MCID: 5Q3001
MIFTS: 13

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 59
Trisomy 5q35 59
Dup(5)(q35) 59

Characteristics:

Orphanet epidemiological data:

59
5q35 microduplication syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

Classifications:



Summaries for 5q35 Microduplication Syndrome

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

Related Diseases for 5q35 Microduplication Syndrome

Symptoms & Phenotypes for 5q35 Microduplication Syndrome

Human phenotypes related to 5q35 Microduplication Syndrome:

59 32 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000252
2 myopia 59 32 frequent (33%) Frequent (79-30%) HP:0000545
3 behavioral abnormality 59 32 frequent (33%) Frequent (79-30%) HP:0000708
4 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
5 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
6 specific learning disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001328
7 delayed skeletal maturation 59 32 frequent (33%) Frequent (79-30%) HP:0002750
8 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
9 growth delay 59 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

Variations for 5q35 Microduplication Syndrome

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 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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