MCID: PRT131
MIFTS: 13

Partial Trisomy Distal 4q

Categories: Fetal diseases, Rare diseases, Genetic diseases

Aliases & Classifications for Partial Trisomy Distal 4q

MalaCards integrated aliases for Partial Trisomy Distal 4q:

Name: Partial Trisomy Distal 4q 12
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. An important gene associated with Partial Trisomy Distal 4q is HAND2 (Heart And Neural Crest Derivatives Expressed 2). Affiliated tissues include heart.

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 10.0

Symptoms & Phenotypes for Partial Trisomy Distal 4q

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

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

GO Terms for Partial Trisomy Distal 4q

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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