{"Name":"SLC35A1-congenital disorder of glycosylation","DiseaseID__c":"GARD:0012409","id":12409,"encodedName":"slc35a1-congenital-disorder-of-glycosylation","IsDeleted":false,"Disease_Name_Full__c":"SLC35A1-congenital disorder of glycosylation","Xref_IDs__c":"723624008; C1970344; C567040; DOID:0070258; MEDGEN:370234; MONDO:0011342; OMIM:603585; ORPHA:238459","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":6,"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":1,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0011342","Disease_Description__c":"SLC35A1-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage.","GARD_Name__c":"SLC35A1-congenital disorder of glycosylation","GARD_Synonym__c":"carbohydrate deficient glycoprotein syndrome type iif; cdg iif; cdg syndrome type iif; cdg-iif; cdg2f; cmp-sialic acid transporter deficiency; congenital disorder of glycosylation type 2f; congenital disorder of glycosylation type iif; congenital disorder of glycosylation, type iif; slc35a1 (solute carrier family 35 member a1) congenital disorder of glycosylation; slc35a1 congenital disorder of glycosylation; slc35a1-cdg; slc35a1-cdg (cdg-iif); solute carrier family 35 member a1 congenital disorder of glycosylation","Curated_Disease_Description_Source__c":"MONDO:0011342","Curated_Disease_Description__c":"SLC35A1-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage.","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:238459","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011342","ORPHANET_ID__c":"ORPHA:238459","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Slc35a1-cdg","Spanish_Description_Source__c":"ORPHA:238459","Spanish_Description__c":"El trastorno congénito de la glicosilación tipo IIf (CDG-IIf) es una forma extremadamente poco frecuente del síndrome CDG (consulte este término) que, en el único caso registrado, se caracteriza clínicamente por incidentes hemorrágicos repetidos, incluida hemorragia pulmonar grave.","Spanish_Disease_Name__c":"slc35a1-cdg","Spanish_GARD_Synonym__c":"cdg-iif; cdg2f; deficiencia del transportador del cmp-ácido siálico; síndrome cdg tipo iif; síndrome de glicoproteínas deficientes en carbohidratos tipo iif; trastorno congénito de la glicosilación tipo 2f; trastorno congénito de la glicosilación tipo iif","Category_Linearization__c":"ORPHA:68367","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":"SLC35A1-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage.","Curated_Disease_Description_Source__c":"MONDO:0011342","GARD_Synonym__c":"carbohydrate deficient glycoprotein syndrome type iif; cdg iif; cdg syndrome type iif; cdg-iif; cdg2f; cmp-sialic acid transporter deficiency; congenital disorder of glycosylation type 2f; congenital disorder of glycosylation type iif; congenital disorder of glycosylation, type iif; slc35a1 (solute carrier family 35 member a1) congenital disorder of glycosylation; slc35a1 congenital disorder of glycosylation; slc35a1-cdg; slc35a1-cdg (cdg-iif); solute carrier family 35 member a1 congenital disorder of glycosylation","Name":"SLC35A1-congenital disorder of glycosylation","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"CDG CARE","Website__c":"https://cdgcare.org/"},{"Account_Name__c":"CDG Canada","Website__c":"https://canadacdg.com/"}],"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":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Nephrology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Kidney diseases affect the kidneys' ability to remove waste and water from blood, create urine, or make certain hormones.","curated_tag_name":"Kidney diseases"},{"Tag_Name__c":"Inborn Errors of Metabolism","Tag_Category__c":"Cause;Disease Category","category_description":"Inherited metabolic diseases, or inborn errors of metabolism, are a group of genetic diseases that affect the ability of the body's cells to convert food into energy.","curated_tag_name":"Inherited metabolic diseases"},{"Tag_Name__c":"Epilepsy","Tag_Category__c":"Account;Specialist","curated_tag_name":"Epilepsy"},{"Tag_Name__c":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:238459"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:238459"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1970344"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0012409","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1332","Source__c":"Gene Review","Xref__c":"NBK1332"},{"URL__c":"https://www.orpha.net/en/disease/detail/238459","Source__c":"C1970344; MONDO:0011342; ORPHA:238459","Xref__c":"ORPHA:238459"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0070258","Source__c":"MONDO:0011342","Xref__c":"DOID:0070258"},{"URL__c":"https://www.omim.org/entry/603585","Source__c":"C1970344; MONDO:0011342; ORPHA:238459","Xref__c":"OMIM:603585"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C567040","Source__c":"MONDO:0011342","Xref__c":"C567040"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1970344","Source__c":"C1970344","Xref__c":"C1970344"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=723624008","Source__c":"C1970344; MONDO:0011342","Xref__c":"723624008"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=370234","Source__c":"C1970344","Xref__c":"MEDGEN:370234"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011342","Source__c":"GARD:0012409","Xref__c":"MONDO:0011342"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SLC35A1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:238459","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal decrease of absolute number of neutrophils in the blood, per microlitre, compared to a reference range for a given sex and age-group.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001875","HPO_Synonym__c":"Low blood neutrophil count; Low neutrophil count; Neutropenia; Peripheral neutropenia","HPO_Name__c":"Decreased total neutrophil count","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:238459","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Inflammation of any part of the lung parenchyma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002090","HPO_Synonym__c":"Pneumonia","HPO_Name__c":"Pneumonia","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:238459","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A bacterial infection and inflammation of the skin und subcutaneous tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100658","HPO_Synonym__c":"Bacterial infection of skin; Skin infection","HPO_Name__c":"Cellulitis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:238459","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers. The term giant platelet is used when the platelet is larger than the size of the average red cell in the field. (Description adapted from College of American Pathologists, Hematology Manual, 1998).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001902","HPO_Name__c":"Giant platelets","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:238459","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Prolongation of the time taken for a standardized skin cut of fixed depth and length to stop bleeding.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003010","HPO_Synonym__c":"Increased bleeding time; Prolonged bleeding time","HPO_Name__c":"Prolonged bleeding time","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:238459","HPO_Frequency__c":"Very frequent (80-99%)","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:238459","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Pulmonary hemorrhage is a bleeding within the lungs. Older children and adults may spit blood or bloody sputum. Neonates, infants and young children usually do not spit up blood. Anemia, pulmonary infiltrates, increasingling bloody return on BAL and the presence of hemosiderin-laden macrophages in broncho-alveolar lavage (BAL) fluid or lung biopsy can diagnose lung bleeding. Alveolar macrophages contain phagocytosed red blood cells and stain positive for hemosiderin, a product of hemoglobin degradation, after about 48-72 hours following pulmonary hemorraghe. Previous or recurrent bleeding can thus be distinguished from fresh events. A differentiation into local or diffuse is of importance. Also differentiate if pulmonary hemorrhage is due to a primary lung disorder or a manifestation of a systemic disease.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040223","HPO_Synonym__c":"Intrapulmonary hemorrhage","HPO_Name__c":"Pulmonary hemorrhage","Feature_System__c":"Cardiovascular System; Respiratory system; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:238459","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormally low level of blood oxygen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012418","HPO_Synonym__c":"Low blood oxygen level","HPO_Name__c":"Hypoxemia","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:238459","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002098","HPO_Synonym__c":"Breathing difficulties; Labored breathing; Respiratory difficulties","HPO_Name__c":"Respiratory distress","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:238459","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any structural anomaly of megakaryocytes. Mature blood platelets are released from the cytoplasm of megakaryocytes, which are bone-marrow resident cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012143","HPO_Synonym__c":"Abnormality of cells of the megakaryocyte lineage","HPO_Name__c":"Abnormal megakaryocyte morphology","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:238459","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An anomaly of alpha or dense granules or platelet lysosomes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011883","HPO_Name__c":"Abnormal platelet granules","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:238459","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001892","HPO_Synonym__c":"Bleeding diathesis; Bleeding tendency; Hemorrhagic diathesis","HPO_Name__c":"Abnormal bleeding","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:238459","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"This term refers to an abnormally increased susceptibility to bruising (purpura, petechiae, or ecchymoses).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001933","HPO_Synonym__c":"Bleeding below the skin","HPO_Name__c":"Subcutaneous hemorrhage","Feature_System__c":"Skin System; Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Neurology","Nephrology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Neurology","Nephrology","Epilepsy","Neurodevelopmental disabilities","Pediatrics"],"Account":["Nephrology","Epilepsy"]},"synonyms":["carbohydrate deficient glycoprotein syndrome type iif"," cdg iif"," cdg syndrome type iif"," cdg-iif"," cdg2f"," cmp-sialic acid transporter deficiency"," congenital disorder of glycosylation type 2f"," congenital disorder of glycosylation type iif"," congenital disorder of glycosylation, type iif"," slc35a1 (solute carrier family 35 member a1) congenital disorder of glycosylation"," slc35a1 congenital disorder of glycosylation"," slc35a1-cdg"," slc35a1-cdg (cdg-iif)"," solute carrier family 35 member a1 congenital disorder of glycosylation"]}