MCID: CHR554
MIFTS: 21

Chromosome 17q11.2 Deletion Syndrome

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Chromosome 17q11.2 Deletion Syndrome

MalaCards integrated aliases for Chromosome 17q11.2 Deletion Syndrome:

Name: Chromosome 17q11.2 Deletion Syndrome 12 52
Nf1 Microdeletion Syndrome 12 52 71
Neurofibromatosis Type 1 Microdeletion Syndrome 12 52
Chromosome 17q11.2 Deletion Syndrome, 1.4mb 52 15
17q11 Microdeletion Syndrome 12 52
Van Asperen Syndrome 12 52
Monosomy 17q11 52
Del(17)(q11) 52

Classifications:



External Ids:

Disease Ontology 12 DOID:0060403
ICD10 32 Q85.0
UMLS 71 C3150928

Summaries for Chromosome 17q11.2 Deletion Syndrome

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 97685 Definition 17q11 microdeletion syndrome is a rare severe form of neurofibromatosis type 1 (NF1; see this term) characterized by mild facial dysmorphism, developmental delay , intellectual disability , increased risk of malignancies, and a large number of neurofibromas. Epidemiology The prevalence of 17q11 microdeletion syndrome is not known. About 5% of NF1 cases are reported to have deletions of the entire NF1 gene . More than 170 affected patients have been reported to date. Clinical description Affected individuals often have unusual body habitus and facial dysmorphism including facial coarsening, prominent forehead, ptosis , down-slanting palpebral fissures, hypertelorism, broad nose and nasal bridge, low set ears, and micrognathia . Patients develop a large number of neurofibromas, often with early onset, including multiple cutaneous neurofibromas, and less commonly plexiform neurofibromas. Other characteristic features include attention deficit/hyperactivity disorder (AD/HD), delayed cognitive development and intellectual disability. Some patients are reported to have microcephaly or macrocephaly, optic pathway glioma, iris coloboma (see these terms), heart defects (mitral valve prolapse, aortic dilatation), large hands and feet, connective tissue dysplasia (joint hyperflexibility, soft palm skin), muscular hypotonia , scoliosis , pectus excavatum, and bone cysts. A higher risk of malignancy for NF1 and non-NF1 tumors is reported: malignant peripheral nerve sheath tumors (lifetime risk of 16-26%), retroperitoneal fibrosarcoma, and medulloblastoma with extensive nodularity (see this term). Etiology Germline and mosaic microdeletions of the NF1 gene and its flanking regions caused by non-allelic homologous recombination are reported in patients with this disorder. Most occur de novo . Genetic counseling As most cases are de novo , recurrence risk for offspring of unaffected parents is very low. Affected individuals have a 50% risk of transmitting the microdeletion, and prenatal and preimplantation genetic diagnosis is possible. Visit the Orphanet disease page for more resources.

MalaCards based summary : Chromosome 17q11.2 Deletion Syndrome, also known as nf1 microdeletion syndrome, is related to chromosome 17q11.2 deletion syndrome, 1.4-mb and neurofibromatosis. An important gene associated with Chromosome 17q11.2 Deletion Syndrome is DEL17Q11.2 (Chromosome 17q11.2 Deletion Syndrome). Affiliated tissues include heart, bone and skin.

Disease Ontology : 12 A chromosomal deletion syndrome that has material basis in a contiguous gene deletion on 17q11.2 that includes the NF1 gene.

Related Diseases for Chromosome 17q11.2 Deletion Syndrome

Diseases related to Chromosome 17q11.2 Deletion Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)
# Related Disease Score Top Affiliating Genes
1 chromosome 17q11.2 deletion syndrome, 1.4-mb 33.8 NF1 DEL17Q11.2
2 neurofibromatosis 28.9 RNF135 NF1 EVI2B EVI2A CRLF3
3 hepatocellular carcinoma 10.0
4 strabismus 10.0
5 cranioectodermal dysplasia 4 10.0
6 alacrima, achalasia, and mental retardation syndrome 10.0
7 learning disability 10.0
8 mechanical strabismus 10.0
9 neurofibroma 10.0
10 pulmonary supravalvular stenosis 10.0
11 hypotonia 10.0
12 plexiform neurofibroma 9.8 NF1 LRRC37B
13 chromosome 15q26-qter deletion syndrome 9.6 UTP6 LRRC37B CRLF3 ADAP2
14 neurofibromatosis, type i 9.5 NF1 CRLF3

Graphical network of the top 20 diseases related to Chromosome 17q11.2 Deletion Syndrome:



Diseases related to Chromosome 17q11.2 Deletion Syndrome

Symptoms & Phenotypes for Chromosome 17q11.2 Deletion Syndrome

Drugs & Therapeutics for Chromosome 17q11.2 Deletion Syndrome

Search Clinical Trials , NIH Clinical Center for Chromosome 17q11.2 Deletion Syndrome

Genetic Tests for Chromosome 17q11.2 Deletion Syndrome

Anatomical Context for Chromosome 17q11.2 Deletion Syndrome

MalaCards organs/tissues related to Chromosome 17q11.2 Deletion Syndrome:

40
Heart, Bone, Skin

Publications for Chromosome 17q11.2 Deletion Syndrome

Articles related to Chromosome 17q11.2 Deletion Syndrome:

(show all 19)
# Title Authors PMID Year
1
NF1 microdeletion syndrome: a phenotypical characterization of a rare case of neurofibromatosis type 1. 61
32566957 2020
2
NF1 microdeletion syndrome: case report of two new patients. 61
31703719 2019
3
Rare NF1 microdeletion syndrome in an Omani patient. 61
30564341 2018
4
Identification of an atypical microdeletion generating the RNF135-SUZ12 chimeric gene and causing a position effect in an NF1 patient with overgrowth. 61
28776093 2017
5
Characterization of the Phenotype Associated with Microduplication Reciprocal to NF1 Microdeletion Syndrome. 61
28605748 2017
6
[Prenatal genetic diagnosis for a fetus with atypical neurofibromatosis type 1 microdeletion]. 61
27060318 2016
7
A novel de novo microdeletion at 17q11.2 adjacent to NF1 gene associated with developmental delay, short stature, microcephaly and dysmorphic features. 61
27247625 2016
8
ADAP2 in heart development: a candidate gene for the occurrence of cardiovascular malformations in NF1 microdeletion syndrome. 61
24711647 2014
9
NF1 microduplications: identification of seven nonrelated individuals provides further characterization of the phenotype. 61
22241097 2012
10
Delineation of the clinical phenotype associated with non-mosaic type-2 NF1 deletions: two case reports. 61
22151963 2011
11
Overexpression of Jazf1 induces cardiac malformation through the upregulation of pro-apoptotic genes in mice. 61
21221781 2011
12
NF1 microduplication first clinical report: association with mild mental retardation, early onset of baldness and dental enamel hypoplasia? 61
18183042 2008
13
Positive regulation of apoptosis by HCA66, a new Apaf-1 interacting protein, and its putative role in the physiopathology of NF1 microdeletion syndrome patients. 61
17380155 2007
14
Connective tissue dysplasia in five new patients with NF1 microdeletions: further expansion of phenotype and review of the literature. 61
16467218 2006
15
Evidence by expression analysis of candidate genes for congenital heart defects in the NF1 microdeletion interval. 61
16138909 2005
16
Uncommon Alu-mediated NF1 microdeletion with a breakpoint inside the NF1 gene. 61
15676286 2005
17
Evidence for non-homologous end joining and non-allelic homologous recombination in atypical NF1 microdeletions. 61
15103551 2004
18
Identification of duplicated genes in 17q11.2 using FISH on stretched chromosomes and DNA fibers. 61
11479735 2001
19
NF1 microdeletion syndrome: refined FISH characterization of sporadic and familial deletions with locus-specific probes. 61
10631140 2000

Variations for Chromosome 17q11.2 Deletion Syndrome

Expression for Chromosome 17q11.2 Deletion Syndrome

Search GEO for disease gene expression data for Chromosome 17q11.2 Deletion Syndrome.

Pathways for Chromosome 17q11.2 Deletion Syndrome

GO Terms for Chromosome 17q11.2 Deletion Syndrome

Sources for Chromosome 17q11.2 Deletion Syndrome

3 CDC
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10 dbSNP
11 DGIdb
17 EFO
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19 FMA
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30 HMDB
31 HPO
32 ICD10
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44 MESH via Orphanet
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50 NDF-RT
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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
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