MCID: DST054
MIFTS: 9

Distal 17p13.3 Microdeletion Syndrome

Categories: Fetal diseases, Rare diseases
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Aliases & Classifications for Distal 17p13.3 Microdeletion Syndrome

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

Name: Distal 17p13.3 Microdeletion Syndrome 58 28 5
Distal Monosomy 17p13.3 58
Distal Del(17)(p13.3 ) 58

Characteristics:


Prevelance:

<1/1000000 (Worldwide) 58

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 32 Q93.5
Orphanet 58 ORPHA261257

Summaries for Distal 17p13.3 Microdeletion Syndrome

Orphanet: 58 Distal 17p13.3 microdeletion syndrome is a rare partial monosomy of the short arm of chromosome 17 with a variable phenotype characterized by prenatal and postnatal growth retardation, developmental delay, mild intellectual disability, macrocephaly, mild facial dysmorphisms including prominent forehead, hypertelorism, thick upper and/or lower lip vermillion, and structural abnormalities of the brain variably including white matter abnormalities, prominent Virchow-Robin spaces, Chiari I malformation, corpus callosum hypoplasia, but no lissencephaly.

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). Affiliated tissues include brain.

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

Genetic tests related to Distal 17p13.3 Microdeletion Syndrome:

# Genetic test Affiliating Genes
1 Distal 17p13.3 Microdeletion Syndrome 28

Anatomical Context for Distal 17p13.3 Microdeletion Syndrome

Organs/tissues related to Distal 17p13.3 Microdeletion Syndrome:

MalaCards : Brain

Publications for Distal 17p13.3 Microdeletion Syndrome

Variations for Distal 17p13.3 Microdeletion Syndrome

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

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 overlap with 41 genes GRCh37/hg19 17p13.3(chr17:84287-2468384)x1 CN 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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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