MCID: CHR247
MIFTS: 17

Chromosome 4p Deletion malady

Category: Rare diseases

Aliases & Classifications for Chromosome 4p Deletion

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Aliases & Descriptions for Chromosome 4p Deletion:

Name: Chromosome 4p Deletion 48
Partial Monosomy 4p 48 27
Chromosome 4 Short Arm Deletion 68
Wolf-Hirschhorn Syndrome 68
 
Deletion 4p 48
4p Monosomy 48
Monosomy 4p 48
4p Deletion 48

Classifications:



Summaries for Chromosome 4p Deletion

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NIH Rare Diseases:48 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, and has symptoms including seizures and seizures. An important gene associated with Chromosome 4p Deletion is WFS1 (Wolframin ER Transmembrane Glycoprotein).

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 syndrome11.4
2juvenile glaucoma9.8

Symptoms & Phenotypes for Chromosome 4p Deletion

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UMLS symptoms related to Chromosome 4p Deletion:


seizures

Drugs & Therapeutics for Chromosome 4p Deletion

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168

Search 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 Syndrome27

Anatomical Context for Chromosome 4p Deletion

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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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet