Neurofibromatosis, Familial Spinal
Description
Spinal neurofibromatosis is an autosomal dominant disorder characterized by a high load of spinal tumors. These tumors may be asymptomatic or result in neurologic symptoms, including back pain, difficulty walking, and paresthesias. Spinal NF is considered to be a subtype of neurofibromatosis type I (NF1 ), which is an allelic disorder. Patients with spinal NF may or may not have the classic cutaneous cafe-au-lait pigmentary macules or ocular Lisch nodules typically observed in patients with classic NF1. Patients with spinal NF should be followed closely for spinal sequelae (summary by Burkitt Wright et al., 2013).
Clinical Features
Top most frequent phenotypes and symptoms related to Neurofibromatosis, Familial Spinal
- Intellectual disability
- Scoliosis
- Neoplasm
- Pain
- Difficulty walking
- Lower limb muscle weakness
- Paresthesia
- Cafe-au-lait spot
- Paraparesis
- Spastic paraparesis
And another 12 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Alternative names
Neurofibromatosis, Familial Spinal Is also known as fsnf.
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.Neurofibromatosis, Familial Spinal Recommended genes panels
| Panel Name, Specifity and genes Tested/covered |
|---|
 Neurofibromatosis Type 1 Deletion Test.
By Athena Diagnostics Inc (United States).
NF1
Specificity
100 %
Genes
100 % |
|
Neurofibromatosis Type 1 (NF1) Evaluation.
By Athena Diagnostics Inc (United States).
NF1
Specificity
100 %
Genes
100 % |
|
Neurofibromatosis Type 1 DNA Sequencing Test.
By Athena Diagnostics Inc (United States).
NF1
Specificity
100 %
Genes
100 % |
|
NGS RASopathy Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
RIT1, RRAS, BRAF, SOS1, SOS2, CBL, SHOC2, KAT6B, SPRED1, A2ML1, CABIN1, NSUN2, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NF2, NRAS , (...)
View the complete list with 3 more genes
Specificity
5 %
Genes
100 % |
|
Neurofibromatosis Syndrome Type 1.
By Center for Human Genetics, Inc (United States).
NF1
Specificity
100 %
Genes
100 % |
|
Neurofibromatosis-Noonan syndrome.
By Center for Human Genetics, Inc (United States).
NF1
Specificity
100 %
Genes
100 % |
|
Neurofibromatosis 1 Sequencing.
By Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital (United States).
NF1
Specificity
100 %
Genes
100 % |
|
Neurofibromatosis 1 Deletion/Duplication analysis.
By Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital (United States).
NF1
Specificity
100 %
Genes
100 % |
You can get up to 272 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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