{"Name":"Congenital microvillous atrophy","DiseaseID__c":"GARD:0007039","id":7039,"encodedName":"congenital-microvillous-atrophy","IsDeleted":false,"Disease_Name_Full__c":"Congenital microvillous atrophy","Xref_IDs__c":"235729009; 423022453; C0341306; DOID:0060775; MEDGEN:137954; MONDO:0009635; OMIM:251850; ORPHA:2290","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":2,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":2,"No_of_Disease_Descriptions__c":5,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0009635","Disease_Description__c":"Microvillus inclusion disease (MVID) is a very rare and severe intestinal disease characterized by intractable neonatal secretory diarrhea persisting at bowel rest and specific histological features of the intestinal epithelium.","GARD_Name__c":"Congenital microvillous atrophy","GARD_Synonym__c":"congenital familial protracted diarrhea with enterocyte brush-border abnormalities; congenital familial protracted diarrhoea with enterocyte brush-border abnormalities; congenital microvillus atrophy; davidson disease; diar2; diarrhea 2 with microvillus atrophy; diarrhea 2 with microvillus atrophy, with or without cholestasis; diarrhea with microvillus atrophy 2; diarrhoea 2 with microvillus atrophy; microvillous inclusion disease; microvillus atrophy, congenital; microvillus inclusion disease; mvd; mvid; myo5b secretory diarrhea; myo5b secretory diarrhoea; secretory diarrhea caused by mutation in myo5b; secretory diarrhoea caused by mutation in myo5b","Curated_Disease_Description_Source__c":"GARD:0007039","Curated_Disease_Description__c":"Microvillus inclusion disease is a condition characterized by chronic, watery, life-threatening diarrhea typically beginning in the first hours to days of life. Rarely, the diarrhea starts around age 3 or 4 months. Food intake increases the frequency of diarrhea. Microvillus inclusion disease prevents the absorption of nutrients from food during digestion, resulting in malnutrition and dehydration. Affected infants often have difficulty gaining weight and growing at the expected rate (failure to thrive), developmental delay, liver and kidney problems, and thinning of the bones (osteoporosis). Some affected individuals develop cholestasis, which is a reduced ability to produce and release a digestive fluid called bile. Cholestasis leads to irreversible liver disease (cirrhosis). In individuals with microvillus inclusion disease, lifelong nutritional support is needed and given through intravenous feedings (parenteral nutrition). A variant of microvillus inclusion disease with milder diarrhea often does not require full-time parenteral nutrition. Individuals with the variant type frequently live past childhood.","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:2290","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009635","ORPHANET_ID__c":"ORPHA:2290","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad de inclusión microvellosa","Spanish_Description_Source__c":"ORPHA:2290","Spanish_Description__c":"La enfermedad de inclusión microvellosa (MVID) es una enfermedad intestinal grave y muy poco frecuente caracterizada por diarrea secretora neonatal intratable que persiste con reposo intestinal y con características histológicas específicas del epitelio intestinal.","Spanish_Disease_Name__c":"enfermedad de inclusión microvellosa","Spanish_GARD_Synonym__c":"atrofia de microvellosidades congénita; atrofia microvellosa congénita; enfermedad de inclusión de microvellosidades; mvid","Category_Linearization__c":"ORPHA:97935","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":"Microvillus inclusion disease is a condition characterized by chronic, watery, life-threatening diarrhea typically beginning in the first hours to days of life. Rarely, the diarrhea starts around age 3 or 4 months. Food intake increases the frequency of diarrhea. Microvillus inclusion disease prevents the absorption of nutrients from food during digestion, resulting in malnutrition and dehydration. Affected infants often have difficulty gaining weight and growing at the expected rate (failure to thrive), developmental delay, liver and kidney problems, and thinning of the bones (osteoporosis). Some affected individuals develop cholestasis, which is a reduced ability to produce and release a digestive fluid called bile. Cholestasis leads to irreversible liver disease (cirrhosis). In individuals with microvillus inclusion disease, lifelong nutritional support is needed and given through intravenous feedings (parenteral nutrition). A variant of microvillus inclusion disease with milder diarrhea often does not require full-time parenteral nutrition. Individuals with the variant type frequently live past childhood.","Curated_Disease_Description_Source__c":"GARD:0007039","GARD_Synonym__c":"congenital familial protracted diarrhea with enterocyte brush-border abnormalities; congenital familial protracted diarrhoea with enterocyte brush-border abnormalities; congenital microvillus atrophy; davidson disease; diar2; diarrhea 2 with microvillus atrophy; diarrhea 2 with microvillus atrophy, with or without cholestasis; diarrhea with microvillus atrophy 2; diarrhoea 2 with microvillus atrophy; microvillous inclusion disease; microvillus atrophy, congenital; microvillus inclusion disease; mvd; mvid; myo5b secretory diarrhea; myo5b secretory diarrhoea; secretory diarrhea caused by mutation in myo5b; secretory diarrhoea caused by mutation in myo5b","Name":"Congenital microvillous atrophy","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"TKO Strong","Website__c":"http://www.tkostrongfoundation.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":"Gastroenterology","Tag_Category__c":"Disease Category;Specialist","category_description":"Gastrointestinal diseases, or digestive diseases, affect the esophagus, stomach, small intestine, large intestine, liver, gallbladder, or pancreas.","curated_tag_name":"Gastrointestinal diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:2290"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:2290"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0341306"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0007039","Source__c":"RareSource"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060775","Source__c":"MONDO:0009635","Xref__c":"DOID:0060775"},{"URL__c":"https://www.orpha.net/en/disease/detail/2290","Source__c":"C0341306; MONDO:0009635; ORPHA:2290","Xref__c":"ORPHA:2290"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=137954","Source__c":"C0341306","Xref__c":"MEDGEN:137954"},{"URL__c":"https://www.omim.org/entry/251850","Source__c":"C0341306; MONDO:0009635; ORPHA:2290","Xref__c":"OMIM:251850"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=235729009","Source__c":"C0341306; MONDO:0009635","Xref__c":"235729009"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0341306","Source__c":"C0341306","Xref__c":"C0341306"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009635","Source__c":"GARD:0007039","Xref__c":"MONDO:0009635"},{"URL__c":"https://medlineplus.gov/genetics/condition/microvillus-inclusion-disease","Source__c":"GARD:0007039","Xref__c":"https://medlineplus.gov/genetics/condition/microvillus-inclusion-disease"},{"URL__c":"https://secure.ssa.gov/apps10/poms.nsf/lnx/0423022453","Xref__c":"423022453"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"MYO5B","GHR_URL__c":"https://medlineplus.gov/genetics/gene/myo5b","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2290","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An decrease in the amount of intravascular fluid, particularly in the volume of the circulating blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011106","HPO_Synonym__c":"Depleted blood volume","HPO_Name__c":"Hypovolemia","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2290","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000989","HPO_Synonym__c":"Itching; Itchy skin; Skin itching","HPO_Name__c":"Pruritus","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2290","HPO_Frequency__c":"Frequent (30-79%)","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:2290","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The enteric villi are atrophic or absent.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011473","HPO_Synonym__c":"Atrophy of small intestinal villi; Villous degeneration","HPO_Name__c":"Villous atrophy","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2290","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:2290","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal functionality of the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012211","HPO_Synonym__c":"Abnormal kidney function; Abnormal renal function; Abnormality of renal physiology; Kidney function issue; Renal functional abnormality","HPO_Name__c":"Abnormal renal physiology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2290","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001263","HPO_Synonym__c":"Delayed cognitive development; Delayed development; Delayed developmental milestones; Delayed intellectual development; Delayed milestones; Delayed psychomotor development; Developmental delay; Developmental delay in early childhood; Developmental delay, global; Developmental retardation; GDD; Lack of psychomotor development; Motor and developmental delay; Motormental retardation; Psychomotor delay; Psychomotor development deficiency; Psychomotor development failure; Psychomotor developmental delay; Retarded development; Retarded mental development; Retarded psychomotor development","HPO_Name__c":"Global developmental delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2290","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Distention of the abdomen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003270","HPO_Synonym__c":"Abdominal bloating; Abdominal distension; Abdominal swelling; Belly bloating; Bloating; Distended abdomen","HPO_Name__c":"Abdominal distention","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2290","HPO_Frequency__c":"Frequent (30-79%)","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:2290","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011472","HPO_Synonym__c":"Abnormal shape of small intestinal villus; Abnormality of small intestinal villus morphology","HPO_Name__c":"Abnormal small intestinal villus morphology","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2290","HPO_Frequency__c":"Frequent (30-79%)","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Gastroenterology"],"Specialist":["Genetics","Gastroenterology","Pediatrics"]},"synonyms":["congenital familial protracted diarrhea with enterocyte brush-border abnormalities"," congenital familial protracted diarrhoea with enterocyte brush-border abnormalities"," congenital microvillus atrophy"," davidson disease"," diar2"," diarrhea 2 with microvillus atrophy"," diarrhea 2 with microvillus atrophy, with or without cholestasis"," diarrhea with microvillus atrophy 2"," diarrhoea 2 with microvillus atrophy"," microvillous inclusion disease"," microvillus atrophy, congenital"," microvillus inclusion disease"," mvd"," mvid"," myo5b secretory diarrhea"," myo5b secretory diarrhoea"," secretory diarrhea caused by mutation in myo5b"," secretory diarrhoea caused by mutation in myo5b"]}