MCID: CHR247
MIFTS: 18

Chromosome 4p Deletion malady

Categories: Rare diseases

Aliases & Classifications for Chromosome 4p Deletion

Aliases & Descriptions for Chromosome 4p Deletion:

Name: Chromosome 4p Deletion 50
Partial Monosomy 4p 50 29
Chromosome 4 Short Arm Deletion 69
Wolf-Hirschhorn Syndrome 69
Monosomy 4p 50
4p Deletion 50
4p Monosomy 50
Deletion 4p 50

Classifications:



Summaries for Chromosome 4p Deletion

NIH Rare Diseases : 50 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 An important gene associated with Chromosome 4p Deletion is WFS1 (Wolframin ER Transmembrane Glycoprotein).

Related Diseases for Chromosome 4p Deletion

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

id Related Disease Score Top Affiliating Genes
1 wolf-hirschhorn syndrome 11.4
2 juvenile glaucoma 9.8

Symptoms & Phenotypes for Chromosome 4p Deletion

UMLS symptoms related to Chromosome 4p Deletion:


seizures

Drugs & Therapeutics for Chromosome 4p Deletion

Interventional clinical trials:


id Name Status NCT ID Phase
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Chromosome 4p Deletion

Genetic Tests for Chromosome 4p Deletion

Genetic tests related to Chromosome 4p Deletion:

id Genetic test Affiliating Genes
1 4p Partial Monosomy Syndrome 29

Anatomical Context for Chromosome 4p Deletion

Publications for Chromosome 4p Deletion

Articles related to Chromosome 4p Deletion:

id Title Authors Year
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

Expression for Chromosome 4p Deletion

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

Pathways for Chromosome 4p Deletion

GO Terms for Chromosome 4p Deletion

Sources for Chromosome 4p Deletion

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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