| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (50.0%) |
11420915 |
Henoch-Schonlein purpura in Wiskott-Aldrich syndrome. Duzova A, Topaloglu R, Sanal O, Kilic S, Mazza C, Besbas N, Bakkaloglu A. Pediatr Nephrol. 2001;16(6):500-2. |
| Purpura Abnormal glycosylation | ||
| Henoch-Schoenlein Purpura Homo sapiens Infant Kidney Male Wiskott-Aldrich Syndrome | ||
| 2 (49.4%) |
10733494 |
Mapping of a syndrome of X-linked thrombocytopenia with Thalassemia to band Xp11-12: further evidence of genetic heterogeneity of X-linked thrombocytopenia. Raskind WH, Niakan KK, Wolff J, Matsushita M, Vaughan T, Stamatoyannopoulos G, Watanabe C, Rios J, Ochs HD. Blood. 2000;95(7):2262-8. |
| Eczema Splenomegaly Reticulocytosis | ||
| GATA1 | ||
| rs104894809 | ||
| Chromosome Mapping Heterozygote Homo sapiens Male Northern Blotting Proteins Thalassemia Thrombocytopenia Western Blotting Wiskott-Aldrich Syndrome Protein X Chromosome | ||
| 3 (44.2%) |
15547918 |
Epstein-Barr virus associated post-transplantation lymphoproliferative disorder with hemophagocytosis in a child with Wiskott-Aldrich syndrome. Wang IJ, Lu MY, Chiang BL, Lin WC, Lin DT, Lin KH. Pediatr Blood Cancer. 2005;45(3):340-3. |
| Hepatosplenomegaly Pancytopenia Fever | ||
| Bone Marrow Transplantation Epstein-Barr Virus Infections Fatal Outcome Histiocytosis, Non-Langerhans-Cell Homo sapiens Infant Lymphoproliferative Disorders Male Wiskott-Aldrich Syndrome X-Ray Computed Tomography | ||
| 4 (39.1%) |
22736231 |
Wiskott-Aldrich syndrome with unusual clinical features similar to juvenile myelomonocytic leukemia. Sano H, Kobayashi R, Suzuki D, Yasuda K, Nakanishi M, Nagashima T, Yamada M, Kobayashi K. Int J Hematol. 2012;96(2):279-83. |
| Eczema Splenomegaly Thrombocytopenia | ||
| CBL CSF2 NF1 PTPN11 WAS | ||
| Base Sequence Biopsy Bone Marrow Bone Marrow Transplantation Differential Diagnosis Genotype Homo sapiens Infant, Newborn Juvenile Myelomonocytic Leukemia Male Mutation Transplantation, Homologous Wiskott-Aldrich Syndrome Wiskott-Aldrich Syndrome Protein | ||
| 4 (39.1%) |
1316718 |
Coincident Kaposi sarcoma and T-cell lymphoma in a patient with the Wiskott-Aldrich syndrome. Meropol NJ, Hicks D, Brooks JJ, Siminovitch KA, Fishman NO, Kant JA, Bennett JS. Am J Hematol. 1992;40(2):126-34. |
| Splenomegaly Thrombocytopenia | ||
| NEU1 SPN | ||
| Adult Biopsy Cytomegalovirus DNA, Viral Enzyme-Linked Immunosorbent Assay HIV Homo sapiens Kaposi Sarcoma Male Polymerase Chain Reaction Spleen T-Cell Lymphoma T-Lymphocyte Time Factors Wiskott-Aldrich Syndrome | ||
| 6 (38.5%) |
29200320 |
Wiskott-Aldrich syndrome: Two case reports with a novel mutation. Kamuran K, Cetin M, Geylan H, Karaman S, Demir N, Yurekturk E, Yavuz , Yavuz G, Tuncer O. Pediatr Hematol Oncol. 2017;34(5):286-291. |
| Eczema Anemia | ||
| p|L,DUP|393,1178|T | ||
| Hemizygote Homo sapiens Infant Male Mutation Protein Domain Wiskott-Aldrich Syndrome Wiskott-Aldrich Syndrome Protein | ||
| 7 (38.5%) |
14981635 |
IgA nephropathy associated with X-linked thrombocytopenia. Matsukura H, Kanegane H, Miya K, Ohtsubo K, Higuchi A, Tanizawa T, Miyawaki T. Am J Kidney Dis. 2004;43(3):e7-12. |
| Nephropathy Thrombocytopenia Immunodeficiency Abnormal glycosylation | ||
| CD79A | ||
| Child Genetic Diseases, X-Linked Homo sapiens IGA Glomerulonephritis Male Thrombocytopenia Wiskott-Aldrich Syndrome | ||
| 8 (38.0%) |
27566838 |
Sclerosing cholangitis and intracranial lymphoma in a child with classical Wiskott-Aldrich syndrome. Vignesh P, Suri D, Rawat A, Lau YL, Bhatia A, Das A, Srinivasan A, Dhandapani S. Pediatr Blood Cancer. 2017;64(1):106-109. |
| Eczema Thrombocytopenia Hepatomegaly | ||
| c|SUB|C|155|T p|SUB|R|41|X | ||
| Brain Neoplasms Cholangitis, Sclerosing Homo sapiens Lymphoma, Non-Hodgkin Male Mutation Thrombocytopenia Wiskott-Aldrich Syndrome Wiskott-Aldrich Syndrome Protein | ||
| 8 (38.0%) |
18090932 |
Wiskott-Aldrich syndrome is an important differential diagnosis in male infants with juvenile myelomonocytic leukemialike features. Watanabe N, Yoshimi A, Kamachi Y, Kawabe T, Muramatsu H, Matsumoto K, Manabe A, Kojima S, Kato K. J Pediatr Hematol Oncol. 2007;29(12):836-8. |
| Eczema Thrombocytopenia Hepatomegaly | ||
| WAS | ||
| Differential Diagnosis Homo sapiens Infant, Newborn Male Wiskott-Aldrich Syndrome Wiskott-Aldrich Syndrome Protein | ||
| 8 (38.0%) |
1793157 |
Early bone marrow transplantation in an infant with Wiskott-Aldrich syndrome. Beard LJ, Toogood IR, Pearson CC, Ferrante A. Am J Pediatr Hematol Oncol. 1991;13(3):310-4. |
| Eczema Thrombocytopenia Hepatomegaly | ||
| Age Factors Bone Marrow Transplantation Follow-Up Studies Homo sapiens Immunocompromised Host Immunoglobulins Infant Male Pulmonary Fibrosis Wiskott-Aldrich Syndrome |
Total: 57
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000246 | Sinusitis | Very frequent (99-80%) |
| HP:0000388 | Otitis media | Very frequent (99-80%) |
| HP:0000389 | Chronic otitis media | Very frequent (99-80%) |
| HP:0000978 | Bruising susceptibility | Very frequent (99-80%) |
| HP:0001873 | Thrombocytopenia | Very frequent (99-80%) |
| HP:0001888 | Lymphopenia | Very frequent (99-80%) |
| HP:0001945 | Fever | Very frequent (99-80%) |
| HP:0002028 | Chronic diarrhea | Very frequent (99-80%) |
| HP:0002205 | Recurrent respiratory infections | Very frequent (99-80%) |
| HP:0002721 | Immunodeficiency | Very frequent (99-80%) |
| HP:0003010 | Prolonged bleeding time | Very frequent (99-80%) |
| HP:0006510 | Chronic obstructive pulmonary disease | Very frequent (99-80%) |
| HP:0007420 | Spontaneous hematomas | Very frequent (99-80%) |
| HP:0011029 | Internal hemorrhage | Very frequent (99-80%) |
| HP:0011875 | Abnormal platelet morphology | Very frequent (99-80%) |
| HP:0000967 | Petechiae | Frequent (79-30%) |
| HP:0000979 | Purpura | Frequent (79-30%) |
| HP:0001328 | Specific learning disability | Frequent (79-30%) |
| HP:0001878 | Hemolytic anemia | Frequent (79-30%) |
| HP:0001879 | Abnormal eosinophil morphology | Frequent (79-30%) |
| HP:0001903 | Anemia | Frequent (79-30%) |
| HP:0001935 | Microcytic anemia | Frequent (79-30%) |
| HP:0002037 | Inflammation of the large intestine | Frequent (79-30%) |
| HP:0002094 | Dyspnea | Frequent (79-30%) |
| HP:0002248 | Hematemesis | Frequent (79-30%) |
| HP:0002573 | Hematochezia | Frequent (79-30%) |
| HP:0002960 | Autoimmunity | Frequent (79-30%) |
| HP:0011675 | Arrhythmia | Frequent (79-30%) |
| HP:0012378 | Fatigue | Frequent (79-30%) |
| HP:0000112 | Nephropathy | Occasional (29-5%) |
| HP:0000140 | Abnormality of the menstrual cycle | Occasional (29-5%) |
| HP:0000225 | Gingival bleeding | Occasional (29-5%) |
| HP:0000421 | Epistaxis | Occasional (29-5%) |
| HP:0000491 | Keratitis | Occasional (29-5%) |
| HP:0000498 | Blepharitis | Occasional (29-5%) |
| HP:0000509 | Conjunctivitis | Occasional (29-5%) |
| HP:0000778 | Hypoplasia of the thymus | Occasional (29-5%) |
| HP:0000964 | Eczema | Occasional (29-5%) |
| HP:0001025 | Urticaria | Occasional (29-5%) |
| HP:0001287 | Meningitis | Occasional (29-5%) |
| HP:0001369 | Arthritis | Occasional (29-5%) |
| HP:0001645 | Sudden cardiac death | Occasional (29-5%) |
| HP:0001875 | Neutropenia | Occasional (29-5%) |
| HP:0002170 | Intracranial hemorrhage | Occasional (29-5%) |
| HP:0002488 | Acute leukemia | Occasional (29-5%) |
| HP:0002633 | Vasculitis | Occasional (29-5%) |
| HP:0002664 | Neoplasm | Occasional (29-5%) |
| HP:0002665 | Lymphoma | Occasional (29-5%) |
| HP:0005558 | Chronic leukemia | Occasional (29-5%) |
| HP:0006535 | Recurrent intrapulmonary hemorrhage | Occasional (29-5%) |
| HP:0009830 | Peripheral neuropathy | Occasional (29-5%) |
| HP:0011869 | Abnormal platelet function | Occasional (29-5%) |
| HP:0100749 | Chest pain | Occasional (29-5%) |
| HP:0100774 | Hyperostosis | Occasional (29-5%) |
| HP:0100806 | Sepsis | Occasional (29-5%) |
| HP:0100820 | Glomerulopathy | Occasional (29-5%) |
| HP:0200042 | Skin ulcer | Occasional (29-5%) |
Total: 44
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0001873 | Thrombocytopenia | 67 |
| HP:0000964 | Eczema | 63 |
| HP:0002721 | Immunodeficiency | 38 |
| HP:0002719 | Recurrent infections | 16 |
| HP:0002960 | Autoimmunity | 7 |
| HP:0005523 | Lymphoproliferative disorder | 5 |
| HP:0001905 | Congenital thrombocytopenia | 4 |
| HP:0002617 | Dilatation | 3 |
| HP:0100806 | Sepsis | 3 |
| HP:0000099 | Glomerulonephritis | 2 |
| HP:0000112 | Nephropathy | 2 |
| HP:0001875 | Neutropenia | 2 |
| HP:0004942 | Aortic aneurysm | 2 |
| HP:0012727 | Thoracic aortic aneurysm | 2 |
| HP:0025085 | Bloody diarrhea | 2 |
| HP:0000403 | Recurrent otitis media | 1 |
| HP:0000501 | Glaucoma | 1 |
| HP:0000969 | Edema | 1 |
| HP:0000979 | Purpura | 1 |
| HP:0001369 | Arthritis | 1 |
| HP:0001659 | Aortic regurgitation | 1 |
| HP:0001744 | Splenomegaly | 1 |
| HP:0001878 | Hemolytic anemia | 1 |
| HP:0002014 | Diarrhea | 1 |
| HP:0002027 | Abdominal pain | 1 |
| HP:0002170 | Intracranial hemorrhage | 1 |
| HP:0002584 | Intestinal bleeding | 1 |
| HP:0006562 | Viral hepatitis | 1 |
| HP:0008940 | Generalized lymphadenopathy | 1 |
| HP:0011002 | Osteopetrosis | 1 |
| HP:0011410 | Caesarian section | 1 |
| HP:0012089 | Arteritis | 1 |
| HP:0012156 | Hemophagocytosis | 1 |
| HP:0012804 | Corneal ulceration | 1 |
| HP:0030253 | Defective T cell proliferation | 1 |
| HP:0032282 | Contact dermatitis | 1 |
| HP:0040012 | Chromosome breakage | 1 |
| HP:0040185 | Macrothrombocytopenia | 1 |
| HP:0100279 | Ulcerative colitis | 1 |
| HP:0100281 | Chronic colitis | 1 |
| HP:0100534 | Episcleritis | 1 |
| HP:0100646 | Thyroiditis | 1 |
| HP:0100726 | Kaposi's sarcoma | 1 |
| HP:0100774 | Hyperostosis | 1 |