MCID: 5Q3001
MIFTS: 15

5q35 Microduplication Syndrome

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for 5q35 Microduplication Syndrome

MalaCards integrated aliases for 5q35 Microduplication Syndrome:

Name: 5q35 Microduplication Syndrome 58 6
Trisomy 5q35 58
Dup(5)(q35) 58

Characteristics:

Orphanet epidemiological data:

58
5q35 microduplication syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


Summaries for 5q35 Microduplication Syndrome

MalaCards based summary : 5q35 Microduplication Syndrome, also known as trisomy 5q35, is related to chromosomal triplication. An important gene associated with 5q35 Microduplication Syndrome is NSD1 (Nuclear Receptor Binding SET Domain Protein 1). Related phenotypes are intellectual disability and microcephaly

Related Diseases for 5q35 Microduplication Syndrome

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

# Related Disease Score Top Affiliating Genes
1 chromosomal triplication 10.0

Symptoms & Phenotypes for 5q35 Microduplication Syndrome

Human phenotypes related to 5q35 Microduplication Syndrome:

58 31 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
3 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
4 specific learning disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001328
5 delayed skeletal maturation 58 31 frequent (33%) Frequent (79-30%) HP:0002750
6 behavioral abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0000708
7 myopia 58 31 frequent (33%) Frequent (79-30%) HP:0000545
8 seizure 31 occasional (7.5%) HP:0001250
9 seizures 58 Occasional (29-5%)
10 growth delay 58 Very frequent (99-80%)

Drugs & Therapeutics for 5q35 Microduplication Syndrome

Search Clinical Trials , NIH Clinical Center for 5q35 Microduplication Syndrome

Genetic Tests for 5q35 Microduplication Syndrome

Anatomical Context for 5q35 Microduplication Syndrome

Publications for 5q35 Microduplication Syndrome

Articles related to 5q35 Microduplication Syndrome:

# Title Authors PMID Year
1
A girl with partial trisomy 5q35-->qter and partial trisomy 13pter-->q31 derived via a maternal balanced translocation. 61
12029462 2002

Variations for 5q35 Microduplication Syndrome

ClinVar genetic disease variations for 5q35 Microduplication Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 overlap with 6 genes NC_000005.10:g.(177090796_177094455)_(177346090_177352856)dup Duplication Pathogenic 830214 GRCh37: 5:176517797-176779857
GRCh38:
2 overlap with 117 genes GRCh37/hg19 5q35.1-35.3(chr5:170805664-180719789)x3 copy number gain Pathogenic 981214 GRCh37: 5:170805664-180719789
GRCh38:

Expression for 5q35 Microduplication Syndrome

Search GEO for disease gene expression data for 5q35 Microduplication Syndrome.

Pathways for 5q35 Microduplication Syndrome

GO Terms for 5q35 Microduplication Syndrome

Sources for 5q35 Microduplication Syndrome

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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