MCID: 14Q003
MIFTS: 6

14q11.2 Microduplication Syndrome

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for 14q11.2 Microduplication Syndrome

MalaCards integrated aliases for 14q11.2 Microduplication Syndrome:

Name: 14q11.2 Microduplication Syndrome 55
Trisomy 14q11.2 55
Dup(14)(q11.2) 55

Characteristics:

Orphanet epidemiological data:

55
14q11.2 microduplication syndrome
Prevalence: <1/1000000 (Worldwide);

Classifications:



External Ids:

Orphanet 55 ORPHA261229
ICD10 via Orphanet 33 Q92.3

Summaries for 14q11.2 Microduplication Syndrome

MalaCards based summary : 14q11.2 Microduplication Syndrome, is also known as trisomy 14q11.2. An important gene associated with 14q11.2 Microduplication Syndrome is FOXG1 (Forkhead Box G1).

Related Diseases for 14q11.2 Microduplication Syndrome

Symptoms & Phenotypes for 14q11.2 Microduplication Syndrome

Drugs & Therapeutics for 14q11.2 Microduplication Syndrome

Search Clinical Trials , NIH Clinical Center for 14q11.2 Microduplication Syndrome

Genetic Tests for 14q11.2 Microduplication Syndrome

Anatomical Context for 14q11.2 Microduplication Syndrome

Publications for 14q11.2 Microduplication Syndrome

Variations for 14q11.2 Microduplication Syndrome

Expression for 14q11.2 Microduplication Syndrome

Search GEO for disease gene expression data for 14q11.2 Microduplication Syndrome.

Pathways for 14q11.2 Microduplication Syndrome

GO Terms for 14q11.2 Microduplication Syndrome

Sources for 14q11.2 Microduplication Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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