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Disease Profile

Griscelli syndrome type 2

Prevalence
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.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Childhood

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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

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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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.

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Not applicable

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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 syndrome type 2 (GS2) is a rare, inherited condition that affects the skin, hair, and immune system. People with GS2 have unusually light skin and silver-colored hair. They are also prone to recurrent infections and develop an immune condition called hemophagocytic lymphohistiocytosis (HLH). HLH can damage organs and tissues throughout the body, causing life-threatening complications.[1] GS2 is caused by changes (mutations) in the RAB27A gene and is inherited in an autosomal recessive manner.[1][2] The only current treatment that can extend survival is stem cell transplantation (a bone marrow transplant).[3] Untreated, most children with GS2 do not survive past early childhood.[2]

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 antibody level
0004313
Immunodeficiency
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
Thrombocytopenia
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
Ataxia
0001251
Bone marrow hypocellularity
Bone marrow failure
0005528
Cranial nerve paralysis
0006824
Encephalocele
0002084
Fever
0001945
Global developmental delay
0001263
Hepatitis
Liver inflammation
0012115
Hepatomegaly
Enlarged liver
0002240
Hydrocephalus
Too much cerebrospinal fluid in the brain
0000238
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Iris hypopigmentation
Light eye color
0007730
Jaundice
Yellow skin
Yellowing of the skin

[ more ]

0000952
Muscular hypotonia
Low or weak muscle tone
0001252
Nystagmus
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
Seizure
0001250
Short stature
Decreased body height
Small stature

[ more ]

0004322
Spasticity
Involuntary muscle stiffness, contraction, or spasm
0001257
Splenomegaly
Increased spleen size
0001744
1%-4% of people have these symptoms
Hemophagocytosis
0012156
Hepatosplenomegaly
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
Autosomal recessive inheritance
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

    Bone marrow transplantation is the most effective treatment and the only possible cure for Griscelli syndrome type 2 (GS2). Immunosuppressive therapies may be used in preparation for transplantation, and to suppress damage to multiple organs caused by hemophagocytic lymphohistiocystosis. Recurrent infections may be minimized with antibacterial and antiviral medications. In addition, avoiding interactions that increase the risk of infection is important.[3]

    Additional information about various medications used to treat GS2 can be viewed on Medscape Reference's website here.

    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: info@jmfworld.org
        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

        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

            1. Griscelli syndrome. Genetics Home Reference. September 2013; https://ghr.nlm.nih.gov/condition/griscelli-syndrome.
            2. Griscelli syndrome. DermNet NZ. January 2015; https://www.dermnetnz.org/colour/griscelli.html.
            3. Scheinfeld NS. Griscelli Syndrome. Medscape Reference. Jan 19, 2016; https://emedicine.medscape.com/article/1069442-overview.

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