MCID: CHR581
MIFTS: 35

Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb

Categories: Neuronal diseases, Eye diseases, Cardiovascular diseases, Nephrological diseases, Skin diseases, Fetal diseases, Rare diseases, Genetic 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 macroorchidism and thin vermilion border

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 11.6
2 atypical neurofibroma 10.3 NF1 SUZ12
3 athyreosis 10.2 NKX2-5 SLC26A4
4 endometrial stromal nodule 10.0 JAZF1 SUZ12

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 macroorchidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000053
2 thin vermilion border 59 32 occasional (7.5%) Occasional (29-5%) HP:0000233
3 microcephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000252
4 malar flattening 59 32 occasional (7.5%) Occasional (29-5%) HP:0000272
5 sparse eyelashes 59 32 occasional (7.5%) Occasional (29-5%) HP:0000653
6 delayed speech and language development 59 32 very rare (1%) Occasional (29-5%) HP:0000750
7 intellectual disability 59 32 very rare (1%) Frequent (79-30%) HP:0001249
8 seizures 59 32 very rare (1%) Occasional (29-5%) HP:0001250
9 global developmental delay 59 32 very rare (1%) Frequent (79-30%) HP:0001263
10 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
11 deviated nasal septum 59 32 occasional (7.5%) Occasional (29-5%) HP:0004411
12 hypoplasia of dental enamel 59 32 frequent (33%) Frequent (79-30%) HP:0006297
13 thick nasal alae 59 32 occasional (7.5%) Occasional (29-5%) HP:0009928
14 bifid nose 59 32 occasional (7.5%) Occasional (29-5%) HP:0011803
15 sparse eyebrow 59 Occasional (29-5%)
16 abnormality of dental enamel 59 Frequent (79-30%)
17 coarse facial features 32 very rare (1%) HP:0000280
18 hypertelorism 32 very rare (1%) HP:0000316
19 cafe-au-lait spot 32 very rare (1%) HP:0000957
20 neurofibromas 32 HP:0001067
21 abnormal heart morphology 32 HP:0001627
22 tall stature 32 very rare (1%) HP:0000098
23 macrocephaly 32 very rare (1%) HP:0000256
24 facial asymmetry 32 very rare (1%) HP:0000324
25 hearing impairment 32 very rare (1%) HP:0000365
26 low-set ears 32 very rare (1%) HP:0000369
27 broad neck 32 very rare (1%) HP:0000475
28 strabismus 32 very rare (1%) HP:0000486
29 pectus excavatum 32 very rare (1%) HP:0000767
30 axillary freckling 32 very rare (1%) HP:0000997
31 large hands 32 very rare (1%) HP:0001176
32 muscular hypotonia 32 very rare (1%) HP:0001252
33 generalized hypotonia 32 HP:0001290
34 specific learning disability 32 very rare (1%) HP:0001328
35 joint hypermobility 32 very rare (1%) HP:0001382
36 overgrowth 32 HP:0001548
37 pes cavus 32 very rare (1%) HP:0001761
38 long foot 32 very rare (1%) HP:0001833
39 scoliosis 32 very rare (1%) HP:0002650
40 attention deficit hyperactivity disorder 32 very rare (1%) HP:0007018
41 focal t2 hyperintense basal ganglia lesion 32 very rare (1%) HP:0007183
42 plexiform neurofibroma 32 very rare (1%) HP:0009732
43 optic nerve glioma 32 very rare (1%) HP:0009734
44 spinal neurofibromas 32 very rare (1%) HP:0009735
45 lisch nodules 32 very rare (1%) HP:0009737
46 bone cyst 32 very rare (1%) HP:0012062
47 inguinal freckling 32 HP:0030052
48 abnormality of cardiovascular system morphology 32 very rare (1%) HP:0030680
49 cognitive impairment 32 very rare (1%) HP:0100543
50 neurofibrosarcoma 32 very rare (1%) HP:0100697

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
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, 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
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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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