MCID: 17Q010

17q12 Deletion Syndrome

Categories: Rare diseases

Aliases & Classifications for 17q12 Deletion Syndrome

MalaCards integrated aliases for 17q12 Deletion Syndrome:

Name: 17q12 Deletion Syndrome 53 25
Chromosome 17q12 Deletion Syndrome 53 72
17q12 Recurrent Deletion Syndrome 53 25
Recurrent Genomic Rearrangement in Chromosome 17q12 25
17q12 Chromosomal Microdeletion 25
17q12 Microdeletion Syndrome 53
17q12 Microdeletion 25
Monosomy 17q12 53
Deletion 17q12 25
Del(17)(q12) 53


External Ids:

UMLS 72 C3281138

Summaries for 17q12 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-K├╝ster-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 Deletion Syndrome, also known as chromosome 17q12 deletion syndrome, is related to chromosome 17q12 deletion syndrome and cakut. An important gene associated with 17q12 Deletion Syndrome is HNF1B (HNF1 Homeobox B). Affiliated tissues include kidney, brain and liver.

NIH Rare Diseases : 53 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.

Related Diseases for 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:

Kidney, Brain, Liver, Eye, Uterus, Pancreas

Publications for 17q12 Deletion Syndrome

Articles related to 17q12 Deletion Syndrome:

# Title Authors PMID Year
Clinical characteristics of HNF1B-related disorders in a Japanese population. 38
31131422 2019
Prenatal diagnosis of 17q12 deletion syndrome: a retrospective case series. 38
30634886 2019
17q12 Deletion Syndrome as a Rare Cause for Diabetes Mellitus Type MODY5. 38
30032214 2018
An estimation of the prevalence of genomic disorders using chromosomal microarray data. 38
29691480 2018
Prenatal diagnosis of 17q12 deletion syndrome: from fetal hyperechogenic kidneys to high risk for autism. 38
27634641 2016
17q12 deletion and duplication syndrome in Denmark-A clinical cohort of 38 patients and review of the literature. 38
27409573 2016

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

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
32 HPO
33 ICD10
34 ICD10 via Orphanet
38 LifeMap
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
55 Novoseek
58 OMIM via Orphanet
62 PubMed
71 Tocris
73 UMLS via Orphanet
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