MCID: DLT013
MIFTS: 16

Deletion 5q35

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Deletion 5q35

MalaCards integrated aliases for Deletion 5q35:

Name: Deletion 5q35 60
Chromosome 5, Monosomy 5q35 74
Telomeric Deletion 5q 60
Distal 5q Deletion 60
Del (5)(qter) 60
Monosomy 5q35 60
Del (5)(q35) 60

Characteristics:

Orphanet epidemiological data:

60
deletion 5q35
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

Classifications:



External Ids:

ICD10 via Orphanet 35 Q93.5
Orphanet 60 ORPHA1627
UMLS 74 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 phenotypes are Decreased shRNA abundance and Decreased shRNA abundance

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 10.0

Symptoms & Phenotypes for Deletion 5q35

GenomeRNAi Phenotypes related to Deletion 5q35 according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance GR00251-A-1 9.23 NKX2-5 NSD1
2 Decreased shRNA abundance GR00251-A-2 9.23 NKX2-5 NSD1

MGI Mouse Phenotypes related to Deletion 5q35:

47
# 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
3
Brief clinical report on a deletion 5q35.3. ( 7778601 )
1995
4
Deletion 5q35.3. ( 8092192 )
1994

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 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 8.96 NKX2-5 NSD1
2 chromatin binding GO:0003682 8.62 NKX2-5 NSD1

Sources for Deletion 5q35

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
Content
Loading form....