MCID: CHR581
MIFTS: 35

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 58
Chromosome 17q11.2 Deletion Syndrome, 1.4mb 58 12 13 15
Nf1 Microdeletion Syndrome 58 12 60 74
Neurofibromatosis Type 1 Microdeletion Syndrome 12 60
17q11 Microdeletion Syndrome 12 60
Van Asperen Syndrome 58 12
Chromosome 17q11.2 Deletion Syndrome, 1.4 Mb 30
Neurofibromatosis 1 Microdeletion Syndrome 58
17q11.2 Microduplication Syndrome 60
Grisart-Destrée Syndrome 60
Trisomy 17q11.2 60
Monosomy 17q11 60
Dup(17)(q11.2) 60
Del(17)(q11) 60

Characteristics:

Orphanet epidemiological data:

60
17q11.2 microduplication syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
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:

33
chromosome 17q11.2 deletion syndrome, 1.4-mb:
Inheritance autosomal dominant inheritance sporadic


Classifications:



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

OMIM : 58 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 atypical neurofibroma. 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 skin, 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:

# Related Disease Score Top Affiliating Genes
1 chromosome 17q11.2 deletion syndrome 11.8
2 atypical neurofibroma 10.2 NF1 SUZ12
3 athyreosis 10.2 NKX2-5 SLC26A4
4 endometrial stromal nodule 10.1 JAZF1 SUZ12
5 endometrial stromal tumor 10.0 JAZF1 SUZ12

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:

60 33 (show top 50) (show all 52)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 60 33 very rare (1%) Frequent (79-30%) HP:0001249
2 global developmental delay 60 33 very rare (1%) Frequent (79-30%) HP:0001263
3 microcephaly 60 33 frequent (33%) Frequent (79-30%) HP:0000252
4 short stature 60 33 frequent (33%) Frequent (79-30%) HP:0004322
5 hypoplasia of dental enamel 60 33 frequent (33%) Frequent (79-30%) HP:0006297
6 malar flattening 60 33 occasional (7.5%) Occasional (29-5%) HP:0000272
7 seizures 60 33 very rare (1%) Occasional (29-5%) HP:0001250
8 macroorchidism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000053
9 delayed speech and language development 60 33 very rare (1%) Occasional (29-5%) HP:0000750
10 thick nasal alae 60 33 occasional (7.5%) Occasional (29-5%) HP:0009928
11 thin vermilion border 60 33 occasional (7.5%) Occasional (29-5%) HP:0000233
12 sparse eyelashes 60 33 occasional (7.5%) Occasional (29-5%) HP:0000653
13 deviated nasal septum 60 33 occasional (7.5%) Occasional (29-5%) HP:0004411
14 bifid nose 60 33 occasional (7.5%) Occasional (29-5%) HP:0011803
15 sparse and thin eyebrow 33 occasional (7.5%) HP:0000535
16 macrocephaly 33 very rare (1%) HP:0000256
17 hypertelorism 33 very rare (1%) HP:0000316
18 low-set ears 33 very rare (1%) HP:0000369
19 pectus excavatum 33 very rare (1%) HP:0000767
20 muscular hypotonia 33 very rare (1%) HP:0001252
21 scoliosis 33 very rare (1%) HP:0002650
22 coarse facial features 33 very rare (1%) HP:0000280
23 hearing impairment 33 very rare (1%) HP:0000365
24 cognitive impairment 33 very rare (1%) HP:0100543
25 strabismus 33 very rare (1%) HP:0000486
26 attention deficit hyperactivity disorder 33 very rare (1%) HP:0007018
27 broad neck 33 very rare (1%) HP:0000475
28 specific learning disability 33 very rare (1%) HP:0001328
29 pes cavus 33 very rare (1%) HP:0001761
30 joint hypermobility 33 very rare (1%) HP:0001382
31 facial asymmetry 33 very rare (1%) HP:0000324
32 bone cyst 33 very rare (1%) HP:0012062
33 large hands 33 very rare (1%) HP:0001176
34 tall stature 33 very rare (1%) HP:0000098
35 abnormality of cardiovascular system morphology 33 very rare (1%) HP:0030680
36 cafe-au-lait spot 33 very rare (1%) HP:0000957
37 long foot 33 very rare (1%) HP:0001833
38 focal t2 hyperintense basal ganglia lesion 33 very rare (1%) HP:0007183
39 neurofibrosarcoma 33 very rare (1%) HP:0100697
40 plexiform neurofibroma 33 very rare (1%) HP:0009732
41 subcutaneous neurofibromas 33 very rare (1%) HP:0100698
42 spinal neurofibromas 33 very rare (1%) HP:0009735
43 axillary freckling 33 very rare (1%) HP:0000997
44 lisch nodules 33 very rare (1%) HP:0009737
45 optic nerve glioma 33 very rare (1%) HP:0009734
46 abnormality of dental enamel 60 Frequent (79-30%)
47 generalized hypotonia 33 HP:0001290
48 overgrowth 33 HP:0001548
49 sparse eyebrow 60 Occasional (29-5%)
50 neurofibromas 33 HP:0001067

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
lisch nodules (iris hamartomas) (93%)

Growth Other:
generalized overgrowth

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%)

Skin Nails Hair Skin:
axillary freckling
inguinal freckling
neurofibromas, subcutaneous (76%)
neurofibromas, cutaneous (86%)
plexiform neurofibroma (76%)
more
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 30

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

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

42
Bone, Heart, Skin, Brain, Eye

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

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

# 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

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

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

7
# CNVD ID Chromosom 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 peripheral nervous system development GO:0007422 8.62 ASIC2 NF1

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

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
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46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
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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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