17q11 microdeletion syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: NF1 MICRODELETION SYNDROME NF1 MICRODUPLICATION SYNDROME, INCLUDED
NEUROFIBROMATOSIS 1 MICRODELETION SYNDROME
Del(17)(q11)
NF1 microdeletion syndrome
Monosomy 17q11
Neurofibromatosis type 1 microdeletion syndrome
Number of Symptoms 50
OrphanetNr: 97685
OMIM Id: 613675
ICD-10: Q85.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
Sporadic
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Neurofibromatosis type 1
 -Rare circulatory system disease
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease
 -Rare neurologic disease
 -Rare oncologic disease
 -Rare renal disease
 -Rare skin disease
Partial deletion of the long arm of chromosome 17
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0000316) Hypertelorism 644 / 7739
2
(HPO:0009737) Lisch nodules 10 / 7739
3
(HPO:0009734) Optic glioma 7 / 7739
4
(HPO:0000098) Tall stature 74 / 7739
5
(HPO:0030680) Abnormality of cardiovascular system morphology 355 / 7739
6
(HPO:0001252) Muscular hypotonia 990 / 7739
7
(HPO:0008947) Infantile muscular hypotonia 482 / 7739
8
(HPO:0010547) Muscle flaccidity 466 / 7739
9
(HPO:0001324) Muscle weakness 859 / 7739
10
(HPO:0009732) Plexiform neurofibroma 3 / 7739
11
(HPO:0009735) Spinal neurofibromas 3 / 7739
12
(HPO:0100698) Subcutaneous neurofibromas 3 / 7739
13
(HPO:0007018) Attention deficit hyperactivity disorder 56 / 7739
14
(HPO:0001249) Intellectual disability 1089 / 7739
15
(HPO:0000750) Delayed speech and language development 197 / 7739
16
(HPO:0001822) Hallux valgus 70 / 7739
17
(HPO:0001765) Hammertoe 63 / 7739
18
(HPO:0001761) Pes cavus 225 / 7739
19
(HPO:0001763) Pes planus 176 / 7739
20
(HPO:0001838) Rocker bottom foot 85 / 7739
21
(HPO:0001230) Broad metacarpals 17 / 7739
22
(HPO:0001169) Broad palm 43 / 7739
23
(HPO:0001176) Large hands 43 / 7739
24
(HPO:0000256) Macrocephaly 298 / 7739
25
(HPO:0001355) Megalencephaly 39 / 7739
26
(HPO:0004482) Relative macrocephaly 44 / 7739
27
(HPO:0000767) Pectus excavatum 244 / 7739
28
(HPO:0000915) Pectus excavatum of inferior sternum 21 / 7739
29
(HPO:0002650) Scoliosis 705 / 7739
30
(HPO:0012062) Bone cyst 19 / 7739
31
(HPO:0000271) Abnormality of the face 108 / 7739
32
(HPO:0001999) Abnormal facial shape 169 / 7739
33
(HPO:0000280) Coarse facial features 189 / 7739
34
(HPO:0000324) Facial asymmetry 57 / 7739
35
(HPO:0000319) Smooth philtrum 72 / 7739
36
(HPO:0000957) Cafe-au-lait spot 84 / 7739
37
(HPO:0007429) Few cafe-au-lait spots 7 / 7739
38
(HPO:0000997) Axillary freckling 9 / 7739
39
(HPO:0007565) Multiple cafe-au-lait spots 11 / 7739
40
(HPO:0100697) Neurofibrosarcoma 5 / 7739
41
(HPO:0001548) Overgrowth 27 / 7739
42
(OMIM) Accelerated carpal bone age 2 / 7739
43
(OMIM) Attention difficulties (73%) 2 / 7739
44
(OMIM) Brain MRI shows T2-weighted hyperintensities (17%) 2 / 7739
45
(OMIM) Contiguous gene deletion syndrome 23 / 7739
46
(OMIM) Delayed cognitive development/learning disabilities (93%) 2 / 7739
47
(OMIM) Increased joint laxity (72%) 2 / 7739
48
(OMIM) Inguinal freckling 4 / 7739
49
(OMIM) Large feet 12 / 7739
50
(OMIM) Soft fleshy palms (50%) 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Kayes et al. (1994) reported 5 NF1 patients with deletions of chromosome 17q11.2 including the NF1 gene. All had mild facial dysmorphism, mental retardation, and/or learning disabilities. Five patients were remarkable for the large number of neurofibromas for ...
Molecular genetics OMIM About 5% of all patients with neurofibromatosis type I (NF1) have large deletions in 17q11.2 that include both the NF1 gene and its flanking regions. There are 3 main types of chromosome 17q11.2 deletions. The most common deletion ...