N syndrome

Mental retardation, malformations, chromosome breakage, and development of T-cell leukemia

Networked: 4 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Nervous System Diseases: 14178
- Neurologic Manifestations: 7102
  - Neurobehavioral Manifestations: 1586
    - Intellectual Disability: 8035
      - N syndrome: 4
Signs and Symptoms Pathological Conditions
- Signs and Symptoms
  - Neurologic Manifestations: 7102
    - Neurobehavioral Manifestations: 1586
      - Intellectual Disability: 8035
        N syndrome: 4
Behavior and Behavior Mechanisms
- Neurobehavioral Manifestations: 1586
  - Intellectual Disability: 8035
    - N syndrome: 4
Mental Disorders: 24177
- Neurodevelopmental Disorders: 3095
  - Intellectual Disability: 8035
    - N syndrome: 4
Neoplasms: 1324753
- Neoplasms by Histologic Type: 2
  - Leukemia: 58722
    - Lymphoid Leukemia: 1718
      - T-Cell Leukemia: 2805
        N syndrome: 4
Hemic and Lymphatic Diseases: 6
- Hematologic Diseases: 3366
  - Leukemia: 58722
    - Lymphoid Leukemia: 1718
      - T-Cell Leukemia: 2805
        N syndrome: 4
- Lymphatic Diseases: 92
  - Lymphoproliferative Disorders: 4250
    - Lymphoid Leukemia: 1718
      - T-Cell Leukemia: 2805
        N syndrome: 4
Immune System Diseases: 4321
- Immunoproliferative Disorders: 29
  - Lymphoproliferative Disorders: 4250
    - Lymphoid Leukemia: 1718
      - T-Cell Leukemia: 2805
        N syndrome: 4
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - DNA Repair-Deficiency Disorders: 538
    - N syndrome: 4

Related Diseases

1.	Chromosome Breakage
2.	T-Cell Leukemia (Leukemia, T Cell)
3.	Fanconi Anemia (Fanconi's Anemia)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to N syndrome:

1.	Hypoxanthine Phosphoribosyltransferase (Hypoxanthine Guanine Phosphoribosyltransferase)IBA 05/01/1988 - "All four cases had typical clinical features of L-N syndrome, and the activities of hypoxanthine-guanine phosphoribosyltransferase (HPRT) were absent. " 12/01/1986 - "In addition to these cases, 10 cases have been reported in the literature, and 16 cases were considered to be with L-N syndrome from their typical clinical features without any determination of HPRT activity." 08/02/1984 - "Thus, Haldane's principle predicts that new mutations at the hprt locus must occur frequently in order for L-N syndrome to be maintained in the population. "
2.	AphidicolinIBA 03/01/1990 - "When aphidicolin was used to inhibit repair mediated by DNA polymerase alpha, both normal control and Fanconi anemia fibroblasts showed significantly more chromosome breakage than was produced by bleomycin alone, but there was no increase in the amount of breakage seen in the N syndrome fibroblasts over that seen with bleomycin alone. "
3.	DNA Polymerase I (Klenow Fragment)IBA 03/01/1990 - "DNA polymerase alpha defect in the N syndrome." 03/01/1990 - "This suggests that the N syndrome is due to a mutation affecting the region of the X chromosome on which the gene for DNA polymerase alpha is located, and that the high risk of T-cell leukemia observed in the hemizygote is due to this DNA repair defect." 03/01/1990 - "N syndrome fibroblasts were studied to see if the high chromosome breakage rate associated with this apparently X-linked syndrome could be related to a deficiency of DNA polymerase alpha, a product of a gene localized to the X chromosome. " 03/01/1990 - "When aphidicolin was used to inhibit repair mediated by DNA polymerase alpha, both normal control and Fanconi anemia fibroblasts showed significantly more chromosome breakage than was produced by bleomycin alone, but there was no increase in the amount of breakage seen in the N syndrome fibroblasts over that seen with bleomycin alone. "
4.	Bleomycin (Blenoxane)FDA LinkGeneric 03/01/1990 - "Bleomycin, which is known to break double-stranded DNA, produced increased chromosome breakage in normal control, Fanconi anemia, and N syndrome fibroblasts. " 03/01/1990 - "When aphidicolin was used to inhibit repair mediated by DNA polymerase alpha, both normal control and Fanconi anemia fibroblasts showed significantly more chromosome breakage than was produced by bleomycin alone, but there was no increase in the amount of breakage seen in the N syndrome fibroblasts over that seen with bleomycin alone. "