{"Name":"Cernunnos-XLF deficiency","DiseaseID__c":"GARD:0017045","id":17045,"encodedName":"cernunnos-xlf-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Cernunnos-XLF deficiency","Xref_IDs__c":"720853005; C1969799; C566970; DOID:0061090; MEDGEN:369590; MONDO:0012650; OMIM:611291; ORPHA:169079","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":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0012650","Disease_Description__c":"Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia.","GARD_Name__c":"Cernunnos-XLF deficiency","GARD_Synonym__c":"cernunnos deficiency; cernunnos xlfd; combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionising radiation syndrome; combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome; imd124; immunodeficiency 124, severe combined; nhej1 deficiency; nhej1 syndrome; scid, autosomal recessive, t cell-negative, b cell-negative, nk cell-positive, and sensitivity to ionizing radiation due to nhej1 deficiency; scid, autosomal recessive, t cell-negative, b cell-negative, nk cell-positive, with microcephaly, growth retardation, and sensitivity to ionizing radiation; severe combined immunodeficiency with sensitivity to ionizing radiation due to nhej1 deficiency","Curated_Disease_Description_Source__c":"MONDO:0012650","Curated_Disease_Description__c":"Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:169079","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012650","ORPHANET_ID__c":"ORPHA:169079","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Deficiencia de cernunnos-xlf","Spanish_Description_Source__c":"ORPHA:169079","Spanish_Description__c":"El déficit de cernunnos-XLF es una forma rara de inmunodeficiencia combinada caracterizada por microcefalia, retraso en el crecimiento, y linfopenia de linfocitos T y B.","Spanish_Disease_Name__c":"deficiencia de cernunnos-xlf","Spanish_GARD_Synonym__c":"cernunnos xlfd; deficiencia de cernunnos; deficiencia de nhej1; inmunodeficiencia combinada-microcefalia-retraso del crecimiento-sensibilidad a la radiación ionizante","Category_Linearization__c":"ORPHA:98004","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":"Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia.","Curated_Disease_Description_Source__c":"MONDO:0012650","GARD_Synonym__c":"cernunnos deficiency; cernunnos xlfd; combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionising radiation syndrome; combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome; imd124; immunodeficiency 124, severe combined; nhej1 deficiency; nhej1 syndrome; scid, autosomal recessive, t cell-negative, b cell-negative, nk cell-positive, and sensitivity to ionizing radiation due to nhej1 deficiency; scid, autosomal recessive, t cell-negative, b cell-negative, nk cell-positive, with microcephaly, growth retardation, and sensitivity to ionizing radiation; severe combined immunodeficiency with sensitivity to ionizing radiation due to nhej1 deficiency","Name":"Cernunnos-XLF deficiency","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Immune Deficiency Foundation","Website__c":"https://www.primaryimmune.org/"}],"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":"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:169079"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:169079"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=720853005","Source__c":"MONDO:0012650","Xref__c":"720853005"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1969799","Source__c":"C1969799","Xref__c":"C1969799"},{"URL__c":"https://www.omim.org/entry/611291","Source__c":"C1969799; MONDO:0012650; ORPHA:169079","Xref__c":"OMIM:611291"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C566970","Source__c":"MONDO:0012650","Xref__c":"C566970"},{"URL__c":"https://www.orpha.net/en/disease/detail/169079","Source__c":"C1969799; MONDO:0012650","Xref__c":"ORPHA:169079"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=369590","Source__c":"C1969799","Xref__c":"MEDGEN:369590"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012650","Source__c":"GARD:0017045","Xref__c":"MONDO:0012650"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0061090","Source__c":"MONDO:0012650","Xref__c":"DOID:0061090"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"NHEJ1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:169079","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The occurrence of an immune reaction against the organism's own cells or tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002960","HPO_Synonym__c":"Autoimmune condition; Autoimmune disease; Autoimmune disorder; Autoimmunity","HPO_Name__c":"Autoimmunity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:169079","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased volume and globular shape of the anteroinferior aspect of the nose.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000414","HPO_Synonym__c":"Bulbous nose","HPO_Name__c":"Bulbous nose","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:169079","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased susceptibility to viral infections, as manifested by recurrent episodes of viral infection.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004429","HPO_Name__c":"Recurrent viral infections","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:169079","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The absolute number of T cells per volume is below the lower limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005403","HPO_Synonym__c":"Decrease in T cell count; Decrease in T cell number; Decreased numbers of circulating T cells; Low T cell count; Reduced number of T cells; T cell lymphopenia; T lymphocytopenia","HPO_Name__c":"Decreased total T cell count","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:169079","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The absolute number of B cells in the blood, per microlitre is below the lower limit of normal of the reference range for the appropriate sex and age-group.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010976","HPO_Synonym__c":"B cell deficiency; B cell lymphopenia; B lymphocytopenia; Decreased B cell count; Low B cell count; Reduction in B cell number","HPO_Name__c":"Decreased total B cell count","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:169079","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Inclination of the anterior surface of the forehead from the vertical more than two standard deviations above the mean (objective); or apparently excessive posterior sloping of the forehead in a lateral view.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000340","HPO_Synonym__c":"Inclined forehead; Posteriorly sloping forehead; Receding forehead; Sloping forehead","HPO_Name__c":"Sloping forehead","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:169079","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A reduction in erythrocytes volume or hemoglobin concentration.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001903","HPO_Synonym__c":"Anaemia; Low number of red blood cells or hemoglobin","HPO_Name__c":"Anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:169079","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A reduction in the number of circulating thrombocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001873","HPO_Synonym__c":"Low platelet count","HPO_Name__c":"Thrombocytopenia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:169079","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002718","HPO_Synonym__c":"Bacterial infections, recurrent; Frequent bacterial infections; Frequent pyogenic infections; Increased susceptibility to bacterial infections; Recurrent bacterial infections; Recurrent major bacterial infections; Recurrent pyogenic infections; Susceptibility to pyogenic infection","HPO_Name__c":"Recurrent bacterial infections","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:169079","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormally decreased level of immunoglobulin in blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004313","HPO_Synonym__c":"Decreased antibody level in blood; Decreased circulating antibody level; Decreased immunoglobulin level; Decreased serum immunoglobulin; Hypogammaglobulinemia; Immunoglobulin deficiency; Reduced immunoglobulin levels","HPO_Name__c":"Decreased circulating immunoglobulin concentration","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:169079","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":"ORPHA:169079","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000444","HPO_Synonym__c":"Beaked nose; Beaklike protrusion; Convex dorsum of nose; Convex nasal dorsum; Hooked nose; Polly beak nasal deformity","HPO_Name__c":"Convex nasal ridge","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:169079","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduced number of lymphocytes in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001888","HPO_Synonym__c":"Absolute lymphocyte count decrease; Decreased blood lymphocyte number; Low lymphocyte number; Lymphocytopenia; Lymphopenia","HPO_Name__c":"Decreased total lymphocyte count","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:169079","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"}},{"Provided_By__c":"ORPHA:169079","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002721","HPO_Synonym__c":"Decreased immune function; Immune deficiency","HPO_Name__c":"Immunodeficiency","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:169079","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"}}],"tags":{"Specialist":["Cancer - Oncologist","Genetics","Immunology","Pediatrics"],"Cause":["Genetics"],"Disease Category":["Genetics"],"Account":["Primary Immune Deficiencies"]},"synonyms":["cernunnos deficiency"," cernunnos xlfd"," combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionising radiation syndrome"," combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome"," imd124"," immunodeficiency 124, severe combined"," nhej1 deficiency"," nhej1 syndrome"," scid, autosomal recessive, t cell-negative, b cell-negative, nk cell-positive, and sensitivity to ionizing radiation due to nhej1 deficiency"," scid, autosomal recessive, t cell-negative, b cell-negative, nk cell-positive, with microcephaly, growth retardation, and sensitivity to ionizing radiation"," severe combined immunodeficiency with sensitivity to ionizing radiation due to nhej1 deficiency"]}