{"Name":"Primary Fanconi syndrome","DiseaseID__c":"GARD:0009118","id":9118,"encodedName":"primary-fanconi-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Primary Fanconi syndrome","Xref_IDs__c":"C123229; C1857395; MEDGEN:341765; MONDO:0007600; ORPHA:3337","USA_Estimate__c":null,"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":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0007600","Disease_Description__c":"A condition in which the kidneys do not absorb certain substances into the body. These substances, such as cysteine, fructose, galactose, or glycogen, are lost in the urine. Fanconi syndrome is thought to be caused by genetic and environmental factors, and it may be diagnosed at any age. Symptoms of Fanconi syndrome include increased urine production (which may cause dehydration), weakness, and abnormalities of the bones.","GARD_Name__c":"Primary Fanconi syndrome","GARD_Synonym__c":"congenital fanconi syndrome; de toni-fanconi-debre syndrome; detoni-debré-fanconi syndrome; primary fanconi renal syndrome; primary fanconi renotubular syndrome; primary toni-debre-fanconi syndrome; renal fanconi syndrome; renal tubular fanconi syndrome","Curated_Disease_Description_Source__c":"GARD:0009118","Curated_Disease_Description__c":"Primary Fanconi renotubular syndrome (also known as Fanconi syndrome or FS) affects the way the kidneys work. In FS, the kidneys do not properly absorb electrolytes and other substances into the body. Symptoms can begin at any age. They may include slow growth, fragile bones, frequent urination, and dehydration. Other symptoms include weakness, tremors, and fatigue. FS can occur as an isolated condition or as part of other diseases. Primary Fanconi renotubular syndrome may be caused by genetic variants in one of several different genes, and can be inherited in families. FS can also occur as part of another condition or as a side effect of certain medications and other environmental exposures. Diagnosis is based on the symptoms, clinical exam, and urine testing.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Infant and as a Child","SourceID__c":"ORPHA:3337","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0007600","ORPHANET_ID__c":"ORPHA:3337","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de fanconi primario renotubular","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de fanconi primario renotubular","Spanish_GARD_Synonym__c":"síndrome de detoni-debré-fanconi; síndrome de fanconi primario renal","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":"Primary Fanconi renotubular syndrome (also known as Fanconi syndrome or FS) affects the way the kidneys work. In FS, the kidneys do not properly absorb electrolytes and other substances into the body. Symptoms can begin at any age. They may include slow growth, fragile bones, frequent urination, and dehydration. Other symptoms include weakness, tremors, and fatigue. FS can occur as an isolated condition or as part of other diseases. Primary Fanconi renotubular syndrome may be caused by genetic variants in one of several different genes, and can be inherited in families. FS can also occur as part of another condition or as a side effect of certain medications and other environmental exposures. Diagnosis is based on the symptoms, clinical exam, and urine testing.","Curated_Disease_Description_Source__c":"GARD:0009118","GARD_Synonym__c":"congenital fanconi syndrome; de toni-fanconi-debre syndrome; detoni-debré-fanconi syndrome; primary fanconi renal syndrome; primary fanconi renotubular syndrome; primary toni-debre-fanconi syndrome; renal fanconi syndrome; renal tubular fanconi syndrome","Name":"Primary Fanconi syndrome","estimateUsa":""}],"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:3337"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:3337"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009118","Source__c":"RareSource"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C123229","Source__c":"C1857395; MONDO:0007600","Xref__c":"C123229"},{"URL__c":"https://www.orpha.net/en/disease/detail/3337","Source__c":"C1857395; MONDO:0007600; ORPHA:3337","Xref__c":"ORPHA:3337"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1857395","Source__c":"C1857395","Xref__c":"C1857395"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=341765","Source__c":"C1857395","Xref__c":"MEDGEN:341765"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0001994","Source__c":"C1857395","Xref__c":"HP:0001994"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007600","Source__c":"GARD:0009118","Xref__c":"MONDO:0007600"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=236466005","Source__c":"C1857395","Xref__c":"236466005"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"EHHADH","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"SLC34A1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/slc34a1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"NDUFAF6","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"GATM","GHR_URL__c":"https://medlineplus.gov/genetics/gene/gatm","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive","Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:3337","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:3337","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased concentration of glucose in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003076","HPO_Synonym__c":"Glucose in urine; Glucosuria","HPO_Name__c":"Glycosuria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:3337","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increased concentration of potassium(1+) in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003081","HPO_Synonym__c":"Hyperkaliuresis; Increased urinary K; Increased urinary potassium","HPO_Name__c":"Increased urinary potassium","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:3337","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:3337","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002659","HPO_Synonym__c":"Abnormal susceptibility to fractures; Bone fragility; Frequent broken bones; Increased bone fragility; Increased susceptibility to fractures; Increased tendency to fractures","HPO_Name__c":"Increased susceptibility to fractures","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3337","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of renal tubular acidosis characterized by a failure of the proximal tubular cells to reabsorb bicarbonate, leading to urinary bicarbonate wasting and subsequent acidemia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002049","HPO_Synonym__c":"Proximal tubular acidosis; Renal tubular acidosis, proximal; Renal tubular acidosis, type II","HPO_Name__c":"Proximal renal tubular acidosis","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:3337","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A deviation of urine pH from the normal range of 4.5 to 7.8.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032943","HPO_Name__c":"Abnormal urine pH","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:3337","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormally increased sodium concentration in the urine in the presence of hyponatremia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012606","HPO_Synonym__c":"Kidney sodium wasting; Renal Na wasting; Renal Na+ wasting","HPO_Name__c":"Renal sodium wasting","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:3337","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:3337","HPO_Frequency__c":"Very frequent (80-99%)","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":"ORPHA:3337","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced strength of muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001324","HPO_Synonym__c":"Muscle weakness; Muscular weakness","HPO_Name__c":"Muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3337","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Osteomalacia is a general term for bone weakness owing to a defect in mineralization of the protein framework known as osteoid. This defective mineralization is mainly caused by lack in vitamin D. Osteomalacia in children is known as rickets.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002749","HPO_Synonym__c":"Softening of the bones","HPO_Name__c":"Osteomalacia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3337","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormally decreased phosphate concentration in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002148","HPO_Synonym__c":"Hypophosphataemia; Low blood phosphate level","HPO_Name__c":"Hypophosphatemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:3337","HPO_Frequency__c":"Uncommon (<1-4%)","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":"ORPHA:3337","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Excretion in urine of proteins of a size smaller than albumin (molecular weight 69 kD).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003126","HPO_Synonym__c":"Tubular proteinuria","HPO_Name__c":"Low-molecular-weight proteinuria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:3337","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased concentration of all types of amino acid in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002909","HPO_Synonym__c":"Generalized nonspecific aminoaciduria","HPO_Name__c":"Generalized aminoaciduria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:3337","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004910","HPO_Synonym__c":"HCO3-wasting renal tubular acidosis; Renal bicarbonate wasting","HPO_Name__c":"Bicarbonate-wasting renal tubular acidosis","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:3337","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Concentration of carnitine in the blood circulation below the lower limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003234","HPO_Synonym__c":"Decreased plasma carnitine","HPO_Name__c":"Decreased circulating carnitine concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:3337","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002150","HPO_Synonym__c":"Elevated urine calcium levels; Hypercalcinuria","HPO_Name__c":"Hypercalciuria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:3337","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Functional anomaly of the kidney persisting for at least three months.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012622","HPO_Synonym__c":"Chronic kidney disease; CKD","HPO_Name__c":"Chronic kidney disease","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3337","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004912","HPO_Name__c":"Hypophosphatemic rickets","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:3337","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormally increased concentration of hydrogencarbonate in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003646","HPO_Synonym__c":"Increased urine bicarbonate concentration; Increased urine HCO3 concentration","HPO_Name__c":"Bicarbonaturia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:3337","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"High urine phosphate in the presence of hypophosphatemia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000117","HPO_Synonym__c":"Decreased renal tubular phosphate reabsorption; Decreased tubular maximum for phosphate reabsorption per glomerular filtration rate; Tubular phosphate reabsorption low","HPO_Name__c":"Renal phosphate wasting","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:3337","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormally low level of uric acid in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003537","HPO_Synonym__c":"Low blood uric acid levels","HPO_Name__c":"Hypouricemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:3337","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003774","HPO_Synonym__c":"Chronic renal failure; End stage renal disease; End stage renal failure; End-stage renal disease; End-stage renal failure; Stage 5 chronic kidney disease","HPO_Name__c":"Stage 5 chronic kidney disease","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3337","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002653","HPO_Synonym__c":"Bone pain","HPO_Name__c":"Bone pain","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3337","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormally high level of uric acid in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003149","HPO_Synonym__c":"High urine uric acid level; Increased urinary urate","HPO_Name__c":"Hyperuricosuria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:3337","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A decreased concentration of glucose in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001943","HPO_Synonym__c":"Hypoglycaemia; Low blood sugar","HPO_Name__c":"Hypoglycemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:3337","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Nephrology"],"Specialist":["Genetics","Nephrology","Pediatrics"],"Account":["Nephrology"]},"synonyms":["congenital fanconi syndrome"," de toni-fanconi-debre syndrome"," detoni-debré-fanconi syndrome"," primary fanconi renal syndrome"," primary fanconi renotubular syndrome"," primary toni-debre-fanconi syndrome"," renal fanconi syndrome"," renal tubular fanconi syndrome"]}