MCID: DLT013
MIFTS: 14

Deletion 5q35

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Deletion 5q35

MalaCards integrated aliases for Deletion 5q35:

Name: Deletion 5q35 58
Chromosome 5, Monosomy 5q35 70
Telomeric Deletion 5q 58
Distal 5q Deletion 58
Del (5)(qter) 58
Monosomy 5q35 58
Del (5)(q35) 58

Characteristics:

Orphanet epidemiological data:

58
deletion 5q35
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q93.5
Orphanet 58 ORPHA1627
UMLS 70 C2931574

Summaries for Deletion 5q35

MalaCards based summary : Deletion 5q35, also known as chromosome 5, monosomy 5q35, is related to cornelia de lange syndrome 1 and optic nerve hypoplasia, bilateral. An important gene associated with Deletion 5q35 is NKX2-5 (NK2 Homeobox 5). 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:

(show all 16)
# Related Disease Score Top Affiliating Genes
1 cornelia de lange syndrome 1 10.0
2 optic nerve hypoplasia, bilateral 10.0
3 parietal foramina 10.0
4 hereditary lymphedema i 10.0
5 microcephaly 10.0
6 cornelia de lange syndrome 10.0
7 cleft lip 10.0
8 chiari malformation 10.0
9 seizure disorder 10.0
10 cleft lip/palate 10.0
11 partial deletion of chromosome 5 10.0
12 cleft palate, isolated 9.9
13 hypotonia 9.9
14 patent ductus arteriosus 1 9.6 NSD1 NKX2-5
15 wolf-hirschhorn syndrome 9.6 NSD1 NKX2-5
16 patent foramen ovale 9.5 NSD1 NKX2-5

Graphical network of the top 20 diseases related to Deletion 5q35:



Diseases related to Deletion 5q35

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 PMID Year
1
Microarray delineation of familial chromosomal imbalance with deletion 5q35 and duplication 10q25 in a child showing multiple anomalies and dysmorphism. 61
24478242 2014

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 NSD1 NKX2-5
2 positive regulation of transcription, DNA-templated GO:0045893 8.62 NSD1 NKX2-5

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 NSD1 NKX2-5
2 chromatin binding GO:0003682 8.62 NSD1 NKX2-5

Sources for Deletion 5q35

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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