MCID: CHR554
MIFTS: 13

Chromosome 17q11.2 Deletion Syndrome

Categories: 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 54
Nf1 Microdeletion Syndrome 54 74
Neurofibromatosis Type 1 Microdeletion Syndrome 54
Chromosome 17q11.2 Deletion Syndrome, 1.4mb 54
17q11 Microdeletion Syndrome 54
Van Asperen Syndrome 54
Monosomy 17q11 54
Del(17)(q11) 54

Classifications:



External Ids:

UMLS 74 C3150928

Summaries for Chromosome 17q11.2 Deletion Syndrome

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 97685Disease definition17q11 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.EpidemiologyThe 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 descriptionAffected 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).EtiologyGermline 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 counselingAs 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. An important gene associated with Chromosome 17q11.2 Deletion Syndrome is DEL17Q11.2 (Chromosome 17q11.2 Deletion Syndrome). Affiliated tissues include heart, skin and bone.

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:

# Related Disease Score Top Affiliating Genes
1 chromosome 17q11.2 deletion syndrome, 1.4-mb 12.5

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:

42
Heart, Skin, Bone

Publications for Chromosome 17q11.2 Deletion Syndrome

Articles related to Chromosome 17q11.2 Deletion Syndrome:

# Title Authors Year
1
Rare NF1 microdeletion syndrome in an Omani patient. ( 30564341 )
2018
2
Characterization of the Phenotype Associated with Microduplication Reciprocal to NF1 Microdeletion Syndrome. ( 28605748 )
2017
3
ADAP2 in heart development: a candidate gene for the occurrence of cardiovascular malformations in NF1 microdeletion syndrome. ( 24711647 )
2014
4
Positive regulation of apoptosis by HCA66, a new Apaf-1 interacting protein, and its putative role in the physiopathology of NF1 microdeletion syndrome patients. ( 17380155 )
2007
5
NF1 microdeletion syndrome: refined FISH characterization of sporadic and familial deletions with locus-specific probes. ( 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
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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