loading...| Preferred Name |
Noonan Syndrome |
|
| Synonyms |
Turner's Phenotype, Karyotype Normal |
|
| Definitions |
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 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. |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D009634 |
|
| altLabel |
Turner's Phenotype, Karyotype Normal Turner Syndrome, Male Turner Syndrome, Familial Female Pseudo Turner Syndrome Turner's Syndrome, Male Pseudo-Ullrich-Turner Syndrome Noonan Syndrome 1 Male Turner's Syndrome Noonan Ehmke Syndrome Familial Turner Syndrome Turner-Like Syndrome Pseudo Ullrich Turner Syndrome Male Turner Syndrome Noonan-Ehmke Syndrome Female Pseudo-Turner Syndrome Turner Phenotype with Normal Karyotype Ullrich Noonan Syndrome Ullrich-Noonan Syndrome Turner Like Syndrome Pseudo-Turner Syndrome, Female |
|
| 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 |
C0028326 C4551602 C1527404 C0041409 |
|
| DC |
1 |
|
| 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 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. |
|
| DX |
19790101 |
|
| FX |
D044542 D009456 D056685 D014424 |
|
| HN |
1979 |
|
| 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/D009456 http://purl.bioontology.org/ontology/MESH/D014424 |
|
| Machine permutation |
1979 |
|
| Mapped from |
http://purl.bioontology.org/ontology/MESH/C548081 http://purl.bioontology.org/ontology/MESH/C548084 http://purl.bioontology.org/ontology/MESH/C548082 http://purl.bioontology.org/ontology/MESH/C548083 http://purl.bioontology.org/ontology/MESH/C537393 http://purl.bioontology.org/ontology/MESH/C564342 http://purl.bioontology.org/ontology/MESH/C537846 |
|
| MDA |
19771205 |
|
| MMR |
20190701 |
|
| MN |
C14.240.400.787 C14.280.400.787 C17.300.690 C05.660.207.690 C16.131.240.400.784 C16.131.621.207.690 |
|
| notation |
D009634 |
|
| prefLabel |
Noonan Syndrome |
|
| TERMUI |
T782696 T535439 T750417 T842161 T842165 T811777 T842160 T842164 T842166 T427907 T028659 T028660 T842162 |
|
| TH |
NLM (1979) OMIM (2013) NLM (2002) NLM (2004) NLM (2012) UNK (19XX) NLM (2010) GHR (2014) ORD (2010) |
|
| tui |
T047 T019 |
|
| subClassOf |
http://purl.bioontology.org/ontology/MESH/D019465 |