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 58
Distal Monosomy 17p13.3 58
Distal Del(17)(p13.3 ) 58

Characteristics:

Orphanet epidemiological data:

58
distal 17p13.3 microdeletion syndrome
Prevalence: <1/1000000 (Worldwide);

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q93.5
Orphanet 58 ORPHA261257

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 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
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43 MeSH
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48 NCI
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53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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