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Griscelli syndrome type 3

Also Known As:

Griscelli Syndrome, Type 3; Hypomelanosis with no immunologic or neurologic manifestations

Networked: 2 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Skin and Connective Tissue Diseases
- Skin Diseases: 13127
  - Pigmentation Disorders: 149
    - Hypopigmentation: 836
      - Albinism: 486
        Piebaldism: 75
        Griscelli syndrome type 3: 2
    - Griscelli syndrome type 3: 2
  - Genetic Skin Diseases: 47
    - Albinism: 486
      - Piebaldism: 75
        Griscelli syndrome type 3: 2
Signs and Symptoms Pathological Conditions
- Pathologic Processes: 10023
  - Pigmentation Disorders: 149
    - Griscelli syndrome type 3: 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Amino Acid Metabolism: 1
      - Albinism: 486
        Piebaldism: 75
        Griscelli syndrome type 3: 2

Related Diseases

1.	Arthritis (Polyarthritis)
2.	Purine Nucleoside Phosphorylase Deficiency

Experts

1.	Al-Herz, Waleed: 1 article (11/2021)
2.	Al-Mayouf, Sulaiman M: 1 article (11/2021)
3.	Al-Mousa, Hamoud: 1 article (11/2021)
4.	AlRowais, Abdulaziz: 1 article (11/2021)
5.	AlSalmi, Ghada: 1 article (11/2021)
6.	Alazami, Anas M: 1 article (11/2021)
7.	Alreefi, Hajar A: 1 article (11/2021)
8.	Alsinan, Tuqa A: 1 article (11/2021)
9.	Alsonbul, Abdullah: 1 article (11/2021)
10.	Chouta Ngaha, F: 1 article (12/2018)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Griscelli syndrome type 3:

1.	DNA (Deoxyribonucleic Acid)IBA 12/01/2018 - "DNA sequencing showed a homozygous C103T (R35W) transition in exon 1 of MLPH, confirming Griscelli syndrome type 3. Three clinical phenotypes of GS have been described based on the underlying genetic defect. "
2.	deoxyribonuclease II (DNASE II)IBA 11/01/2021 - "The other seven patients had different PIDs genetic defects that include SCID caused by PNP deficiency, CGD, CVID (PIK3CD), IL-2RB mutation, DNase II deficiency, STAT1 mutation, ISG15 mutation and Griscelli syndrome type 3. Mucocutaneous lesions, arthritis and lung involvement were the main clinical features. "