MCID: CHR247
MIFTS: 32

Chromosome 4p Deletion

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Chromosome 4p Deletion

MalaCards integrated aliases for Chromosome 4p Deletion:

Name: Chromosome 4p Deletion 54
4p Partial Monosomy Syndrome 30 6
Chromosome 4 Short Arm Deletion 74
Wolf-Hirschhorn Syndrome 74
Partial Monosomy 4p 54
4p Deletion 54
4p Monosomy 54
Deletion 4p 54
Monosomy 4p 54

Classifications:



External Ids:

ICD10 34 Q93.3

Summaries for Chromosome 4p Deletion

NIH Rare Diseases : 54 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 4p partial monosomy syndrome, is related to wolf-hirschhorn syndrome and chromosomal triplication, and has symptoms including seizures An important gene associated with Chromosome 4p Deletion is NSD2 (Nuclear Receptor Binding SET Domain Protein 2). Affiliated tissues include bone, brain and heart, and 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:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 wolf-hirschhorn syndrome 31.7 LETM1 NSD2 WFS1
2 chromosomal triplication 10.3
3 split hand-foot malformation 10.0
4 chromosome 10p duplication 10.0
5 wolfram syndrome 1 10.0
6 glaucoma 3, primary congenital, a 10.0
7 juvenile glaucoma 10.0
8 angelman syndrome 9.9
9 oligomeganephronia 9.9
10 chromosome 4p duplication 9.9
11 chromosomal deletion syndrome 9.5 LETM1 NSD2

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

MGI Mouse Phenotypes related to Chromosome 4p Deletion:

47
# 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 30 CPLX1 CTBP1 FGFRL1 LETM1 NSD2

Anatomical Context for Chromosome 4p Deletion

MalaCards organs/tissues related to Chromosome 4p Deletion:

42
Bone, Brain, Heart, Testes, Lung, Eye, Spleen

Publications for Chromosome 4p Deletion

Articles related to Chromosome 4p Deletion:

(show top 50) (show all 259)
# Title Authors Year
1
Wolf-Hirschhorn Syndrome-Associated Genes Are Enriched in Motile Neural Crest Cells and Affect Craniofacial Development in Xenopus laevis. ( 31031646 )
2019
2
Prenatal diagnosis of Wolf-Hirschhorn syndrome at the first trimester using chromosomal microarray analysis. ( 29635948 )
2019
3
Natural histories of patients with Wolf-Hirschhorn syndrome derived from variable chromosomal abnormalities. ( 30378700 )
2018
4
Risk of hepatic neoplasms in Wolf-Hirschhorn syndrome (4p-): Four new cases and review of the literature. ( 30289612 )
2018
5
Dissecting the Wolf-Hirschhorn syndrome phenotype: WHSC1 is a neurodevelopmental gene contributing to growth delay, intellectual disability, and to the facial dysmorphism. ( 29884796 )
2018
6
Prenatal diagnosis of Wolf-Hirschhorn syndrome: from ultrasound findings, diagnostic technology to genetic counseling. ( 29808250 )
2018
7
Cytogenomic Integrative Network Analysis of the Critical Region Associated with Wolf-Hirschhorn Syndrome. ( 29721507 )
2018
8
Growth trajectory and pubertal tempo from birth till final height in a girl with Wolf-Hirschhorn syndrome. ( 29675261 )
2018
9
Prenatal diagnosis of Wolf-Hirschhorn syndrome: Ultrasonography and molecular karyotyping results. ( 29626710 )
2018
10
A survey of antiepileptic drug responses identifies drugs with potential efficacy for seizure control in Wolf-Hirschhorn syndrome. ( 29477837 )
2018
11
Congenital cavitary optic disc anomaly and Axenfeld's anomaly in Wolf-Hirschhorn syndrome: A case report and review of the literature. ( 29199884 )
2018
12
Oligonephronia and Wolf-Hirschhorn syndrome: A further observation. ( 29193639 )
2018
13
Diabetes Mellitus Secondary to Acute Pancreatitis in a Child with Wolf-Hirschhorn Syndrome. ( 29204299 )
2017
14
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. ( 29241927 )
2017
15
Hepatoblastoma and Wolf-Hirschhorn syndrome: Coincidence or a new feature of a rare disease? ( 28786167 )
2017
16
Single port laparoscopic splenectomy for wandering spleen with splenomegaly in a patient with Wolf-Hirschhorn syndrome. ( 28281478 )
2017
17
Anesthetic considerations for a pediatric patient with Wolf-Hirschhorn syndrome: a case report. ( 29090255 )
2017
18
A structured assessment of motor function, behavior, and communication in patients with Wolf-Hirschhorn syndrome. ( 28818479 )
2017
19
Wolf-Hirschhorn Syndrome: Clinical and Genetic Data from a First Case Diagnosed in Central Africa. ( 28794913 )
2017
20
Wolf-Hirschhorn Syndrome Candidate 1 (whsc1) Functions as a Tumor Suppressor by Governing Cell Differentiation. ( 28654864 )
2017
21
Wolf-Hirschhorn Syndrome Candidate 1 Is Necessary for Correct Hematopoietic and B Cell Development. ( 28538178 )
2017
22
Treatment of intractable seizure in Wolf-Hirschhorn syndrome with bromide. ( 28377151 )
2017
23
Hepatic Malignancy in an Infant with Wolf-Hirschhorn Syndrome. ( 28266898 )
2017
24
Wolf-Hirschhorn syndrome candidate 1-like 1 epigenetically regulates nephrin gene expression. ( 28228401 )
2017
25
A case for cannabidiol in Wolf-Hirschhorn syndrome seizure management. ( 28102593 )
2017
26
Neuroblastoma in a Child With Wolf-Hirschhorn Syndrome. ( 28085742 )
2017
27
[Wolf-Hirschhorn syndrome: just a citation omission?] ( 28849869 )
2017
28
Excellent response to levetiracetam in epilepsy with Wolf-Hirschhorn syndrome. ( 26590026 )
2016
29
Chromosomal microarray testing identifies a 4p terminal region associated with seizures in Wolf-Hirschhorn syndrome. ( 26747863 )
2016
30
Successful treatment of migrating partial seizures in Wolf-Hirschhorn syndrome with bromide. ( 26797656 )
2016
31
Detection of recurrent 4p16.3 microdeletion with 2p25.3 microduplication by multiplex ligation-dependent probe amplification and array comparative genomic hybridization in a fetus from a family with Wolf-Hirschhorn syndrome. ( 26927259 )
2016
32
Analyses of Genotypes and Phenotypes of Ten Chinese Patients with Wolf-Hirschhorn Syndrome by Multiplex Ligation-dependent Probe Amplification and Array Comparative Genomic Hybridization. ( 26960370 )
2016
33
Airway Management in a Patient with Wolf-Hirschhorn Syndrome. ( 27752382 )
2016
34
Early Postnatal Seizures in a Neonate with Wolf-Hirschhorn Syndrome. ( 27994945 )
2016
35
Wolf-Hirschhorn Syndrome with Epibulbar Dermoid: An Unusual Association in a Patient with 4p Deletion and Functional Xp Disomy. ( 27842301 )
2016
36
Exploring the developmental mechanisms underlying Wolf-Hirschhorn Syndrome: Evidence for defects in neural crest cell migration. ( 27777068 )
2016
37
Severe short stature and Wolf-Hirschhorn syndrome: response to growth hormone in two cases without growth hormone deficiency. ( 25988083 )
2015
38
Atypical Varicella in a Patient With Wolf-Hirschhorn Syndrome. ( 25673626 )
2015
39
Uncommon oral cleft in Wolf-Hirschhorn syndrome. ( 25831115 )
2015
40
Auditory hair cell defects as potential cause for sensorineural deafness in Wolf-Hirschhorn syndrome. ( 26092122 )
2015
41
Wolf-Hirschhorn syndrome: A review and update. ( 26239400 )
2015
42
Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. ( 25782669 )
2015
43
Affinity for music in Wolf-Hirschhorn syndrome: two case reports. ( 25266617 )
2014
44
A rare subtelomeric deletion syndrome: Wolf Hirschhorn syndrome. ( 25365852 )
2014
45
Phenotypic variations in wolf-hirschhorn syndrome. ( 25741211 )
2014
46
A cryptic unbalanced translocation der(4)t(4;17)(p16.1;q25.3) identifies Wittwer syndrome as a variant of Wolf-Hirschhorn syndrome. ( 25251057 )
2014
47
Wolf-Hirschhorn syndrome: a case with normal karyotype, demonstrated by array CGH (aCGH). ( 25204484 )
2014
48
Wolf-Hirschhorn syndrome: a case study and disease overview. ( 25137600 )
2014
49
Wolf-Hirschhorn syndrome (WHS) - literature review on the features of the syndrome. ( 24979523 )
2014
50
Extensive Mongolian spots in 4p16.3 deletion (Wolf-Hirschhorn syndrome). ( 24859493 )
2014

Variations for Chromosome 4p Deletion

ClinVar genetic disease variations for Chromosome 4p Deletion:

6 (show top 50) (show all 233)
# Gene Variation Type Significance SNP ID Assembly Location
1 NSD2 NM_133330.2(NSD2): c.-384-5dupT duplication Uncertain significance rs886059308 GRCh38 Chromosome 4, 1893725: 1893725
2 NSD2 NM_133330.2(NSD2): c.-384-5dupT duplication Uncertain significance rs886059308 GRCh37 Chromosome 4, 1895452: 1895452
3 NSD2 NM_133330.2(NSD2): c.-145C> T single nucleotide variant Likely benign rs569542496 GRCh38 Chromosome 4, 1899280: 1899280
4 NSD2 NM_133330.2(NSD2): c.-145C> T single nucleotide variant Likely benign rs569542496 GRCh37 Chromosome 4, 1901007: 1901007
5 NSD2 NM_133330.2(NSD2): c.-119G> A single nucleotide variant Likely benign rs550551908 GRCh38 Chromosome 4, 1899306: 1899306
6 NSD2 NM_133330.2(NSD2): c.-119G> A single nucleotide variant Likely benign rs550551908 GRCh37 Chromosome 4, 1901033: 1901033
7 NSD2 NM_133330.2(NSD2): c.-59A> G single nucleotide variant Likely benign rs147609440 GRCh38 Chromosome 4, 1899366: 1899366
8 NSD2 NM_133330.2(NSD2): c.-59A> G single nucleotide variant Likely benign rs147609440 GRCh37 Chromosome 4, 1901093: 1901093
9 NSD2 NM_133330.2(NSD2): c.-43G> A single nucleotide variant Likely benign rs116056077 GRCh38 Chromosome 4, 1899382: 1899382
10 NSD2 NM_133330.2(NSD2): c.-43G> A single nucleotide variant Likely benign rs116056077 GRCh37 Chromosome 4, 1901109: 1901109
11 NSD2 NM_133330.2(NSD2): c.114C> T (p.Cys38=) single nucleotide variant Uncertain significance rs759922625 GRCh38 Chromosome 4, 1900768: 1900768
12 NSD2 NM_133330.2(NSD2): c.114C> T (p.Cys38=) single nucleotide variant Uncertain significance rs759922625 GRCh37 Chromosome 4, 1902495: 1902495
13 NSD2 NM_133330.2(NSD2): c.198C> T (p.Asn66=) single nucleotide variant Likely benign rs140040537 GRCh38 Chromosome 4, 1900852: 1900852
14 NSD2 NM_133330.2(NSD2): c.198C> T (p.Asn66=) single nucleotide variant Likely benign rs140040537 GRCh37 Chromosome 4, 1902579: 1902579
15 NSD2 NM_133330.2(NSD2): c.199G> A (p.Gly67Ser) single nucleotide variant Uncertain significance rs202235551 GRCh38 Chromosome 4, 1900853: 1900853
16 NSD2 NM_133330.2(NSD2): c.199G> A (p.Gly67Ser) single nucleotide variant Uncertain significance rs202235551 GRCh37 Chromosome 4, 1902580: 1902580
17 NSD2 NM_133330.2(NSD2): c.456T> G (p.Ser152=) single nucleotide variant Uncertain significance rs886059314 GRCh38 Chromosome 4, 1901110: 1901110
18 NSD2 NM_133330.2(NSD2): c.456T> G (p.Ser152=) single nucleotide variant Uncertain significance rs886059314 GRCh37 Chromosome 4, 1902837: 1902837
19 NSD2 NM_133330.2(NSD2): c.990A> G (p.Glu330=) single nucleotide variant Likely benign rs143425918 GRCh38 Chromosome 4, 1918203: 1918203
20 NSD2 NM_133330.2(NSD2): c.990A> G (p.Glu330=) single nucleotide variant Likely benign rs143425918 GRCh37 Chromosome 4, 1919930: 1919930
21 NSD2 NM_133330.2(NSD2): c.1330A> G (p.Thr444Ala) single nucleotide variant Likely benign rs112014939 GRCh38 Chromosome 4, 1918543: 1918543
22 NSD2 NM_133330.2(NSD2): c.1330A> G (p.Thr444Ala) single nucleotide variant Likely benign rs112014939 GRCh37 Chromosome 4, 1920270: 1920270
23 NSD2 NM_133330.2(NSD2): c.2352G> T (p.Arg784=) single nucleotide variant Likely benign rs531537433 GRCh38 Chromosome 4, 1955174: 1955174
24 NSD2 NM_133330.2(NSD2): c.2352G> T (p.Arg784=) single nucleotide variant Likely benign rs531537433 GRCh37 Chromosome 4, 1956901: 1956901
25 NSD2 NM_133330.2(NSD2): c.3126C> T (p.His1042=) single nucleotide variant Uncertain significance rs886059318 GRCh38 Chromosome 4, 1959611: 1959611
26 NSD2 NM_133330.2(NSD2): c.3126C> T (p.His1042=) single nucleotide variant Uncertain significance rs886059318 GRCh37 Chromosome 4, 1961338: 1961338
27 NSD2 NM_133330.2(NSD2): c.3495C> T (p.Ala1165=) single nucleotide variant Likely benign rs73069117 GRCh38 Chromosome 4, 1974985: 1974985
28 NSD2 NM_133330.2(NSD2): c.3495C> T (p.Ala1165=) single nucleotide variant Likely benign rs73069117 GRCh37 Chromosome 4, 1976712: 1976712
29 NSD2 NM_133330.2(NSD2): c.3582A> G (p.Gly1194=) single nucleotide variant Likely benign rs149284685 GRCh38 Chromosome 4, 1975361: 1975361
30 NSD2 NM_133330.2(NSD2): c.3582A> G (p.Gly1194=) single nucleotide variant Likely benign rs149284685 GRCh37 Chromosome 4, 1977088: 1977088
31 NSD2 NM_133330.2(NSD2): c.*9G> A single nucleotide variant Likely benign rs373762613 GRCh38 Chromosome 4, 1978918: 1978918
32 NSD2 NM_133330.2(NSD2): c.*9G> A single nucleotide variant Likely benign rs373762613 GRCh37 Chromosome 4, 1980645: 1980645
33 NSD2 NM_133330.2(NSD2): c.*183T> C single nucleotide variant Likely benign rs192992535 GRCh38 Chromosome 4, 1979092: 1979092
34 NSD2 NM_133330.2(NSD2): c.*183T> C single nucleotide variant Likely benign rs192992535 GRCh37 Chromosome 4, 1980819: 1980819
35 NSD2 NM_133330.2(NSD2): c.*342_*344delCTC deletion Likely benign rs375129793 GRCh38 Chromosome 4, 1979251: 1979253
36 NSD2 NM_133330.2(NSD2): c.*342_*344delCTC deletion Likely benign rs375129793 GRCh37 Chromosome 4, 1980978: 1980980
37 NSD2 NM_133330.2(NSD2): c.*593G> T single nucleotide variant Likely benign rs73202837 GRCh38 Chromosome 4, 1979502: 1979502
38 NSD2 NM_133330.2(NSD2): c.*593G> T single nucleotide variant Likely benign rs73202837 GRCh37 Chromosome 4, 1981229: 1981229
39 NSD2 NM_133330.2(NSD2): c.*620T> A single nucleotide variant Likely benign rs1132849 GRCh38 Chromosome 4, 1979529: 1979529
40 NSD2 NM_133330.2(NSD2): c.*620T> A single nucleotide variant Likely benign rs1132849 GRCh37 Chromosome 4, 1981256: 1981256
41 NSD2 NM_133330.2(NSD2): c.*661G> A single nucleotide variant Uncertain significance rs767998808 GRCh38 Chromosome 4, 1979570: 1979570
42 NSD2 NM_133330.2(NSD2): c.*661G> A single nucleotide variant Uncertain significance rs767998808 GRCh37 Chromosome 4, 1981297: 1981297
43 NSD2 NM_133330.2(NSD2): c.*745T> C single nucleotide variant Uncertain significance rs886059323 GRCh38 Chromosome 4, 1979654: 1979654
44 NSD2 NM_133330.2(NSD2): c.*745T> C single nucleotide variant Uncertain significance rs886059323 GRCh37 Chromosome 4, 1981381: 1981381
45 NSD2 NM_133330.2(NSD2): c.*969G> A single nucleotide variant Likely benign rs562124371 GRCh38 Chromosome 4, 1979878: 1979878
46 NSD2 NM_133330.2(NSD2): c.*969G> A single nucleotide variant Likely benign rs562124371 GRCh37 Chromosome 4, 1981605: 1981605
47 NSD2 NM_133330.2(NSD2): c.*986G> A single nucleotide variant Uncertain significance rs886059324 GRCh38 Chromosome 4, 1979895: 1979895
48 NSD2 NM_133330.2(NSD2): c.*986G> A single nucleotide variant Uncertain significance rs886059324 GRCh37 Chromosome 4, 1981622: 1981622
49 NSD2 NM_133330.2(NSD2): c.*1025C> A single nucleotide variant Likely benign rs548104599 GRCh38 Chromosome 4, 1979934: 1979934
50 NSD2 NM_133330.2(NSD2): c.*1025C> A single nucleotide variant Likely benign rs548104599 GRCh37 Chromosome 4, 1981661: 1981661

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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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