MCID: DLT013
MIFTS: 15

Deletion 5q35

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Deletion 5q35

MalaCards integrated aliases for Deletion 5q35:

Name: Deletion 5q35 59
Chromosome 5, Monosomy 5q35 73
Telomeric Deletion 5q 59
Distal 5q Deletion 59
Del (5)(qter) 59
Monosomy 5q35 59
Del (5)(q35) 59

Characteristics:

Orphanet epidemiological data:

59
deletion 5q35
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

Classifications:



External Ids:

Orphanet 59 ORPHA1627
ICD10 via Orphanet 34 Q93.5
UMLS 73 C2931574

Summaries for Deletion 5q35

MalaCards based summary : Deletion 5q35, also known as chromosome 5, monosomy 5q35, is related to parietal foramina. An important gene associated with Deletion 5q35 is NSD1 (Nuclear Receptor Binding SET Domain Protein 1). Related phenotype is no phenotypic analysis.

Related Diseases for Deletion 5q35

Diseases related to Deletion 5q35 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 parietal foramina 9.8

Symptoms & Phenotypes for Deletion 5q35

MGI Mouse Phenotypes related to Deletion 5q35:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 no phenotypic analysis MP:0003012 8.62 NKX2-5 NSD1

Drugs & Therapeutics for Deletion 5q35

Search Clinical Trials , NIH Clinical Center for Deletion 5q35

Genetic Tests for Deletion 5q35

Anatomical Context for Deletion 5q35

Publications for Deletion 5q35

Articles related to Deletion 5q35:

# Title Authors Year
1
Microarray delineation of familial chromosomal imbalance with deletion 5q35 and duplication 10q25 in a child showing multiple anomalies and dysmorphism. ( 24478242 )
2014
2
Distal 5q deletion with associated parietal foramina. ( 19952731 )
2010

Variations for Deletion 5q35

Expression for Deletion 5q35

Search GEO for disease gene expression data for Deletion 5q35.

Pathways for Deletion 5q35

GO Terms for Deletion 5q35

Biological processes related to Deletion 5q35 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 8.96 NKX2-5 NSD1
2 positive regulation of transcription, DNA-templated GO:0045893 8.62 NKX2-5 NSD1

Molecular functions related to Deletion 5q35 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin binding GO:0003682 8.96 NKX2-5 NSD1
2 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 8.62 NKX2-5 NSD1

Sources for Deletion 5q35

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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