MCID: PRT131
MIFTS: 23

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 58
Dup Syndrome, Partial 12
Distal Duplication 4q 58
Distal 4q Trisomy 12
Distal Trisomy 4q 58
Trisomy 4qter 58

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0111159
ICD10 via Orphanet 33 Q92.3
Orphanet 58 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 heart septal defect and atrial heart septal defect. An important gene associated with Partial Trisomy Distal 4q is HAND2 (Heart And Neural Crest Derivatives Expressed 2). 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

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:

26 (show all 16)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.55 HAND2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.55 HAND2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-144 9.55 HAND2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.55 HAND2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-15 9.55 HAND2
6 Increased shRNA abundance (Z-score > 2) GR00366-A-170 9.55 TWIST2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-175 9.55 TWIST2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-197 9.55 HAND2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-20 9.55 TWIST2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-31 9.55 HAND2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.55 HAND2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-61 9.55 HAND2 TWIST2
13 Increased shRNA abundance (Z-score > 2) GR00366-A-69 9.55 TWIST2
14 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.55 TWIST2
15 Increased shRNA abundance (Z-score > 2) GR00366-A-86 9.55 HAND2
16 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.55 TWIST2

MGI Mouse Phenotypes related to Partial Trisomy Distal 4q:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.73 HAND2 KCNAB2 NIPBL RIMS4 TBX3 TWIST2
2 craniofacial MP:0005382 9.62 HAND2 NIPBL TBX3 TWIST2
3 hearing/vestibular/ear MP:0005377 9.46 HAND2 KCNAB2 NIPBL TWIST2
4 limbs/digits/tail MP:0005371 9.26 HAND2 NIPBL TBX3 TWIST2
5 normal MP:0002873 9.02 HAND2 KCNAB2 NIPBL TBX3 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:

40
Heart

Publications for Partial Trisomy Distal 4q

Articles related to Partial Trisomy Distal 4q:

# Title Authors PMID Year
1
De novo partial trisomy distal 4q: a case report. 61
25804022 2014
2
The Hand2 gene dosage effect in developmental defects and human congenital disorders. 61
25248475 2014
3
Overdosage of Hand2 causes limb and heart defects in the human chromosomal disorder partial trisomy distal 4q. 61
23449628 2013
4
A malformed newborn with 9p and 4q trisomy. 61
6971619 1981

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

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 chromatin GO:0000785 8.92 TWIST2 TBX3 NIPBL HAND2

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 9.83 TWIST2 TBX3 NIPBL HAND2
2 negative regulation of transcription, DNA-templated GO:0045892 9.71 TWIST2 TBX3 NIPBL
3 negative regulation of apoptotic process GO:0043066 9.69 TWIST2 TBX3 HAND2
4 multicellular organism development GO:0007275 9.62 TWIST2 TBX3 NIPBL HAND2
5 roof of mouth development GO:0060021 9.49 TBX3 HAND2
6 heart looping GO:0001947 9.48 TBX3 HAND2
7 negative regulation of osteoblast differentiation GO:0045668 9.46 TWIST2 HAND2
8 embryonic digit morphogenesis GO:0042733 9.43 TBX3 HAND2
9 stem cell population maintenance GO:0019827 9.4 TBX3 NIPBL
10 outflow tract morphogenesis GO:0003151 9.37 TBX3 NIPBL
11 developmental process GO:0032502 9.26 TWIST2 HAND2
12 embryonic forelimb morphogenesis GO:0035115 9.16 TBX3 NIPBL
13 forelimb morphogenesis GO:0035136 8.96 TBX3 NIPBL
14 heart morphogenesis GO:0003007 8.8 TBX3 NIPBL HAND2

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

# Name GO ID Score Top Affiliating Genes
1 ion channel binding GO:0044325 8.62 RIMS4 KCNAB2

Sources for Partial Trisomy Distal 4q

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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