MCID: CHR365
MIFTS: 12

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 58 12 30 13 74
Mesomelic Dysplasia, 2q31.1 Duplication-Related 58

Characteristics:

OMIM:

58
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:

33
chromosome 2q31.1 duplication syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060458
OMIM 58 613681
MedGen 43 C3150940
UMLS 74 C3150940

Summaries for Chromosome 2q31.1 Duplication Syndrome

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

Description 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 11.3

Symptoms & Phenotypes for Chromosome 2q31.1 Duplication Syndrome

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

33
# Description HPO Frequency HPO Source Accession
1 talipes equinovarus 33 occasional (7.5%) HP:0001762
2 pendular nystagmus 33 occasional (7.5%) HP:0012043
3 short stature 33 HP:0004322
4 cutaneous syndactyly 33 HP:0012725

Symptoms via clinical synopsis from OMIM:

58
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

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 30

Anatomical Context for Chromosome 2q31.1 Duplication Syndrome

Publications for Chromosome 2q31.1 Duplication Syndrome

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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