MCID: CHR221
MIFTS: 6

Chromosome 1p Duplication

Categories: Rare diseases

Aliases & Classifications for Chromosome 1p Duplication

MalaCards integrated aliases for Chromosome 1p Duplication:

Name: Chromosome 1p Duplication 49
Trisomy 1p 49 69
Partial Trisomy 1p 49
1p Duplication 49
Duplication 1p 49
1p Trisomy 49

Classifications:



External Ids:

UMLS 69 C0795797

Summaries for Chromosome 1p Duplication

NIH Rare Diseases : 49 Chromosome 1p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 1. 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 1p 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. Last updated: 5/7/2015

MalaCards based summary : Chromosome 1p Duplication, is also known as trisomy 1p.

Related Diseases for Chromosome 1p Duplication

Symptoms & Phenotypes for Chromosome 1p Duplication

Drugs & Therapeutics for Chromosome 1p Duplication

Search Clinical Trials , NIH Clinical Center for Chromosome 1p Duplication

Genetic Tests for Chromosome 1p Duplication

Anatomical Context for Chromosome 1p Duplication

Publications for Chromosome 1p Duplication

Variations for Chromosome 1p Duplication

Expression for Chromosome 1p Duplication

Search GEO for disease gene expression data for Chromosome 1p Duplication.

Pathways for Chromosome 1p Duplication

GO Terms for Chromosome 1p Duplication

Sources for Chromosome 1p Duplication

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16 ExPASy
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65 SNOMED-CT via HPO
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67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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