Neurofibromatosis type 1 due to NF1mutation or intragenic deletion

General Information (adopted from Orphanet):

Synonyms, Signs: VON RECKLINGHAUSEN DISEASE
NEUROFIBROMATOSIS, PERIPHERAL TYPE
NF1
Von Recklinghausen disease due to NF1 mutation or intragenic deletion
Number of Symptoms 43
OrphanetNr: 363700
OMIM Id: 162200
ICD-10: Q85.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[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

Symptom Information: Sort by abundance 

1
(HPO:0001920) Renal artery stenosis 1.5000 % [HPO] 5 / 7739
2
(HPO:0000316) Hypertelorism 644 / 7739
3
(HPO:0000256) Macrocephaly 298 / 7739
4
(HPO:0000501) Glaucoma 0.7000 % [HPO] 180 / 7739
5
(HPO:0009737) Lisch nodules 95.0000 % [HPO] 10 / 7739
6
(HPO:0001328) Specific learning disability 30.0000 % [HPO] 114 / 7739
7
(HPO:0001067) Neurofibromas 7 / 7739
8
(HPO:0009734) Optic glioma 1.5000 % [HPO] 7 / 7739
9
(HPO:0002666) Pheochromocytoma 1.0000 % [HPO] 9 / 7739
10
(HPO:0002521) Hypsarrhythmia 1.5000 % [HPO] 43 / 7739
11
(HPO:0009732) Plexiform neurofibroma 30.0000 % [HPO] 3 / 7739
12
(HPO:0009735) Spinal neurofibromas 1.5000 % [HPO] 3 / 7739
13
(HPO:0001256) Intellectual disability, mild 141 / 7739
14
(HPO:0009592) Astrocytoma 15 / 7739
15
(HPO:0001250) Seizures 4.0000 % [HPO] 1245 / 7739
16
(HPO:0002858) Meningioma 1.0000 % [HPO] 22 / 7739
17
(HPO:0002897) Parathyroid adenoma 5 / 7739
18
(HPO:0002650) Scoliosis 5.0000 % [HPO] 705 / 7739
19
(HPO:0009736) Tibial pseudoarthrosis 4.0000 % [HPO] 1 / 7739
20
(HPO:0005864) Pseudoarthrosis 3 / 7739
21
(HPO:0002857) Genu valgum 1.5000 % [HPO] 144 / 7739
22
(HPO:0002414) Spina bifida 47 / 7739
23
(HPO:0001548) Overgrowth 27 / 7739
24
(HPO:0004322) Short stature 31.0000 % [HPO] 1232 / 7739
25
(HPO:0000997) Axillary freckling 9 / 7739
26
(HPO:0000957) Cafe-au-lait spot 100.0000 % [HPO] 84 / 7739
27
(HPO:0000822) Hypertension 224 / 7739
28
(HPO:0002859) Rhabdomyosarcoma 10 / 7739
29
(HPO:0100697) Neurofibrosarcoma 5 / 7739
30
(HPO:0030052) Inguinal freckling 3 / 7739
31
(HPO:0002410) Aqueductal stenosis 1.5000 % [HPO] 19 / 7739
32
(OMIM) Pilocytic astrocytoma 1 / 7739
33
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
34
(OMIM) Sphenoid dysplasia 1 / 7739
35
(OMIM) Mental retardation, 30% learning disabilities, 10% mild mental retardation 1 / 7739
36
(HPO:0000238) Hydrocephalus 278 / 7739
37
(OMIM) Tumors at multiple other sites including CNS 1 / 7739
38
(OMIM) Local bony overgrowth 1 / 7739
39
(MedDRA:10041329) Somatostatinoma 1 / 7739
40
(OMIM) Inguinal freckling 4 / 7739
41
(OMIM) Duodenal carcinoid 1 / 7739
42
(OMIM) Hypothalamic tumor 1 / 7739
43
(OMIM) Thinning of long bone cortex 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Neurofibromatosis type I is an autosomal dominant disorder characterized by cafe-au-lait spots, Lisch nodules in the eye, and fibromatous tumors of the skin. Individuals with the disorder have increased susceptibility to the development of benign and malignant tumors. ...
Diagnosis OMIM Based on the 1988 National Institutes of Health Consensus Development Conference on Neurofibromatosis, the diagnosis of NF1 is made in an individual with any 2 of the following clinical features: (1) 6 or more cafe-au-lait spots, (2) axillary ...
Clinical Description OMIM Sorensen et al. (1986) conducted a valuable follow-up study of the natural history of NF1 in a nationwide cohort of 212 patients with the disorder identified in Denmark by Borberg (1951). Malignant neoplasms or benign CNS tumors occurred ...
Molecular genetics OMIM - Germline Mutations in the NF1 Gene

Wallace et al. (1990) identified a large transcript from the candidate NF1 region on chromosome 17q11.2 that was disrupted in 3 patients with NF1. Two of the patients had ...

Population genetics OMIM Littler and Morton (1990) reviewed data from 4 studies on NF1, with the following results: the carrier incidence at birth was 0.0004; the gene frequency was 0.0002; and the proportion of cases due to fresh mutation was 0.56. ...