MCID: CHR247
MIFTS: 20

Chromosome 4p Deletion malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Chromosome 4p Deletion

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Aliases & Descriptions for Chromosome 4p Deletion:

Name: Chromosome 4p Deletion 46
Partial Monosomy 4p 46 25
Chromosome 4 Short Arm Deletion 66
Wolf-Hirschhorn Syndrome 66
 
Deletion 4p 46
4p Monosomy 46
4p Deletion 46
Monosomy 4p 46

Classifications:



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ICD1028 Q93.3

Summaries for Chromosome 4p Deletion

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NIH Rare Diseases:46 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 syndrome11.5
2juvenile glaucoma9.9

Symptoms 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 Syndrome25

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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet