MCID: 17Q010
MIFTS: 16

17q12 Deletion Syndrome

Categories: Rare diseases

Aliases & Classifications for 17q12 Deletion Syndrome

MalaCards integrated aliases for 17q12 Deletion Syndrome:

Name: 17q12 Deletion Syndrome 54 26
Chromosome 17q12 Deletion Syndrome 54 74
17q12 Recurrent Deletion Syndrome 54 26
Recurrent Genomic Rearrangement in Chromosome 17q12 26
17q12 Chromosomal Microdeletion 26
17q12 Microdeletion Syndrome 54
17q12 Microdeletion 26
Monosomy 17q12 54
Deletion 17q12 26
Del(17)(q12) 54

Classifications:



External Ids:

UMLS 74 C3281138

Summaries for 17q12 Deletion Syndrome

NIH Rare Diseases : 54 17q12 deletionsyndrome is a chromosome abnormality in which there is a small missing piece (deletion) of genetic material on the long arm (q) of chromosome 17. Signs and symptoms can vary widely among people with this syndrome. More common signs and symptoms include abnormalities of the kidneys or urinary tract, a form of diabetes called maturity-onset diabetes of the young type 5 (MODY5), and mildly distinctive facial features. Other signs and symptoms may include developmental delay, intellectual disability, and behavioral or psychiatric disorders. Some people with 17q12 deletion syndrome have seizures, and/or abnormalities of the eyes, liver, brain, genitalia, or other body systems. 17q12 deletion syndrome is inherited in an autosomal dominant manner; however, in most people with this syndrome, the deletion is not inherited from a parent and occurs sporadically. Less commonly, a person with 17q12 deletion syndrome inherits the deletion from a parent. Children of a person with the deletion have a 50% chance of inheriting the deletion. Treatment depends on the specific signs and symptoms in each person. Even in the absence of structural abnormalities of the kidneys, they should continue to be monitored for problems that may arise. 

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 brain, kidney and liver.

Genetics Home Reference : 26 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 12.5
2 chromosome 17q12 deletion syndrome 12.4
3 diaphragmatic hernia, congenital 10.3
4 duodenal atresia 10.1
5 hydronephrosis 10.1
6 kidney disease 10.1
7 renal cysts and diabetes syndrome 10.0
8 diabetes mellitus 10.0

Graphical network of the top 20 diseases related to 17q12 Deletion Syndrome:



Diseases related to 17q12 Deletion Syndrome

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:

42
Brain, Kidney, Liver, Eye

Publications for 17q12 Deletion Syndrome

Articles related to 17q12 Deletion Syndrome:

# Title Authors Year
1
17q12 Deletion Syndrome as a Rare Cause for Diabetes Mellitus Type MODY5. ( 30032214 )
2018
2
17q12 Recurrent Deletion Syndrome ( 27929632 )
1993

Variations for 17q12 Deletion Syndrome

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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....