Term ID: |
1067 |
Name: |
Neurofibromas |
Synonym: |
multiple neurofibromas; Neurofibromata; Neurofibromatosis |
Definition: |
The presence of multiple cutaneous neurofibromas. |
Comments: |
|
Reference: |
HP:0001067 |
Genes and Diseases: | |
Child Nodes: |
........Multiple intestinal neurofibromatosis (HP:0005220) |
........Paraspinal neurofibromas (HP:0006751) |
........Atypical neurofibromatosis (HP:0007524) |
........Palmar neurofibromas (HP:0007576) |
........Occasional neurofibromas (HP:0009595) |
........Plexiform neurofibroma (HP:0009732) |
........Spinal neurofibromas (HP:0009735) ................... HP:0006851 Symmetric spinal nerve root neurofibromas |
........Subcutaneous neurofibromas (HP:0100698) |
Sister Nodes: |
..Acanthoma (HP:0025432)
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..Actinic keratosis (HP:0025127)
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..Adenoma sebaceum (HP:0009720)
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..Basal cell carcinoma (HP:0002671)
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..Cutaneous angiolipomas (HP:0006773)
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..Cutaneous leiomyoma (HP:0007620)
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..Cutaneous leiomyosarcoma (HP:0006755)
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..Cutaneous mastocytosis (HP:0200151)
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..Cutaneous melanoma (HP:0012056)
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..Cutaneous myxoma (HP:0030428)
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..Eccrine syringofibroadenoma (HP:0031018)
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..Fibrofolliculoma (HP:0030436)
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..Frontal cutaneous lipoma (HP:0007541)
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..Kaposi's sarcoma (HP:0100726)
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..Keratoacanthoma (HP:0031525)
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..Lymphocytoma cutis (HP:0031549)
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..Merkel cell skin cancer (HP:0030447)
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..Multiple cutaneous leiomyomas (HP:0007437)
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..Multiple cutaneous malignancies (HP:0007606)
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..Myxoid subcutaneous tumors (HP:0006769)
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..Papilloma (HP:0012740)
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..Peripheral Schwannoma (HP:0009593)
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..Seborrheic keratosis (HP:0031287)
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..Skin appendage neoplasm (HP:0012842)
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..Squamous cell carcinoma (HP:0002860)
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..Steatocystoma multiplex (HP:0012035)
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..Subcutaneous lipoma (HP:0001031)
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Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: | HPO disease - gene - phenotype less frequent non-typical associations: | HP:0001067 | HP:0001067 | Neurofibromas | 0 | AKT1 CL E G H | 207 | 391 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 54 | | | HP:0001067 | HP:0001067 | Neurofibromas | 0 | BAP1 CL E G H | 8314 | 950 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 184 | | | HP:0001067 | HP:0001067 | Neurofibromas | 0 | KIT CL E G H | 3815 | 6342 | OMIM:606764 | Gastrointestinal stromal tumor | . | | | 327 | | | HP:0001067 | HP:0001067 | Neurofibromas | 0 | LRP1 CL E G H | 4035 | 6692 | ORPHA:79100 | Atrophoderma vermiculata | HP:0040283 - Occasional | | | 4 | | | HP:0001067 | HP:0001067 | Neurofibromas | 0 | MLH1 CL E G H | 4292 | 7127 | OMIM:276300 | Mismatch repair cancer syndrome 1 | | | | 1819 | | | HP:0001067 | HP:0001067 | Neurofibromas | 0 | NF1 CL E G H | 4763 | 7765 | ORPHA:97685 | 17q11 microdeletion syndrome | | | | 1952 | | | HP:0001067 | HP:0001067 | Neurofibromas | 0 | NF1 CL E G H | 4763 | 7765 | ORPHA:363700 | Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion | | | | 1952 | | | HP:0001067 | HP:0001067 | Neurofibromas | 0 | NF1 CL E G H | 4763 | 7765 | OMIM:162210 | Neurofibromatosis, familial spinal | | | | 1952 | | | HP:0001067 | HP:0001067 | Neurofibromas | 0 | NF1 CL E G H | 4763 | 7765 | OMIM:162200 | Neurofibromatosis, type I | | | | 1952 | | | HP:0001067 | HP:0001067 | Neurofibromas | 0 | NF1 CL E G H | 4763 | 7765 | OMIM:601321 | Neurofibromatosis-Noonan syndrome | | | | 1952 | | | HP:0001067 | HP:0001067 | Neurofibromas | 0 | NF1 CL E G H | 4763 | 7765 | OMIM:193520 | Watson syndrome | . | | | 1952 | | | HP:0001067 | HP:0001067 | Neurofibromas | 0 | NF2 CL E G H | 4771 | 7773 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 220 | | | HP:0001067 | HP:0001067 | Neurofibromas | 0 | NF2 CL E G H | 4771 | 7773 | OMIM:101000 | Neurofibromatosis, type II | | | | 220 | | | HP:0001067 | HP:0001067 | Neurofibromas | 0 | PDGFB CL E G H | 5155 | 8800 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 9 | | | HP:0001067 | HP:0001067 | Neurofibromas | 0 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 162 | | | HP:0001067 | HP:0001067 | Neurofibromas | 0 | SDHB CL E G H | 6390 | 10681 | OMIM:606764 | Gastrointestinal stromal tumor | . | | | 237 | | | HP:0001067 | HP:0001067 | Neurofibromas | 0 | SDHC CL E G H | 6391 | 10682 | OMIM:606764 | Gastrointestinal stromal tumor | . | | | 147 | | | HP:0001067 | HP:0001067 | Neurofibromas | 0 | SMARCB1 CL E G H | 6598 | 11103 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 87 | | | HP:0001067 | HP:0001067 | Neurofibromas | 0 | SMARCE1 CL E G H | 6605 | 11109 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 47 | | | HP:0001067 | HP:0001067 | Neurofibromas | 0 | SMO CL E G H | 6608 | 11119 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 22 | | | HP:0001067 | HP:0001067 | Neurofibromas | 0 | SPRED1 CL E G H | 161742 | 20249 | OMIM:611431 | Legius syndrome | . | | | 136 | | | HP:0001067 | HP:0001067 | Neurofibromas | 0 | SPTBN1 CL E G H | 6711 | 11275 | OMIM:619475 | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA | | | | | | | HP:0001067 | HP:0001067 | Neurofibromas | 0 | SUFU CL E G H | 51684 | 16466 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 124 | | | HP:0001067 | HP:0001067 | Neurofibromas | 0 | TERT CL E G H | 7015 | 11730 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 238 | | | HP:0001067 | HP:0001067 | Neurofibromas | 0 | TRAF7 CL E G H | 84231 | 20456 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | | | | HP:0001067 | HP:0007576 | Palmar neurofibromas | 1 | CL E G H | | | | | | | | | | | HP:0001067 | HP:0006751 | Paraspinal neurofibromas | 1 | CL E G H | | | | | | | | | | | HP:0001067 | HP:0005220 | Multiple intestinal neurofibromatosis | 1 | CL E G H | | | | | | | | | | | HP:0001067 | HP:0009732 | Plexiform neurofibroma | 1 | MLH1 CL E G H | 4292 | 7127 | OMIM:276300 | Mismatch repair cancer syndrome 1 | | | | 1819 | | | HP:0001067 | HP:0009732 | Plexiform neurofibroma | 1 | NF1 CL E G H | 4763 | 7765 | ORPHA:97685 | 17q11 microdeletion syndrome | HP:0040282 - Frequent | | | 1952 | | | HP:0001067 | HP:0007524 | Atypical neurofibromatosis | 1 | NF1 CL E G H | 4763 | 7765 | ORPHA:97685 | 17q11 microdeletion syndrome | HP:0040283 - Occasional | | | 1952 | | | HP:0001067 | HP:0100698 | Subcutaneous neurofibromas | 1 | NF1 CL E G H | 4763 | 7765 | ORPHA:363700 | Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion | HP:0040282 - Frequent | | | 1952 | | | HP:0001067 | HP:0009735 | Spinal neurofibromas | 1 | NF1 CL E G H | 4763 | 7765 | ORPHA:363700 | Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion | HP:0040283 - Occasional | | | 1952 | | | HP:0001067 | HP:0009732 | Plexiform neurofibroma | 1 | NF1 CL E G H | 4763 | 7765 | OMIM:162210 | Neurofibromatosis, familial spinal | | | | 1952 | | | HP:0001067 | HP:0009735 | Spinal neurofibromas | 1 | NF1 CL E G H | 4763 | 7765 | OMIM:162210 | Neurofibromatosis, familial spinal | | | | 1952 | | | HP:0001067 | HP:0009732 | Plexiform neurofibroma | 1 | NF1 CL E G H | 4763 | 7765 | OMIM:162200 | Neurofibromatosis, type I | | | | 1952 | | | HP:0001067 | HP:0009735 | Spinal neurofibromas | 1 | NF1 CL E G H | 4763 | 7765 | OMIM:162200 | Neurofibromatosis, type I | | | | 1952 | | | HP:0001067 | HP:0009732 | Plexiform neurofibroma | 1 | NF1 CL E G H | 4763 | 7765 | OMIM:601321 | Neurofibromatosis-Noonan syndrome | | | | 1952 | | | HP:0001067 | HP:0009595 | Occasional neurofibromas | 1 | NF2 CL E G H | 4771 | 7773 | OMIM:101000 | Neurofibromatosis, type II | HP:0040283 - Occasional | | | 220 | | | HP:0001067 | HP:0006851 | Symmetric spinal nerve root neurofibromas | 2 | NF1 CL E G H | 4763 | 7765 | OMIM:162210 | Neurofibromatosis, familial spinal | . | | | 1952 | | |
Genes (19) :AKT1 BAP1 KIT LRP1 MLH1 NF1 NF2 PDGFB PIK3CA SDHB SDHC SMARCB1 SMARCE1 SMO SPRED1 SPTBN1 SUFU TERT TRAF7
Diseases (13) :ORPHA:2495 OMIM:606764 ORPHA:79100 OMIM:276300 ORPHA:97685 ORPHA:363700 OMIM:162210 OMIM:162200 OMIM:601321 OMIM:193520 OMIM:101000 OMIM:611431 OMIM:619475 |
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.
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