loading...| Preferred Name |
Neurofibromatosis 1 |
| Synonyms |
von Recklinghausen Disease |
| Definitions |
An autosomal dominant inherited disorder (with a high frequency of spontaneous mutations) that features developmental changes in the nervous system, muscles, bones, and skin, most notably in tissue derived from the embryonic NEURAL CREST. Multiple hyperpigmented skin lesions and subcutaneous tumors are the hallmark of this disease. Peripheral and central nervous system neoplasms occur frequently, especially OPTIC NERVE GLIOMA and NEUROFIBROSARCOMA. NF1 is caused by mutations which inactivate the NF1 gene (GENES, NEUROFIBROMATOSIS 1) on chromosome 17q. The incidence of learning disabilities is also elevated in this condition. (From Adams et al., Principles of Neurology, 6th ed, pp1014-18) There is overlap of clinical features with NOONAN SYNDROME in a syndrome called neurofibromatosis-Noonan syndrome. Both the PTPN11 and NF1 gene products are involved in the SIGNAL TRANSDUCTION pathway of Ras (RAS PROTEINS). |
| ID |
http://purl.bioontology.org/ontology/MESH/D009456 |
| altLabel |
von Recklinghausen Disease Neurofibromatoses, Type I Type I Neurofibromatoses Recklinghausen's Disease of Nerve Syndrome, Watson Neurofibromatosis, Peripheral Type Neurofibromatosis, Peripheral Neurofibromatosis, Peripheral, NF1 Recklinghausen Disease, Nerve Molluscum Fibrosum Neurofibromatosis I Neurofibromatosis Type 1 Recklinghausens Disease of Nerve Recklinghausen Disease of Nerve Peripheral Neurofibromatoses Cafe au Lait Spots with Pulmonic Stenosis Neurofibromatosis Type I von Recklinghausen's Disease Pulmonic Stenosis with Cafe-au-Lait Spots Pulmonic Stenosis with Cafe au Lait Spots Watson Syndrome Neurofibromatosis, Type 1 von Recklinghausens Disease Neurofibromatoses, Peripheral Neurofibromatosis, Peripheral, NF 1 Type 1, Neurofibromatosis Neurofibromatosis, Type I NF1 (Neurofibromatosis 1) Cafe-au-Lait Spots with Pulmonic Stenosis Type I, Neurofibromatosis Peripheral Neurofibromatosis Type 1 Neurofibromatosis |
| AN |
do not confuse with NEUROFIBROMATOSIS 2; coord IM with precoord organ/neopl term (IM) if relevant |
| AQL |
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI |
| cui |
C0553586 C0027831 |
| DC |
1 |
| definition |
An autosomal dominant inherited disorder (with a high frequency of spontaneous mutations) that features developmental changes in the nervous system, muscles, bones, and skin, most notably in tissue derived from the embryonic NEURAL CREST. Multiple hyperpigmented skin lesions and subcutaneous tumors are the hallmark of this disease. Peripheral and central nervous system neoplasms occur frequently, especially OPTIC NERVE GLIOMA and NEUROFIBROSARCOMA. NF1 is caused by mutations which inactivate the NF1 gene (GENES, NEUROFIBROMATOSIS 1) on chromosome 17q. The incidence of learning disabilities is also elevated in this condition. (From Adams et al., Principles of Neurology, 6th ed, pp1014-18) There is overlap of clinical features with NOONAN SYNDROME in a syndrome called neurofibromatosis-Noonan syndrome. Both the PTPN11 and NF1 gene products are involved in the SIGNAL TRANSDUCTION pathway of Ras (RAS PROTEINS). A syndrome characterized by the presence of PULMONARY STENOSIS; CAFE-AU-LAIT SPOTS; MENTAL RETARDATION; and short stature caused by mutations in the NF1 gene (GENES, NEUROFIBROMATOSIS 1). |
| DX |
19920101 |
| FX |
D009634 D016514 D044542 D025542 |
| HN |
1992(1966); for NEUROFIBROMATOSIS, PERIPHERAL, NF1 use NEUROFIBROMATOSIS 1989-1991 |
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000401 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000523 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000652 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000209 |
| Inverse of RO |
http://purl.bioontology.org/ontology/MESH/D025542 http://purl.bioontology.org/ontology/MESH/D044542 |
| Inverse of SIB |
http://purl.bioontology.org/ontology/MESH/D011843 http://purl.bioontology.org/ontology/MESH/D059348 http://purl.bioontology.org/ontology/MESH/D053421 http://purl.bioontology.org/ontology/MESH/D020386 http://purl.bioontology.org/ontology/MESH/D016518 http://purl.bioontology.org/ontology/MESH/D000170 http://purl.bioontology.org/ontology/MESH/D000699 http://purl.bioontology.org/ontology/MESH/D056768 http://purl.bioontology.org/ontology/MESH/D017772 http://purl.bioontology.org/ontology/MESH/D020275 http://purl.bioontology.org/ontology/MESH/D020422 http://purl.bioontology.org/ontology/MESH/D020918 http://purl.bioontology.org/ontology/MESH/D010524 http://purl.bioontology.org/ontology/MESH/D009408 http://purl.bioontology.org/ontology/MESH/D052958 http://purl.bioontology.org/ontology/MESH/D009443 http://purl.bioontology.org/ontology/MESH/D003929 http://purl.bioontology.org/ontology/MESH/D011115 http://purl.bioontology.org/ontology/MESH/D020516 |
| Machine permutation |
1992; see NEUROFIBROMATOSIS 1966-91; for NEUROFIBROMATOSIS, PERIPHERAL, NF1 see NEUROFIBROMATOSIS 1989-1991 |
| MDA |
19990101 |
| MMR |
20180629 |
| MN |
C10.668.829.675 C16.320.700.633.650 C10.574.500.549.400 C04.557.580.600.580.590.650 C04.700.631.650 C16.320.400.560.400 C10.562.600.500 |
| notation |
D009456 |
| prefLabel |
Neurofibromatosis 1 |
| TERMUI |
T028173 T371060 T371057 T371061 T028175 T431505 T028177 T841796 T028179 T028180 T769793 T371059 T371063 T371062 T028174 T842127 T028178 T811774 T028176 T769792 T371058 |
| TH |
NLM (2011) UNK (19XX) NLM (1992) NLM (2002) NLM (2000) NLM (1966) NLM (2014) ORD (2010) OMIM (2013) GHR (2014) |
| tui |
T191 T047 |
| subClassOf |