Rare Rheumatology News
Advertisement
Disease Profile
Wiskott Aldrich syndrome
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.
1-9 / 1 000 000
Age of onset
Infancy
ICD-10
D82.0
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)
WAS; Eczema thrombocytopenia immunodeficiency syndrome; Immunodeficiency 2;
Categories
Blood Diseases; Congenital and Genetic Diseases; Immune System Diseases;
Summary
Wiskott Aldrich
Wiskott-Aldrich syndrome, X-linked thrombocytopenia (XLT), and X-linked neutropenia (XLN) are known as “WAS-related disorders” because these diseases are all caused by mutations in the WAS gene, and have overlapping symptoms ranging from severe to mild (Wiskott-Aldrich syndrome is the most severe). The WAS gene mutations result in deficiency of the Wiskott-Aldrich syndrome
Symptoms
- Decreased numbers of
platelets (thrombocytopenia ), and very small platelets usually present at birth which can result in:- Bleeding inside the brain, which can be very fatal
- Mucosal (such as insed the mouth) bleeding
- Bloody diarrhea
- Bruising or purplish areas on the skin or mucous membranes (purpura), caused by bleeding under the skin
- Pinpoint red spots on the skin (petechiae).
- Life-threatening bleeding (occurs in 30% of males prior to diagnosis)
- Red patches of red and irritated skin (eczema), ccurs in about 80% of the cases and can be mild to severe
- Other skin diseases such as impetigo, cellulitis, and abscesses
- Increased risk of infections, especially to recurrent bacterial and viral infections, mostly recurrent ear infections and some
viruses such as cytomegalovirus (CMV), herpes simplex virus (HSV), Epstein-Barr virus (EBV). - Increased risk of developing autoimmune disorders (when the
immune system mistakenly attacks the body's owntissues andorgans ) specially when people get older, and that may includehemolytic anemia (destruction ofred blood cells ), immune thrombocytopenic purpura, rheumatoid arthritis, vasculitis of small and large vessels, and immune-mediated damage to the kidneys and liver - Increased risk of developing some types of
cancer , such as lymphoma, especially in people with WAS who had an EBV infection or are older and have anautoimmune disease .
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 | |||
Abnormal platelet morphology |
Abnormal shape of platelets
|
0011875 | |
Bruising |
Bruise easily
Easy bruisability
Easy bruising
[ more ] |
0000978 | |
Chronic diarrhea | 0002028 | ||
Chronic otitis media |
Chronic infections of the middle ear
|
0000389 | |
Chronic pulmonary obstruction | 0006510 | ||
Fever | 0001945 | ||
Decreased immune function
|
0002721 | ||
Lymphopenia |
Decreased blood lymphocyte number
Low lymphocyte number
[ more ] |
0001888 | |
Prolonged bleeding time | 0003010 | ||
Recurrent respiratory infections |
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ] |
0002205 | |
Sinusitis |
Sinus inflammation
|
0000246 | |
Spontaneous hematomas | 0007420 | ||
Thrombocytopenia |
Low platelet count
|
0001873 | |
30%-79% of people have these symptoms | |||
Abnormal eosinophil morphology | 0001879 | ||
Autoimmunity |
Autoimmune disease
Autoimmune disorder
[ more ] |
0002960 | |
Dyspnea |
Trouble breathing
|
0002094 | |
Fatigue |
Tired
Tiredness
[ more ] |
0012378 | |
Hematemesis |
Vomitting blood
|
0002248 | |
Hematochezia |
Rectal bleeding
|
0002573 | |
Hemolytic |
0001878 | ||
Inflammation of the large intestine | 0002037 | ||
Microcytic anemia | 0001935 | ||
Petechiae | 0000967 | ||
Specific learning disability | 0001328 | ||
5%-29% of people have these symptoms | |||
Abnormal platelet function | 0011869 | ||
Abnormality of the menstrual cycle | 0000140 | ||
Acute leukemia | 0002488 | ||
Joint inflammation
|
0001369 | ||
Blepharitis |
Inflammation of eyelids
|
0000498 | |
Chest pain | 0100749 | ||
Chronic leukemia | 0005558 | ||
Conjunctivitis |
Pink eye
|
0000509 | |
Eczema | 0000964 | ||
Epistaxis |
Bloody nose
Frequent nosebleeds
Nose bleed
Nose bleeding
Nosebleed
[ more ] |
0000421 | |
Gingival bleeding |
Bleeding gums
|
0000225 | |
Glomerulopathy | 0100820 | ||
Hyperostosis |
Bone overgrowth
|
0100774 | |
Hypoplasia of the thymus |
Small thymus
|
0000778 | |
Intracranial hemorrhage |
Bleeding within the skull
|
0002170 | |
Keratitis |
Corneal inflammation
|
0000491 | |
Lymphoma |
Cancer of lymphatic system
|
0002665 | |
0001287 | |||
Nephropathy | 0000112 | ||
Neutropenia |
Low blood neutrophil count
Low neutrophil count
[ more ] |
0001875 | |
0009830 | |||
Recurrent intrapulmonary hemorrhage |
Recurrent bleeding into lungs
|
0006535 | |
Sepsis |
Infection in blood stream
|
0100806 | |
Skin ulcer |
Open skin sore
|
0200042 | |
Sudden cardiac death |
Premature sudden cardiac death
|
0001645 | |
Urticaria |
Hives
|
0001025 | |
Vasculitis |
Inflammation of blood vessel
|
0002633 | |
Percent of people who have these symptoms is not available through HPO | |||
Abnormal delayed hypersensitivity skin test | 0002963 | ||
Absent microvilli on the surface of peripheral blood |
0002971 | ||
Decreased circulating total IgM | 0002850 | ||
Decreased mean platelet volume |
Small platelet size
Small platelets
Small platelets size
[ more ] |
0005537 | |
Decreased specific anti-polysaccharide |
0002848 | ||
Increased circulating IgA level | 0003261 | ||
Increased circulating IgE level |
Related diseasesRelated diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
OrganizationsSupport 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
Organizations Providing General Support
Learn moreThese 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
In-Depth Information
References
Rare Rheumatology News |