MCID: CHR554
MIFTS: 13

Chromosome 17q11.2 Deletion Syndrome

Categories: Rare diseases, Neuronal diseases

Aliases & Classifications for Chromosome 17q11.2 Deletion Syndrome

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

Name: Chromosome 17q11.2 Deletion Syndrome 53
Nf1 Microdeletion Syndrome 53 73
Neurofibromatosis Type 1 Microdeletion Syndrome 53
Chromosome 17q11.2 Deletion Syndrome, 1.4mb 53
17q11 Microdeletion Syndrome 53
Van Asperen Syndrome 53
Monosomy 17q11 53
Del(17)(q11) 53

Classifications:



External Ids:

UMLS 73 C3150928

Summaries for Chromosome 17q11.2 Deletion Syndrome

NIH Rare Diseases : 53 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 skin, heart 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 12.3

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:

41
Skin, Heart, Bone

Publications for Chromosome 17q11.2 Deletion Syndrome

Articles related to Chromosome 17q11.2 Deletion Syndrome:

# Title Authors Year
1
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
2
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

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11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
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33 ICD10
34 ICD10 via Orphanet
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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