996089-39996089
GRCh38: 19:39505449-39505449
31 GJA1 NM_000165.5(GJA1):c.*773del DEL Uncertain Significance
355178 rs397698276 GRCh37: 6:121769906-121769906
GRCh38: 6:121448760-121448760
32 DLL3 NM_203486.3(DLL3):c.1759-162A>G SNV Uncertain Significance
329241 rs886054434 GRCh37: 19:39998730-39998730
GRCh38: 19:39508090-39508090
33 DLL3 NM_203486.3(DLL3):c.-12dup DUP Uncertain Significance
329230 rs747003629 GRCh37: 19:39989596-39989597
GRCh38: 19:39498956-39498957
34 DLL3 NM_203486.3(DLL3):c.1759-53A>G SNV Uncertain Significance
329242 rs762786941 GRCh37: 19:39998839-39998839
GRCh38: 19:39508199-39508199
35 DLL3 NM_203486.3(DLL3):c.1383A>C (p.Gly461=) SNV Uncertain Significance
329239 rs886054433 GRCh37: 19:39997968-39997968
GRCh38: 19:39507328-39507328
36 DLL3 NM_203486.3(DLL3):c.620G>A (p.Cys207Tyr) SNV Uncertain Significance
329233 rs886054432 GRCh37: 19:39993665-39993665
GRCh38: 19:39503025-39503025
37 DLL3 NM_203486.3(DLL3):c.1758+20C>G SNV Uncertain Significance
329240 rs778339882 GRCh37: 19:39998574-39998574
GRCh38: 19:39507934-39507934
38 GJA1 NM_000165.5(GJA1):c.*916_*918del DEL Uncertain Significance
355179 rs886061018 GRCh37: 6:121770058-121770060
GRCh38: 6:121448912-121448914
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.1362T>C (p.Ala454=) SNV Uncertain Significance
892589 rs768998068 GRCh37: 19:39997947-39997947
GRCh38: 19:39507307-39507307
43 DLL3 NM_203486.3(DLL3):c.1378A>G (p.Met460Val) SNV Uncertain Significance
892590 rs766274162 GRCh37: 19:39997963-39997963
GRCh38: 19:39507323-39507323
44 DLL3 NM_203486.3(DLL3):c.100A>T (p.Ile34Phe) SNV Uncertain Significance
893094 rs781688970 GRCh37: 19:39989862-39989862
GRCh38: 19:39499222-39499222
45 DLL3 NM_203486.3(DLL3):c.343G>A (p.Ala115Thr) SNV Uncertain Significance
893300 rs71647811 GRCh37: 19:39990105-39990105
GRCh38: 19:39499465-39499465
46 DLL3 NM_203486.3(DLL3):c.367A>G (p.Ile123Val) SNV Uncertain Significance
893301 rs1568448479 GRCh37: 19:39991270-39991270
GRCh38: 19:39500630-39500630
47 DLL3 NM_203486.3(DLL3):c.654G>A (p.Leu218=) SNV Uncertain Significance
893343 rs140489087 GRCh37: 19:39994712-39994712
GRCh38: 19:39504072-39504072
48 DLL3 NM_203486.3(DLL3):c.1101C>T (p.Leu367=) SNV Uncertain Significance
893379 rs1434611786 GRCh37: 19:39997686-39997686
GRCh38: 19:39507046-39507046
49 DLL3 NM_203486.3(DLL3):c.1441C>G (p.Pro481Ala) SNV Uncertain Significance
893400 rs773460228 GRCh37: 19:39998026-39998026
GRCh38: 19:39507386-39507386
50 DLL3 NM_203486.3(DLL3):c.1455C>T (p.Pro485=) SNV Uncertain Significance
893401 rs759560622 GRCh37: 19:39998040-39998040
GRCh38: 19:39507400-39507400

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

6
# 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 GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
2 10.76 LRP2 IHH GLI3
3
Show member pathways
10.36 LRP2 IHH GLI3

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 collagen-containing extracellular matrix GO:0062023 9.32 ZP2 FREM2 FRAS1 FGFR2 FBN2

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 embryonic digit morphogenesis GO:0042733 9.85 LMBR1 IHH HOXD13 GLI3 FREM2
2 cell communication GO:0007154 9.83 GJA1 FREM2 FRAS1
3 positive regulation of alpha-beta T cell differentiation GO:0046638 9.8 IHH GLI3
4 camera-type eye development GO:0043010 9.78 IHH GLI3 FBN2
5 embryonic digestive tract morphogenesis GO:0048557 9.73 FGFR2 GLI3 IHH
6 prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis GO:0060527 9.67 HOXD13 FGFR2
7 gland morphogenesis GO:0022612 9.63 HOXD13 FGFR2
8 negative regulation of alpha-beta T cell differentiation GO:0046639 9.62 IHH GLI3
9 pattern specification process GO:0007389 9.58 IHH HOXD13 GLI3
10 embryonic limb morphogenesis GO:0030326 9.56 MEGF8 HOXD13 GLI3 FRAS1 FBN2
11 limb morphogenesis GO:0035108 9.23 MEGF8 IQCE HOXD13 GLI3 FBN2

Sources for Chromosome 2q35 Duplication Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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