MCID: CHR247
MIFTS: 22

Chromosome 4p Deletion

Categories: Rare diseases

Aliases & Classifications for Chromosome 4p Deletion

MalaCards integrated aliases for Chromosome 4p Deletion:

Name: Chromosome 4p Deletion 52
Chromosome 4 Short Arm Deletion 71
Wolf-Hirschhorn Syndrome 71
Partial Monosomy 4p 52
4p Deletion 52
4p Monosomy 52
Deletion 4p 52
Monosomy 4p 52

Classifications:



External Ids:

UMLS 71 C1956097 C2931557

Summaries for Chromosome 4p Deletion

NIH Rare Diseases : 52 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.

MalaCards based summary : Chromosome 4p Deletion, also known as chromosome 4 short arm deletion, is related to wolf-hirschhorn syndrome and chromosome 10q duplication, and has symptoms including seizures An important gene associated with Chromosome 4p Deletion is WFS1 (Wolframin ER Transmembrane Glycoprotein). Affiliated tissues include bone, brain and breast.

Related Diseases for Chromosome 4p Deletion

Graphical network of the top 20 diseases related to Chromosome 4p Deletion:



Diseases related to Chromosome 4p Deletion

Symptoms & Phenotypes for Chromosome 4p Deletion

UMLS symptoms related to Chromosome 4p Deletion:


seizures

Drugs & Therapeutics for Chromosome 4p Deletion

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Chromosome 4p Deletion

Genetic Tests for Chromosome 4p Deletion

Anatomical Context for Chromosome 4p Deletion

MalaCards organs/tissues related to Chromosome 4p Deletion:

40
Bone, Brain, Breast, Heart, Eye, Spleen, Skeletal Muscle

Publications for Chromosome 4p Deletion

Articles related to Chromosome 4p Deletion:

(show top 50) (show all 479)
# Title Authors PMID Year
1
Hip displacement in Wolf-Hirschhorn syndrome: Report on three cases and review of associated musculoskeletal pathologies. 61
32259397 2020
2
H3K36 dimethylation by MMSET promotes classical non-homologous end-joining at unprotected telomeres. 61
32472076 2020
3
Wolf-Hirschhorn syndrome: Prenatal diagnosis and molecular cytogenetic characterization of a de novo distal deletion of 4p (4p16.1 → pter) in a fetus with facial cleft and preaxial polydactyly. 61
32416892 2020
4
Acute NelfA knockdown restricts compensatory gene expression and precipitates ventricular dysfunction during cardiac hypertrophy. 61
32278832 2020
5
Olfactory hypoplasia and oculomotor nerve hypoplasia in a patient with Wolf-Hirschhorn syndrome. 61
32424504 2020
6
WHSC1 promotes wnt/β-catenin signaling in a FoxM1-dependent manner facilitating proliferation, invasion and epithelial-mesenchymal transition in breast cancer. 61
32314642 2020
7
Melatonin reverses the oxidative stress and mitochondrial dysfunction caused by LETM1 silencing. 61
31777134 2020
8
Prenatal Diagnosis and Molecular Cytogenetic Characterization of Copy Number Variations on 4p15.2p16.3, Xp22.31, and 12p11.1q11 in a Fetus with Ultrasound Anomalies: A Case Report and Literature Review. 61
32566663 2020
9
International meeting on Wolf-Hirschhorn syndrome: Update on the nosology and new insights on the pathogenic mechanisms for seizures and growth delay. 61
31769173 2020
10
Partial Monosomy 4p and Trisomy 12q due to a t(4;12)(p16.3;q24.31) Familial Translocation in Two Cousins. 61
32021597 2020
11
Do microdeletions lead to immune deficiency? 61
32425682 2020
12
Nonossified cervical vertebrae in Wolf-Hirschhorn Syndrome: A case report. 61
31852098 2019
13
A Scalable Platform for Producing Recombinant Nucleosomes with Codified Histone Methyltransferase Substrate Preferences. 61
31306746 2019
14
Severe congenital bilateral corneal ulceration due to Wolf-Hirschhorn syndrome: a case-report and review of the ophthalmic literature. 61
31513906 2019
15
Natural histories of patients with Wolf-Hirschhorn syndrome derived from variable chromosomal abnormalities. 61
30378700 2019
16
De novo truncating variant in NSD2gene leading to atypical Wolf-Hirschhorn syndrome phenotype. 61
31382906 2019
17
[Wolf-Hirschhorn syndrome. Description of five cases characterized by means of single nucleotide polymorphism microarrays]. 61
31339285 2019
18
De novo loss-of-function variants in NSD2 (WHSC1) associate with a subset of Wolf-Hirschhorn syndrome. 61
31171569 2019
19
LETM1: Essential for Mitochondrial Biology and Cation Homeostasis? 61
31101453 2019
20
[Prenatal diagnosis for a pedigree affected with Wolf-Hirschhorn syndrome due to a subtle chromosomal translocation]. 61
31302910 2019
21
Prenatal Diagnosis of BACs-on-Beads Assay in 3647 Cases of Amniotic Fluid Cells. 61
30326779 2019
22
LETM1 is required for mitochondrial homeostasis and cellular viability (Review). 61
30896806 2019
23
The histone methyltransferase WHSC1 is regulated by EZH2 and is important for ovarian clear cell carcinoma cell proliferation. 61
31092221 2019
24
Prenatal diagnosis of Wolf-Hirschhorn syndrome at the first trimester using chromosomal microarray analysis. 61
29635948 2019
25
The Many Faces of Xenopus: Xenopus laevis as a Model System to Study Wolf-Hirschhorn Syndrome. 61
31297068 2019
26
Molecular Mechanisms of Leucine Zipper EF-Hand Containing Transmembrane Protein-1 Function in Health and Disease. 61
30642051 2019
27
WHSC1 acts as a prognostic indicator and functions as an oncogene in cervical cancer. 61
31354300 2019
28
Post-Prandial Hyperinsulinaemic Hypoglycaemia after Oesophageal Surgery in Children. 61
30092575 2019
29
De novo truncating variants in WHSC1 recapitulate the Wolf-Hirschhorn (4p16.3 microdeletion) syndrome phenotype. 61
29892088 2019
30
Wolf-Hirschhorn Syndrome-Associated Genes Are Enriched in Motile Neural Crest Cells and Affect Craniofacial Development in Xenopus laevis. 61
31031646 2019
31
Clinical experience with multiplex ligation-dependent probe amplification for microdeletion syndromes in prenatal diagnosis: 7522 pregnant Korean women. 61
30891099 2019
32
Developmental delay and failure to thrive associated with a loss-of-function variant in WHSC1 (NSD2). 61
30345613 2018
33
Prioritization of Candidate Genes for Congenital Diaphragmatic Hernia in a Critical Region on Chromosome 4p16 using a Machine-Learning Algorithm. 61
30430034 2018
34
Small 4p16.3 deletions: Three additional patients and review of the literature. 61
30244530 2018
35
Risk of hepatic neoplasms in Wolf-Hirschhorn syndrome (4p-): Four new cases and review of the literature. 61
30289612 2018
36
LETM1 couples mitochondrial DNA metabolism and nutrient preference. 61
30012579 2018
37
Dissecting the Wolf-Hirschhorn syndrome phenotype: WHSC1 is a neurodevelopmental gene contributing to growth delay, intellectual disability, and to the facial dysmorphism. 61
29884796 2018
38
Prenatal diagnosis of Wolf-Hirschhorn syndrome: from ultrasound findings, diagnostic technology to genetic counseling. 61
29808250 2018
39
De novo nonsense mutation in WHSC1 (NSD2) in patient with intellectual disability and dysmorphic features. 61
29760529 2018
40
Prenatal diagnosis of Wolf-Hirschhorn syndrome: Ultrasonography and molecular karyotyping results. 61
29626710 2018
41
Congenital cavitary optic disc anomaly and Axenfeld's anomaly in Wolf-Hirschhorn syndrome: A case report and review of the literature. 61
29199884 2018
42
A survey of antiepileptic drug responses identifies drugs with potential efficacy for seizure control in Wolf-Hirschhorn syndrome. 61
29477837 2018
43
Oligonephronia and Wolf-Hirschhorn syndrome: A further observation. 61
29193639 2018
44
Cytogenomic Integrative Network Analysis of the Critical Region Associated with Wolf-Hirschhorn Syndrome. 61
29721507 2018
45
Human ring chromosome registry for cases in the Chinese population: re-emphasizing Cytogenomic and clinical heterogeneity and reviewing diagnostic and treatment strategies. 61
29492108 2018
46
Detecting TF-miRNA-gene network based modules for 5hmC and 5mC brain samples: a intra- and inter-species case-study between human and rhesus. 61
29357837 2018
47
Growth trajectory and pubertal tempo from birth till final height in a girl with Wolf-Hirschhorn syndrome. 61
29675261 2018
48
Recombinant chromosome 4 in two fetuses - case report and literature review. 61
30166997 2018
49
Prenatal diagnosis of a 1.6-Mb 4p16.3 interstitial microdeletion encompassing FGFRL1 and TACC3 associated with bilateral cleft lip and palate of Wolf-Hirschhorn syndrome facial dysmorphism and short long bones. 61
29241927 2017
50
A structured assessment of motor function, behavior, and communication in patients with Wolf-Hirschhorn syndrome. 61
28818479 2017

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
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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