MCID: PRT131
MIFTS: 25

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 60
Dup Syndrome, Partial 12
Distal Duplication 4q 60
Distal 4q Trisomy 12
Distal Trisomy 4q 60
Trisomy 4qter 60

Classifications:



External Ids:

Disease Ontology 12 DOID:0111159
ICD10 via Orphanet 35 Q92.3
Orphanet 60 ORPHA96096

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 chromosomal triplication and choanal atresia, posterior. An important gene associated with Partial Trisomy Distal 4q is HAND2 (Heart And Neural Crest Derivatives Expressed 2), and among its related pathways/superpathways is Proteoglycans in cancer. Affiliated tissues include heart, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

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 chromosomal triplication 10.2
2 choanal atresia, posterior 10.1
3 chromosome 4q duplication 10.1
4 ventricular septal defect 9.9 HAND2 TWIST1
5 saethre-chotzen syndrome 9.7 HAND2 TWIST1 TWIST2
6 thymoma 9.7 HRAS PPL

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

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

27 (show all 20)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.66 HAND2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.66 TWIST2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.66 HAND2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-118 9.66 HAND2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.66 TWIST2
6 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.66 HAND2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.66 HAND2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-170 9.66 TWIST2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.66 HAND2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-183 9.66 HRAS
11 Increased shRNA abundance (Z-score > 2) GR00366-A-196 9.66 HRAS
12 Increased shRNA abundance (Z-score > 2) GR00366-A-197 9.66 HAND2
13 Increased shRNA abundance (Z-score > 2) GR00366-A-31 9.66 HAND2
14 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.66 HAND2
15 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.66 HAND2 HRAS TWIST2
16 Increased shRNA abundance (Z-score > 2) GR00366-A-69 9.66 TWIST2
17 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.66 TWIST2
18 Increased shRNA abundance (Z-score > 2) GR00366-A-83 9.66 HRAS
19 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.66 HAND2
20 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.66 TWIST2

MGI Mouse Phenotypes related to Partial Trisomy Distal 4q:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.73 APPL1 HAND2 HRAS LGALS1 TWIST1 TWIST2
2 craniofacial MP:0005382 9.55 HAND2 HRAS LGALS1 TWIST1 TWIST2
3 growth/size/body region MP:0005378 9.5 APPL1 HAND2 HRAS LGALS1 RIMS4 TWIST1
4 muscle MP:0005369 9.02 APPL1 HAND2 LGALS1 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:

42
Heart

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 11.1 HRAS TWIST1 TWIST2

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 9.17 APPL1 HAND2 HRAS LGALS1 PPL TWIST1

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.65 HAND2 HRAS TWIST1
2 negative regulation of DNA-binding transcription factor activity GO:0043433 9.46 HAND2 TWIST1
3 roof of mouth development GO:0060021 9.43 HAND2 TWIST1
4 positive regulation of epithelial cell proliferation GO:0050679 9.4 HRAS TWIST1
5 embryonic digit morphogenesis GO:0042733 9.37 HAND2 TWIST1
6 positive regulation of transcription regulatory region DNA binding GO:2000679 9.32 HAND2 TWIST1
7 response to isolation stress GO:0035900 9.26 HRAS LGALS1
8 cardiac neural crest cell development involved in outflow tract morphogenesis GO:0061309 9.16 HAND2 TWIST1
9 cardiac neural crest cell migration involved in outflow tract morphogenesis GO:0003253 8.96 HAND2 TWIST1
10 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 E-box binding GO:0070888 8.96 HAND2 TWIST1
2 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 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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