MCID: CHR365
MIFTS: 13

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 73
Mesomelic Dysplasia, 2q31.1 Duplication-Related 57

Characteristics:

OMIM:

57
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:

32
chromosome 2q31.1 duplication syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 613681
Disease Ontology 12 DOID:0060458
MedGen 42 C3150940
UMLS 73 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 short stature and talipes equinovarus

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

Symptoms via clinical synopsis from OMIM:

57
Growth Height:
short stature

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

Skeletal Feet:
clubfoot (in some patients)

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)


Clinical features from OMIM:

613681

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

32
# Description HPO Frequency HPO Source Accession
1 short stature 32 HP:0004322
2 talipes equinovarus 32 occasional (7.5%) HP:0001762
3 cutaneous syndactyly 32 HP:0012725
4 pendular nystagmus 32 occasional (7.5%) HP:0012043

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

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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