{"Name":"Renal tubular acidosis, distal, 4, with hemolytic anemia","DiseaseID__c":"GARD:0012354","id":12354,"encodedName":"renal-tubular-acidosis-distal-4-with-hemolytic-anemia","IsDeleted":false,"Disease_Name_Full__c":"Renal tubular acidosis, distal, 4, with hemolytic anemia","Xref_IDs__c":"C198574; C5436235; MEDGEN:1771439; MONDO:0012700; OMIM:611590; ORPHA:93610","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:0012700","Disease_Description__c":"A rare form of distal renal tubular acidosis characterized by a defect in renal acidification and hereditary hemolytic anemia.","GARD_Name__c":"Renal tubular acidosis, distal, 4, with hemolytic anemia","GARD_Synonym__c":"distal renal tubular acidosis 4 with hemolytic anaemia; distal renal tubular acidosis 4 with hemolytic anemia; distal renal tubular acidosis with anaemia; distal renal tubular acidosis with anemia; drta with anaemia; drta with anemia","Curated_Disease_Description_Source__c":"MONDO:0012700","Curated_Disease_Description__c":"A rare form of distal renal tubular acidosis characterized by a defect in renal acidification and hereditary hemolytic anemia.","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:93610","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012700","ORPHANET_ID__c":"ORPHA:93610","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Acidosis tubular renal distal con anemia","Spanish_Description_Source__c":"ORPHA:93610","Spanish_Description__c":"Es una forma poco frecuente de acidosis tubular renal distal caracterizada por un defecto de acidificación renal y anemia hemolítica hereditaria.","Spanish_Disease_Name__c":"acidosis tubular renal distal con anemia","Spanish_GARD_Synonym__c":"drta con anemia","Category_Linearization__c":"ORPHA:93626","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":"A rare form of distal renal tubular acidosis characterized by a defect in renal acidification and hereditary hemolytic anemia.","Curated_Disease_Description_Source__c":"MONDO:0012700","GARD_Synonym__c":"distal renal tubular acidosis 4 with hemolytic anaemia; distal renal tubular acidosis 4 with hemolytic anemia; distal renal tubular acidosis with anaemia; distal renal tubular acidosis with anemia; drta with anaemia; drta with anemia","Name":"Renal tubular acidosis, distal, 4, with hemolytic anemia","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Kidney Foundation","Website__c":"https://www.kidney.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":"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":"Hematology","Tag_Category__c":"Disease Category;Specialist","category_description":"Blood diseases affect the blood or blood-forming organs, including red blood cells, white blood cells, platelets, plasma, and bone marrow.","curated_tag_name":"Blood diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:93610"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:93610"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0012354","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK547595","Source__c":"Gene Review","Xref__c":"NBK547595"},{"URL__c":"https://www.orpha.net/en/disease/detail/93610","Source__c":"C5436235; MONDO:0012700","Xref__c":"ORPHA:93610"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1771439","Source__c":"C5436235","Xref__c":"MEDGEN:1771439"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5436235","Source__c":"C5436235","Xref__c":"C5436235"},{"URL__c":"https://www.omim.org/entry/611590","Source__c":"C5436235; MONDO:0012700; ORPHA:93610","Xref__c":"OMIM:611590"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012700","Source__c":"GARD:0012354","Xref__c":"MONDO:0012700"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C198574","Source__c":"C5436235","Xref__c":"C198574"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SLC4A1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/slc4a1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:611590","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":"OMIM:611590","Feature__r":{"HPO_Description__c":"Lack of desire to eat (loss of appetite).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002039","HPO_Synonym__c":"Anorexia; Deliberately not eating; Obsessive dieting; Refusing to eat","HPO_Name__c":"Anorexia","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:611590","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:611590","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A reduction from normal of the mean corpuscular volume, or mean cell volume (MCV) of red blood cells (usually defined as an MCV below 80 femtoliters).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025066","HPO_Synonym__c":"Decreased MCV; Microcytosis; Reduced erythrocyte volume","HPO_Name__c":"Decreased mean corpuscular volume","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:611590","Feature__r":{"HPO_Description__c":"A type of renal tubular acidosis characterized by a failure of acid secretion by the alpha intercalated cells of the cortical collecting duct of the distal nephron. The urine cannot be acidified below a pH of 5.3, associated with acidemia and hypokalemia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008341","HPO_Synonym__c":"Renal tubular acidosis, type I","HPO_Name__c":"Distal renal tubular acidosis","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:611590","Feature__r":{"HPO_Description__c":"A form of metabolic acidosis with increased serum chloride levels.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004918","HPO_Synonym__c":"Non-gap acidosis","HPO_Name__c":"Hyperchloremic metabolic acidosis","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:611590","Feature__r":{"HPO_Description__c":"Abnormally pale skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000980","HPO_Name__c":"Pallor","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:611590","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of anemia caused by premature destruction of red blood cells (hemolysis).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001878","HPO_Synonym__c":"Haemolytic anemia; Increased hemolysis","HPO_Name__c":"Hemolytic anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:611590","Feature__r":{"HPO_Description__c":"Nephrocalcinosis is the deposition of calcium salts in renal parenchyma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000121","HPO_Synonym__c":"Too much calcium deposited in kidneys","HPO_Name__c":"Nephrocalcinosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:611590","Feature__r":{"HPO_Description__c":"Simultaneous enlargement of the liver and spleen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001433","HPO_Synonym__c":"Enlarged liver and spleen","HPO_Name__c":"Hepatosplenomegaly","Feature_System__c":"Cardiovascular System; Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:611590","Feature__r":{"HPO_Description__c":"An abnormally decreased potassium concentration in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002900","HPO_Synonym__c":"Low blood potassium levels","HPO_Name__c":"Hypokalemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:611590","Feature__r":{"HPO_Description__c":"Rickets is divided into two major categories including calcipenic and phosphopenic. Hypophosphatemia is described as a common manifestation of both categories. Hypophosphatemic rickets is the most common type of rickets that is characterized by low levels of serum phosphate, resistance to ultraviolet radiation or vitamin D intake. There are several issues involved in hypophosphatemic rickets such as calcium, vitamin D, phosphorus deficiencies. Moreover, other disorder can be associated with its occurrence such as absorption defects due to pancreatic, intestinal, gastric, and renal disorders and hepatobiliary disease. Symptoms are usually seen in childhood and can be varied in severity. Severe forms may be linked to bowing of the legs, poor bone growth, and short stature as well as joint and bone pain. Hypophosphatemic rickets are associated with renal excretion of phosphate, hypophosphatemia, and mineral defects in bones. The familial type of the disease is the most common type of rickets.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002748","HPO_Synonym__c":"Weak and soft bones","HPO_Name__c":"Rickets","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:611590","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001923","HPO_Synonym__c":"Increased immature red blood cells; Increased number of immature red blood cells; Increased reticulocyte count; Increased reticulocytes","HPO_Name__c":"Reticulocytosis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:611590","Feature__r":{"HPO_Description__c":"Inability of the kidneys to produce either concentrated or dilute urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030036","HPO_Name__c":"Isothenuria","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:611590","Feature__r":{"HPO_Description__c":"Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001942","HPO_Name__c":"Metabolic acidosis","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:611590","Feature__r":{"HPO_Description__c":"A state of fatigue, either physical or mental slowness and sluggishness, with difficulties in initiating or performing simple tasks. Distinguished from apathy which implies indifference and a lack of desire or interest in the task. A person with lethargy may have the desire, but not the energy to engage in personal or socially relevant tasks.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001254","HPO_Synonym__c":"Dullness; Inaction; Inactivity; Languor; Lethargy; Slowness; Torpor","HPO_Name__c":"Lethargy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Nephrology","Hematology"],"Specialist":["Genetics","Nephrology","Hematology","Pediatrics"],"Account":["Nephrology"]},"synonyms":["distal renal tubular acidosis 4 with hemolytic anaemia"," distal renal tubular acidosis 4 with hemolytic anemia"," distal renal tubular acidosis with anaemia"," distal renal tubular acidosis with anemia"," drta with anaemia"," drta with anemia"]}