MCID: 17Q010
MIFTS: 12

17q12 Deletion Syndrome

Categories: Rare diseases

Aliases & Classifications for 17q12 Deletion Syndrome

MalaCards integrated aliases for 17q12 Deletion Syndrome:

Name: 17q12 Deletion Syndrome 49 24
Chromosome 17q12 Deletion Syndrome 49 69
17q12 Recurrent Deletion Syndrome 49 24
Recurrent Genomic Rearrangement in Chromosome 17q12 24
17q12 Chromosomal Microdeletion 24
17q12 Microdeletion Syndrome 49
17q12 Microdeletion 24
Monosomy 17q12 49
Deletion 17q12 24
Del(17)(q12) 49

Classifications:



External Ids:

UMLS 69 C3281138

Summaries for 17q12 Deletion Syndrome

NIH Rare Diseases : 49 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 261265Disease definition17q12 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 17 characterized by renal cystic disease, maturity onset diabetes of the young type 5, and neurodevelopmental disorders, such as cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. Mullerian aplasia in females, macrocephaly, mild facial dysmorphism (high forehead, deep set eyes and chubby cheeks) and transcient hypercalcaemia have also been reported.Visit the Orphanet disease page for more resources. Last updated: 3/29/2017

MalaCards based summary : 17q12 Deletion Syndrome, also known as chromosome 17q12 deletion syndrome, is related to 17q12 recurrent deletion syndrome and chromosome 17q12 deletion syndrome. An important gene associated with 17q12 Deletion Syndrome is DEL17Q12 (Chromosome 17q12 Deletion Syndrome). Affiliated tissues include eye.

Genetics Home Reference : 24 17q12 deletion syndrome is a condition that results from the deletion of a small piece of chromosome 17 in each cell. The deletion occurs on the long (q) arm of the chromosome at a position designated q12.

Related Diseases for 17q12 Deletion Syndrome

Diseases in the 17q12 Deletion Syndrome family:

17q12 Recurrent Deletion Syndrome

Diseases related to 17q12 Deletion Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 17q12 recurrent deletion syndrome 12.3
2 chromosome 17q12 deletion syndrome 12.2

Symptoms & Phenotypes for 17q12 Deletion Syndrome

Drugs & Therapeutics for 17q12 Deletion Syndrome

Search Clinical Trials , NIH Clinical Center for 17q12 Deletion Syndrome

Genetic Tests for 17q12 Deletion Syndrome

Anatomical Context for 17q12 Deletion Syndrome

MalaCards organs/tissues related to 17q12 Deletion Syndrome:

38
Eye

Publications for 17q12 Deletion Syndrome

Articles related to 17q12 Deletion Syndrome:

# Title Authors Year
1
17q12 Recurrent Deletion Syndrome ( 27929632 )
1993

Variations for 17q12 Deletion Syndrome

ClinVar genetic disease variations for 17q12 Deletion Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 subset of 28 genes:HNF1B NC_000017.10 deletion Pathogenic GRCh37 Chromosome 17, 34360227: 36473024
2 subset of 15 genes:HNF1B NC_000017.10: g.(?_34815072)_(36192492_?)del deletion Pathogenic GRCh37 Chromosome 17, 34815072: 36192492

Expression for 17q12 Deletion Syndrome

Search GEO for disease gene expression data for 17q12 Deletion Syndrome.

Pathways for 17q12 Deletion Syndrome

GO Terms for 17q12 Deletion Syndrome

Sources for 17q12 Deletion 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
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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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