General Information of Disease (ID: DIS7KRZL)

Disease Name Partial deletion of the short arm of chromosome 1
Synonyms
chromosome 1p deletion; deletion 1p; loss of chromosome 1p; 1p monosomy; del(1p); monosomy 1p; partial monosomy 1p; 1p deletion; partial deletion of chromosome 1p; partial deletion of the short arm of chromosome type 1; partial monosomy of the short arm of chromosome 1; partial monosomy of chromosome 1p
Definition
Chromosome 1p deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located 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 deletion and which genes are involved. Features that often occur in people with chromosome 1p deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.
Disease Hierarchy
DIS1DD8C: Syndrome caused by partial chromosomal deletion
:
DIS7KRZL: Partial deletion of the short arm of chromosome 1
Disease Identifiers
MONDO ID
MONDO_0016883
MESH ID
C535591
UMLS CUI
C0795796
MedGen ID
208633
Orphanet ID
261857
SNOMED CT ID
36369001