MCID: CHR365
MIFTS: 15

Chromosome 2q31.1 Duplication Syndrome

Categories: Genetic diseases

Aliases & Classifications for Chromosome 2q31.1 Duplication Syndrome

MalaCards integrated aliases for Chromosome 2q31.1 Duplication Syndrome:

Name: Chromosome 2q31.1 Duplication Syndrome 57 12 29 13 70
Mesomelic Dysplasia, 2q31.1 Duplication-Related 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
contiguous gene duplication syndrome
one 3-generation korean family and one father daughter have been reported (last curated august 2013)


HPO:

31
chromosome 2q31.1 duplication syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060458
OMIM® 57 613681
MedGen 41 C3150940
UMLS 70 C3150940

Summaries for Chromosome 2q31.1 Duplication Syndrome

Disease Ontology : 12 A chromosomal duplication syndrome that has material basis in duplication of the chromosome 2q31.1 region.

MalaCards based summary : Chromosome 2q31.1 Duplication Syndrome, also known as mesomelic dysplasia, 2q31.1 duplication-related, is related to mesomelic dysplasia, kantaputra type. An important gene associated with Chromosome 2q31.1 Duplication Syndrome is DUP2Q31.1 (Chromosome 2q31.1 Duplication Syndrome). Related phenotypes are talipes equinovarus and pendular nystagmus

More information from OMIM: 613681

Related Diseases for Chromosome 2q31.1 Duplication Syndrome

Diseases related to Chromosome 2q31.1 Duplication Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 mesomelic dysplasia, kantaputra type 11.2

Symptoms & Phenotypes for Chromosome 2q31.1 Duplication Syndrome

Human phenotypes related to Chromosome 2q31.1 Duplication Syndrome:

31
# Description HPO Frequency HPO Source Accession
1 talipes equinovarus 31 occasional (7.5%) HP:0001762
2 pendular nystagmus 31 occasional (7.5%) HP:0012043
3 short stature 31 HP:0004322
4 cutaneous syndactyly 31 HP:0012725

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Growth Height:
short stature

Skeletal Limbs:
radial shortening
ulnar shortening
tibial shortening
fibula shortening

Skeletal Hands:
hand anomalies, complex (in some patients)
triphalangeal thumb, hypoplastic (in 1 patient)
cutaneous syndactyly, bilateral, fingers 3-4 (in one family)

Skeletal Feet:
clubfoot (in some patients)

Head And Neck Eyes:
nystagmus, pendular (in one family)

Clinical features from OMIM®:

613681 (Updated 05-Apr-2021)

Drugs & Therapeutics for Chromosome 2q31.1 Duplication Syndrome

Search Clinical Trials , NIH Clinical Center for Chromosome 2q31.1 Duplication Syndrome

Genetic Tests for Chromosome 2q31.1 Duplication Syndrome

Genetic tests related to Chromosome 2q31.1 Duplication Syndrome:

# Genetic test Affiliating Genes
1 Chromosome 2q31.1 Duplication Syndrome 29

Anatomical Context for Chromosome 2q31.1 Duplication Syndrome

Publications for Chromosome 2q31.1 Duplication Syndrome

Articles related to Chromosome 2q31.1 Duplication Syndrome:

# Title Authors PMID Year
1
Duplication at chromosome 2q31.1-q31.2 in a family presenting syndactyly and nystagmus. 57
21654727 2011
2
A dominant mesomelic dysplasia associated with a 1.0-Mb microduplication of HOXD gene cluster at 2q31.1. 57
20577005 2010

Variations for Chromosome 2q31.1 Duplication Syndrome

Expression for Chromosome 2q31.1 Duplication Syndrome

Search GEO for disease gene expression data for Chromosome 2q31.1 Duplication Syndrome.

Pathways for Chromosome 2q31.1 Duplication Syndrome

GO Terms for Chromosome 2q31.1 Duplication Syndrome

Sources for Chromosome 2q31.1 Duplication Syndrome

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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