MCID: CHR247
MIFTS: 23

Chromosome 4p Deletion

Categories: Rare diseases

Aliases & Classifications for Chromosome 4p Deletion

MalaCards integrated aliases for Chromosome 4p Deletion:

Name: Chromosome 4p Deletion 49
Chromosome 4 Short Arm Deletion 69 28
4p Partial Monosomy Syndrome 28
Wolf-Hirschhorn Syndrome 69
Partial Monosomy 4p 49
Monosomy 4p 49
4p Deletion 49
4p Monosomy 49
Deletion 4p 49

Classifications:



External Ids:

UMLS 69 C2931557

Summaries for Chromosome 4p Deletion

NIH Rare Diseases : 49 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 chromosome 4 short arm deletion, is related to wolf-hirschhorn syndrome and juvenile glaucoma, and has symptoms including seizures An important gene associated with Chromosome 4p Deletion is LETM1 (Leucine Zipper And EF-Hand Containing Transmembrane Protein 1). Related phenotypes are growth/size/body region and mortality/aging

Related Diseases for Chromosome 4p Deletion

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

# Related Disease Score Top Affiliating Genes
1 wolf-hirschhorn syndrome 31.5 LETM1 NSD2 WFS1
2 juvenile glaucoma 9.8
3 chromosomal deletion syndrome 9.6 LETM1 NSD2

Symptoms & Phenotypes for Chromosome 4p Deletion

UMLS symptoms related to Chromosome 4p Deletion:


seizures

MGI Mouse Phenotypes related to Chromosome 4p Deletion:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.43 CPLX1 CTBP1 FGFRL1 LETM1 NSD2 WFS1
2 mortality/aging MP:0010768 9.1 CPLX1 CTBP1 FGFRL1 LETM1 NSD2 WFS1

Drugs & Therapeutics for Chromosome 4p Deletion

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
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:

# Genetic test Affiliating Genes
1 4p Partial Monosomy Syndrome 28 CPLX1 CTBP1 FGFRL1 LETM1 NSD2
2 Chromosome 4 Short Arm Deletion 28

Anatomical Context for Chromosome 4p Deletion

Publications for Chromosome 4p Deletion

Articles related to Chromosome 4p Deletion:

# 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

Biological processes related to Chromosome 4p Deletion according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein homooligomerization GO:0051260 8.96 FGFRL1 LETM1
2 negative regulation of transcription by RNA polymerase II GO:0000122 8.8 CTBP1 NSD2 WFS1

Sources for Chromosome 4p Deletion

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