Aliases & Classifications for Chromosome 4p Deletion

MalaCards integrated aliases for Chromosome 4p Deletion:

Name: Chromosome 4p Deletion 53
4p Partial Monosomy Syndrome 29 6
Chromosome 4 Short Arm Deletion 73
Wolf-Hirschhorn Syndrome 73
Partial Monosomy 4p 53
Monosomy 4p 53
4p Deletion 53
4p Monosomy 53
Deletion 4p 53

Classifications:



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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 4p partial monosomy syndrome, is related to wolf-hirschhorn syndrome and split hand-foot malformation, 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:

# Related Disease Score Top Affiliating Genes
1 wolf-hirschhorn syndrome 32.1 LETM1 NSD2 WFS1
2 split hand-foot malformation 10.0
3 chromosome 10p duplication 10.0
4 glaucoma 3, primary congenital, a 10.0
5 juvenile glaucoma 10.0
6 angelman syndrome 9.9
7 oligomeganephronia 9.9
8 chromosome 4p duplication 9.9
9 chromosomal deletion syndrome 9.8 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:

46
# 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 29 CPLX1 CTBP1 FGFRL1 LETM1 NSD2

Anatomical Context for Chromosome 4p Deletion

MalaCards organs/tissues related to Chromosome 4p Deletion:

41
Bone, Brain, Heart, Spleen, Lung, Testes, Eye

Publications for Chromosome 4p Deletion

Articles related to Chromosome 4p Deletion:

(show top 50) (show all 259)
# Title Authors Year
1
Growth trajectory and pubertal tempo from birth till final height in a girl with Wolf-Hirschhorn syndrome. ( 29675261 )
2018
2
Congenital cavitary optic disc anomaly and Axenfeld's anomaly in Wolf-Hirschhorn syndrome: A case report and review of the literature. ( 29199884 )
2018
3
A survey of antiepileptic drug responses identifies drugs with potential efficacy for seizure control in Wolf-Hirschhorn syndrome. ( 29477837 )
2018
4
Dissecting the Wolf-Hirschhorn syndrome phenotype: WHSC1 is a neurodevelopmental gene contributing to growth delay, intellectual disability, and to the facial dysmorphism. ( 29884796 )
2018
5
Prenatal diagnosis of Wolf-Hirschhorn syndrome: from ultrasound findings, diagnostic technology to genetic counseling. ( 29808250 )
2018
6
Prenatal diagnosis of Wolf-Hirschhorn syndrome at the first trimester using chromosomal microarray analysis. ( 29635948 )
2018
7
Oligonephronia and Wolf-Hirschhorn syndrome: A further observation. ( 29193639 )
2018
8
Cytogenomic Integrative Network Analysis of the Critical Region Associated with Wolf-Hirschhorn Syndrome. ( 29721507 )
2018
9
Prenatal diagnosis of Wolf-Hirschhorn syndrome: Ultrasonography and molecular karyotyping results. ( 29626710 )
2018
10
Risk of hepatic neoplasms in Wolf-Hirschhorn syndrome (4p-): Four new cases and review of the literature. ( 30289612 )
2018
11
Natural histories of patients with Wolf-Hirschhorn syndrome derived from variable chromosomal abnormalities. ( 30378700 )
2018
12
Single port laparoscopic splenectomy for wandering spleen with splenomegaly in a patient with Wolf-Hirschhorn syndrome. ( 28281478 )
2017
13
Treatment of intractable seizure in Wolf-Hirschhorn syndrome with bromide. ( 28377151 )
2017
14
A structured assessment of motor function, behavior, and communication in patients with Wolf-Hirschhorn syndrome. ( 28818479 )
2017
15
[Wolf-Hirschhorn syndrome: just a citation omission?] ( 28849869 )
2017
16
Anesthetic considerations for a pediatric patient with Wolf-Hirschhorn syndrome: a case report. ( 29090255 )
2017
17
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
18
Hepatoblastoma and Wolf-Hirschhorn syndrome: Coincidence or a new feature of a rare disease? ( 28786167 )
2017
19
Diabetes Mellitus Secondary to Acute Pancreatitis in a Child with Wolf-Hirschhorn Syndrome. ( 29204299 )
2017
20
Wolf-Hirschhorn Syndrome Candidate 1 (whsc1) Functions as a Tumor Suppressor by Governing Cell Differentiation. ( 28654864 )
2017
21
Hepatic Malignancy in an Infant with Wolf-Hirschhorn Syndrome. ( 28266898 )
2017
22
A case for cannabidiol in Wolf-Hirschhorn syndrome seizure management. ( 28102593 )
2017
23
Wolf-Hirschhorn Syndrome Candidate 1 Is Necessary for Correct Hematopoietic and B Cell Development. ( 28538178 )
2017
24
Wolf-Hirschhorn Syndrome: Clinical and Genetic Data from a First Case Diagnosed in Central Africa. ( 28794913 )
2017
25
Neuroblastoma in a Child With Wolf-Hirschhorn Syndrome. ( 28085742 )
2017
26
Wolf-Hirschhorn syndrome candidate 1-like 1 epigenetically regulates nephrin gene expression. ( 28228401 )
2017
27
Early Postnatal Seizures in a Neonate with Wolf-Hirschhorn Syndrome. ( 27994945 )
2016
28
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
29
Exploring the developmental mechanisms underlying Wolf-Hirschhorn Syndrome: Evidence for defects in neural crest cell migration. ( 27777068 )
2016
30
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
31
Chromosomal microarray testing identifies a 4p terminal region associated with seizures in Wolf-Hirschhorn syndrome. ( 26747863 )
2016
32
Airway Management in a Patient with Wolf-Hirschhorn Syndrome. ( 27752382 )
2016
33
EP10.23: Application of 3D ultrasonography in analysis of fetal anomalies in Wolf-Hirschhorn syndrome. ( 27645370 )
2016
34
Wolf-Hirschhorn Syndrome with Epibulbar Dermoid: An Unusual Association in a Patient with 4p Deletion and Functional Xp Disomy. ( 27842301 )
2016
35
Single port laparoscopic splenectomy for wandering spleen with splenomegaly in a patient with Wolf-Hirschhorn syndrome. ( 28000649 )
2016
36
Excellent response to levetiracetam in epilepsy with Wolf-Hirschhorn syndrome. ( 26590026 )
2016
37
Successful treatment of migrating partial seizures in Wolf-Hirschhorn syndrome with bromide. ( 26797656 )
2016
38
Auditory hair cell defects as potential cause for sensorineural deafness in Wolf-Hirschhorn syndrome. ( 26092122 )
2015
39
Atypical Varicella in a Patient With Wolf-Hirschhorn Syndrome. ( 25673626 )
2015
40
Uncommon oral cleft in wolf-hirschhorn syndrome. ( 25831115 )
2015
41
Severe short stature and Wolf-Hirschhorn syndrome: response to growth hormone in two cases without growth hormone deficiency. ( 25988083 )
2015
42
Wolf-Hirschhorn syndrome: A review and update. ( 26239400 )
2015
43
A case of 14q11.2 microdeletion with autistic features, severe obesity and facial dysmorphisms suggestive of Wolf-Hirschhorn syndrome. ( 24243641 )
2014
44
Affinity for music in Wolf-Hirschhorn syndrome: two case reports. ( 25266617 )
2014
45
Wolf-Hirschhorn syndrome: a case with normal karyotype, demonstrated by array CGH (aCGH). ( 25204484 )
2014
46
Clinical features in adult patient with Wolf-Hirschhorn syndrome. ( 24656633 )
2014
47
Wolf-Hirschhorn syndrome (WHS) - literature review on the features of the syndrome. ( 24979523 )
2014
48
A rare subtelomeric deletion syndrome: Wolf Hirschhorn syndrome. ( 25365852 )
2014
49
Wolf-Hirschhorn syndrome: a case study and disease overview. ( 25137600 )
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 230)
# 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 GRCh37 Chromosome 4, 1901033: 1901033
6 NSD2 NM_133330.2(NSD2): c.-119G> A single nucleotide variant Likely benign rs550551908 GRCh38 Chromosome 4, 1899306: 1899306
7 NSD2 NM_133330.2(NSD2): c.-59A> G single nucleotide variant Likely benign rs147609440 GRCh37 Chromosome 4, 1901093: 1901093
8 NSD2 NM_133330.2(NSD2): c.-59A> G single nucleotide variant Likely benign rs147609440 GRCh38 Chromosome 4, 1899366: 1899366
9 NSD2 NM_133330.2(NSD2): c.-43G> A single nucleotide variant Likely benign rs116056077 GRCh37 Chromosome 4, 1901109: 1901109
10 NSD2 NM_133330.2(NSD2): c.-43G> A single nucleotide variant Likely benign rs116056077 GRCh38 Chromosome 4, 1899382: 1899382
11 NSD2 NM_133330.2(NSD2): c.114C> T (p.Cys38=) single nucleotide variant Uncertain significance rs759922625 GRCh37 Chromosome 4, 1902495: 1902495
12 NSD2 NM_133330.2(NSD2): c.114C> T (p.Cys38=) single nucleotide variant Uncertain significance rs759922625 GRCh38 Chromosome 4, 1900768: 1900768
13 NSD2 NM_133330.2(NSD2): c.198C> T (p.Asn66=) single nucleotide variant Likely benign rs140040537 GRCh37 Chromosome 4, 1902579: 1902579
14 NSD2 NM_133330.2(NSD2): c.198C> T (p.Asn66=) single nucleotide variant Likely benign rs140040537 GRCh38 Chromosome 4, 1900852: 1900852
15 NSD2 NM_133330.2(NSD2): c.199G> A (p.Gly67Ser) single nucleotide variant Uncertain significance rs202235551 GRCh37 Chromosome 4, 1902580: 1902580
16 NSD2 NM_133330.2(NSD2): c.199G> A (p.Gly67Ser) single nucleotide variant Uncertain significance rs202235551 GRCh38 Chromosome 4, 1900853: 1900853
17 NSD2 NM_133330.2(NSD2): c.456T> G (p.Ser152=) single nucleotide variant Uncertain significance rs886059314 GRCh37 Chromosome 4, 1902837: 1902837
18 NSD2 NM_133330.2(NSD2): c.456T> G (p.Ser152=) single nucleotide variant Uncertain significance rs886059314 GRCh38 Chromosome 4, 1901110: 1901110
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 rs886059321 GRCh37 Chromosome 4, 1980978: 1980980
36 NSD2 NM_133330.2(NSD2): c.*342_*344delCTC deletion Likely benign rs886059321 GRCh38 Chromosome 4, 1979251: 1979253
37 NSD2 NM_133330.2(NSD2): c.*593G> T single nucleotide variant Likely benign rs73202837 GRCh37 Chromosome 4, 1981229: 1981229
38 NSD2 NM_133330.2(NSD2): c.*593G> T single nucleotide variant Likely benign rs73202837 GRCh38 Chromosome 4, 1979502: 1979502
39 NSD2 NM_133330.2(NSD2): c.*620T> A single nucleotide variant Likely benign rs1132849 GRCh37 Chromosome 4, 1981256: 1981256
40 NSD2 NM_133330.2(NSD2): c.*620T> A single nucleotide variant Likely benign rs1132849 GRCh38 Chromosome 4, 1979529: 1979529
41 NSD2 NM_133330.2(NSD2): c.*661G> A single nucleotide variant Uncertain significance rs767998808 GRCh37 Chromosome 4, 1981297: 1981297
42 NSD2 NM_133330.2(NSD2): c.*661G> A single nucleotide variant Uncertain significance rs767998808 GRCh38 Chromosome 4, 1979570: 1979570
43 NSD2 NM_133330.2(NSD2): c.*745T> C single nucleotide variant Uncertain significance rs886059323 GRCh37 Chromosome 4, 1981381: 1981381
44 NSD2 NM_133330.2(NSD2): c.*745T> C single nucleotide variant Uncertain significance rs886059323 GRCh38 Chromosome 4, 1979654: 1979654
45 NSD2 NM_133330.2(NSD2): c.*969G> A single nucleotide variant Likely benign rs562124371 GRCh37 Chromosome 4, 1981605: 1981605
46 NSD2 NM_133330.2(NSD2): c.*969G> A single nucleotide variant Likely benign rs562124371 GRCh38 Chromosome 4, 1979878: 1979878
47 NSD2 NM_133330.2(NSD2): c.*986G> A single nucleotide variant Uncertain significance rs886059324 GRCh37 Chromosome 4, 1981622: 1981622
48 NSD2 NM_133330.2(NSD2): c.*986G> A single nucleotide variant Uncertain significance rs886059324 GRCh38 Chromosome 4, 1979895: 1979895
49 NSD2 NM_133330.2(NSD2): c.*1025C> A single nucleotide variant Likely benign rs548104599 GRCh37 Chromosome 4, 1981661: 1981661
50 NSD2 NM_133330.2(NSD2): c.*1025C> A single nucleotide variant Likely benign rs548104599 GRCh38 Chromosome 4, 1979934: 1979934

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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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