MCID: 17Q009
MIFTS: 12

17q12 Recurrent Deletion Syndrome

Categories: Rare diseases

Aliases & Classifications for 17q12 Recurrent Deletion Syndrome

MalaCards integrated aliases for 17q12 Recurrent Deletion Syndrome:

Name: 17q12 Recurrent Deletion Syndrome 24

Characteristics:

GeneReviews:

24
Penetrance Penetrance of the 17q12 recurrent deletion is high, but expressivity is variable....

Classifications:



Summaries for 17q12 Recurrent Deletion Syndrome

MalaCards based summary : 17q12 Recurrent Deletion Syndrome is related to 17q12 deletion syndrome and renal cysts and diabetes syndrome. An important gene associated with 17q12 Recurrent Deletion Syndrome is HNF1B (HNF1 Homeobox B). Affiliated tissues include kidney, pancreas and liver.

GeneReviews: NBK401562

Related Diseases for 17q12 Recurrent Deletion Syndrome

Diseases in the 17q12 Deletion Syndrome family:

17q12 Recurrent Deletion Syndrome

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

# Related Disease Score Top Affiliating Genes
1 17q12 deletion syndrome 11.7
2 renal cysts and diabetes syndrome 10.0
3 maturity-onset diabetes of the young 10.0
4 major affective disorder 8 10.0
5 major affective disorder 9 10.0
6 chromosome 17q12 deletion syndrome 10.0
7 alacrima, achalasia, and mental retardation syndrome 10.0
8 autism spectrum disorder 10.0
9 bipolar disorder 10.0
10 learning disability 10.0

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



Diseases related to 17q12 Recurrent Deletion Syndrome

Symptoms & Phenotypes for 17q12 Recurrent Deletion Syndrome

Drugs & Therapeutics for 17q12 Recurrent Deletion Syndrome

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

Genetic Tests for 17q12 Recurrent Deletion Syndrome

Anatomical Context for 17q12 Recurrent Deletion Syndrome

MalaCards organs/tissues related to 17q12 Recurrent Deletion Syndrome:

41
Kidney, Pancreas, Liver, Testes

Publications for 17q12 Recurrent Deletion Syndrome

Articles related to 17q12 Recurrent Deletion Syndrome:

(show top 50) (show all 61)
# Title Authors PMID Year
1
17q12 deletion and duplication syndrome in Denmark-A clinical cohort of 38 patients and review of the literature. 4
27409573 2016
2
Chromosome 17q12 microdeletions but not intragenic HNF1B mutations link developmental kidney disease and psychiatric disorder. 4
27234567 2016
3
HNF1B-associated clinical phenotypes: the kidney and beyond. 4
26160100 2016
4
Hepatocyte Nuclear Factor 1β-Associated Kidney Disease: More than Renal Cysts and Diabetes. 4
26319241 2016
5
Should we offer prenatal testing for 17q12 microdeletion syndrome to all cases with prenatally diagnosed echogenic kidneys? Prenatal findings in two families with 17q12 microdeletion syndrome and review of the literature. 4
26429400 2015
6
Copy number variation analysis identifies novel CAKUT candidate genes in children with a solitary functioning kidney. 4
26352300 2015
7
Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management--A KDIGO consensus report. 4
25738250 2015
8
Criteria for HNF1B analysis in patients with congenital abnormalities of kidney and urinary tract. 4
25500806 2015
9
Genomic imbalances in pediatric patients with chronic kidney disease. 4
25893603 2015
10
Towards a new point of view on the phenotype of patients with a 17q12 microdeletion syndrome. 4
25324567 2015
11
Copy-number variation associated with congenital anomalies of the kidney and urinary tract. 4
25270717 2015
12
HNF1B-associated renal and extra-renal disease-an expanding clinical spectrum. 4
25536396 2015
13
Hypomagnesemia as First Clinical Manifestation of ADTKD-HNF1B: A Case Series and Literature Review. 4
26340261 2015
14
Congenital diaphragmatic hernia may be associated with 17q12 microdeletion syndrome. 4
25425496 2015
15
Duodenal atresia in 17q12 microdeletion including HNF1B: a new associated malformation in this syndrome. 4
25256560 2014
16
Chronic renal failure of unknown origin is caused by HNF1B mutations in 9% of adult patients: a single centre cohort analysis. 4
24387224 2014
17
Variable phenotype in 17q12 microdeletions: clinical and molecular characterization of a new case. 4
24487052 2014
18
Clinical report of a 17q12 microdeletion with additionally unreported clinical features. 4
24991439 2014
19
CNVs conferring risk of autism or schizophrenia affect cognition in controls. 4
24352232 2014
20
Monogenic diabetes: a diagnostic algorithm for clinicians. 4
24705260 2013
21
TBX6, LHX1 and copy number variations in the complex genetics of Müllerian aplasia. 4
23954021 2013
22
Severe prenatal renal anomalies associated with mutations in HNF1B or PAX2 genes. 4
23539225 2013
23
Chromosomal microarray versus karyotyping for prenatal diagnosis. 4
23215555 2012
24
Copy-number disorders are a common cause of congenital kidney malformations. 4
23159250 2012
25
17q12 microdeletion syndrome: three patients illustrating the phenotypic spectrum. 4
22887843 2012
26
Frame shift mutation of LHX1 is associated with Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome. 4
22740494 2012
27
A complex microdeletion 17q12 phenotype in a patient with recurrent de novo membranous nephropathy. 4
22583611 2012
28
Maturity onset diabetes of the young: clinical characteristics and outcome after kidney and pancreas transplantation in MODY3 and RCAD patients: a single center experience. 4
22432796 2012
29
Independent estimation of the frequency of rare CNVs in the UK population confirms their role in schizophrenia. 4
22130109 2012
30
Prenatally diagnosed 17q12 microdeletion syndrome with a novel association with congenital diaphragmatic hernia. 4
22178801 2012
31
Recurrent Transmission of a 17q12 Microdeletion and a Variable Clinical Spectrum. 4
22511894 2012
32
Successful simultaneous pancreas kidney transplantation in maturity-onset diabetes of the young type 5. 4
21989275 2011
33
Diagnosis, management, and prognosis of HNF1B nephropathy in adulthood. 4
21775974 2011
34
MODY: history, genetics, pathophysiology, and clinical decision making. 4
21788644 2011
35
Recurrent aberrations identified by array-CGH in patients with Mayer-Rokitansky-Küster-Hauser syndrome. 4
20797712 2011
36
High incidence of recurrent copy number variants in patients with isolated and syndromic Müllerian aplasia. 4
21278390 2011
37
Uncovering genomic causes of co-morbidity in epilepsy: gene-driven phenotypic characterization of rare microdeletions. 4
21858020 2011
38
Systematic review of TCF2 anomalies in renal cysts and diabetes syndrome/maturity onset diabetes of the young type 5. 4
21163139 2010
39
Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia. 4
21055719 2010
40
Autism in three patients with cystic or hyperechogenic kidneys and chromosome 17q12 deletion. 4
20587423 2010
41
Mutations in the hepatocyte nuclear factor-1β (HNF1B) gene are common with combined uterine and renal malformations but are not found with isolated uterine malformations. 4
20633866 2010
42
Deletion of hepatocyte nuclear factor-1-beta in an infant with prune belly syndrome. 4
20175044 2010
43
Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases. 4
20378641 2010
44
HNF1B alterations associated with congenital anomalies of the kidney and urinary tract. 4
20155289 2010
45
Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12. 4
19844256 2010
46
Diagnosis and classification of diabetes mellitus. 4
20042775 2010
47
Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports. 4
19889212 2009
48
HNF1B-related diabetes triggered by renal transplantation. 4
19639018 2009
49
Expanded clinical spectrum in hepatocyte nuclear factor 1b-maturity-onset diabetes of the young. 4
19417042 2009
50
HNF1B mutations associate with hypomagnesemia and renal magnesium wasting. 4
19389850 2009

Variations for 17q12 Recurrent Deletion Syndrome

Expression for 17q12 Recurrent Deletion Syndrome

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

Pathways for 17q12 Recurrent Deletion Syndrome

GO Terms for 17q12 Recurrent Deletion Syndrome

Sources for 17q12 Recurrent Deletion Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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36 IUPHAR
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45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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