MCID: DST054
MIFTS: 7

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 6
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

ClinVar genetic disease variations for Distal 17p13.3 Microdeletion Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 overlap with 41 genes GRCh37/hg19 17p13.3(chr17:84287-2468384)x1 copy number loss Pathogenic 981204 GRCh37: 17:84287-2468384
GRCh38:

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
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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