MCID: CHR581
MIFTS: 36

Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb

Categories: Bone diseases, Cardiovascular diseases, Eye diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb

MalaCards integrated aliases for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb:

Name: Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb 56
Chromosome 17q11.2 Deletion Syndrome, 1.4mb 56 12 13 15
Nf1 Microdeletion Syndrome 56 12 58 71
Neurofibromatosis Type 1 Microdeletion Syndrome 12 58
Chromosome 17q11.2 Deletion Syndrome, 1.4 Mb 29 6
17q11 Microdeletion Syndrome 12 58
Van Asperen Syndrome 56 12
Neurofibromatosis 1 Microdeletion Syndrome 56
17q11.2 Microduplication Syndrome 58
Grisart-Destree Syndrome 58
Trisomy 17q11.2 58
Monosomy 17q11 58
Dup(17)(q11.2) 58
Del(17)(q11) 58

Characteristics:

Orphanet epidemiological data:

58
17q11.2 microduplication syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
contiguous gene deletion syndrome
patients have increased numbers and earlier onset of neurofibromas compared to patients with neurofibromatosis-1 due to point mutations


HPO:

31
chromosome 17q11.2 deletion syndrome, 1.4-mb:
Inheritance autosomal dominant inheritance sporadic


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare circulatory system diseases
Rare renal diseases
Rare bone diseases
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb

OMIM : 56 Approximately 5 to 20% of all patients with neurofibromatosis type I (162200) carry a heterozygous deletion of approximately 1.4 Mb involving the NF1 gene and contiguous genes lying in its flanking regions (Riva et al., 2000; Jenne et al., 2001), which is caused by nonallelic homologous recombination of NF1 repeats A and C (Dorschner et al., 2000). The 'NF1 microdeletion syndrome' is often characterized by a more severe phenotype than that observed in the majority of NF1 patients. In particular, patients with NF1 microdeletion often show variable facial dysmorphism, mental retardation, developmental delay, an excessive number of early-onset neurofibromas (Venturin et al., 2004), and an increased risk for malignant peripheral nerve sheath tumors (De Raedt et al., 2003). (613675)

MalaCards based summary : Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb, also known as chromosome 17q11.2 deletion syndrome, 1.4mb, is related to chromosome 17q11.2 deletion syndrome and neurofibromatosis, type iv, of riccardi. An important gene associated with Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb is DEL17Q11.2 (Chromosome 17q11.2 Deletion Syndrome). Affiliated tissues include bone, heart and eye, and related phenotypes are intellectual disability and global developmental delay

Related Diseases for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb

Diseases related to Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb 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 11.9
2 neurofibromatosis, type iv, of riccardi 10.3
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 pulmonary supravalvular stenosis 10.0
10 hypotonia 10.0
11 cellular neurofibroma 9.8 SUZ12 NF1
12 chromosome 15q26-qter deletion syndrome 9.7 UTP6 LRRC37B CRLF3 ADAP2
13 atypical neurofibroma 9.6 SUZ12 NF1 LRRC37B
14 plexiform neurofibroma 9.6 SUZ12 NF1

Graphical network of the top 20 diseases related to Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb:



Diseases related to Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb

Symptoms & Phenotypes for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb

Human phenotypes related to Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb:

58 31 (show top 50) (show all 52)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 very rare (1%) Frequent (79-30%) HP:0001249
2 global developmental delay 58 31 very rare (1%) Frequent (79-30%) HP:0001263
3 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
4 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
5 hypoplasia of dental enamel 58 31 frequent (33%) Frequent (79-30%) HP:0006297
6 malar flattening 58 31 occasional (7.5%) Occasional (29-5%) HP:0000272
7 seizures 58 31 very rare (1%) Occasional (29-5%) HP:0001250
8 macroorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000053
9 delayed speech and language development 58 31 very rare (1%) Occasional (29-5%) HP:0000750
10 thick nasal alae 58 31 occasional (7.5%) Occasional (29-5%) HP:0009928
11 thin vermilion border 58 31 occasional (7.5%) Occasional (29-5%) HP:0000233
12 sparse eyelashes 58 31 occasional (7.5%) Occasional (29-5%) HP:0000653
13 deviated nasal septum 58 31 occasional (7.5%) Occasional (29-5%) HP:0004411
14 bifid nose 58 31 occasional (7.5%) Occasional (29-5%) HP:0011803
15 sparse and thin eyebrow 31 occasional (7.5%) HP:0000535
16 macrocephaly 31 very rare (1%) HP:0000256
17 hypertelorism 31 very rare (1%) HP:0000316
18 low-set ears 31 very rare (1%) HP:0000369
19 pectus excavatum 31 very rare (1%) HP:0000767
20 scoliosis 31 very rare (1%) HP:0002650
21 muscular hypotonia 31 very rare (1%) HP:0001252
22 coarse facial features 31 very rare (1%) HP:0000280
23 hearing impairment 31 very rare (1%) HP:0000365
24 cafe-au-lait spot 31 very rare (1%) HP:0000957
25 cognitive impairment 31 very rare (1%) HP:0100543
26 strabismus 31 very rare (1%) HP:0000486
27 attention deficit hyperactivity disorder 31 very rare (1%) HP:0007018
28 broad neck 31 very rare (1%) HP:0000475
29 specific learning disability 31 very rare (1%) HP:0001328
30 pes cavus 31 very rare (1%) HP:0001761
31 facial asymmetry 31 very rare (1%) HP:0000324
32 joint hypermobility 31 very rare (1%) HP:0001382
33 tall stature 31 very rare (1%) HP:0000098
34 plexiform neurofibroma 31 very rare (1%) HP:0009732
35 lisch nodules 31 very rare (1%) HP:0009737
36 spinal neurofibromas 31 very rare (1%) HP:0009735
37 bone cyst 31 very rare (1%) HP:0012062
38 large hands 31 very rare (1%) HP:0001176
39 abnormality of cardiovascular system morphology 31 very rare (1%) HP:0030680
40 long foot 31 very rare (1%) HP:0001833
41 focal t2 hyperintense basal ganglia lesion 31 very rare (1%) HP:0007183
42 neurofibrosarcoma 31 very rare (1%) HP:0100697
43 subcutaneous neurofibromas 31 very rare (1%) HP:0100698
44 axillary freckling 31 very rare (1%) HP:0000997
45 optic nerve glioma 31 very rare (1%) HP:0009734
46 generalized hypotonia 31 HP:0001290
47 abnormality of dental enamel 58 Frequent (79-30%)
48 abnormal heart morphology 31 HP:0001627
49 overgrowth 31 HP:0001548
50 sparse eyebrow 58 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism
lisch nodules (iris hamartomas) (93%)

Skin Nails Hair Skin:
axillary freckling
inguinal freckling
neurofibromas, subcutaneous (76%)
neurofibromas, cutaneous (86%)
plexiform neurofibroma (76%)
more
Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum (31%)

Head And Neck Head:
macrocephaly (39%)

Skeletal:
bone cysts (50%)
increased joint laxity (72%)

Skeletal Hands:
large hands (46%)
accelerated carpal bone age

Muscle Soft Tissue:
hypotonia (45%)
soft fleshy palms (50%)

Neurologic Behavioral Psychiatric Manifestations:
attention-deficit hyperactivity disorder (33%)
attention difficulties (73%)

Head And Neck Face:
facial asymmetry
coarse facies
facial dysmorphism (in up to 90%)

Growth Other:
generalized overgrowth

Growth Height:
tall stature (46%)

Cardiovascular Heart:
congenital heart defects (21%)

Skeletal Spine:
scoliosis (43%)

Skeletal Feet:
large feet (46%)
pes cavus (17%)

Neurologic Central Nervous System:
delayed cognitive development/learning disabilities (93%)
mental retardation (38%)
speech difficulties (48%)
spinal neurofibromas (64%)
brain mri shows t2-weighted hyperintensities (17%)

Neoplasia:
optic glioma (19%)
malignant peripheral nerve sheath tumors (21%)

Clinical features from OMIM:

613675

Drugs & Therapeutics for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb

Search Clinical Trials , NIH Clinical Center for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb

Genetic Tests for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb

Genetic tests related to Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb:

# Genetic test Affiliating Genes
1 Chromosome 17q11.2 Deletion Syndrome, 1.4 Mb 29

Anatomical Context for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb

MalaCards organs/tissues related to Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb:

40
Bone, Heart, Eye, Brain, Skin

Publications for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb

Articles related to Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb:

(show all 45)
# Title Authors PMID Year
1
ADAP2 in heart development: a candidate gene for the occurrence of cardiovascular malformations in NF1 microdeletion syndrome. 61 56
24711647 2014
2
NF1 microduplication first clinical report: association with mild mental retardation, early onset of baldness and dental enamel hypoplasia? 61 56
18183042 2008
3
Uncommon Alu-mediated NF1 microdeletion with a breakpoint inside the NF1 gene. 61 56
15676286 2005
4
NF1 microdeletion syndrome: refined FISH characterization of sporadic and familial deletions with locus-specific probes. 61 56
10631140 2000
5
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting. 56
30665703 2019
6
Prevalence and architecture of de novo mutations in developmental disorders. 56
28135719 2017
7
Analysis of protein-coding genetic variation in 60,706 humans. 56
27535533 2016
8
Intrachromosomal mitotic nonallelic homologous recombination is the major molecular mechanism underlying type-2 NF1 deletions. 56
20725927 2010
9
Clinical characterisation of 29 neurofibromatosis type-1 patients with molecularly ascertained 1.4 Mb type-1 NF1 deletions. 56
20543202 2010
10
Type 2 NF1 deletions are highly unusual by virtue of the absence of nonallelic homologous recombination hotspots and an apparent preference for female mitotic recombination. 56
17999360 2007
11
Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth. 56
17632510 2007
12
High frequency of mosaicism among patients with neurofibromatosis type 1 (NF1) with microdeletions caused by somatic recombination of the JJAZ1 gene. 56
15257518 2004
13
Mental retardation and cardiovascular malformations in NF1 microdeleted patients point to candidate genes in 17q11.2. 56
14729829 2004
14
Elevated risk for MPNST in NF1 microdeletion patients. 56
12660952 2003
15
Molecular characterization and gene content of breakpoint boundaries in patients with neurofibromatosis type 1 with 17q11.2 microdeletions. 56
11468690 2001
16
Recombination hotspot in NF1 microdeletion patients. 56
11440991 2001
17
Unequal meiotic crossover: a frequent cause of NF1 microdeletions. 56
10775528 2000
18
Refined mapping of the human serotonin transporter (SLC6A4) gene within 17q11 adjacent to the CPD and NF1 genes. 56
10713891 2000
19
NF1 microdeletion breakpoints are clustered at flanking repetitive sequences. 56
10587576 2000
20
Somatic mosaicism of a greater than 1.7-Mb deletion of genomic DNA involving the entire NF1 gene as verified by FISH: further evidence for a contiguous gene syndrome in 17q11.2. 56
10528240 1999
21
Constitutional and mosaic large NF1 gene deletions in neurofibromatosis type 1. 56
9643287 1998
22
Gross deletions of the neurofibromatosis type 1 (NF1) gene are predominantly of maternal origin and commonly associated with a learning disability, dysmorphic features and developmental delay. 56
9654211 1998
23
Familial neurofibromatosis type 1 associated with an overgrowth syndrome resembling Weaver syndrome. 56
9598729 1998
24
Do NF1 gene deletions result in a characteristic phenotype? 56
9375928 1997
25
Deletion of the entire NF1 gene causing distinct manifestations in a family. 56
9066892 1997
26
Somatic mosaicism for deletion of the entire NF1 gene identified by FISH. 56
9048923 1997
27
Deletions spanning the neurofibromatosis type 1 gene: implications for genotype-phenotype correlations in neurofibromatosis type 1? 56
9143927 1997
28
Characterization of a cytogenetic 17q11.2 deletion in an NF1 patient with a contiguous gene syndrome. 56
8931693 1996
29
A cytogenetic deletion, del(17)(q11.22q21.1), in a patient with sporadic neurofibromatosis type 1 (NF1) associated with dysmorphism and developmental delay. 56
8929953 1996
30
Deletion of the entire NF1 gene detected by the FISH: four deletion patients associated with severe manifestations. 56
8585580 1995
31
Deletions spanning the neurofibromatosis 1 gene: identification and phenotype of five patients. 56
8116612 1994
32
NF1 microdeletion syndrome: case report of two new patients. 61
31703719 2019
33
Rare NF1 microdeletion syndrome in an Omani patient. 61
30564341 2018
34
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
35
Characterization of the Phenotype Associated with Microduplication Reciprocal to NF1 Microdeletion Syndrome. 61
28605748 2017
36
[Prenatal genetic diagnosis for a fetus with atypical neurofibromatosis type 1 microdeletion]. 61
27060318 2016
37
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
38
NF1 microduplications: identification of seven nonrelated individuals provides further characterization of the phenotype. 61
22241097 2012
39
Delineation of the clinical phenotype associated with non-mosaic type-2 NF1 deletions: two case reports. 61
22151963 2011
40
Overexpression of Jazf1 induces cardiac malformation through the upregulation of pro-apoptotic genes in mice. 61
21221781 2011
41
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
42
Connective tissue dysplasia in five new patients with NF1 microdeletions: further expansion of phenotype and review of the literature. 61
16467218 2006
43
Evidence by expression analysis of candidate genes for congenital heart defects in the NF1 microdeletion interval. 61
16138909 2005
44
Evidence for non-homologous end joining and non-allelic homologous recombination in atypical NF1 microdeletions. 61
15103551 2004
45
Identification of duplicated genes in 17q11.2 using FISH on stretched chromosomes and DNA fibers. 61
11479735 2001

Variations for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb

ClinVar genetic disease variations for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 subset of 14 genes: NF1 , RNF135 GRCh37/hg19 17q11.2(chr17:28941066-30326958)x1copy number loss Pathogenic 666441 17:28941066-30326958

Copy number variations for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 109502 17 26446120 26728821 Microdeletion NF1 NF1 microdeletion syndrome

Expression for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb

Search GEO for disease gene expression data for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb.

Pathways for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb

GO Terms for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb

Biological processes related to Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell cycle arrest GO:0071158 8.62 CRLF3 CDK5R1

Sources for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
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
Content
Loading form....