Neurofibromatosis, Familial Spinal

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

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).

Genes related to Neurofibromatosis, Familial Spinal

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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.

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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 Panel complete gene list RIT1, RRAS, BRAF, SOS1, SOS2, CBL, SHOC2, KAT6B, SPRED1, A2ML1, CABIN1, NSUN2, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NF2, NRAS, PTPN11, RAF1, RASA2 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 %

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Sources and references

You can check the following sources for additional information.

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