MCID: 17Q009
MIFTS: 18

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 52 25
17q12 Deletion Syndrome 52 25
Recurrent Genomic Rearrangement in Chromosome 17q12 25
Chromosome 17q12 Deletion Syndrome 52
17q12 Chromosomal Microdeletion 25
17q12 Microdeletion Syndrome 52
17q12 Microdeletion 25
Monosomy 17q12 52
Deletion 17q12 25
Del(17)(q12) 52

Characteristics:

GeneReviews:

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

Classifications:



Summaries for 17q12 Recurrent Deletion Syndrome

Genetics Home Reference : 25 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. The signs and symptoms of 17q12 deletion syndrome vary widely, even among affected members of the same family. Among the more common features associated with this chromosomal change are problems with development or function of the kidneys and urinary system. These abnormalities range from very severe malformations, leading to kidney failure before birth, to mild or no problems with kidney and urinary tract function. Fluid-filled sacs (cysts) in the kidneys are particularly common. Many affected individuals also develop a form of diabetes called maturity-onset diabetes of the young type 5 (MODY5), which is caused by a malfunction of certain cells in the pancreas. MODY5 usually appears in adolescence or early adulthood, most often before age 25. The combination of kidney cysts and MODY5 is sometimes referred to as renal cysts and diabetes (RCAD) syndrome. About half of people with 17q12 deletion syndrome have delayed development (particularly speech and language delays), intellectual disability, or behavioral or psychiatric disorders. Behavioral and psychiatric conditions that have been reported in people with 17q12 deletion syndrome include autism spectrum disorder (which affects social interaction and communication), schizophrenia, anxiety, and bipolar disorder. Less commonly, 17q12 deletion syndrome also causes abnormalities of the eyes, liver, brain, genitalia, and other body systems. Some females with this chromosomal change have Mayer-Rokitansky-Küster-Hauser syndrome, which is characterized by underdevelopment or absence of the vagina and uterus. 17q12 deletion syndrome is also sometimes associated with subtle differences in facial features.

MalaCards based summary : 17q12 Recurrent Deletion Syndrome, also known as 17q12 deletion syndrome, is related to cakut and diaphragmatic hernia, congenital. An important gene associated with 17q12 Recurrent Deletion Syndrome is HNF1B (HNF1 Homeobox B). Affiliated tissues include kidney, liver and eye.

NIH Rare Diseases : 52 17q12 deletion syndrome 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.

GeneReviews: NBK401562

Related Diseases for 17q12 Recurrent Deletion Syndrome

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:

40
Kidney, Liver, Eye, Brain, Pancreas, Uterus, Testes

Publications for 17q12 Recurrent Deletion Syndrome

Articles related to 17q12 Recurrent Deletion Syndrome:

(showing 67, show less)
# Title Authors PMID Year
1
17q12 deletion and duplication syndrome in Denmark-A clinical cohort of 38 patients and review of the literature. 24 61
27409573 2016
2
Chromosome 17q12 microdeletions but not intragenic HNF1B mutations link developmental kidney disease and psychiatric disorder. 24
27234567 2016
3
HNF1B-associated clinical phenotypes: the kidney and beyond. 24
26160100 2016
4
Hepatocyte Nuclear Factor 1β-Associated Kidney Disease: More than Renal Cysts and Diabetes. 24
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. 24
26429400 2015
6
Copy number variation analysis identifies novel CAKUT candidate genes in children with a solitary functioning kidney. 24
26352300 2015
7
Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management--A KDIGO consensus report. 24
25738250 2015
8
Criteria for HNF1B analysis in patients with congenital abnormalities of kidney and urinary tract. 24
25500806 2015
9
Genomic imbalances in pediatric patients with chronic kidney disease. 24
25893603 2015
10
Towards a new point of view on the phenotype of patients with a 17q12 microdeletion syndrome. 24
25324567 2015
11
Copy-number variation associated with congenital anomalies of the kidney and urinary tract. 24
25270717 2015
12
HNF1B-associated renal and extra-renal disease-an expanding clinical spectrum. 24
25536396 2015
13
Hypomagnesemia as First Clinical Manifestation of ADTKD-HNF1B: A Case Series and Literature Review. 24
26340261 2015
14
Congenital diaphragmatic hernia may be associated with 17q12 microdeletion syndrome. 24
25425496 2015
15
Duodenal atresia in 17q12 microdeletion including HNF1B: a new associated malformation in this syndrome. 24
25256560 2014
16
Chronic renal failure of unknown origin is caused by HNF1B mutations in 9% of adult patients: a single centre cohort analysis. 24
24387224 2014
17
Variable phenotype in 17q12 microdeletions: clinical and molecular characterization of a new case. 24
24487052 2014
18
CNVs conferring risk of autism or schizophrenia affect cognition in controls. 24
24352232 2014
19
Clinical report of a 17q12 microdeletion with additionally unreported clinical features. 24
24991439 2014
20
Monogenic diabetes: a diagnostic algorithm for clinicians. 24
24705260 2013
21
TBX6, LHX1 and copy number variations in the complex genetics of Müllerian aplasia. 24
23954021 2013
22
Severe prenatal renal anomalies associated with mutations in HNF1B or PAX2 genes. 24
23539225 2013
23
Copy-number disorders are a common cause of congenital kidney malformations. 24
23159250 2012
24
Chromosomal microarray versus karyotyping for prenatal diagnosis. 24
23215555 2012
25
Frame shift mutation of LHX1 is associated with Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome. 24
22740494 2012
26
17q12 microdeletion syndrome: three patients illustrating the phenotypic spectrum. 24
22887843 2012
27
Maturity onset diabetes of the young: clinical characteristics and outcome after kidney and pancreas transplantation in MODY3 and RCAD patients: a single center experience. 24
22432796 2012
28
A complex microdeletion 17q12 phenotype in a patient with recurrent de novo membranous nephropathy. 24
22583611 2012
29
Independent estimation of the frequency of rare CNVs in the UK population confirms their role in schizophrenia. 24
22130109 2012
30
Recurrent Transmission of a 17q12 Microdeletion and a Variable Clinical Spectrum. 24
22511894 2012
31
Prenatally diagnosed 17q12 microdeletion syndrome with a novel association with congenital diaphragmatic hernia. 24
22178801 2012
32
Successful simultaneous pancreas kidney transplantation in maturity-onset diabetes of the young type 5. 24
21989275 2011
33
Diagnosis, management, and prognosis of HNF1B nephropathy in adulthood. 24
21775974 2011
34
MODY: history, genetics, pathophysiology, and clinical decision making. 24
21788644 2011
35
Recurrent aberrations identified by array-CGH in patients with Mayer-Rokitansky-Küster-Hauser syndrome. 24
20797712 2011
36
High incidence of recurrent copy number variants in patients with isolated and syndromic Müllerian aplasia. 24
21278390 2011
37
Uncovering genomic causes of co-morbidity in epilepsy: gene-driven phenotypic characterization of rare microdeletions. 24
21858020 2011
38
Systematic review of TCF2 anomalies in renal cysts and diabetes syndrome/maturity onset diabetes of the young type 5. 24
21163139 2010
39
Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia. 24
21055719 2010
40
Autism in three patients with cystic or hyperechogenic kidneys and chromosome 17q12 deletion. 24
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. 24
20633866 2010
42
Deletion of hepatocyte nuclear factor-1-beta in an infant with prune belly syndrome. 24
20175044 2010
43
Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases. 24
20378641 2010
44
HNF1B alterations associated with congenital anomalies of the kidney and urinary tract. 24
20155289 2010
45
Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12. 24
19844256 2010
46
Diagnosis and classification of diabetes mellitus. 24
20042775 2010
47
Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports. 24
19889212 2009
48
HNF1B-related diabetes triggered by renal transplantation. 24
19639018 2009
49
Expanded clinical spectrum in hepatocyte nuclear factor 1b-maturity-onset diabetes of the young. 24
19417042 2009
50
HNF1B mutations associate with hypomagnesemia and renal magnesium wasting. 24
19389850 2009
51
Genomic imbalances associated with mullerian aplasia. 24
18039948 2008
52
Hepatocyte nuclear factor-1beta gene deletions--a common cause of renal disease. 24
17971380 2008
53
Massively enlarged polycystic kidneys in monozygotic twins with TCF2/HNF-1beta (hepatocyte nuclear factor-1beta) heterozygous whole-gene deletion. 24
18037103 2007
54
Management of children with autism spectrum disorders. 24
17967921 2007
55
Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy. 24
17924346 2007
56
Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome. 24
16906162 2006
57
Large genomic rearrangements in the hepatocyte nuclear factor-1beta (TCF2) gene are the most frequent cause of maturity-onset diabetes of the young type 5. 24
16249435 2005
58
The generalized aminoaciduria seen in patients with hepatocyte nuclear factor-1alpha mutations is a feature of all patients with diabetes and is associated with glucosuria. 24
11522670 2001
59
Liver and kidney function in Japanese patients with maturity-onset diabetes of the young. 24
9839108 1998
60
Mutation in hepatocyte nuclear factor-1 beta gene (TCF2) associated with MODY. 24
9398836 1997
61
Clinical characteristics of HNF1B-related disorders in a Japanese population. 61
31131422 2019
62
Case report: extreme coronary calcifications and hypomagnesemia in a patient with a 17q12 deletion involving HNF1B. 61
31500578 2019
63
Prenatal diagnosis of 17q12 deletion syndrome: a retrospective case series. 61
30634886 2019
64
17q12 Deletion Syndrome as a Rare Cause for Diabetes Mellitus Type MODY5. 61
30032214 2018
65
An estimation of the prevalence of genomic disorders using chromosomal microarray data. 61
29691480 2018
66
17q12 Recurrent Deletion Syndrome 61
27929632 2016
67
Prenatal diagnosis of 17q12 deletion syndrome: from fetal hyperechogenic kidneys to high risk for autism. 61
27634641 2016

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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....