MCID: PRT131
MIFTS: 30

Partial Trisomy Distal 4q

Categories: Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Partial Trisomy Distal 4q

MalaCards integrated aliases for Partial Trisomy Distal 4q:

Name: Partial Trisomy Distal 4q 12 15
Chromosome 4, Partial Trisomy 4q 12
Duplication 4q Syndrome, Partial 12
Partial Trisomy 4q Syndrome 12
Telomeric Duplication 4q 59
Dup Syndrome, Partial 12
Distal Duplication 4q 59
Distal 4q Trisomy 12
Distal Trisomy 4q 59
Trisomy 4qter 59

Classifications:



External Ids:

Disease Ontology 12 DOID:0111159
Orphanet 59 ORPHA96096
ICD10 via Orphanet 34 Q92.3

Summaries for Partial Trisomy Distal 4q

Disease Ontology : 12 A chromosomal duplication syndrome characterized by growth deficiency, abnormal muscle tone, intellectual disability, and distinctive craniofacial malformations that has material basis in duplication of the distal portion of chromosome 4q.

MalaCards based summary : Partial Trisomy Distal 4q, also known as chromosome 4, partial trisomy 4q, is related to choanal atresia, posterior and chromosomal triplication. An important gene associated with Partial Trisomy Distal 4q is HAND2 (Heart And Neural Crest Derivatives Expressed 2), and among its related pathways/superpathways are Proteoglycans in cancer and Aryl Hydrocarbon Receptor. Affiliated tissues include heart, colon and ovary, and related phenotypes are behavior/neurological and cardiovascular system

Related Diseases for Partial Trisomy Distal 4q

Diseases related to Partial Trisomy Distal 4q via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 choanal atresia, posterior 10.1
2 chromosomal triplication 10.1
3 chromosome 4q duplication 10.1
4 saethre-chotzen syndrome 9.9 HAND2 TWIST1 TWIST2
5 ventricular septal defect 9.9 HAND2 TWIST1
6 malignant ovarian surface epithelial-stromal neoplasm 9.8 ESR1 HRAS
7 ovary epithelial cancer 9.8 ESR1 HRAS
8 colonic disease 9.7 ESR1 HRAS

Graphical network of the top 20 diseases related to Partial Trisomy Distal 4q:



Diseases related to Partial Trisomy Distal 4q

Symptoms & Phenotypes for Partial Trisomy Distal 4q

MGI Mouse Phenotypes related to Partial Trisomy Distal 4q:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.02 APPL1 ESR1 HAND2 HRAS LGALS1 TWIST1
2 cardiovascular system MP:0005385 9.93 APPL1 ESR1 HAND2 HRAS TWIST1 TWIST2
3 growth/size/body region MP:0005378 9.91 APPL1 ESR1 HAND2 HRAS LGALS1 TWIST1
4 craniofacial MP:0005382 9.83 HAND2 HRAS LGALS1 TWIST1 TWIST2
5 digestive/alimentary MP:0005381 9.8 ESR1 HAND2 HRAS TWIST1 TWIST2
6 mortality/aging MP:0010768 9.8 APPL1 ESR1 HAND2 HRAS LGALS1 TWIST1
7 muscle MP:0005369 9.63 APPL1 ESR1 HAND2 LGALS1 TWIST1 TWIST2
8 limbs/digits/tail MP:0005371 9.62 ESR1 HAND2 TWIST1 TWIST2
9 normal MP:0002873 9.35 ESR1 HAND2 HRAS PPL TWIST2
10 skeleton MP:0005390 9.02 ESR1 HAND2 HRAS TWIST1 TWIST2

Drugs & Therapeutics for Partial Trisomy Distal 4q

Search Clinical Trials , NIH Clinical Center for Partial Trisomy Distal 4q

Genetic Tests for Partial Trisomy Distal 4q

Anatomical Context for Partial Trisomy Distal 4q

MalaCards organs/tissues related to Partial Trisomy Distal 4q:

41
Heart, Colon, Ovary

Publications for Partial Trisomy Distal 4q

Articles related to Partial Trisomy Distal 4q:

# Title Authors Year
1
De novo partial trisomy distal 4q: a case report. ( 25804022 )
2014
2
Overdosage of Hand2 causes limb and heart defects in the human chromosomal disorder partial trisomy distal 4q. ( 23449628 )
2013

Variations for Partial Trisomy Distal 4q

Expression for Partial Trisomy Distal 4q

Search GEO for disease gene expression data for Partial Trisomy Distal 4q.

Pathways for Partial Trisomy Distal 4q

Pathways related to Partial Trisomy Distal 4q according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.23 ESR1 HRAS TWIST1 TWIST2
2 10.84 ESR1 HRAS
3 10.32 ESR1 HRAS

GO Terms for Partial Trisomy Distal 4q

Cellular components related to Partial Trisomy Distal 4q according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.23 APPL1 ESR1 HAND2 HRAS LGALS1 PPL

Biological processes related to Partial Trisomy Distal 4q according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.81 ESR1 HAND2 HRAS TWIST1
2 positive regulation of gene expression GO:0010628 9.7 HAND2 HRAS TWIST1
3 negative regulation of gene expression GO:0010629 9.61 ESR1 HAND2 HRAS
4 roof of mouth development GO:0060021 9.49 HAND2 TWIST1
5 positive regulation of epithelial cell proliferation GO:0050679 9.48 HRAS TWIST1
6 embryonic digit morphogenesis GO:0042733 9.46 HAND2 TWIST1
7 negative regulation of DNA-binding transcription factor activity GO:0043433 9.43 ESR1 HAND2 TWIST1
8 positive regulation of transcription regulatory region DNA binding GO:2000679 9.4 HAND2 TWIST1
9 positive regulation of phospholipase C activity GO:0010863 9.37 ESR1 HRAS
10 response to isolation stress GO:0035900 9.32 HRAS LGALS1
11 cardiac neural crest cell development involved in outflow tract morphogenesis GO:0061309 9.16 HAND2 TWIST1
12 cardiac neural crest cell migration involved in outflow tract morphogenesis GO:0003253 8.96 HAND2 TWIST1
13 negative regulation of osteoblast differentiation GO:0045668 8.8 HAND2 TWIST1 TWIST2

Molecular functions related to Partial Trisomy Distal 4q according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transcription factor binding GO:0008134 9.33 ESR1 HAND2 TWIST1
2 E-box binding GO:0070888 8.96 HAND2 TWIST1
3 protein dimerization activity GO:0046983 8.8 HAND2 TWIST1 TWIST2

Sources for Partial Trisomy Distal 4q

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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