| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 45 (4.0%) |
12845481 |
T-cell prolymphocytic leukemia with autoimmune manifestations in Nijmegen breakage syndrome. Michallet AS, Lesca G, Radford-Weiss I, Delarue R, Varet B, Buzyn A. Ann Hematol. 2003;82(8):515-517. |
| Thrombocytopenia | ||
| Antibiotics, Antineoplastic Cytogenetic Analysis Genes, Recessive Glucocorticoids Growth Disorders Homo sapiens Immunologic Deficiency Syndromes Infant, Newborn Intellectual Disability Leukemia, T-Cell Male Microcephaly Prolymphocytic Leukemia Syndrome | ||
| 45 (4.0%) |
12764742 |
Fatal toxicity following radio- and chemotherapy of medulloblastoma in a child with unrecognized Nijmegen breakage syndrome. Distel L, Neubauer S, Varon R, Holter W, Grabenbauer G. Med Pediatr Oncol. 2003;41(1):44-8. |
| Immunodeficiency | ||
| NBN | ||
| |DEL|657|5 | ||
| Antineoplastic Combined Chemotherapy Protocols Cell Cycle Proteins Child Chromosome Breakage Fatal Outcome Homo sapiens Infratentorial Neoplasms Male Medulloblastoma Nuclear Proteins Polymerase Chain Reaction Sudden Cardiac Death Syndrome Western Blotting | ||
| 45 (4.0%) |
12702161 |
Genetic heterogeneity for a Nijmegen breakage-like syndrome. Maraschio P, Spadoni E, Tanzarella C, Antoccia A, Di Masi A, Maghnie M, Varon R, Demuth I, Tiepolo L, Danesino C. Clin Genet. 2003;63(4):283-90. |
| Immunodeficiency | ||
| LIG4 MRE11 NBN RAD50 | ||
| Cell Cycle Proteins Child, Preschool Chromosome Breakage DNA Mutational Analysis Flow Cytometry Homo sapiens Immunoblotting Infant Infant, Newborn Male Nuclear Proteins Radiation Tolerance Syndrome | ||
| 45 (4.0%) |
12160977 |
Cavernous sinus thrombophlebitis in Nijmegen breakage syndrome. Hibner E, Wendorff J, Ircha G, Piotrowicz M, Zeman K. Pediatr Neurol. 2002;27(1):62-4. |
| Cerebral edema | ||
| Cavernous Sinus Thrombosis Chromosome Breakage Females Headache Homo sapiens Magnetic Resonance Imaging | ||
| 45 (4.0%) |
8230917 |
[A case report of BWG syndrome in an elderly patient performed with mitral valve replacement 11 years after single CABG]. Nakano H, Shimakura T, Katsumata T, Shimamura Y, Hoshino K, Harada T, Maejima F, Kono H, Asakawa K, Yabuki A, et al.. Kyobu Geka. 1993;46(11):976-9. |
| Cardiomegaly | ||
| Coronary Artery Bypass Surgery Coronary Vessel Anomalies Females Heart Valve Prosthesis Homo sapiens Middle Aged Mitral Valve Mitral Valve Insufficiency Syndrome | ||
| 45 (4.0%) |
6828038 |
Hypersensitivity to ionizing radiation, in vitro, in a new chromosomal breakage disorder, the Nijmegen Breakage Syndrome. Taalman RD, Jaspers NG, Scheres JM, de Wit J, Hustinx TW. Mutat Res. 1983;112(1):23-32. |
| Chromosome breakage | ||
| Cell Survival Chromosome Aberrations Chromosome Fragility Chromosomes DNA Repair DNA Replication Homo sapiens Male Roentgen Rays Syndrome | ||
| 45 (4.0%) |
1887849 |
Chromosome instability and X-ray hypersensitivity in a microcephalic and growth-retarded child. Barbi G, Scheres JM, Schindler D, Taalman RD, Rodens K, Mehnert K, Muller M, Seyschab H. Am J Med Genet. 1991;40(1):44-50. |
| Telangiectasia | ||
| AFP | ||
| Cell Cycle Chromosome Aberrations Chromosomes, Human, Pair 14 Chromosomes, Human, Pair 7 DNA Replication Females Fetal Growth Retardation Fibroblasts Homo sapiens Immunoglobulins Infant, Newborn Lymphocyte Lymphocyte Activation Microcephaly Mitosis Roentgen Rays Syndrome |
Total: 49
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000252 | Microcephaly | Very frequent (99-80%) |
| HP:0000271 | Abnormality of the face | Very frequent (99-80%) |
| HP:0000278 | Retrognathia | Very frequent (99-80%) |
| HP:0000294 | Low anterior hairline | Very frequent (99-80%) |
| HP:0000340 | Sloping forehead | Very frequent (99-80%) |
| HP:0000364 | Hearing abnormality | Very frequent (99-80%) |
| HP:0000400 | Macrotia | Very frequent (99-80%) |
| HP:0000426 | Prominent nasal bridge | Very frequent (99-80%) |
| HP:0000444 | Convex nasal ridge | Very frequent (99-80%) |
| HP:0000448 | Prominent nose | Very frequent (99-80%) |
| HP:0000470 | Short neck | Very frequent (99-80%) |
| HP:0000582 | Upslanted palpebral fissure | Very frequent (99-80%) |
| HP:0001268 | Mental deterioration | Very frequent (99-80%) |
| HP:0001595 | Abnormal hair morphology | Very frequent (99-80%) |
| HP:0001873 | Thrombocytopenia | Very frequent (99-80%) |
| HP:0001878 | Hemolytic anemia | Very frequent (99-80%) |
| HP:0001890 | Autoimmune hemolytic anemia | Very frequent (99-80%) |
| HP:0002002 | Deep philtrum | Very frequent (99-80%) |
| HP:0002023 | Anal atresia | Very frequent (99-80%) |
| HP:0002025 | Anal stenosis | Very frequent (99-80%) |
| HP:0002028 | Chronic diarrhea | Very frequent (99-80%) |
| HP:0002205 | Recurrent respiratory infections | Very frequent (99-80%) |
| HP:0003220 | Abnormality of chromosome stability | Very frequent (99-80%) |
| HP:0004322 | Short stature | Very frequent (99-80%) |
| HP:0004326 | Cachexia | Very frequent (99-80%) |
| HP:0005280 | Depressed nasal bridge | Very frequent (99-80%) |
| HP:0005425 | Recurrent sinopulmonary infections | Very frequent (99-80%) |
| HP:0006532 | Recurrent pneumonia | Very frequent (99-80%) |
| HP:0007018 | Attention deficit hyperactivity disorder | Very frequent (99-80%) |
| HP:0011362 | Abnormal hair quantity | Very frequent (99-80%) |
| HP:0012732 | Anorectal anomaly | Very frequent (99-80%) |
| HP:0002664 | Neoplasm | Frequent (79-30%) |
| HP:0100515 | Pollakisuria | Frequent (79-30%) |
| HP:0000175 | Cleft palate | Occasional (29-5%) |
| HP:0000492 | Abnormal eyelid morphology | Occasional (29-5%) |
| HP:0000992 | Cutaneous photosensitivity | Occasional (29-5%) |
| HP:0001324 | Muscle weakness | Occasional (29-5%) |
| HP:0001480 | Freckling | Occasional (29-5%) |
| HP:0002269 | Abnormality of neuronal migration | Occasional (29-5%) |
| HP:0002488 | Acute leukemia | Occasional (29-5%) |
| HP:0002665 | Lymphoma | Occasional (29-5%) |
| HP:0002859 | Rhabdomyosarcoma | Occasional (29-5%) |
| HP:0002878 | Respiratory failure | Occasional (29-5%) |
| HP:0003011 | Abnormality of the musculature | Occasional (29-5%) |
| HP:0003202 | Skeletal muscle atrophy | Occasional (29-5%) |
| HP:0009733 | Glioma | Occasional (29-5%) |
| HP:0012190 | T-cell lymphoma | Occasional (29-5%) |
| HP:0012191 | B-cell lymphoma | Occasional (29-5%) |
| HP:0100335 | Non-midline cleft lip | Occasional (29-5%) |
Total: 16
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000252 | Microcephaly | 17 |
| HP:0002721 | Immunodeficiency | 16 |
| HP:0000253 | Progressive microcephaly | 1 |
| HP:0000320 | Bird-like facies | 1 |
| HP:0001009 | Telangiectasia | 1 |
| HP:0001251 | Ataxia | 1 |
| HP:0001888 | Lymphopenia | 1 |
| HP:0001909 | Leukemia | 1 |
| HP:0004322 | Short stature | 1 |
| HP:0004418 | Thrombophlebitis | 1 |
| HP:0005374 | Cellular immunodeficiency | 1 |
| HP:0005387 | Combined immunodeficiency | 1 |
| HP:0005425 | Recurrent sinopulmonary infections | 1 |
| HP:0008897 | Postnatal growth retardation | 1 |
| HP:0032252 | Granuloma | 1 |
| HP:0040012 | Chromosome breakage | 1 |