{"Name":"Reticular dysgenesis","DiseaseID__c":"GARD:0008625","id":8625,"encodedName":"reticular-dysgenesis","IsDeleted":false,"Disease_Name_Full__c":"Reticular dysgenesis","Xref_IDs__c":"111584000; C0272167; C27070; C538361; DOID:0060020; MEDGEN:124417; MONDO:0009973; OMIM:267500; ORPHA:33355","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"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:0009973","Disease_Description__c":"Reticular dysgenesis is the most severe form of severe combined immunodeficiency (SCID; see this term) and is characterized by bilateral sensorineural deafness and a lack of innate and adaptive immune functions leading to fatal septicemia within days after birth if not treated.","GARD_Name__c":"Reticular dysgenesis","GARD_Synonym__c":"ak2 deficiency; aleukocytosis; congenital aleukia; congenital aleukocytosis; de vaal disease; devaal disease; generalised haematopoietic hypoplasia; generalized hematopoietic hypoplasia; hematopoietic hypoplasia, generalized; reticular dysgenesia; scid - severe combined immunodeficiency, neutropenia and thrombocytopenia; scid with leukopenia; severe combined immunodeficiency with leukopenia; severe combined immunodeficiency, neutropenia and thrombocytopenia","Curated_Disease_Description_Source__c":"MONDO:0009973","Curated_Disease_Description__c":"Reticular dysgenesis is the most severe form of severe combined immunodeficiency (SCID) and is characterized by bilateral sensorineural deafness and a lack of innate and adaptive immune functions leading to fatal septicemia within days after birth if not treated.","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:33355","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0009973","ORPHANET_ID__c":"ORPHA:33355","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Disgenesia reticular","Spanish_Description_Source__c":"ORPHA:33355","Spanish_Description__c":"La disgenesia reticular es la forma más grave de inmunodeficiencia combinada grave (IDCG); ver término) y se caracteriza por sordera neurosensorial bilateral y la ausencia de respuesta inmune innata y adaptativa, que si no se trata lleva a la muerte al paciente habitualmente por una sepsis fulminante pocos días después del nacimiento.","Spanish_Disease_Name__c":"disgenesia reticular","Spanish_GARD_Synonym__c":"deficiencia de ak2; enfermedad de de vaal; idcg con hipoacusia neurosensorial; idcg con sordera neurosensorial; inmunodeficiencia combinada grave con hipoacusia neurosensorial; inmunodeficiencia combinada grave con sordera neurosensorial; scid con hipoacusia neurosensorial; scid con sordera neurosensorial","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":"Reticular dysgenesis is the most severe form of severe combined immunodeficiency (SCID) and is characterized by bilateral sensorineural deafness and a lack of innate and adaptive immune functions leading to fatal septicemia within days after birth if not treated.","Curated_Disease_Description_Source__c":"MONDO:0009973","GARD_Synonym__c":"ak2 deficiency; aleukocytosis; congenital aleukia; congenital aleukocytosis; de vaal disease; devaal disease; generalised haematopoietic hypoplasia; generalized hematopoietic hypoplasia; hematopoietic hypoplasia, generalized; reticular dysgenesia; scid - severe combined immunodeficiency, neutropenia and thrombocytopenia; scid with leukopenia; severe combined immunodeficiency with leukopenia; severe combined immunodeficiency, neutropenia and thrombocytopenia","Name":"Reticular dysgenesis","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":"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:33355"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:33355"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0272167"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0008625","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=124417","Source__c":"C0272167","Xref__c":"MEDGEN:124417"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C27070","Source__c":"C0272167; MONDO:0009973","Xref__c":"C27070"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060020","Source__c":"MONDO:0009973","Xref__c":"DOID:0060020"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=111584000","Source__c":"C0272167; MONDO:0009973","Xref__c":"111584000"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C538361","Source__c":"MONDO:0009973","Xref__c":"C538361"},{"URL__c":"https://www.orpha.net/en/disease/detail/33355","Source__c":"C0272167; MONDO:0009973; ORPHA:33355","Xref__c":"ORPHA:33355"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0272167","Source__c":"C0272167","Xref__c":"C0272167"},{"URL__c":"https://www.omim.org/entry/267500","Source__c":"C0272167; MONDO:0009973; ORPHA:33355","Xref__c":"OMIM:267500"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009973","Source__c":"GARD:0008625","Xref__c":"MONDO:0009973"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"AK2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:33355","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Impaired ability to absorb one or more nutrients from the intestine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002024","HPO_Synonym__c":"Intestinal malabsorption; Malabsorption","HPO_Name__c":"Malabsorption","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:33355","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001508","HPO_Synonym__c":"Faltering weight; FTT; Postnatal failure to thrive; Weight faltering","HPO_Name__c":"Failure to thrive","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:33355","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Body temperature elevated above the normal range.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001945","HPO_Synonym__c":"Fever; Hyperthermia; Pyrexia","HPO_Name__c":"Fever","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:33355","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal decreased number of leukocytes in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001882","HPO_Synonym__c":"Decreased blood leukocyte number; Leukopenia; Low white blood cell count","HPO_Name__c":"Decreased total leukocyte count","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:33355","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A decreased magnitude of the sensory perception of sound.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000365","HPO_Synonym__c":"Deafness; Hearing defect; Hearing impairment; Hypacusis","HPO_Name__c":"Hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:33355","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduction of total body weight.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001824","HPO_Synonym__c":"Loss of weight","HPO_Name__c":"Weight loss","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:33355","HPO_Frequency__c":"Very frequent (80-99%)","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:33355","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200042","HPO_Synonym__c":"Open skin sore","HPO_Name__c":"Skin ulcer","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:33355","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A neutrophil abnormality.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001874","HPO_Synonym__c":"Abnormality of neutrophil; Abnormality of neutrophils; Abnormality of polymorphonuclear neutrophils","HPO_Name__c":"Abnormality of neutrophils","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:33355","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Chronic otitis media refers to fluid, swelling, or infection of the middle ear that does not heal and may cause permanent damage to the ear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000389","HPO_Synonym__c":"Chronic infections of the middle ear; Otitis media, chronic","HPO_Name__c":"Chronic otitis media","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:33355","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Absence or underdevelopment of the thymus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010515","HPO_Synonym__c":"Absent/small thymus; Absent/underdeveloped thymus","HPO_Name__c":"Aplasia/Hypoplasia of the thymus","Feature_System__c":"Endocrine System; Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:33355","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002014","HPO_Synonym__c":"Diarrhea; Watery stool","HPO_Name__c":"Diarrhea","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:33355","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A red eruption of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000988","HPO_Synonym__c":"Skin rash","HPO_Name__c":"Skin rash","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:33355","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001944","HPO_Synonym__c":"Dehydration; Exsiccosis","HPO_Name__c":"Dehydration","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:33355","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Sepsis is defined as life-threatening organ dysfunction caused by a dysregulated host response to infection.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100806","HPO_Synonym__c":"Infection in blood stream","HPO_Name__c":"Sepsis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:33355","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A functional anomaly of mitochondria.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003287","HPO_Synonym__c":"Mitochondrial dysfunction","HPO_Name__c":"Abnormality of mitochondrial metabolism","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:33355","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:33355","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of primary immune deficiency that is characterized by a more severe defect in both the T- and B-lymphocyte systems.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004430","HPO_Synonym__c":"Immunodeficiency, severe combined","HPO_Name__c":"Severe combined immunodeficiency","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:33355","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An immunodeficiency characterized by defective cell-mediated immunity or humoral immunity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005374","HPO_Name__c":"Cellular immunodeficiency","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:33355","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002205","HPO_Synonym__c":"Frequent respiratory infections; Multiple respiratory infections; Recurrent respiratory infections; respiratory infections, recurrent; Susceptibility to respiratory infections","HPO_Name__c":"Recurrent respiratory infections","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Immunology","Pediatrics"],"Account":["Primary Immune Deficiencies"]},"synonyms":["ak2 deficiency"," aleukocytosis"," congenital aleukia"," congenital aleukocytosis"," de vaal disease"," devaal disease"," generalised haematopoietic hypoplasia"," generalized hematopoietic hypoplasia"," hematopoietic hypoplasia, generalized"," reticular dysgenesia"," scid - severe combined immunodeficiency, neutropenia and thrombocytopenia"," scid with leukopenia"," severe combined immunodeficiency with leukopenia"," severe combined immunodeficiency, neutropenia and thrombocytopenia"]}