MCID: 17Q010
MIFTS: 14

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 73
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

Classifications:



External Ids:

UMLS 73 C3281138

Summaries for 17q12 Deletion Syndrome

NIH Rare Diseases : 53 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 liver, kidney and brain.

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.

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:

41
Liver, Kidney, Brain, 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

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

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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
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74 UMLS via Orphanet
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