MCID: DST054
MIFTS: 6

Distal 17p13.3 Microdeletion Syndrome

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Distal 17p13.3 Microdeletion Syndrome

MalaCards integrated aliases for Distal 17p13.3 Microdeletion Syndrome:

Name: Distal 17p13.3 Microdeletion Syndrome 59
Distal Monosomy 17p13.3 59
Distal Del(17)(p13.3 ) 59

Characteristics:

Orphanet epidemiological data:

59
distal 17p13.3 microdeletion syndrome
Prevalence: <1/1000000 (Worldwide);

Classifications:



External Ids:

Orphanet 59 ORPHA261257
ICD10 via Orphanet 34 Q93.5

Summaries for Distal 17p13.3 Microdeletion Syndrome

MalaCards based summary : Distal 17p13.3 Microdeletion Syndrome, is also known as distal monosomy 17p13.3. An important gene associated with Distal 17p13.3 Microdeletion Syndrome is YWHAE (Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Epsilon).

Related Diseases for Distal 17p13.3 Microdeletion Syndrome

Symptoms & Phenotypes for Distal 17p13.3 Microdeletion Syndrome

Drugs & Therapeutics for Distal 17p13.3 Microdeletion Syndrome

Search Clinical Trials , NIH Clinical Center for Distal 17p13.3 Microdeletion Syndrome

Genetic Tests for Distal 17p13.3 Microdeletion Syndrome

Anatomical Context for Distal 17p13.3 Microdeletion Syndrome

Publications for Distal 17p13.3 Microdeletion Syndrome

Variations for Distal 17p13.3 Microdeletion Syndrome

Expression for Distal 17p13.3 Microdeletion Syndrome

Search GEO for disease gene expression data for Distal 17p13.3 Microdeletion Syndrome.

Pathways for Distal 17p13.3 Microdeletion Syndrome

GO Terms for Distal 17p13.3 Microdeletion Syndrome

Sources for Distal 17p13.3 Microdeletion 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
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44 MeSH
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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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