MCID: CHR247
MIFTS: 18

Chromosome 4p Deletion malady

Rare diseases category

Aliases & Classifications for Chromosome 4p Deletion

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Aliases & Descriptions for Chromosome 4p Deletion:

Name: Chromosome 4p Deletion 45
Partial Monosomy 4p 45 24
Chromosome 4 Short Arm Deletion 65
Wolf-Hirschhorn Syndrome 65
 
4p Deletion 45
Monosomy 4p 45
Deletion 4p 45
4p Monosomy 45


Classifications:



Summaries for Chromosome 4p Deletion

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NIH Rare Diseases:45 Chromosome 4p 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 4. 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 4p 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. last updated: 6/29/2015

MalaCards based summary: Chromosome 4p Deletion, also known as partial monosomy 4p, is related to wolf-hirschhorn syndrome and juvenile glaucoma. An important gene associated with Chromosome 4p Deletion is WFS1 (Wolfram Syndrome 1 (Wolframin)).

Related Diseases for Chromosome 4p Deletion

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Diseases related to Chromosome 4p Deletion via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1wolf-hirschhorn syndrome10.6
2juvenile glaucoma10.2
3split hand foot malformation10.2
4split hand10.2
5angelman syndrome10.2

Graphical network of diseases related to Chromosome 4p Deletion:



Diseases related to chromosome 4p deletion

Symptoms for Chromosome 4p Deletion

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Drugs & Therapeutics for Chromosome 4p Deletion

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Chromosome 4p Deletion

Genetic Tests for Chromosome 4p Deletion

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Genetic tests related to Chromosome 4p Deletion:

id Genetic test Affiliating Genes
1 4p Partial Monosomy Syndrome24

Anatomical Context for Chromosome 4p Deletion

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Animal Models for Chromosome 4p Deletion or affiliated genes

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Publications for Chromosome 4p Deletion

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Articles related to Chromosome 4p Deletion:

idTitleAuthorsYear
1
Clinical characterization and proposed mechanism of juvenile glaucoma--a patient with a chromosome 4p deletion, Wolf-Hirschhorn Syndrome. (20569021)
2010
2
Unmasking of a hemizygous WFS1 gene mutation by a chromosome 4p deletion of 8.3 Mb in a patient with Wolf-Hirschhorn syndrome. (17637805)
2007
3
Molecular and clinical characterization of a patient with a chromosome 4p deletion, Wolf-Hirschhorn syndrome, and congenital glaucoma. (11262648)
2001
4
Molecular characterisation of chromosome 4p deletions resulting in Wolf-Hirschhorn syndrome. (8182713)
1994
5
Parental origin of chromosome 4p deletion in Wolf-Hirschhorn syndrome. (7904122)
1993

Variations for Chromosome 4p Deletion

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Expression for genes affiliated with Chromosome 4p Deletion

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Search GEO for disease gene expression data for Chromosome 4p Deletion.

Pathways for genes affiliated with Chromosome 4p Deletion

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GO Terms for genes affiliated with Chromosome 4p Deletion

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Sources for Chromosome 4p Deletion

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet