Disease #00439

Official abbreviation NF-1
Name neurofibromatosis, type 1 (NF-1)
OMIM ID 162200
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 3731
Phenotype entries for this disease 3646
Associated with 1 gene NF1
Associated tissues -
Disease features -
Remarks -


Individuals

3731 entries on 38 pages. Showing entries 1 - 100.
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AscendingIndividual ID     
ID_report     
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Consanguinity     
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Population     
Age/Death     
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Data_av     
Treatment     
Disease     
Phenotype details     
Genes screened
Variants in genes
Variants     
Panel size     
Owner     
00016860 ID44 - NF1 patient F ? (Germany) - ? 0 - - NF-1 - AZI1, HMCN1, NF1 AZI1, HMCN1, NF1 8 1 Denise Emmerich
00019821 - PubMed: Elsayed 2015, Journal: Elsayed 2015 - M - Netherlands - - 0 - - CRC, NF-1 30y MSI caecum adenocarcinoma; 15y astrocytoma, presumably as a consequence of neurofibromatosis POLE POLE 1 1 Tom van Wezel
00019904 1 - - M - Italy Caucasian - 0 - - NF-1 Café-au-lait spots, freckling, macrocephaly, pectus excavatum NF1 NF1 1 1 Alessandro De Luca
00019941 2 - - M - Italy Caucasian - 0 - - NF-1 Café-au-lait spots, freckling, pectus excavatum, scapular winging, scoliosis, ptosis, triangular face, close palate, low set posteriorly rotated ears, mild joint laxity, skin hyperelasticity, easy extensibility of the ears, flat feet, celiac disease, narrowing of the peripheral nasal visual field NF1 NF1 1 1 Alessandro De Luca
00019942 3 - - F - Italy Caucasian - 0 - - NF-1 Café-au-lait spots, freckling, macrocephaly, pectus excavatum, hypertelorism, low set posteriorly rotated ears, short neck NF1 NF1 1 1 Alessandro De Luca
00019943 F4,II:2 - - F - Italy Caucasian - 0 - - NF-1 Café-au-lait spots, freckling, short stature, low set ears, ptosis NF1 NF1 1 1 Alessandro De Luca
00019944 F4,III:1 - - M - Italy Caucasian - 0 - - NF-1 Café-au-lait spots, low set ears, hypertelorism NF1 NF1 1 1 Alessandro De Luca
00019945 F5,II:3 - - M - Italy Caucasian - 0 - - NF-1 Café-au-lait spots, freckling NF1 NF1 1 1 Alessandro De Luca
00019946 F5,III:2 - - F - Italy Caucasian - 0 - - NF-1 Café-au-lait spots, freckling NF1 NF1 1 1 Alessandro De Luca
00019947 F5,III:7 - - F - Italy Caucasian - 0 - - NF-1 Café-au-lait spots, freckling NF1 NF1 1 1 Alessandro De Luca
00019948 F6,II:2 - - F - Italy Caucasian - 0 - - NF-1 Café-au-lait spots, freckling, scoliosis NF1 NF1 1 1 Alessandro De Luca
00080832 Ind040 Trujillano et al., submitted unaffected heterozygous carrier mother, father not available - - - - - 0 - - NF-1 Neurofibromatosis type 1 (OMIM:162200) NF1 NF1 1 1 Daniel Trujillano
00081028 Ind236 Trujillano et al., submitted unaffected non-carrier parents - - - - - 0 - - NF-1 Neurofibromatosis, type 1 (OMIM:162200) NF1 NF1 1 1 Daniel Trujillano
00100498 14066 - - - - Germany - - 0 - - NF-1 - NF1 NF1 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00100499 14087 - - - - Germany - - 0 - - NF-1 - NF1 NF1 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00103208 13938 - - - - Germany - - 0 - - NF-1 - NF1 NF1 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00106531 14814 - - - - Germany - - 0 - - NF-1 - NF1 NF1 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00119076 14791 - - - - Germany - - 0 - - NF-1 - NF1 NF1 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00128494 Rotterdam 24556 - - - - (Netherlands) - - 0 - - NF-1 - NF1 NF1 1 1 Rick van Minkelen
00128495 Rotterdam 22375 - - - - (Netherlands) - - 0 - - NF-1 - NF1 NF1 1 1 Rick van Minkelen
00128496 Rotterdam 26839 - - - - (Netherlands) - - 0 - - NF-1 - NF1 NF1 1 1 Rick van Minkelen
00128497 Rotterdam 32066 - - - - (Netherlands) - - 0 - - NF-1 - NF1 NF1 1 1 Rick van Minkelen
00128498 Rotterdam 29917 - - - - (Netherlands) - - 0 - - NF-1 - NF1 NF1 1 1 Rick van Minkelen
00128499 Rotterdam 46936 - - - - (Netherlands) - - 0 - - NF-1 - NF1 NF1 1 1 Rick van Minkelen
00128500 Rotterdam 17384 - - - - (Netherlands) - - 0 - - NF-1 - NF1 NF1 1 1 Rick van Minkelen
00128501 Rotterdam 43760 - - - - (Netherlands) - - 0 - - NF-1 - NF1 NF1 1 1 Rick van Minkelen
00128502 Rotterdam 3244 - - - - (Netherlands) - - 0 - - NF-1 - NF1 NF1 1 1 Rick van Minkelen
00128503 Rotterdam 3717 - - - - (Netherlands) - - 0 - - NF-1 - NF1 NF1 1 1 Rick van Minkelen
00128504 Rotterdam 3724 - - - - (Netherlands) - - 0 - - NF-1 - NF1 NF1 1 1 Rick van Minkelen
00128505 Rotterdam 5589 - - - - (Netherlands) - - 0 - - NF-1 - NF1 NF1 1 1 Rick van Minkelen
00128506 Rotterdam 5635 - - - - (Netherlands) - - 0 - - NF-1 - NF1 NF1 1 1 Rick van Minkelen
00128507 Rotterdam 6387 - - - - (Netherlands) - - 0 - - NF-1 - NF1 NF1 1 1 Rick van Minkelen
00128508 Rotterdam 7988 - - - - (Netherlands) - - 0 - - NF-1 - NF1 NF1 1 1 Rick van Minkelen
00128509 Rotterdam 9304 - - - - (Netherlands) - - 0 - - NF-1 - NF1 NF1 1 1 Rick van Minkelen
00128510 Rotterdam 9634 - - - - (Netherlands) - - 0 - - NF-1 - NF1 NF1 1 1 Rick van Minkelen
00128511 Rotterdam 10216 - - - - (Netherlands) - - 0 - - NF-1 - NF1 NF1 1 1 Rick van Minkelen
00128512 Rotterdam 11055 - - - - (Netherlands) - - 0 - - NF-1 - NF1 NF1 1 1 Rick van Minkelen
00128513 Rotterdam 15411 - - - - (Netherlands) - - 0 - - NF-1 - NF1 NF1 1 1 Rick van Minkelen
00128514 Rotterdam 19578 - - - - (Netherlands) - - 0 - - NF-1 - NF1 NF1 1 1 Rick van Minkelen
00128515 Rotterdam 43757 - - - - (Netherlands) - - 0 - - NF-1 - NF1 NF1 1 1 Rick van Minkelen
00128516 Rotterdam 35996 - - - - (Netherlands) - - 0 - - NF-1 - NF1 NF1 1 1 Rick van Minkelen
00128517 Rotterdam 37749 - - - - (Netherlands) - - 0 - - NF-1 - NF1 NF1 1 1 Rick van Minkelen
00128518 Rotterdam 12145 - - - - (Netherlands) - - 0 - - NF-1 - NF1 NF1 1 1 Rick van Minkelen
00128519 Rotterdam 16620 - - - - (Netherlands) - - 0 - - NF-1 - NF1 NF1 1 1 Rick van Minkelen
00128520 Rotterdam 24161 - - - - (Netherlands) - - 0 - - NF-1 - NF1 NF1 1 1 Rick van Minkelen
00128521 Rotterdam 24430 - - - - (Netherlands) - - 0 - - NF-1 - NF1 NF1 1 1 Rick van Minkelen
00128522 Rotterdam 52797 - - - - (Netherlands) - - 0 - - NF-1 - NF1 NF1 1 1 Rick van Minkelen
00128523 Rotterdam 52808 - - - - (Netherlands) - - 0 - - NF-1 - NF1 NF1 1 1 Rick van Minkelen
00128524 Rotterdam 35255 - - - - (Netherlands) - - 0 - - NF-1 - NF1 NF1 1 1 Rick van Minkelen
00128525 Rotterdam 5218 - - - - (Netherlands) - - 0 - - NF-1 - NF1 NF1 1 1 Rick van Minkelen
00128526 Rotterdam 25218 - - - - (Netherlands) - - 0 - - NF-1 - NF1 NF1 1 1 Rick van Minkelen
00128527 Rotterdam 47857 - - - - (Netherlands) - - 0 - - NF-1 - NF1 NF1 1 1 Rick van Minkelen
00128528 Rotterdam 36940 - - - - (Netherlands) - - 0 - - NF-1 - NF1 NF1 1 1 Rick van Minkelen
00128529 Rotterdam 36892 - - - - (Netherlands) - - 0 - - NF-1 - NF1 NF1 1 1 Rick van Minkelen
00128530 Rotterdam 29522 - - - - (Netherlands) - - 0 - - NF-1 - NF1 NF1 1 1 Rick van Minkelen
00128531 Rotterdam 28972 - - - - (Netherlands) - - 0 - - NF-1 - NF1 NF1 1 1 Rick van Minkelen
00128532 Rotterdam 39637 - - - - (Netherlands) - - 0 - - NF-1 - NF1 NF1 1 1 Rick van Minkelen
00128533 Rotterdam 13054 - - - - (Netherlands) - - 0 - - NF-1 - NF1 NF1 1 1 Rick van Minkelen
00128534 Rotterdam 27385 - - - - (Netherlands) - - 0 - - NF-1 - NF1 NF1 1 1 Rick van Minkelen
00128535 Rotterdam 25311 - - - - (Netherlands) - - 0 - - NF-1 - NF1 NF1 1 1 Rick van Minkelen
00128536 Rotterdam 27246 - - - - (Netherlands) - - 0 - - NF-1 - NF1 NF1 1 1 Rick van Minkelen
00128537 Rotterdam 31372 - - - - (Netherlands) - - 0 - - NF-1 - NF1 NF1 1 1 Rick van Minkelen
00128538 Rotterdam 29843 - - - - (Netherlands) - - 0 - - NF-1 - NF1 NF1 1 1 Rick van Minkelen
00128539 Rotterdam 32077 - - - - (Netherlands) - - 0 - - NF-1 - NF1 NF1 1 1 Rick van Minkelen
00128540 Rotterdam 35171 - - - - (Netherlands) - - 0 - - NF-1 - NF1 NF1 1 1 Rick van Minkelen
00128541 Rotterdam 39477 - - - - (Netherlands) - - 0 - - NF-1 - NF1 NF1 1 1 Rick van Minkelen
00128542 Rotterdam 41284 - - - - (Netherlands) - - 0 - - NF-1 - NF1 NF1 1 1 Rick van Minkelen
00128543 Rotterdam 41309 - - - - (Netherlands) - - 0 - - NF-1 - NF1 NF1 1 1 Rick van Minkelen
00128544 Rotterdam 34137 - - - - (Netherlands) - - 0 - - NF-1 - NF1 NF1 1 1 Rick van Minkelen
00128545 Rotterdam 33898 - - - - (Netherlands) - - 0 - - NF-1 - NF1 NF1 1 1 Rick van Minkelen
00128546 Rotterdam 25322 - - - - (Netherlands) - - 0 - - NF-1 - NF1 NF1 1 1 Rick van Minkelen
00128547 Rotterdam 42087 - - - - (Netherlands) - - 0 - - NF-1 - NF1 NF1 1 1 Rick van Minkelen
00128548 Rotterdam 45416 - - - - (Netherlands) - - 0 - - NF-1 - NF1 NF1 1 1 Rick van Minkelen
00128549 Rotterdam 24534 - - - - (Netherlands) - - 0 - - NF-1 - NF1 NF1 1 1 Rick van Minkelen
00128550 Rotterdam 53022 - - - - (Netherlands) - - 0 - - NF-1 - NF1 NF1 1 1 Rick van Minkelen
00128551 Rotterdam 46676 - - - - (Netherlands) - - 0 - - NF-1 - NF1 NF1 1 1 Rick van Minkelen
00128552 Rotterdam 53510 - - - - (Netherlands) - - 0 - - NF-1 - NF1 NF1 1 1 Rick van Minkelen
00128553 Rotterdam 48579 - - - - (Netherlands) - - 0 - - NF-1 - NF1 NF1 1 1 Rick van Minkelen
00128554 Rotterdam 35251 - - - - (Netherlands) - - 0 - - NF-1 - NF1 NF1 1 1 Rick van Minkelen
00128555 Rotterdam 1526 - - - - (Netherlands) - - 0 - - NF-1 - NF1 NF1 1 1 Rick van Minkelen
00128556 Rotterdam 13693 - - - - (Netherlands) - - 0 - - NF-1 - NF1 NF1 1 1 Rick van Minkelen
00128557 Rotterdam 29288 - - - - (Netherlands) - - 0 - - NF-1 - NF1 NF1 1 1 Rick van Minkelen
00128558 Rotterdam 37040 - - - - (Netherlands) - - 0 - - NF-1 - NF1 NF1 1 1 Rick van Minkelen
00128559 Rotterdam 29038 - - - - (Netherlands) - - 0 - - NF-1 - NF1 NF1 1 1 Rick van Minkelen
00128560 Rotterdam 26204 - - - - (Netherlands) - - 0 - - NF-1 - NF1 NF1 1 1 Rick van Minkelen
00128561 Rotterdam 26666 - - - - (Netherlands) - - 0 - - NF-1 - NF1 NF1 1 1 Rick van Minkelen
00128562 Rotterdam 52251 - - - - (Netherlands) - - 0 - - NF-1 - NF1 NF1 1 1 Rick van Minkelen
00128563 Rotterdam 36847 - - - - (Netherlands) - - 0 - - NF-1 - NF1 NF1 1 1 Rick van Minkelen
00128564 Rotterdam 32018 - - - - (Netherlands) - - 0 - - NF-1 - NF1 NF1 1 1 Rick van Minkelen
00128565 Rotterdam 1982 - - - - (Netherlands) - - 0 - - NF-1 - NF1 NF1 1 1 Rick van Minkelen
00128566 Rotterdam 22576 - - - - (Netherlands) - - 0 - - NF-1 - NF1 NF1 1 1 Rick van Minkelen
00128567 Rotterdam 51501 - - - - (Netherlands) - - 0 - - NF-1 - NF1 NF1 1 1 Rick van Minkelen
00128568 Rotterdam 12567 - - - - (Netherlands) - - 0 - - NF-1 - NF1 NF1 2 1 Rick van Minkelen
00128569 Rotterdam 43978 - - - - (Netherlands) - - 0 - - NF-1 - NF1 NF1 1 1 Rick van Minkelen
00128570 - - - - - - - - 0 - - NF-1 - NF1 NF1 1 1 Rick van Minkelen
00128571 Rotterdam 31580 PubMed: upadhyaya 1997 - - - (Netherlands) - - 0 - - NF-1 - NF1 NF1 1 1 Rick van Minkelen
00128572 Rotterdam 18073 PubMed: upadhyaya 1997 - - - (Netherlands) - - 0 - - NF-1 - NF1 NF1 1 1 Rick van Minkelen
00128573 Rotterdam 24777 PubMed: upadhyaya 1997 - - - (Netherlands) - - 0 - - NF-1 - NF1 NF1 1 1 Rick van Minkelen
00128574 Rotterdam 12091 PubMed: upadhyaya 1997 - - - (Netherlands) - - 0 - - NF-1 - NF1 NF1 1 1 Rick van Minkelen
00128575 Rotterdam 31661 PubMed: upadhyaya 1997 - - - (Netherlands) - - 0 - - NF-1 - NF1 NF1 1 1 Rick van Minkelen
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