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)
1
(48.8%)		 11337742
 Combined immunodeficiency, chromosomal instability, and postnatal growth deficiency in a Japanese girl.
Yamada M, Matsuura S, Tsukahara M, Ebe K, Ohtsu M, Furuta H, Kobayashi I, Kawamura N, Okano M, Shouji R, Kobayashi K.
Am J Med Genet. 2001;100(1):9-12.
Microcephaly Preaxial polydactyly
NBN
Child Chromosome Aberrations Females Growth Disorders Homo sapiens Immunoglobulins Japan Severe Combined Immunodeficiency
1
(48.8%)		 10799436
 Nijmegen breakage syndrome. The International Nijmegen Breakage Syndrome Study Group.
.
Arch Dis Child. 2000;82(5):400-6.
Microcephaly Syndactyly
MRE11 NBN RAD50
c|DEL|657_661|ACAAA;RS#:587776650 rs587781969
Adult Chromosome Breakage Chromosomes, Human, Pair 8 Common Variable Immunodeficiency Congenital Abnormality Facies Genetic Predisposition to Disease Genotype Homo sapiens Microcephaly Mutation Neoplasms Phenotype Radiation Tolerance Registries Syndrome
3
(40.2%)		 11427422
 Role of Nijmegen breakage syndrome protein in specific T-lymphocyte activation pathways.
Garcia-Perez MA, Allende LM, Corell A, Paz-Artal E, Varela P, Lopez-Goyanes A, Garcia-Martin F, Vazquez R, Sotoca A, Arnaiz-Villena A.
Clin Diagn Lab Immunol. 2001;8(4):757-61.
Microcephaly Bird-like facies
CD4 NBN
B-Lymphocytes CD4 Positive T Lymphocytes CD8-Positive T-Lymphocytes Cell Cycle Proteins Child Chromosome Breakage Homo sapiens Lectin Lymphocyte Activation Male Mitogens Mutation Nuclear Proteins Syndrome T-Lymphocyte Tetradecanoylphorbol Acetate
4
(39.0%)		 30209074
 Nijmegen Breakage Syndrome Complicated With Primary Pulmonary Granulomas.
Marczak H, Heropolitanska-Pliszka E, Langfort R, Roik D, Grzela K.
Pediatrics. 2018;142(4):.
Microcephaly
NBN
Child Granuloma Homo sapiens Lung Neoplasms Male Nijmegen Breakage Syndrome
4
(39.0%)		 29706645
 Identification of variants in pleiotropic genes causing "isolated" premature ovarian insufficiency: implications for medical practice.
Tucker EJ, Grover SR, Robevska G, van den Bergen J, Hanna C, Sinclair AH.
Eur J Hum Genet. 2018;26(9):1319-1328.
Microcephaly
EIF2B2 NBN
rs113994016 rs1554563822 rs758398310
Cell Cycle Proteins Codon, Nonsense Eukaryotic Initiation Factor-2B Females Genetic Pleiotropy Homo sapiens Nuclear Proteins Ovarian Failure, Premature Sequence Analysis, DNA Young Adult
4
(39.0%)		 28960803
 Clinical Report: Warsaw Breakage Syndrome with small radii and fibulae.
Eppley S, Hopkin RJ, Mendelsohn B, Slavotinek AM.
Am J Med Genet A. 2017;173(11):3075-3081.
Microcephaly
c|SUB|G|1949-1|A;RS#:779058797 c|SUB|G|IVS19-1|A c|SUB|T|1523|G p|SUB|L|508|R
Child Chromosome Breakage DEAD-box RNA Helicases DNA Helicases Fanconi Anemia Females Genetic Predisposition to Disease Gonadal Dysgenesis Homo sapiens Intellectual Disability Mutation Phenotype
4
(39.0%)		 27844240
 Identification of a rare germline NBN gene mutation by whole exome sequencing in a lung-cancer survivor from a large family with various types of cancer.
Marafie MJ, Dashti M, Al-Mulla F.
Fam Cancer. 2017;16(3):389-394.
Microcephaly
BRCA1 NBN RAD50
c|DEL|93_94|TG;RS#:864622253 c|SUB|A|1648|C;RS#:56012641 c|SUB|A|536|G c|SUB|G|3539|A;RS#:369788398 p|SUB|N|550|H;RS#:56012641 p|SUB|R|1180|Q;RS#:369788398 p|SUB|Y|179|C rs55906931
Adenocarcinoma Adult Cancer Survivors Cell Cycle Proteins Females Genetic Predisposition to Disease Germ-Line Mutation Homo sapiens Lung Neoplasms Male Middle Aged Nuclear Proteins Whole Exome Sequencing
4
(39.0%)		 25523867
 Reduced-intensity conditioning umbilical cord blood transplantation in Nijmegen breakage syndrome.
Wozniak M, Krzywon M, Holda MK, Gozdzik J.
Pediatr Transplant. 2015;19(2):E51-5.
Microcephaly
NBN
Child, Preschool Chromosome Aberrations Cord Blood Stem Cell Transplantation Females Genotype Homo sapiens Immunologic Deficiency Syndromes Mutation Nijmegen Breakage Syndrome Polymerase Chain Reaction Tissue Donors Transplantation Chimera Transplantation Conditioning
4
(39.0%)		 24428841
(3898043)
 An adult patient with Nijmegen Breakage Syndrome and Hodgkin's Lymphoma.
Engel K, Rudelius M, Meinel FG, Peschel C, Keller U.
BMC Hematol. 2014;14(1):2.
Microcephaly
4
(39.0%)		 24044622
(3849883)
 Nijmegen breakage syndrome and chronic polyarthritis.
Pasic S, Cupic M, Jovanovic T, Djukic S, Kavaric M, Lazarevic I.
Ital J Pediatr. 2013;39:59.
Microcephaly
Anti-Inflammatory Agents, Non-Steroidal Antibodies, Monoclonal, Murine-Derived Antirheumatic Agents Arthritis Child Combination Drug Therapy Females Follow-Up Studies Health Risk Assessment Homo sapiens Nijmegen Breakage Syndrome Rare Diseases Severity of Illness Index
        

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