Griscelli syndrome type 2
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Age of Onset
Autosomal dominant ?A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease
Autosomal recessive ?Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype
X-linked dominant ?X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked recessive ?Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder
Mitochondrial or multigenic ?Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor ?Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Other Names (AKA)
GS2; Griscelli syndrome with hemophagocytic syndrome; Partial albinism and immunodeficiency syndrome;
Congenital and Genetic Diseases; Eye diseases; Immune System Diseases;
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
|Medical Terms||Other Names||
|80%-99% of people have these symptoms|
|Hypopigmented skin patches||
Patchy loss of skin color
|Premature graying of hair||
Premature hair graying
[ more ]
Silver-gray hair color
[ more ]
|30%-79% of people have these symptoms|
|Abnormal circulating lipid concentration||0003119|
|Abnormality of neutrophils||0001874|
Decreased immune function
Decreased blood leukocyte number
Low white blood cell count
[ more ]
Swollen lymph nodes
|Reduced tendon reflexes||0001315|
Low platelet count
|5%-29% of people have these symptoms|
|Abnormal eyebrow morphology||
Abnormality of the eyebrow
|Abnormal eyelash morphology||
Abnormality of the eyelashes
[ more ]
Accumulation of fluid in the abdomen
|Bone marrow hypocellularity||
Bone marrow failure
|Cranial nerve paralysis||0006824|
Too much cerebrospinal fluid in the brain
Mental retardation, nonspecific
[ more ]
Light eye color
Yellowing of the skin
[ more ]
Low or weak muscle tone
Involuntary, rapid, rhythmic eye movements
Fluid accumulation in lower limbs
Lower leg swelling
[ more ]
|Progressive neurologic deterioration||
Worsening neurological symptoms
Decreased body height
[ more ]
Involuntary muscle stiffness, contraction, or spasm
Increased spleen size
|1%-4% of people have these symptoms|
Enlarged liver and spleen
|Melanin pigment aggregation in hair shafts||0002220|
|Percent of people who have these symptoms is not available through HPO|
|Accumulation of melanosomes in melanocytes||0001008|
|Death in childhood||0003819|
|Hypopigmentation of the skin||
Patchy lightened skin
Onset in first year of life
Onset in infancy
[ more ]
|Recurrent bacterial infections||
Bacterial infections, recurrent
Frequent bacterial infections
Increased susceptibility to bacterial infections
Recurrent major bacterial infections
[ more ]
|Reduced delayed hypersensitivity||0002972|
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Jeffrey Modell Foundation (JMF)
780 Third Ave
New York, NY 10017
JMF is a global patient organization devoted to early and precise diagnosis, meaningful treatments, and ultimately, cures through clinical and basic research, physician education, patient support, advocacy, public awareness and newborn screening.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
- DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.
- Genetics Home Reference (GHR) contains information on Griscelli syndrome type 2. This website is maintained by the National Library of Medicine.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Griscelli syndrome type 2. Click on the link to view a sample search on this topic.
- Griscelli syndrome. Genetics Home Reference. September 2013; https://ghr.nlm.nih.gov/condition/griscelli-syndrome.
- Griscelli syndrome. DermNet NZ. January 2015; https://www.dermnetnz.org/colour/griscelli.html.
- Scheinfeld NS. Griscelli Syndrome. Medscape Reference. Jan 19, 2016; https://emedicine.medscape.com/article/1069442-overview.