{"Name":"Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome","DiseaseID__c":"GARD:0016947","id":16947,"encodedName":"lung-fibrosis-immunodeficiency-46xx-gonadal-dysgenesis-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome","Xref_IDs__c":"721977007; C3150156; MEDGEN:461506; MONDO:0012757; OMIM:611926; ORPHA:137631","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":7,"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":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0012757","Disease_Description__c":"Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome is characterised by immune deficiency, gonadal dysgenesis and fatal lung fibrosis. So far, it has been described in two sisters born to consanguineous parents. Both karyotypes were normal female (46,XX). No genetic anomalies could be identified by comparative genome hybridization analysis of their genomes or by analysis of genes known to be associated with these types of anomalies.","GARD_Name__c":"Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome","GARD_Synonym__c":"immunodeficiency, ovarian dysgenesis, and pulmonary fibrosis","Curated_Disease_Description_Source__c":"ORPHA:137631","Curated_Disease_Description__c":"Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome is characterized by immune deficiency, gonadal dysgenesis and fatal lung fibrosis. Individuals with this syndrome typically have a 46,XX karyotype.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Infant","SourceID__c":"ORPHA:137631","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012757","ORPHANET_ID__c":"ORPHA:137631","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de fibrosis pulmonar-inmunodeficiencia-disgenesia gonadal 46,xx","Spanish_Description_Source__c":"ORPHA:137631","Spanish_Description__c":"Este síndrome se caracteriza por deficiencia inmunitaria, disgenesia gonadal y fibrosis pulmonar fatal. Hasta el momento, ha sido descrito en dos hermanas nacidas de padres consanguíneos. Los cariotipos de ambas fueron normales (46,XX). No se detectó ninguna anomalía genética por hibridación comparativa de sus genomas o por análisis de los genes conocidos asociados a ese tipo a anomalías.","Spanish_Disease_Name__c":"síndrome de fibrosis pulmonar-inmunodeficiencia-disgenesia gonadal 46,xx","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:97955","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":"Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome is characterized by immune deficiency, gonadal dysgenesis and fatal lung fibrosis. Individuals with this syndrome typically have a 46,XX karyotype.","Curated_Disease_Description_Source__c":"ORPHA:137631","GARD_Synonym__c":"immunodeficiency, ovarian dysgenesis, and pulmonary fibrosis","Name":"Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Pulmonology","Tag_Category__c":"Disease Category;Specialist","category_description":"Respiratory diseases affect the nose, mouth, throat, voice box, windpipe, lungs, or blood vessels.","curated_tag_name":"Respiratory diseases"},{"Tag_Name__c":"Immunology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Endocrine","Tag_Category__c":"Disease Category;Specialist","category_description":"Endocrine diseases affect hormone production or how the body responds to a specific hormone(s).","curated_tag_name":"Endocrine diseases"},{"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":"Urogenital Disorders","Tag_Category__c":"Disease Category","category_description":"Urinary and reproductive diseases affect the kidneys, ureters, bladder, urethra, or the reproductive organs.","curated_tag_name":"Urinary and reproductive diseases"},{"Tag_Name__c":"Obstetrics / Gynecology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Urologist","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":"Infancy","Provided_By__c":"ORPHA:137631"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=461506","Source__c":"C3150156","Xref__c":"MEDGEN:461506"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3150156","Source__c":"C3150156","Xref__c":"C3150156"},{"URL__c":"https://www.omim.org/entry/611926","Source__c":"C3150156; MONDO:0012757; ORPHA:137631","Xref__c":"OMIM:611926"},{"URL__c":"https://www.orpha.net/en/disease/detail/137631","Source__c":"C3150156; MONDO:0012757","Xref__c":"ORPHA:137631"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=721977007","Source__c":"MONDO:0012757","Xref__c":"721977007"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012757","Source__c":"GARD:0016947","Xref__c":"MONDO:0012757"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:611926","Feature__r":{"HPO_Description__c":"Abnormality of the thymus, an organ located in the upper anterior portion of the chest cavity just behind the sternum and whose main function is to provide an environment for T lymphocyte maturation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000777","HPO_Synonym__c":"Abnormality of the thymus","HPO_Name__c":"Abnormal thymus morphology","Feature_System__c":"Endocrine System; Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:611926","Feature__r":{"HPO_Description__c":"Gonadal dysgenesis is the name given to any of a multitude of conditions that can cause impaired development of the gonads, i.e., the testes or ovaries, or to the related phenotypic features. The term is to be avoided if possible for new annotations, and more specific terms should be chosen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000133","HPO_Synonym__c":"Mixed gonadal dysgenesis; Pure gonadal dysgenesis","HPO_Name__c":"Gonadal dysgenesis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:611926","Feature__r":{"HPO_Description__c":"Abnormal decrease of cytotoxic CD3+CD8+ T cells, measured as percentage of total CD3+ T cells in the blood, compared to a reference range for a given sex and age-group. These are usually measured within the TCR alpha/beta positive population.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005415","HPO_Synonym__c":"CD8+ T-cell lymphopenia; Decreased proportion of CD8+ T cells; Decreased proportion of CD8-positive T cells; Decreased proportion of CD8-positive, alpha-beta T cells","HPO_Name__c":"Decreased CD8+ T cell proportion","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:611926","Feature__r":{"HPO_Description__c":"An abnormally decreased level of immunoglobulin G (IgG) in blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004315","HPO_Synonym__c":"Decreased circulating IgG level; Decreased gamma-globin expression; Decreased IgG level; Decreased IgG level in blood; Decreased immunoglobulin G; Decreased serum IgG; IgG deficiency; Reduced IgG levels","HPO_Name__c":"Decreased circulating IgG concentration","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:611926","Feature__r":{"HPO_Description__c":"A kind of atrial septum defect arising from an enlarged foramen ovale, inadequate growth of the septum secundum, or excessive absorption of the septum primum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001684","HPO_Synonym__c":"Atrial septal defect, ostium secundum type; Ostium secundum atrial septal defect; Patent ostium secundum","HPO_Name__c":"Secundum atrial septal defect","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:611926","Feature__r":{"HPO_Description__c":"Replacement of normal lung tissues by fibroblasts and collagen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002206","HPO_Synonym__c":"Pulmonary scarring","HPO_Name__c":"Pulmonary fibrosis","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:611926","Feature__r":{"HPO_Description__c":"An abnormally decreased level of immunoglobulin M (IgM) in blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002850","HPO_Synonym__c":"Decreased IgM; Decreased IgM level; IgM deficiency; Reduced IgM levels","HPO_Name__c":"Decreased circulating total IgM","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:611926","Feature__r":{"HPO_Description__c":"Lack of observable tonsillar tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030813","HPO_Synonym__c":"Hypoplastic tonsils; Tonsillar hypoplasia","HPO_Name__c":"Absent tonsils","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:611926","Feature__r":{"HPO_Description__c":"Decreased levels of immunoglobulin A (IgA).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002720","HPO_Synonym__c":"Decreased circulating IgA level; Decreased IgA; Decreased immunoglobulin A; Gamma-A globulin deficiency; IgA deficiency; Low levels of immunoglobulin A; Reduced IgA levels","HPO_Name__c":"Decreased circulating IgA concentration","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:611926","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":"OMIM:611926","Feature__r":{"HPO_Description__c":"An abnormality of the tonsils.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100765","HPO_Name__c":"Abnormality of the tonsils","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:611926","Feature__r":{"HPO_Description__c":"Abnormal decrease of helper CD3+CD4+ T cells, measured as percentage of total CD3+ T cells in the blood, compared to a reference range for a given sex and age-group. These are usually measured within the TCR alpha/beta positive population.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032218","HPO_Synonym__c":"CD4 T cell lymphopenia; Decreased helper T cell proportion; Decreased proportion circulating T-helper cells; Decreased proportion of CD4+ cells; Decreased proportion of CD4+ T cells; Decreased proportion of CD4-positive helper T cells; Decreased proportion of CD4-positive T cells; Decreased proportion of CD4-positive, alpha-beta T cells; Reduced helper T cell proportion; Reduced proportion of CD4-positive cells","HPO_Name__c":"Decreased CD4+ T cell proportion","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Pulmonology","Endocrine","Congenital Abnormality","Urogenital Disorders"],"Specialist":["Genetics","Pulmonology","Immunology","Endocrine","Obstetrics / Gynecology","Urologist","Pediatrics"],"Account":["Primary Immune Deficiencies"]},"synonyms":["immunodeficiency, ovarian dysgenesis, and pulmonary fibrosis"]}