MCID: CHR554
MIFTS: 30

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 20 15
Nf1 Microdeletion Syndrome 12 20 70
Neurofibromatosis Type 1 Microdeletion Syndrome 12 20
17q11 Microdeletion Syndrome 12 20
Van Asperen Syndrome 12 20
Chromosome 17q11.2 Deletion Syndrome, 1.4mb 20
Monosomy 17q11 20
Del(17)(q11) 20

Classifications:



Summaries for Chromosome 17q11.2 Deletion Syndrome

GARD : 20 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.

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 RNF135 (Ring Finger Protein 135). Affiliated tissues include eye, brain and cortex, and related phenotypes are multiple cafe-au-lait spots and freckling

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

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

Human phenotypes related to Chromosome 17q11.2 Deletion Syndrome:

31 (show top 50) (show all 85)
# Description HPO Frequency HPO Source Accession
1 multiple cafe-au-lait spots 31 hallmark (90%) HP:0007565
2 freckling 31 hallmark (90%) HP:0001480
3 short attention span 31 hallmark (90%) HP:0000736
4 impaired social interactions 31 hallmark (90%) HP:0000735
5 sleep disturbance 31 frequent (33%) HP:0002360
6 abnormal facial shape 31 frequent (33%) HP:0001999
7 progressive visual loss 31 frequent (33%) HP:0000529
8 specific learning disability 31 frequent (33%) HP:0001328
9 telangiectasia of the skin 31 frequent (33%) HP:0100585
10 migraine 31 frequent (33%) HP:0002076
11 memory impairment 31 frequent (33%) HP:0002354
12 plexiform neurofibroma 31 frequent (33%) HP:0009732
13 lisch nodules 31 frequent (33%) HP:0009737
14 papule 31 frequent (33%) HP:0200034
15 thickened skin 31 frequent (33%) HP:0001072
16 brain imaging abnormality 31 frequent (33%) HP:0410263
17 language impairment 31 frequent (33%) HP:0002463
18 beaking of vertebral bodies t12-l3 31 frequent (33%) HP:0004562
19 nevus anemicus 31 frequent (33%) HP:0025105
20 abnormal central motor function 31 frequent (33%) HP:0011442
21 intellectual disability 31 occasional (7.5%) HP:0001249
22 scoliosis 31 occasional (7.5%) HP:0002650
23 kyphosis 31 occasional (7.5%) HP:0002808
24 osteopenia 31 occasional (7.5%) HP:0000938
25 global developmental delay 31 occasional (7.5%) HP:0001263
26 short stature 31 occasional (7.5%) HP:0004322
27 blindness 31 occasional (7.5%) HP:0000618
28 delayed puberty 31 occasional (7.5%) HP:0000823
29 strabismus 31 occasional (7.5%) HP:0000486
30 osteoporosis 31 occasional (7.5%) HP:0000939
31 intrauterine growth retardation 31 occasional (7.5%) HP:0001511
32 coarctation of aorta 31 occasional (7.5%) HP:0001680
33 hypertrophic cardiomyopathy 31 occasional (7.5%) HP:0001639
34 glaucoma 31 occasional (7.5%) HP:0000501
35 deeply set eye 31 occasional (7.5%) HP:0000490
36 proptosis 31 occasional (7.5%) HP:0000520
37 broad forehead 31 occasional (7.5%) HP:0000337
38 stroke 31 occasional (7.5%) HP:0001297
39 pulmonic stenosis 31 occasional (7.5%) HP:0001642
40 renovascular hypertension 31 occasional (7.5%) HP:0100817
41 abnormal lung morphology 31 occasional (7.5%) HP:0002088
42 hypermelanotic macule 31 occasional (7.5%) HP:0001034
43 pulmonary arterial hypertension 31 occasional (7.5%) HP:0002092
44 large hands 31 occasional (7.5%) HP:0001176
45 osteolysis 31 occasional (7.5%) HP:0002797
46 retinal vascular proliferation 31 occasional (7.5%) HP:0007850
47 abnormal choroid morphology 31 occasional (7.5%) HP:0000610
48 polyneuropathy 31 occasional (7.5%) HP:0001271
49 focal-onset seizure 31 occasional (7.5%) HP:0007359
50 renal artery stenosis 31 occasional (7.5%) HP:0001920

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
Eye, Brain, Cortex, Lung, Breast

Publications for Chromosome 17q11.2 Deletion Syndrome

Articles related to Chromosome 17q11.2 Deletion Syndrome:

(show all 20)
# Title Authors PMID Year
1
A novel MEIS2 mutation explains the complex phenotype in a boy with a typical NF1 microdeletion syndrome. 61
33722742 2021
2
NF1 microdeletion syndrome: a phenotypical characterization of a rare case of neurofibromatosis type 1. 61
32566957 2020
3
NF1 microdeletion syndrome: case report of two new patients. 61
31703719 2019
4
Rare NF1 microdeletion syndrome in an Omani patient. 61
30564341 2018
5
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
6
Characterization of the Phenotype Associated with Microduplication Reciprocal to NF1 Microdeletion Syndrome. 61
28605748 2017
7
[Prenatal genetic diagnosis for a fetus with atypical neurofibromatosis type 1 microdeletion]. 61
27060318 2016
8
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
9
ADAP2 in heart development: a candidate gene for the occurrence of cardiovascular malformations in NF1 microdeletion syndrome. 61
24711647 2014
10
NF1 microduplications: identification of seven nonrelated individuals provides further characterization of the phenotype. 61
22241097 2012
11
Delineation of the clinical phenotype associated with non-mosaic type-2 NF1 deletions: two case reports. 61
22151963 2011
12
Overexpression of Jazf1 induces cardiac malformation through the upregulation of pro-apoptotic genes in mice. 61
21221781 2011
13
NF1 microduplication first clinical report: association with mild mental retardation, early onset of baldness and dental enamel hypoplasia? 61
18183042 2008
14
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
15
Connective tissue dysplasia in five new patients with NF1 microdeletions: further expansion of phenotype and review of the literature. 61
16467218 2006
16
Evidence by expression analysis of candidate genes for congenital heart defects in the NF1 microdeletion interval. 61
16138909 2005
17
Uncommon Alu-mediated NF1 microdeletion with a breakpoint inside the NF1 gene. 61
15676286 2005
18
Evidence for non-homologous end joining and non-allelic homologous recombination in atypical NF1 microdeletions. 61
15103551 2004
19
Identification of duplicated genes in 17q11.2 using FISH on stretched chromosomes and DNA fibers. 61
11479735 2001
20
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

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