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Term:Noonan syndrome
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Accession:DOID:3490 term browser browse the term
Definition:A genetically heterogeneous, multifaceted disorder characterized by short stature, webbed neck, ptosis, skeletal malformations, hypertelorism, hormonal imbalance, CRYPTORCHIDISM, multiple cardiac abnormalities (most commonly including PULMONARY VALVE STENOSIS), and some degree of INTELLECTUAL DISABILITY. The phenotype bears similarities to that of TURNER SYNDROME that occurs only in females and has its basis in a 45, X karyotype abnormality. Noonan syndrome occurs in both males and females with a normal karyotype (46,XX and 46,XY). Mutations in a several genes (PTPN11, KRAS, SOS1, NF1 and RAF1) have been associated the the NS phenotype. Mutations in PTPN11 are the most common. LEOPARD SYNDROME, a disorder that has clinical features overlapping those of Noonan Syndrome, is also due to mutations in PTPN11. In addition, there is overlap with the syndrome called neurofibromatosis-Noonan syndrome due to mutations in NF1.
Synonyms:exact_synonym: Familial Turner Syndrome;   Female Pseudo Turner Syndrome;   Male Turner Syndrome;   Male Turner's Syndrome;   NOONAN'S SYNDROME;   Noonan Ehmke Syndrome;   Pseudo Ullrich Turner Syndrome;   Turner Like Syndrome;   Turner Phenotype with Normal Karyotype;   Turner's Phenotype, Karyotype Normal;   Ullrich Noonan Syndrome
 narrow_synonym: TURNER PHENOTYPE WITH NORMAL KARYOTYPE PTERYGIUM COLLI SYNDROME
 primary_id: MESH:D009634;   RDO:0000175
 xref: GARD:10955;   OMIM:PS163950;   ORDO:648
For additional species annotation, visit the Alliance of Genome Resources.


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Noonan syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G A2ml1 alpha-2-macroglobulin-like 1 JBrowse link 4 161,863,609 161,907,897 RGD:8554872
G Apaf1 apoptotic peptidase activating factor 1 JBrowse link 7 31,699,309 31,784,192 RGD:13592920
G Braf B-Raf proto-oncogene, serine/threonine kinase JBrowse link 4 67,389,331 67,520,549 RGD:8554872
RGD:11554173
G Cbl Cbl proto-oncogene JBrowse link 8 48,481,256 48,564,775 RGD:8554872
G Dmpk DM1 protein kinase JBrowse link 1 79,988,096 79,999,358 RGD:8554872
G Epha2 Eph receptor A2 JBrowse link 5 159,845,773 159,874,203 RGD:11554173
G F11 coagulation factor XI JBrowse link 16 50,179,458 50,201,644 RGD:11041743
G Hras HRas proto-oncogene, GTPase JBrowse link 1 214,178,404 214,181,841 RGD:11554173
RGD:8554872
G Igf1 insulin-like growth factor 1 JBrowse link 7 28,412,123 28,491,815 RGD:11352540
RGD:11063837
G Igfals insulin-like growth factor binding protein, acid labile subunit JBrowse link 10 14,240,308 14,243,554 RGD:11063837
G Kat6b lysine acetyltransferase 6B JBrowse link 15 2,811,933 2,966,833 RGD:9590337
RGD:13592920
G Kras KRAS proto-oncogene, GTPase JBrowse link 4 179,482,562 179,515,483 RGD:1600472
RGD:8554872
RGD:11554173
RGD:11060134
G Lrrc56 leucine rich repeat containing 56 JBrowse link 1 214,182,232 214,197,184 RGD:8554872
G Map2k1 mitogen activated protein kinase kinase 1 JBrowse link 8 69,134,218 69,722,573 RGD:11554173
RGD:8554872
G Map2k2 mitogen activated protein kinase kinase 2 JBrowse link 7 11,458,971 11,478,520 RGD:11554173
G Nras NRAS proto-oncogene, GTPase JBrowse link 2 205,553,119 205,563,716 RGD:8554872
RGD:11554173
G Plat plasminogen activator, tissue type JBrowse link 16 74,098,263 74,122,897 RGD:13207331
G Plg plasminogen JBrowse link 1 48,521,828 48,563,895 RGD:13207331
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 JBrowse link 12 40,895,515 40,955,999 RGD:1581292
RGD:8554872
RGD:11352540
RGD:11554173
G Raf1 Raf-1 proto-oncogene, serine/threonine kinase JBrowse link 4 147,532,040 147,592,769 RGD:8554872
RGD:12910711
RGD:11063621
RGD:11064431
RGD:11064112
RGD:11554173
G Rit1 Ras-like without CAAX 1 JBrowse link 2 188,087,486 188,099,444 RGD:8554872
G Rpl6 ribosomal protein L6 JBrowse link 12 40,877,578 40,882,032 RGD:8554872
G Rras RAS related JBrowse link 1 101,012,822 101,016,720 RGD:8554872
G Serpine1 serpin family E member 1 JBrowse link 12 22,641,104 22,651,482 RGD:13207331
G Shoc2 SHOC2 leucine-rich repeat scaffold protein JBrowse link 1 274,700,621 274,751,195 RGD:11554173
RGD:8554872
G Snapc5 small nuclear RNA activating complex, polypeptide 5 JBrowse link 8 69,127,708 69,131,539 RGD:8554872
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 JBrowse link 6 3,105,443 3,182,977 RGD:8554872
RGD:11067112
RGD:11554173
G Tipin timeless interacting protein JBrowse link 8 69,753,363 69,768,640 RGD:8554872
Neurofibromatosis-Noonan Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nf1 neurofibromin 1 JBrowse link 10 66,732,460 66,928,706 RGD:7240710
RGD:8554872
Noonan Like Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cbl Cbl proto-oncogene JBrowse link 8 48,481,256 48,564,775 RGD:8554872
G Cdc42 cell division cycle 42 JBrowse link 5 155,690,267 155,728,385 RGD:8554872
G Mcam melanoma cell adhesion molecule JBrowse link 8 48,472,824 48,481,005 RGD:8554872
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 JBrowse link 12 40,895,515 40,955,999 RGD:11064737
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 JBrowse link 6 3,105,443 3,182,977 RGD:8554872
Noonan syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G A2ml1 alpha-2-macroglobulin-like 1 JBrowse link 4 161,863,609 161,907,897 RGD:8554872
G Braf B-Raf proto-oncogene, serine/threonine kinase JBrowse link 4 67,389,331 67,520,549 RGD:8554872
RGD:13592920
G Map2k1 mitogen activated protein kinase kinase 1 JBrowse link 8 69,134,218 69,722,573 RGD:13592920
G Nras NRAS proto-oncogene, GTPase JBrowse link 2 205,553,119 205,563,716 RGD:8554872
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 JBrowse link 12 40,895,515 40,955,999 RGD:7240710
RGD:8554872
G Raf1 Raf-1 proto-oncogene, serine/threonine kinase JBrowse link 4 147,532,040 147,592,769 RGD:8554872
Noonan syndrome 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lztr1 leucine-zipper-like transcription regulator 1 JBrowse link 11 87,381,638 87,397,849 RGD:8554872
RGD:7240710
Noonan syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lztr1 leucine-zipper-like transcription regulator 1 JBrowse link 11 87,381,638 87,397,849 RGD:8554872
RGD:7240710
Noonan syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hras HRas proto-oncogene, GTPase JBrowse link 1 214,178,404 214,181,841 RGD:8554872
G Kras KRAS proto-oncogene, GTPase JBrowse link 4 179,482,562 179,515,483 RGD:7240710
RGD:8554872
G Lrrc56 leucine rich repeat containing 56 JBrowse link 1 214,182,232 214,197,184 RGD:8554872
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 JBrowse link 12 40,895,515 40,955,999 RGD:8554872
G Raf1 Raf-1 proto-oncogene, serine/threonine kinase JBrowse link 4 147,532,040 147,592,769 RGD:8554872
G Shoc2 SHOC2 leucine-rich repeat scaffold protein JBrowse link 1 274,700,621 274,751,195 RGD:8554872
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 JBrowse link 6 3,105,443 3,182,977 RGD:8554872
Noonan syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 JBrowse link 6 3,105,443 3,182,977 RGD:7240710
RGD:8554872
RGD:11063026
RGD:11063543
RGD:11063178
Noonan syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Raf1 Raf-1 proto-oncogene, serine/threonine kinase JBrowse link 4 147,532,040 147,592,769 RGD:7240710
RGD:8554872
Noonan syndrome 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nras NRAS proto-oncogene, GTPase JBrowse link 2 205,553,119 205,563,716 RGD:7240710
RGD:8554872
Noonan syndrome 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Braf B-Raf proto-oncogene, serine/threonine kinase JBrowse link 4 67,389,331 67,520,549 RGD:7240710
RGD:8554872
Noonan syndrome 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arhgef2 Rho/Rac guanine nucleotide exchange factor 2 JBrowse link 2 187,964,100 188,022,847 RGD:8554872
G Khdc4 KH domain containing 4, pre-mRNA splicing factor JBrowse link 2 188,051,657 188,080,280 RGD:8554872
G Lamtor2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 JBrowse link 2 187,911,530 187,914,930 RGD:8554872
G Lmna lamin A/C JBrowse link 2 187,842,884 187,863,552 RGD:8554872
G Mex3a mex-3 RNA binding family member A JBrowse link 2 187,893,678 187,902,546 RGD:8554872
G Rab25 RAB25, member RAS oncogene family JBrowse link 2 187,903,301 187,909,398 RGD:8554872
G Rit1 Ras-like without CAAX 1 JBrowse link 2 188,087,486 188,099,444 RGD:7240710
RGD:8554872
G Rxfp4 relaxin family peptide/INSL5 receptor 4 JBrowse link 2 188,026,531 188,027,685 RGD:8554872
G Ssr2 signal sequence receptor subunit 2 JBrowse link 2 187,951,316 187,960,067 RGD:8554872
G Ubqln4 ubiquilin 4 JBrowse link 2 187,915,701 187,931,035 RGD:8554872
Noonan syndrome 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sos2 SOS Ras/Rho guanine nucleotide exchange factor 2 JBrowse link 6 91,885,292 92,008,059 RGD:7240710
RGD:8554872
Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Shoc2 SHOC2 leucine-rich repeat scaffold protein JBrowse link 1 274,700,621 274,751,195 RGD:7240710
RGD:8554872
Noonan Syndrome-Like Disorder with Loose Anagen Hair 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ppp1cb protein phosphatase 1 catalytic subunit beta JBrowse link 6 23,548,507 23,581,136 RGD:8554872
RGD:7240710
Noonan Syndrome-Like Disorder with or without Juvenile Myelomonocytic Leukemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cbl Cbl proto-oncogene JBrowse link 8 48,481,256 48,564,775 RGD:7240710
RGD:8554872
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 JBrowse link 12 40,895,515 40,955,999 RGD:8554872
Noonan-like Syndrome with Loose Anagen Hair term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Shoc2 SHOC2 leucine-rich repeat scaffold protein JBrowse link 1 274,700,621 274,751,195 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    syndrome 4210
      Noonan syndrome 43
        Kousseff Nichols Syndrome 0
        Neurofibromatosis-Noonan Syndrome 1
        Noonan Like Syndrome + 7
        Noonan syndrome 1 6
        Noonan syndrome 10 1
        Noonan syndrome 2 1
        Noonan syndrome 3 7
        Noonan syndrome 4 1
        Noonan syndrome 5 1
        Noonan syndrome 6 1
        Noonan syndrome 7 1
        Noonan syndrome 8 10
        Noonan syndrome 9 1
Path 2
Term Annotations click to browse term
  disease 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        Congenital Abnormalities 3137
          Cardiovascular Abnormalities 781
            congenital heart disease 730
              Noonan syndrome 43
                Kousseff Nichols Syndrome 0
                Neurofibromatosis-Noonan Syndrome 1
                Noonan Like Syndrome + 7
                Noonan syndrome 1 6
                Noonan syndrome 10 1
                Noonan syndrome 2 1
                Noonan syndrome 3 7
                Noonan syndrome 4 1
                Noonan syndrome 5 1
                Noonan syndrome 6 1
                Noonan syndrome 7 1
                Noonan syndrome 8 10
                Noonan syndrome 9 1
paths to the root