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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease neurofibromatosis type 1
Comorbidity C0027831|von recklinghausen disease
Sentences 11
PubMedID- 22747746 Nf1, also known as von recklinghausen disease, is an autosomal dominant multisystem disorder that affects approximately 1 in 3500 people [5].
PubMedID- 20680620 neurofibromatosis type 1 (nf1), also known as von recklinghausen disease, involves the spine in 10% to 69% of patients [1, 2].
PubMedID- 24707252 neurofibromatosis type 1 (nf-1), which was previously known as von recklinghausen disease, is an autosomal dominant disorder linked to the proximal portion of the long arm of chromosome 17 that affects 1 in 3,000 individuals [1].
PubMedID- 21293068 Neurofibromatosis type i (nf-1), commonly known as von recklinghausen disease, is a human genetic disorder caused by a single gene.there is no racial, gender or age predilection for the development of oral neurofibromas in nf-1.1 nf-1 is a tumor disease that is caused by the malfunction of a gene on chromosome 17 that is responsible for control of cell division.
PubMedID- 22816062 Nf1 also known as von recklinghausen disease, is an autosomal dominant disorder that affects one in 3,000 live births [1].
PubMedID- 24473510 neurofibromatosis type 1 (nf1), also known as von recklinghausen disease, involves the spine in 26% to 50% of patients (1,2).
PubMedID- 20438631 Von recklinghausen disease, also known as neurofibromatosis 1 (nf1), is characterized by multiple cafe-au-lait spots in the skin, multiple peripheral nerve tumors, and a variety of other dysplastic abnormalities of the skin, nervous system, bones, endocrine organs, and blood vessels [1].
PubMedID- 26587103 Neurofibroma of the bladder is an extremely rare manifestation of neurofibromatosis type 1, or von recklinghausen disease, not typically seen in the ed.1,2 although the bladder is the most commonly affected site within the genitourinary system, there are less than 80 reported cases in the literature.2 as in our patient, neurofibroma of the bladder can lead to obstructive uropathy with hydronephrosis.3 here, we used bedside ultrasonography in the ed for evaluation of symptomatology, which led to the preliminary diagnosis of this rare manifestation, further captured by ct.
PubMedID- 21042513 neurofibromatosis type 1 (nf-1), previously known as von recklinghausen disease, is a phakomatosis or neurocutaneous syndrome with autosomal-dominant inheritance, primarily affecting the development and growth of nerve cell tissues, with a frequency of approximately 1 in 3,000 births.
PubMedID- 22493760 Nf1, also known as von recklinghausen disease, is an autosomal dominant disorder that results from germ-line mutations in the nf1 gene located at chromosome 17q11.2 [4].
PubMedID- 24499455 The tumor typically presents either as a localized lesion or as part of a generalized syndrome of neurofibromatosis generally known as neurofibromatosis type-1 (nf1) or von recklinghausen disease of the skin which is associated with somatic mutations at the nf1 gene, a tumor suppressor gene located in the pericentromeric region of chromosome 17 [9].

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