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 53
Chromosome 4 Short Arm Deletion 72
Wolf-Hirschhorn Syndrome 72
Partial Monosomy 4p 53
4p Deletion 53
4p Monosomy 53
Deletion 4p 53
Monosomy 4p 53

Classifications:



External Ids:

UMLS 72 C1956097 C2931557

Summaries for Chromosome 4p Deletion

NIH Rare Diseases : 53 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 brain, bone and heart.

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:

41
Brain, Bone, Heart, Breast, Spleen, Eye, Skeletal Muscle

Publications for Chromosome 4p Deletion

Articles related to Chromosome 4p Deletion:

(show top 50) (show all 466)
# Title Authors PMID Year
1
De novo truncating variant in NSD2gene leading to atypical Wolf-Hirschhorn syndrome phenotype. 38
31382906 2019
2
[Wolf-Hirschhorn syndrome. Description of five cases characterized by means of single nucleotide polymorphism microarrays]. 38
31339285 2019
3
De novo loss-of-function variants in NSD2 (WHSC1) associate with a subset of Wolf-Hirschhorn syndrome. 38
31171569 2019
4
LETM1: Essential for Mitochondrial Biology and Cation Homeostasis? 38
31101453 2019
5
A Scalable Platform for Producing Recombinant Nucleosomes with Codified Histone Methyltransferase Substrate Preferences. 38
31306746 2019
6
[Prenatal diagnosis for a pedigree affected with Wolf-Hirschhorn syndrome due to a subtle chromosomal translocation]. 38
31302910 2019
7
Prenatal Diagnosis of BACs-on-Beads Assay in 3647 Cases of Amniotic Fluid Cells. 38
30326779 2019
8
LETM1 is required for mitochondrial homeostasis and cellular viability (Review). 38
30896806 2019
9
The histone methyltransferase WHSC1 is regulated by EZH2 and is important for ovarian clear cell carcinoma cell proliferation. 38
31092221 2019
10
Prenatal diagnosis of Wolf-Hirschhorn syndrome at the first trimester using chromosomal microarray analysis. 38
29635948 2019
11
Wolf-Hirschhorn Syndrome-Associated Genes Are Enriched in Motile Neural Crest Cells and Affect Craniofacial Development in Xenopus laevis. 38
31031646 2019
12
The Many Faces of Xenopus: Xenopus laevis as a Model System to Study Wolf-Hirschhorn Syndrome. 38
31297068 2019
13
Molecular Mechanisms of Leucine Zipper EF-Hand Containing Transmembrane Protein-1 Function in Health and Disease. 38
30642051 2019
14
WHSC1 acts as a prognostic indicator and functions as an oncogene in cervical cancer. 38
31354300 2019
15
De novo truncating variants in WHSC1 recapitulate the Wolf-Hirschhorn (4p16.3 microdeletion) syndrome phenotype. 38
29892088 2019
16
Post-Prandial Hyperinsulinaemic Hypoglycaemia after Oesophageal Surgery in Children. 38
30092575 2019
17
Clinical experience with multiplex ligation-dependent probe amplification for microdeletion syndromes in prenatal diagnosis: 7522 pregnant Korean women. 38
30891099 2019
18
Developmental delay and failure to thrive associated with a loss-of-function variant in WHSC1 (NSD2). 38
30345613 2018
19
Prioritization of Candidate Genes for Congenital Diaphragmatic Hernia in a Critical Region on Chromosome 4p16 using a Machine-Learning Algorithm. 38
30430034 2018
20
Risk of hepatic neoplasms in Wolf-Hirschhorn syndrome (4p-): Four new cases and review of the literature. 38
30289612 2018
21
Small 4p16.3 deletions: Three additional patients and review of the literature. 38
30244530 2018
22
Natural histories of patients with Wolf-Hirschhorn syndrome derived from variable chromosomal abnormalities. 38
30378700 2018
23
LETM1 couples mitochondrial DNA metabolism and nutrient preference. 38
30012579 2018
24
Dissecting the Wolf-Hirschhorn syndrome phenotype: WHSC1 is a neurodevelopmental gene contributing to growth delay, intellectual disability, and to the facial dysmorphism. 38
29884796 2018
25
Prenatal diagnosis of Wolf-Hirschhorn syndrome: from ultrasound findings, diagnostic technology to genetic counseling. 38
29808250 2018
26
De novo nonsense mutation in WHSC1 (NSD2) in patient with intellectual disability and dysmorphic features. 38
29760529 2018
27
Prenatal diagnosis of Wolf-Hirschhorn syndrome: Ultrasonography and molecular karyotyping results. 38
29626710 2018
28
Congenital cavitary optic disc anomaly and Axenfeld's anomaly in Wolf-Hirschhorn syndrome: A case report and review of the literature. 38
29199884 2018
29
A survey of antiepileptic drug responses identifies drugs with potential efficacy for seizure control in Wolf-Hirschhorn syndrome. 38
29477837 2018
30
Oligonephronia and Wolf-Hirschhorn syndrome: A further observation. 38
29193639 2018
31
Cytogenomic Integrative Network Analysis of the Critical Region Associated with Wolf-Hirschhorn Syndrome. 38
29721507 2018
32
Human ring chromosome registry for cases in the Chinese population: re-emphasizing Cytogenomic and clinical heterogeneity and reviewing diagnostic and treatment strategies. 38
29492108 2018
33
Detecting TF-miRNA-gene network based modules for 5hmC and 5mC brain samples: a intra- and inter-species case-study between human and rhesus. 38
29357837 2018
34
Growth trajectory and pubertal tempo from birth till final height in a girl with Wolf-Hirschhorn syndrome. 38
29675261 2018
35
Recombinant chromosome 4 in two fetuses - case report and literature review. 38
30166997 2018
36
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. 38
29241927 2017
37
A structured assessment of motor function, behavior, and communication in patients with Wolf-Hirschhorn syndrome. 38
28818479 2017
38
[Prenatal genetic analysis of a fetus with Wolf-Hirschhorn syndrome and Edward syndrome]. 38
28981940 2017
39
[Application of chromosomal microarray analysis for fetuses with ventricular septal defects]. 38
28981937 2017
40
[Wolf-Hirschhorn syndrome: just a citation omission?] 38
28849869 2017
41
Wolf-Hirschhorn Syndrome: Clinical and Genetic Data from a First Case Diagnosed in Central Africa. 38
28794913 2017
42
Hepatoblastoma and Wolf-Hirschhorn syndrome: Coincidence or a new feature of a rare disease? 38
28786167 2017
43
Anesthetic considerations for a pediatric patient with Wolf-Hirschhorn syndrome: a case report. 38
29090255 2017
44
[Wolf-Hirschhorn syndrome: just a citation omission? Reply]. 38
28849870 2017
45
Treatment of intractable seizure in Wolf-Hirschhorn syndrome with bromide. 38
28377151 2017
46
Wolf-Hirschhorn Syndrome Candidate 1 (whsc1) Functions as a Tumor Suppressor by Governing Cell Differentiation. 38
28654864 2017
47
Report of an unsual case of anophthalmia and craniofacial cleft in a newborn with Toxoplasma gondii congenital infection. 38
28673238 2017
48
De novo unbalanced translocation (4p duplication/8p deletion) in a patient with autism, OCD, and overgrowth syndrome. 38
28407363 2017
49
Wolf-Hirschhorn syndrome candidate 1-like 1 epigenetically regulates nephrin gene expression. 38
28228401 2017
50
Hepatic Malignancy in an Infant with Wolf-Hirschhorn Syndrome. 38
28266898 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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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