Neurofibromatosis-Noonan syndrome

Also Known As:

Neurofibromatosis with Noonan phenotype; Noonan neurofibromatosis syndrome; Noonan-Neurofibromatosis Syndrome

Networked: 6 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Musculoskeletal Diseases: 719
- Musculoskeletal Abnormalities: 43
  - Craniofacial Abnormalities: 203
    - Noonan Syndrome: 419
      - Neurofibromatosis-Noonan syndrome: 6
Cardiovascular Diseases: 91362
- Heart Diseases: 26014
  - Congenital Heart Defects: 8917
    - Noonan Syndrome: 419
      - Neurofibromatosis-Noonan syndrome: 6
- Cardiovascular Abnormalities: 452
  - Congenital Heart Defects: 8917
    - Noonan Syndrome: 419
      - Neurofibromatosis-Noonan syndrome: 6
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Cardiovascular Abnormalities: 452
    - Congenital Heart Defects: 8917
      - Noonan Syndrome: 419
        Neurofibromatosis-Noonan syndrome: 6
  - Musculoskeletal Abnormalities: 43
    - Craniofacial Abnormalities: 203
      - Noonan Syndrome: 419
        Neurofibromatosis-Noonan syndrome: 6
- Inborn Genetic Diseases: 11939
  - Hereditary Neoplastic Syndromes: 112
    - Neurofibromatoses: 821
      - Neurofibromatosis-Noonan syndrome: 6
  - Nervous System Heredodegenerative Disorders: 63
    - Neurofibromatoses: 821
      - Neurofibromatosis-Noonan syndrome: 6
Skin and Connective Tissue Diseases
- Connective Tissue Diseases: 3269
  - Noonan Syndrome: 419
    - Neurofibromatosis-Noonan syndrome: 6
Neoplasms: 1324753
- Hereditary Neoplastic Syndromes: 112
  - Neurofibromatoses: 821
    - Neurofibromatosis-Noonan syndrome: 6
- Neoplasms by Histologic Type: 2
  - Nerve Tissue Neoplasms: 1
    - Nerve Sheath Neoplasms: 273
      - Neurofibroma: 844
        Neurofibromatoses: 821
        Neurofibromatosis-Noonan syndrome: 6
Nervous System Diseases: 14178
- Neurodegenerative Diseases: 42472
  - Nervous System Heredodegenerative Disorders: 63
    - Neurofibromatoses: 821
      - Neurofibromatosis-Noonan syndrome: 6
- Neurocutaneous Syndromes: 262
  - Neurofibromatoses: 821
    - Neurofibromatosis-Noonan syndrome: 6

Related Diseases

1.	Noonan Syndrome (Female Pseudo-Turner Syndrome)
2.	Neurofibromatosis 1 (Neurofibromatosis Type I)

Experts

1.	Ni, Yinxing: 1 article (05/2022)
2.	Qin, Si: 1 article (05/2022)
3.	Yu, Fadong: 1 article (05/2022)
4.	Zhang, Yindi: 1 article (05/2022)
5.	Zhong, Jian: 1 article (05/2022)
6.	Alikaşifoğlu, Ayfer: 1 article (03/2016)
7.	Gönç, Nazlı: 1 article (03/2016)
8.	Kandemir, Nurgün: 1 article (03/2016)
9.	Vidaud, Dominique: 1 article (03/2016)
10.	Vurallı, Doğuş: 1 article (03/2016)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Neurofibromatosis-Noonan syndrome:

1.	Neurofibromin 1 (Neurofibromin)IBA 07/01/2023 - "Whole genome sequencing revealed Neurofibromatosis-Noonan syndrome which was likely a pathogenic variant causative of the typical phenotype present with a mutation in the neurofibromin gene (NF1) on chromosome 17q11. " 05/15/2003 - "However, it remains unclear whether Neurofibromatosis-Noonan syndrome (NFNS) represents a form of NF1 (with mutations in the NF1 neurofibromin gene) or a separate syndrome. "
2.	Growth Hormone (Somatotropin)IBA 11/22/2023 - "A Novel Heterozygous NF1 Variant in a Neurofibromatosis-Noonan Syndrome Patient with Growth Hormone Deficiency: A Case Report" 03/05/2016 - "Growth Hormone Deficiency in a Child with Neurofibromatosis-Noonan Syndrome."
3.	Mitogen-Activated Protein KinasesIBA 04/15/2011 - "Neurofibromatosis-Noonan syndrome is an entity that combines both features of Noonan syndrome and Neurofibromatosis type 1. This phenotypic overlap can be explained by the involvement of the RAS-MAPK pathway (mitogen-activated protein kinase) in both disorders. "
4.	Nonsense Codon (Nonsense Mutation)IBA 12/01/2012 - "A new nonsense mutation in the NF1 gene with neurofibromatosis-Noonan syndrome phenotype."