Nijmegen breakage syndrome

Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections.



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Narrow down the case reports



Total: 57 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
4
(39.0%)		 23550270
(3575000)
 Cutaneous sarcoid-like granulomas in a child known with nijmegen breakage syndrome.
Liana RA, Dan G, Nicolae M.
Iran J Pediatr. 2013;23(1):100-4.
Microcephaly
NBN
4
(39.0%)		 21227757
 Two unrelated patients with MRE11A mutations and Nijmegen breakage syndrome-like severe microcephaly.
Matsumoto Y, Miyamoto T, Sakamoto H, Izumi H, Nakazawa Y, Ogi T, Tahara H, Oku S, Hiramoto A, Shiiki T, Fujisawa Y, Ohashi H, Sakemi Y, Matsuura S.
DNA Repair (Amst). 2011;10(3):314-21.
Microcephaly
MRE11 NBN RAD50
rs759130031 rs876659042
Adult Apraxias Ataxia Telangiectasia Ataxia Telangiectasia Mutated Proteins Base Sequence Cell Cycle Proteins Cerebellar Ataxia Child, Preschool DNA Mutational Analysis DNA-Binding Proteins Enzyme Activation Females G2 Phase Homo sapiens Hypoalbuminemia Infant MRE11 Homologue Protein Male Microcephaly Mutation Nijmegen Breakage Syndrome Pregnancy Protein-Serine-Threonine Kinases Radiation Tolerance Tumor Suppressor Proteins
4
(39.0%)		 20924312
 Nijmegen breakage syndrome complicated with primary cutaneous tuberculosis.
Erdos M, Toth B, Veres I, Kiss M, Remenyik E, Marodi L.
Pediatr Infect Dis J. 2011;30(4):359-60.
Microcephaly
NBN
Child Females Homo sapiens Leg Mycobacterium tuberculosis Nijmegen Breakage Syndrome Skin Tuberculosis, Cutaneous
4
(39.0%)		 20353920
 [Nijmegen Breakage syndrome].
Erdos M, Toth B, Juhasz P, Mahdi M, Marodi L.
Orv Hetil. 2010;151(16):665-73.
Progressive microcephaly
NBN
Biological Markers Cell Cycle Proteins Child Differential Diagnosis Females Homo sapiens Immunity, Innate Nijmegen Breakage Syndrome Nuclear Proteins Sequence Analysis, DNA
4
(39.0%)		 19409520
 Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder.
Waltes R, Kalb R, Gatei M, Kijas AW, Stumm M, Sobeck A, Wieland B, Varon R, Lerenthal Y, Lavin MF, Schindler D, Dork T.
Am J Hum Genet. 2009;84(5):605-16.
Microcephaly
ATM MRE11 NBN RAD50
rs1085307088 rs121912628 rs121912629 rs1235022794 rs1236278956 rs1339714611 rs151131414 rs1554098466 rs587781327 rs587781625 rs587781742 rs748086984 rs761168506 rs762648843 rs764122619 rs776134250 rs786201531 rs786202011 rs786203139 rs786203738 rs867328327 rs876658784 rs876659005 rs876660685 rs876660957 rs995265408
Acid Anhydride Hydrolases Adult Ataxia Telangiectasia Mutated Proteins Cell Cycle Proteins Cell Survival Chromosomal Instability Cultured Cells DNA Damage DNA Repair Enzymes DNA-Binding Proteins Females Genetic Predisposition to Disease Germ-Line Mutation Heterozygote Homo sapiens Nijmegen Breakage Syndrome Protein-Serine-Threonine Kinases Radiation Tolerance Signal Transduction Tumor Suppressor Proteins
4
(39.0%)		 19250427
 Nijmegen breakage syndrome associated with porokeratosis.
Wolf EK, Shwayder TA.
Pediatr Dermatol. 2009;26(1):106-8.
Microcephaly
NBN
Biopsy Cell Cycle Proteins Child Facies Genes, Recessive Homo sapiens Male Nijmegen Breakage Syndrome Nuclear Proteins Porokeratosis Skin
4
(39.0%)		 19195720
 Speech impairment in Nijmegen breakage syndrome: a rare anomaly.
Gupta D, Nagarkar A.
Int J Pediatr Otorhinolaryngol. 2009;73(6):873-5.
Congenital microcephaly
Females Homo sapiens Language Tests Nijmegen Breakage Syndrome Severity of Illness Index Speech Disorders Speech Therapy
4
(39.0%)		 19125088
 Successful treatment of hodgkin lymphoma in nijmegen breakage syndrome.
Jovanovic A, Minic P, Scekic-Guc M, Djuricic S, Cirkovic S, Weemaes C, Pasic S.
J Pediatr Hematol Oncol. 2009;31(1):49-52.
Microcephaly
Antineoplastic Combined Chemotherapy Protocols Child, Preschool Females Hodgkin Disease Homo sapiens Nijmegen Breakage Syndrome Remission Induction
4
(39.0%)		 19105185
 Fertility defects revealing germline biallelic nonsense NBN mutations.
Warcoin M, Lespinasse J, Despouy G, Dubois d'Enghien C, Lauge A, Portnoi MF, Christin-Maitre S, Stoppa-Lyonnet D, Stern MH.
Hum Mutat. 2009;30(3):424-30.
Microcephaly
NBN
rs1057519585 rs1057519588 rs1394437421
Adult Base Sequence Cell Cycle Proteins Cell Line, Transformed Codon, Nonsense DNA Mutational Analysis Females Germ-Line Mutation Heterozygote Homo sapiens Infertility Male Nijmegen Breakage Syndrome Nuclear Proteins Sibling Western Blotting
4
(39.0%)		 18186968
 Successful treatment of diffuse large B-cell non-hodgkin lymphoma with modified CHOP (cyclophosphamide/doxorubicin/vincristine/prednisone) chemotherapy and rituximab in a patient with Nijmegen syndrome.
Dumic M, Radman I, Krnic N, Nola M, Kusec R, Begovic D, Labar B, Rados M.
Clin Lymphoma Myeloma. 2007;7(9):590-3.
Microcephaly
KRT20 NBN
|DEL|657|5
Antibodies, Monoclonal, Murine-Derived Antineoplastic Combined Chemotherapy Protocols B-Cell Lymphomas Homo sapiens Male Monoclonal Antibodies Nijmegen Breakage Syndrome
        

Phenotype(s) retrieved from Orphanet

    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%)


Phenotype(s) retrieved from case reports

    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


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
NBN nibrin 4683