MCID: CHR581
MIFTS: 34

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 54
Nf1 Microdeletion Syndrome 12 56 69
Neurofibromatosis Type 1 Microdeletion Syndrome 12 56
Chromosome 17q11.2 Deletion Syndrome, 1.4mb 12 14
17q11 Microdeletion Syndrome 12 56
Chromosome 17q11.2 Deletion Syndrome, 1.4 Mb 29
17q11.2 Microduplication Syndrome 56
Grisart-Destrée Syndrome 56
Van Asperen Syndrome 12
Trisomy 17q11.2 56
Monosomy 17q11 56
Dup(17)(q11.2) 56
Del(17)(q11) 56

Characteristics:

Orphanet epidemiological data:

56
17q11.2 microduplication syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

54
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 : 54
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 panhypophysitis, and has symptoms including short stature, seizures and microcephaly. An important gene associated with Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb is NF1 (Neurofibromin 1). Affiliated tissues include bone, heart and skin.

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:

id Related Disease Score Top Affiliating Genes
1 chromosome 17q11.2 deletion syndrome 11.3
2 panhypophysitis 10.3 NKX2-5 SLC26A4
3 c-p angle neurinoma 10.3 NF1 SUZ12
4 panophthalmitis 10.1 JAZF1 SUZ12
5 benign pleural mesothelioma 10.0 NF1 SUZ12
6 iron overload in africa 4.1 ADAP2 APIP ASIC2 BLMH GIT1 GOSR1

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:

54

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

Skin Nails & Hair- Skin:
axillary freckling
inguinal freckling
neurofibromas, subcutaneous (76%)
neurofibromas, cutaneous (86%)
plexiform neurofibroma (76%)
more
Chest- External Features:
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- Eyes:
hypertelorism
lisch nodules (iris hamartomas) (93%)

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

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

56 32 (show top 50) (show all 51)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 frequent (33%) Frequent (79-30%) HP:0004322
2 seizures 56 32 very rare (1%) Occasional (29-5%) HP:0001250
3 microcephaly 56 32 frequent (33%) Frequent (79-30%) HP:0000252
4 global developmental delay 56 32 very rare (1%) Frequent (79-30%) HP:0001263
5 intellectual disability 56 32 very rare (1%) Frequent (79-30%) HP:0001249
6 thin vermilion border 56 32 occasional (7.5%) Occasional (29-5%) HP:0000233
7 thick nasal alae 56 32 occasional (7.5%) Occasional (29-5%) HP:0009928
8 sparse eyelashes 56 32 occasional (7.5%) Occasional (29-5%) HP:0000653
9 malar flattening 56 32 occasional (7.5%) Occasional (29-5%) HP:0000272
10 macroorchidism 56 32 occasional (7.5%) Occasional (29-5%) HP:0000053
11 bifid nose 56 32 occasional (7.5%) Occasional (29-5%) HP:0011803
12 delayed speech and language development 56 32 very rare (1%) Occasional (29-5%) HP:0000750
13 deviated nasal septum 56 32 occasional (7.5%) Occasional (29-5%) HP:0004411
14 hypoplasia of dental enamel 56 32 frequent (33%) Frequent (79-30%) HP:0006297
15 scoliosis 32 very rare (1%) HP:0002650
16 strabismus 32 very rare (1%) HP:0000486
17 cognitive impairment 32 very rare (1%) HP:0100543
18 low-set ears 32 very rare (1%) HP:0000369
19 coarse facial features 32 very rare (1%) HP:0000280
20 hypertelorism 32 very rare (1%) HP:0000316
21 macrocephaly 32 very rare (1%) HP:0000256
22 pes cavus 32 very rare (1%) HP:0001761
23 joint hypermobility 32 very rare (1%) HP:0001382
24 pectus excavatum 32 very rare (1%) HP:0000767
25 tall stature 32 very rare (1%) HP:0000098
26 facial asymmetry 32 very rare (1%) HP:0000324
27 muscular hypotonia 32 very rare (1%) HP:0001252
28 broad neck 32 very rare (1%) HP:0000475
29 axillary freckling 32 very rare (1%) HP:0000997
30 hearing impairment 32 very rare (1%) HP:0000365
31 overgrowth 32 HP:0001548
32 large hands 32 very rare (1%) HP:0001176
33 attention deficit hyperactivity disorder 32 very rare (1%) HP:0007018
34 neurofibromas 32 HP:0001067
35 plexiform neurofibroma 32 very rare (1%) HP:0009732
36 inguinal freckling 32 HP:0030052
37 optic glioma 32 very rare (1%) HP:0009734
38 neurofibrosarcoma 32 very rare (1%) HP:0100697
39 lisch nodules 32 very rare (1%) HP:0009737
40 abnormality of dental enamel 56 Frequent (79-30%)
41 specific learning disability 32 very rare (1%) HP:0001328
42 bone cyst 32 very rare (1%) HP:0012062
43 abnormality of cardiovascular system morphology 32 very rare (1%) HP:0030680
44 sparse eyebrow 56 Occasional (29-5%)
45 abnormal heart morphology 32 HP:0001627
46 long foot 32 very rare (1%) HP:0001833
47 cafe-au-lait spot 32 very rare (1%) HP:0000957
48 sparse and thin eyebrow 32 occasional (7.5%) HP:0000535
49 spinal neurofibromas 32 very rare (1%) HP:0009735
50 focal t2 hyperintense basal ganglia lesion 32 very rare (1%) HP:0007183

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:

id 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:

39
Bone, Heart, Skin, Brain, Eye

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

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
id 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:

id 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
16 ExPASy
18 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
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42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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