loading...| Preferred Name |
Neurofibromatosis 1 |
|
| Synonyms |
Neurofibromatoses, Peripheral |
|
| Definitions |
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). |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D009456 |
|
| altLabel |
Neurofibromatoses, Peripheral Type 1 Neurofibromatosis Neurofibromatosis, Type 1 Watson Syndrome Neurofibromatosis Type 1 Recklinghausen Disease of Nerve Type I, Neurofibromatosis Peripheral Neurofibromatoses Neurofibromatosis, Peripheral Type Peripheral Neurofibromatosis NF1 (Neurofibromatosis 1) Neurofibromatosis Type I Type 1, Neurofibromatosis Cafe au Lait Spots with Pulmonic Stenosis Neurofibromatosis, Type I Recklinghausen Disease, Nerve Neurofibromatoses, Type I von Recklinghausens Disease Neurofibromatosis, Peripheral, NF 1 Pulmonic Stenosis with Cafe au Lait Spots Type I Neurofibromatoses Molluscum Fibrosum Neurofibromatosis, Peripheral, NF1 Neurofibromatosis I Pulmonic Stenosis with Cafe-au-Lait Spots Syndrome, Watson Recklinghausens Disease of Nerve Cafe-au-Lait Spots with Pulmonic Stenosis Neurofibromatosis, Peripheral Recklinghausen's Disease of Nerve von Recklinghausen's Disease von Recklinghausen Disease |
|
| 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 |
C0027831 C0553586 |
|
| DC |
1 |
|
| definition |
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). 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). |
|
| DX |
19920101 |
|
| FX |
D044542 D016514 D025542 D009634 |
|
| HN |
1992(1966); for NEUROFIBROMATOSIS, PERIPHERAL, NF1 use NEUROFIBROMATOSIS 1989-1991 |
|
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
| Inverse of RO |
http://purl.bioontology.org/ontology/MESH/D009634 http://purl.bioontology.org/ontology/MESH/D016514 |
|
| Machine permutation |
1992; see NEUROFIBROMATOSIS 1966-91; for NEUROFIBROMATOSIS, PERIPHERAL, NF1 see NEUROFIBROMATOSIS 1989-1991 |
|
| MDA |
19990101 |
|
| MMR |
20180629 |
|
| MN |
C16.320.700.633.650 C10.574.500.549.400 C16.320.400.560.400 C10.668.829.675 C10.562.600.500 C04.700.631.650 C04.557.580.600.580.590.650 |
|
| notation |
D009456 |
|
| prefLabel |
Neurofibromatosis 1 |
|
| TERMUI |
T811774 T769792 T371062 T028177 T028175 T841796 T371063 T371058 T028173 T371060 T028179 T431505 T371059 T028176 T028174 T028180 T028178 T842127 T371061 T371057 T769793 |
|
| TH |
OMIM (2013) NLM (2002) NLM (2000) NLM (1966) NLM (1992) UNK (19XX) GHR (2014) NLM (2014) NLM (2011) ORD (2010) |
|
| tui |
T047 T191 |
|
| subClassOf |