| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 4 (39.0%) |
17395558 |
A case report of a patient with microcephaly, facial dysmorphism, chromosomal radiosensitivity and telomere length alterations closely resembling "Nijmegen breakage syndrome" phenotype. Berardinelli F, di Masi A, Salvatore M, Banerjee S, Myung K, De Villartay JP, Revy P, Plebani A, Soresina A, Taruscio D, Tanzarella C, Antoccia A. Eur J Med Genet. 2007;50(3):176-87. |
| Congenital microcephaly | ||
| MRE11 NBN RAD50 | ||
| Cell Cycle Proteins Chromosomes, Human Craniofacial Abnormalities DNA Repair Females Homo sapiens Male Microcephaly Nijmegen Breakage Syndrome Nuclear Proteins Phenotype Radiation Tolerance | ||
| 4 (39.0%) |
16936912 |
A duplication dup(4)(q28q35.2) de novo in a newborn. Cernakova I, Kvasnicova M, Lovasova Z, Badova N, Drabek J, Bouchalova K, Trojanec R, Hajduch M. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2006;150(1):113-6. |
| Microcephaly | ||
| NBN | ||
| |DEL|657|5 | ||
| Atrial Septal Defects Chromosome Aberrations Chromosomes, Human, Pair 4 Face Fluorescent in Situ Hybridization Homo sapiens Infant, Newborn Male | ||
| 4 (39.0%) |
16415040 |
Mild Nijmegen breakage syndrome phenotype due to alternative splicing. Varon R, Dutrannoy V, Weikert G, Tanzarella C, Antoccia A, Stockl L, Spadoni E, Kruger LA, di Masi A, Sperling K, Digweed M, Maraschio P. Hum Mol Genet. 2006;15(5):679-89. |
| Microcephaly | ||
| NBN | ||
| c|INS|742|GG rs1057517104 rs1554560352 rs574673404 rs61753717 rs751567476 rs772005832 rs775397477 rs786201965 rs864309670 rs864622090 rs876659666 rs931715719 | ||
| Alternative Splicing Animals Cell Cycle Proteins Chromosome Aberrations Chromosome Breakage Cultured Cells Exons Females Fibroblasts Genes, Recessive Genetic Complementation Test Homo sapiens Homozygote Mice, Knockout Middle Aged Mus Nuclear Proteins Phenotype Precipitin Tests Retroviridae Reverse Transcriptase Polymerase Chain Reaction Sequence Deletion Tertiary Protein Structure | ||
| 4 (39.0%) |
16088910 |
A patient with mutations in DNA Ligase IV: clinical features and overlap with Nijmegen breakage syndrome. Ben-Omran TI, Cerosaletti K, Concannon P, Weitzman S, Nezarati MM. Am J Med Genet A. 2005;137A(3):283-7. |
| Microcephaly | ||
| LIG4 NBN | ||
| c|SUB|C|2440|T;RS#:104894419 p|SUB|R|814|X;RS#:104894419 rs104894419 rs780879476 | ||
| Child, Preschool Chromosome Aberrations Chromosome Breakage Cultured Cells DNA Ligase ATP DNA Ligases Developmental Disabilities Differential Diagnosis Face Fibroblasts Growth Disorders Homo sapiens Male Microcephaly Mutation Syndrome Western Blotting | ||
| 4 (39.0%) |
15474156 |
Rhabdomyosarcoma in Nijmegen breakage syndrome: strong association with perianal primary site. Meyer S, Kingston H, Taylor AM, Byrd PJ, Last JI, Brennan BM, Trueman S, Kelsey A, Taylor GM, Eden OB. Cancer Genet Cytogenet. 2004;154(2):169-74. |
| Microcephaly | ||
| NBN | ||
| rs587780100 |DEL|698|4 | ||
| Anus Neoplasms Base Sequence Cell Cycle Proteins Child Chromosome Breakage Facies Females Growth Disorders Homo sapiens Microcephaly Nuclear Proteins Rhabdomyosarcoma Sequence Deletion Soft Tissue Neoplasms Syndrome | ||
| 4 (39.0%) |
15451479 |
The clinical and biological overlap between Nijmegen Breakage Syndrome and Fanconi anemia. Gennery AR, Slatter MA, Bhattacharya A, Barge D, Haigh S, O'Driscoll M, Coleman R, Abinun M, Flood TJ, Cant AJ, Jeggo PA. Clin Immunol. 2004;113(2):214-9. |
| Microcephaly | ||
| NBN | ||
| rs121908974 | ||
| Cell Cycle Proteins Chromosome Breakage Differential Diagnosis Fanconi Anemia Females Homo sapiens Immunoglobulins Infant, Newborn Lymphocyte Male Mutation Nuclear Proteins Phenotype T-Cell Receptor Western Blotting | ||
| 4 (39.0%) |
15449558 |
[Clinical, cytogenetic and molecular characterization of a new case of Nijmegen breakage syndrome in Chile]. Marcelain K, Aracena M, Be C, Navarrete CL, Moreno R, Santos M, Pincheira J. Rev Med Chil. 2004;132(2):211-8. |
| Microcephaly | ||
| NBN | ||
| |DEL|657|5 | ||
| Child Chile Chromosomal Instability Chromosome Aberrations Homo sapiens Immunologic Deficiency Syndromes Male Mutation | ||
| 4 (39.0%) |
15339696 |
T-cell lymphoblastic leukemia/lymphoma in Nijmegen breakage syndrome. Pasic S, Vujic D, Fiorini M, Notarangelo LD. Haematologica. 2004;89(8):ECR27. |
| Microcephaly | ||
| Cancer Vaccines Females Homo sapiens Nijmegen Breakage Syndrome Precursor Cell Lymphoblastic Leukemia Lymphoma T-Cell Lymphoma | ||
| 4 (39.0%) |
12973659 |
Nijmegen breakage syndrome: a neuropathological study. Lammens M, Hiel JA, Gabreels FJ, van Engelen BG, van den Heuvel LP, Weemaes CM. Neuropediatrics. 2003;34(4):189-93. |
| Microcephaly | ||
| NBN | ||
| Adult Brain Cell Cycle Proteins Child Child, Preschool Chromosome Breakage DNA Repair Fatal Outcome Homo sapiens Infant Magnetic Resonance Imaging Male Nuclear Proteins | ||
| 4 (39.0%) |
12621246 |
Medulloblastoma with adverse reaction to radiation therapy in nijmegen breakage syndrome. Bakhshi S, Cerosaletti KM, Concannon P, Bawle EV, Fontanesi J, Gatti RA, Bhambhani K. J Pediatr Hematol Oncol. 2003;25(3):248-51. |
| Microcephaly | ||
| NBN | ||
| c|DEL|1142|C;RS#:587781969 rs587781969 |DEL|675|5 | ||
| Cerebellar Neoplasms Child, Preschool Chromosome Breakage Face Growth Disorders Homo sapiens Intellectual Disability Male Medulloblastoma |
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 |