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GTR Home > Conditions/Phenotypes > Neurofibromatosis, type 1

Neurofibromatosis, type 1

Synonyms
NEUROFIBROMATOSIS, TYPE I; NEUROFIBROMATOSIS, TYPE I, SOMATIC; Peripheral type neurofibromatosis; Recklinghausen's disease; Von Recklinghausen disease
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Excerpted from the GeneReview: Neurofibromatosis 1
Neurofibromatosis 1 (NF1) is a multisystem disorder characterized by multiple café au lait macules, intertriginous freckling, multiple cutaneous neurofibromas, and learning disability or behavior problems. About half of people with NF1 have plexiform neurofibromas, but most are internal and not suspected clinically. Plexiform neurofibromas can cause pain, neurologic deficits, and abnormalities of involved or adjacent structures. Less common but potentially more serious manifestations include optic nerve and other central nervous system gliomas, malignant peripheral nerve sheath tumors, scoliosis, tibial dysplasia, vasculopathy, and gastrointestinal, endocrine, or pulmonary disease.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Jan M Friedman
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Available tests

212 tests are in the database for this condition.

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Clinical tests (211 available)

Molecular Genetics Tests

Research tests

Genes See tests for all associated and related genes

  • Also known as: NFNS, VRNF, WSS, NF1
    Summary: neurofibromin 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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