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Disease Profile
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.
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Age of onset
Childhood
ICD-10
E70.3
Inheritance
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.
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.
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.
Not applicable
Other names (AKA)
GS2; Griscelli syndrome with hemophagocytic syndrome; Partial albinism and immunodeficiency syndrome;
Categories
Congenital and Genetic Diseases; Eye diseases; Immune System Diseases;
Summary
Griscelli
Symptoms
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 |
Learn More:
HPO ID
|
---|---|---|
80%-99% of people have these symptoms | ||
Hypopigmented skin patches |
Patchy loss of skin color
|
0001053 |
Premature graying of hair |
Early graying
Premature graying
Premature greying
Premature hair graying
[ more ] |
0002216 |
Silver-gray hair |
Silvery-gray hair
Silver-gray hair color
[ more ] |
0002218 |
White hair | 0011364 | |
30%-79% of people have these symptoms | ||
Abnormal circulating lipid concentration | 0003119 | |
Abnormality of neutrophils | 0001874 | |
Decreased circulating |
0004313 | |
Decreased immune function
|
0002721 | |
Leukopenia |
Decreased blood leukocyte number
Low white blood cell count
[ more ] |
0001882 |
Lymphadenopathy |
Swollen lymph nodes
|
0002716 |
Reduced tendon reflexes | 0001315 | |
Low platelet count
|
0001873 | |
5%-29% of people have these symptoms | ||
Abnormal eyebrow morphology |
Abnormality of the eyebrow
|
0000534 |
Abnormal eyelash morphology |
Abnormal eyelashes
Abnormality of the eyelashes
Eyelash abnormality
[ more ] |
0000499 |
Ascites |
Accumulation of fluid in the abdomen
|
0001541 |
0001251 | ||
Bone marrow hypocellularity |
Bone marrow failure
|
0005528 |
Cranial nerve paralysis | 0006824 | |
Encephalocele | 0002084 | |
Fever | 0001945 | |
Global |
0001263 | |
Hepatitis |
Liver inflammation
|
0012115 |
Hepatomegaly |
Enlarged liver
|
0002240 |
Too much cerebrospinal fluid in the brain
|
0000238 | |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Iris hypopigmentation |
Light eye color
|
0007730 |
Yellow skin
Yellowing of the skin
[ more ] |
0000952 | |
Muscular |
Low or weak muscle tone
|
0001252 |
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
Pedal edema |
Fluid accumulation in lower limbs
Lower leg swelling
[ more ] |
0010741 |
Progressive neurologic deterioration |
Worsening neurological symptoms
|
0002344 |
Pyloric stenosis | 0002021 | |
0001250 | ||
Decreased body height
Small stature
[ more ] |
0004322 | |
Involuntary muscle stiffness, contraction, or spasm
|
0001257 | |
Splenomegaly |
Increased spleen size
|
0001744 |
1%-4% of people have these symptoms | ||
Hemophagocytosis | 0012156 | |
Enlarged liver and spleen
|
0001433 | |
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 | |
0000007 | ||
Death in childhood | 0003819 | |
Hypopigmentation of the skin |
Patchy lightened skin
|
0001010 |
Infantile onset |
Onset in first year of life
Onset in infancy
[ more ] |
0003593 |
Recurrent bacterial infections |
Bacterial infections, recurrent
Frequent bacterial infections
Increased susceptibility to bacterial infections
Recurrent major bacterial infections
[ more ] |
0002718 |
Reduced delayed hypersensitivity | 0002972 |
Diagnosis
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.
Testing Resources
- 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.
Treatment
Organizations
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.
Organizations Supporting this Disease
-
Jeffrey Modell Foundation (JMF)
780 Third Ave
New York, NY 10017
Fax: 212-764-4180
E-mail: [email protected]
Website: https://www.info4pi.org/
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.
Organizations Providing General Support
-
Immune Deficiency Foundation
110 West Road, Suite 300
Towson, MD 21204
Toll-free: 1-800-296-4433
Fax: +1-410-321-9165
E-mail: https://www.primaryimmune.org/services/ask-idf/
Website: https://www.primaryimmune.org/
Learn more
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.
Where to Start
- 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.
In-Depth Information
- 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.
References
- 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.
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