{"Name":"Nijmegen breakage syndrome-like disorder","DiseaseID__c":"GARD:0017184","id":17184,"encodedName":"nijmegen-breakage-syndrome-like-disorder","IsDeleted":false,"Disease_Name_Full__c":"Nijmegen breakage syndrome-like disorder","Xref_IDs__c":"766753005; C153178; C2751318; C567767; MEDGEN:442700; MONDO:0013118; OMIM:613078; ORPHA:240760","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0013118","Disease_Description__c":"Nijmegen breakage syndrome-like disorder is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by growth retardation, short stature, developmental delay, intellectual disability, craniofacial dysmorphism (i.e. severe microcephaly, sloping forehead, prominent eyes, broad nasal ridge, hypoplastic nasal septum, epicanthal folds), spontaneous chromosomal instability, cellular hypersensitivity to ionizing radiation and radioresistant DNA synthesis, without severe infections, immunodeficiency or cancer predisposition. Additional reported features include mild spasticity, slight and nonprogressive ataxia, hyperopia, multiple pigmented nevi, widely spaced nipples, and clinodactyly.","GARD_Name__c":"Nijmegen breakage syndrome-like disorder","GARD_Synonym__c":"microcephaly and chromosomal instability without immunodeficiency; microcephaly and spontaneous chromosome instability without immunodeficiency; nbs-like (nijmegen breakage syndrome-like) disorder; nbs-like disorder; nbsld; rad50 deficiency","Curated_Disease_Description_Source__c":"MONDO:0013118","Curated_Disease_Description__c":"Nijmegen breakage syndrome-like disorder is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by growth retardation, short stature, developmental delay, intellectual disability, craniofacial dysmorphism (i.e. severe microcephaly, sloping forehead, prominent eyes, broad nasal ridge, hypoplastic nasal septum, epicanthal folds), spontaneous chromosomal instability, cellular hypersensitivity to ionizing radiation and radioresistant DNA synthesis, without severe infections, immunodeficiency or cancer predisposition. Additional reported features include mild spasticity, slight and nonprogressive ataxia, hyperopia, multiple pigmented nevi, widely spaced nipples, and clinodactyly.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:240760","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0013118","ORPHANET_ID__c":"ORPHA:240760","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Trastorno similar al síndrome de rotura de nijmegen","Spanish_Description_Source__c":"ORPHA:240760","Spanish_Description__c":"Es un síndrome dismórfico de múltiples anomalías congénitas, genético y poco frecuente, caracterizado por retraso del crecimiento, talla baja, retraso en el desarrollo, discapacidad intelectual, dismorfia craneofacial (incluyendo grave microcefalia, frente inclinada, ojos prominentes, cresta nasal ancha, tabique nasal hipoplásico, epicanto), inestabilidad cromosómica espontánea, hipersensibilidad celular a la radiación ionizante y síntesis de ADN radiorresistente, sin infecciones graves, inmunodeficiencia o predisposición al cáncer. Otras características adicionales descritas incluyen ligera espasticidad, ataxia leve y no progresiva, hipermetropía, nevos múltiples pigmentados, pezones ampliamente separados y clinodactilia.","Spanish_Disease_Name__c":"trastorno similar al síndrome de rotura de nijmegen","Spanish_GARD_Synonym__c":"deficiencia de rad50; microcefalia e inestabilidad cromosómica sin inmunodeficiencia; trastorno tipo nbs","Category_Linearization__c":"ORPHA:93890","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Nijmegen breakage syndrome-like disorder is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by growth retardation, short stature, developmental delay, intellectual disability, craniofacial dysmorphism (i.e. severe microcephaly, sloping forehead, prominent eyes, broad nasal ridge, hypoplastic nasal septum, epicanthal folds), spontaneous chromosomal instability, cellular hypersensitivity to ionizing radiation and radioresistant DNA synthesis, without severe infections, immunodeficiency or cancer predisposition. Additional reported features include mild spasticity, slight and nonprogressive ataxia, hyperopia, multiple pigmented nevi, widely spaced nipples, and clinodactyly.","Curated_Disease_Description_Source__c":"MONDO:0013118","GARD_Synonym__c":"microcephaly and chromosomal instability without immunodeficiency; microcephaly and spontaneous chromosome instability without immunodeficiency; nbs-like (nijmegen breakage syndrome-like) disorder; nbs-like disorder; nbsld; rad50 deficiency","Name":"Nijmegen breakage syndrome-like disorder","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cancer - Oncologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Immunology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Primary Immune Deficiencies","Tag_Category__c":"Account","curated_tag_name":"Primary immunodeficiency"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:240760"}],"External_Identifier_Disease__c":[{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C153178","Source__c":"C2751318; MONDO:0013118","Xref__c":"C153178"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2751318","Source__c":"C2751318","Xref__c":"C2751318"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=442700","Source__c":"C2751318","Xref__c":"MEDGEN:442700"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=766753005","Source__c":"C2751318; MONDO:0013118","Xref__c":"766753005"},{"URL__c":"https://www.orpha.net/en/disease/detail/240760","Source__c":"C2751318; MONDO:0013118; ORPHA:240760","Xref__c":"ORPHA:240760"},{"URL__c":"https://www.omim.org/entry/613078","Source__c":"C2751318; MONDO:0013118; ORPHA:240760","Xref__c":"OMIM:613078"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C567767","Source__c":"MONDO:0013118","Xref__c":"C567767"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0013118","Source__c":"GARD:0017184","Xref__c":"MONDO:0013118"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"RAD50","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:613078","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased amount of chromosomal breaks in cultured blood lymphocytes or other cells induced by treatment with ionizing radiation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010997","HPO_Synonym__c":"Increased cellular radiosensitivity; Radiation-induced chromosome instability","HPO_Name__c":"Chromosomal breakage induced by ionizing radiation","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:613078","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001257","HPO_Synonym__c":"Involuntary muscle stiffness, contraction, or spasm; Muscle spasticity; Muscular spasticity","HPO_Name__c":"Spasticity","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:613078","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000540","HPO_Synonym__c":"Farsightedness; Hyperopia; Long-sightedness","HPO_Name__c":"Hypermetropia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:613078","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001249","HPO_Synonym__c":"Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation","HPO_Name__c":"Intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:613078","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Ataxia refers to impaired coordination of voluntary muscle movement. Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001251","HPO_Synonym__c":"Cerebellar ataxia","HPO_Name__c":"Ataxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:613078","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A deficiency or slowing down of growth pre- and postnatally.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001510","HPO_Synonym__c":"Delayed growth; Growth deficiency; Growth delay; Growth failure; Growth retardation; Poor growth; Retarded growth","HPO_Name__c":"Growth delay","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:613078","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Head circumference below 2 standard deviations below the mean for age and sex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000252","HPO_Synonym__c":"Abnormally small cranium; Abnormally small skull; Decreased circumference of cranium; Decreased size of cranium; Decreased size of skull; Reduced head circumference; small cranium; Small head circumference","HPO_Name__c":"Microcephaly","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:613078","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A height below that which is expected according to age and sex norms. Although there is no universally accepted definition of short stature, many refer to \\\"short stature\\\" as height more than 2 standard deviations below the mean for age and sex (or below the 3rd percentile for age and sex dependent norms).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004322","HPO_Synonym__c":"Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile","HPO_Name__c":"Short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:613078","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000320","HPO_Synonym__c":"Bird-like facial appearance","HPO_Name__c":"Bird-like facies","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Genetics","Immunology","Pediatrics"],"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Account":["Primary Immune Deficiencies"]},"synonyms":["microcephaly and chromosomal instability without immunodeficiency"," microcephaly and spontaneous chromosome instability without immunodeficiency"," nbs-like (nijmegen breakage syndrome-like) disorder"," nbs-like disorder"," nbsld"," rad50 deficiency"]}