MCID: CHR263
MIFTS: 13

Chromosome 7q Duplication

Categories: Rare diseases

Aliases & Classifications for Chromosome 7q Duplication

MalaCards integrated aliases for Chromosome 7q Duplication:

Name: Chromosome 7q Duplication 53
Chromosome 7, Trisomy 7q 73
Partial Trisomy 7q 53
7q Duplication 53
Duplication 7q 53
7q Trisomy 53
Trisomy 7q 53

Classifications:



External Ids:

UMLS 73 C0795821

Summaries for Chromosome 7q Duplication

NIH Rare Diseases : 53 Chromosome 7q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 7q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.

MalaCards based summary : Chromosome 7q Duplication, also known as chromosome 7, trisomy 7q, is related to glaucoma 3, primary congenital, a and hydrocephalus, congenital, 1.

Related Diseases for Chromosome 7q Duplication

Diseases related to Chromosome 7q Duplication via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 glaucoma 3, primary congenital, a 10.0
2 hydrocephalus, congenital, 1 10.0
3 agammaglobulinemia 10.0
4 chromosomal triplication 10.0
5 chromosome 21q deletion 10.0
6 west syndrome 9.9

Graphical network of the top 20 diseases related to Chromosome 7q Duplication:



Diseases related to Chromosome 7q Duplication

Symptoms & Phenotypes for Chromosome 7q Duplication

Drugs & Therapeutics for Chromosome 7q Duplication

Search Clinical Trials , NIH Clinical Center for Chromosome 7q Duplication

Genetic Tests for Chromosome 7q Duplication

Anatomical Context for Chromosome 7q Duplication

Publications for Chromosome 7q Duplication

Articles related to Chromosome 7q Duplication:

# Title Authors Year
1
Partial trisomy 7q and monosomy 13q in a child with disorder of sex development: phenotypic and genotypic findings. ( 23201896 )
2013
2
Hypogammaglobulinemia and Silver-Russell phenotype associated with partial trisomy 7q and partial monosomy 21q. ( 19161136 )
2009
3
Congenital glaucoma and Silver-Russell phenotype associated with partial trisomy 7q and monosomy 15q. ( 11754068 )
2001
4
Prenatal diagnosis of a partial trisomy 7q in two fetuses with bilateral ventriculomegaly. ( 11113903 )
2000

Variations for Chromosome 7q Duplication

Expression for Chromosome 7q Duplication

Search GEO for disease gene expression data for Chromosome 7q Duplication.

Pathways for Chromosome 7q Duplication

GO Terms for Chromosome 7q Duplication

Sources for Chromosome 7q Duplication

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
Content
Loading form....