MCID: CHR581
MIFTS: 37

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 57
Nf1 Microdeletion Syndrome 57 12 59 73
Chromosome 17q11.2 Deletion Syndrome, 1.4mb 57 12 15
Neurofibromatosis Type 1 Microdeletion Syndrome 12 59
17q11 Microdeletion Syndrome 12 59
Van Asperen Syndrome 57 12
Chromosome 17q11.2 Deletion Syndrome, 1.4 Mb 29
Neurofibromatosis 1 Microdeletion Syndrome 57
17q11.2 Microduplication Syndrome 59
Grisart-Destrée Syndrome 59
Trisomy 17q11.2 59
Monosomy 17q11 59
Dup(17)(q11.2) 59
Del(17)(q11) 59

Characteristics:

Orphanet epidemiological data:

59
17q11.2 microduplication syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
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:

32
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 : 57 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 nf1 microdeletion syndrome, 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 malar flattening and intellectual disability

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 11.7
2 atypical neurofibroma 10.1 NF1 SUZ12
3 athyreosis 10.1 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

Symptoms via clinical synopsis from OMIM:

57
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

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

59 32 (show top 50) (show all 52)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 59 32 occasional (7.5%) Occasional (29-5%) HP:0000272
2 intellectual disability 59 32 very rare (1%) Frequent (79-30%) HP:0001249
3 seizures 59 32 very rare (1%) Occasional (29-5%) HP:0001250
4 global developmental delay 59 32 very rare (1%) Frequent (79-30%) HP:0001263
5 macroorchidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000053
6 delayed speech and language development 59 32 very rare (1%) Occasional (29-5%) HP:0000750
7 microcephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000252
8 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
9 thick nasal alae 59 32 occasional (7.5%) Occasional (29-5%) HP:0009928
10 thin vermilion border 59 32 occasional (7.5%) Occasional (29-5%) HP:0000233
11 sparse eyelashes 59 32 occasional (7.5%) Occasional (29-5%) HP:0000653
12 hypoplasia of dental enamel 59 32 frequent (33%) Frequent (79-30%) HP:0006297
13 deviated nasal septum 59 32 occasional (7.5%) Occasional (29-5%) HP:0004411
14 bifid nose 59 32 occasional (7.5%) Occasional (29-5%) HP:0011803
15 macrocephaly 32 very rare (1%) HP:0000256
16 hypertelorism 32 very rare (1%) HP:0000316
17 low-set ears 32 very rare (1%) HP:0000369
18 pectus excavatum 32 very rare (1%) HP:0000767
19 muscular hypotonia 32 very rare (1%) HP:0001252
20 scoliosis 32 very rare (1%) HP:0002650
21 coarse facial features 32 very rare (1%) HP:0000280
22 hearing impairment 32 very rare (1%) HP:0000365
23 cognitive impairment 32 very rare (1%) HP:0100543
24 strabismus 32 very rare (1%) HP:0000486
25 attention deficit hyperactivity disorder 32 very rare (1%) HP:0007018
26 broad neck 32 very rare (1%) HP:0000475
27 specific learning disability 32 very rare (1%) HP:0001328
28 pes cavus 32 very rare (1%) HP:0001761
29 joint hypermobility 32 very rare (1%) HP:0001382
30 abnormality of dental enamel 59 Frequent (79-30%)
31 facial asymmetry 32 very rare (1%) HP:0000324
32 bone cyst 32 very rare (1%) HP:0012062
33 large hands 32 very rare (1%) HP:0001176
34 tall stature 32 very rare (1%) HP:0000098
35 generalized hypotonia 32 HP:0001290
36 abnormality of cardiovascular system morphology 32 very rare (1%) HP:0030680
37 sparse eyebrow 59 Occasional (29-5%)
38 cafe-au-lait spot 32 very rare (1%) HP:0000957
39 overgrowth 32 HP:0001548
40 neurofibromas 32 HP:0001067
41 abnormal heart morphology 32 HP:0001627
42 focal t2 hyperintense basal ganglia lesion 32 very rare (1%) HP:0007183
43 neurofibrosarcoma 32 very rare (1%) HP:0100697
44 plexiform neurofibroma 32 very rare (1%) HP:0009732
45 subcutaneous neurofibromas 32 very rare (1%) HP:0100698
46 spinal neurofibromas 32 very rare (1%) HP:0009735
47 long foot 32 very rare (1%) HP:0001833
48 axillary freckling 32 very rare (1%) HP:0000997
49 inguinal freckling 32 HP:0030052
50 lisch nodules 32 very rare (1%) HP:0009737

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:

41
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
Characterization of the Phenotype Associated with Microduplication Reciprocal to NF1 Microdeletion Syndrome. ( 28605748 )
2017
2
ADAP2 in heart development: a candidate gene for the occurrence of cardiovascular malformations in NF1 microdeletion syndrome. ( 24711647 )
2014
3
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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
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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