{"Name":"Maternal uniparental disomy of chromosome 21","DiseaseID__c":"GARD:0019337","id":19337,"encodedName":"maternal-uniparental-disomy-of-chromosome-21","IsDeleted":false,"Disease_Name_Full__c":"Maternal uniparental disomy of chromosome 21","Xref_IDs__c":"782691006; C5190523; MEDGEN:1673526; MONDO:0019918; ORPHA:96187","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":1,"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":6,"No_of_Age_at_Onset__c":0,"Description_Source__c":"ORPHA:96187","Disease_Description__c":"Maternal uniparental disomy of chromosome 21 is a uniparental disomy of maternal origin that does not seem to have an adverse impact on the phenotype of an individual. There is a possibility of homozygosity for a recessive disease mutation for which the mother is a carrier and specific phenotype depends on the inherited disorder.","GARD_Name__c":"Maternal uniparental disomy of chromosome 21","GARD_Synonym__c":"maternal uniparental disomy of chromosome type 21; upd(21)mat; upd(21)mat - maternal uniparental disomy of chromosome 21","Curated_Disease_Description_Source__c":"ORPHA:96187","Curated_Disease_Description__c":"Maternal uniparental disomy of chromosome 21 is a uniparental disomy of maternal origin that does not seem to have an adverse impact on the phenotype of an individual. There is a possibility of homozygosity for a recessive disease mutation for which the mother is a carrier and specific phenotype depends on the inherited disorder.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:96187","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019918","ORPHANET_ID__c":"ORPHA:96187","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de disomía uniparental materna del cromosoma 21","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de disomía uniparental materna del cromosoma 21","Spanish_GARD_Synonym__c":"upd(21)mat","Category_Linearization__c":"ORPHA:93890","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":"Maternal uniparental disomy of chromosome 21 is a uniparental disomy of maternal origin that does not seem to have an adverse impact on the phenotype of an individual. There is a possibility of homozygosity for a recessive disease mutation for which the mother is a carrier and specific phenotype depends on the inherited disorder.","Curated_Disease_Description_Source__c":"ORPHA:96187","GARD_Synonym__c":"maternal uniparental disomy of chromosome type 21; upd(21)mat; upd(21)mat - maternal uniparental disomy of chromosome 21","Name":"Maternal uniparental disomy of chromosome 21","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Chromosome Disorder Outreach","Website__c":"https://chromodisorder.org/"},{"Account_Name__c":"Unique","Website__c":"https://rarechromo.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Chromosomal Anomaly","Tag_Category__c":"Account;Cause","curated_tag_name":"Chromosome disorders"},{"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":"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"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1673526","Source__c":"C5190523","Xref__c":"MEDGEN:1673526"},{"URL__c":"https://www.orpha.net/en/disease/detail/96187","Source__c":"C5190523; MONDO:0019918; ORPHA:96187","Xref__c":"ORPHA:96187"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5190523","Source__c":"C5190523","Xref__c":"C5190523"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019918","Source__c":"GARD:0019337","Xref__c":"MONDO:0019918"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=782691006","Source__c":"C5190523","Xref__c":"782691006"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:96187","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Pain in muscle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003326","HPO_Synonym__c":"Muscle ache; Muscle pain","HPO_Name__c":"Myalgia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96187","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003236","HPO_Synonym__c":"Elevated blood creatine phosphokinase; Elevated circulating creatine phosphokinase; Elevated creatine kinase; Elevated serum CPK; Elevated serum creatine kinase; Elevated serum creatine phosphokinase; High serum creatine kinase; Increased CPK; Increased creatine kinase; Increased creatine phosphokinase; Increased serum CK; Increased serum creatine kinase; Increased serum creatine phosphokinase","HPO_Name__c":"Elevated circulating creatine kinase concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:96187","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Activity of the enzyme Phosphoglycerate mutase (PGM) in muscle tissue is below the lower limit of normal. PGM is an enzyme that catalyzes step 8 of glycolysis (EC 5.4.2.11).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:6000197","HPO_Name__c":"Reduced muscle phosphoglycerate mutase activity","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:96187","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"Abnormal results of investigations using electromyography (EMG).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003457","HPO_Synonym__c":"Abnormal electromyography finding; Abnormal EMG; Electromyogram abnormal; EMG abnormalities","HPO_Name__c":"EMG abnormality","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Procedure_EMG"}},{"Provided_By__c":"ORPHA:96187","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040129","HPO_Synonym__c":"Abnormal nerve conduction; Abnormal nerve conduction velocities; Nerve conduction abnormalities","HPO_Name__c":"Abnormal nerve conduction velocity","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_NCV"}},{"Provided_By__c":"ORPHA:96187","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An acute form of rhabdomyolysis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008942","HPO_Synonym__c":"Rhabdomyolysis, acute","HPO_Name__c":"Acute rhabdomyolysis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96187","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Sudden loss of renal function, as manifested by decreased urine production, and a rise in serum creatinine or blood urea nitrogen concentration (azotemia).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001919","HPO_Synonym__c":"Acute kidney failure; Acute renal failure; AKI","HPO_Name__c":"Acute kidney injury","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96187","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Sudden and involuntary contractions of one or more muscles brought on by physical exertion.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003710","HPO_Synonym__c":"Exercise-induced muscle cramping; Exercise-induced muscle cramps; Muscle cramps following exercise; Muscle cramps on exercise; Muscle cramps on exertion; Muscle cramps with exertion","HPO_Name__c":"Exercise-induced muscle cramps","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96187","HPO_Frequency__c":"Occasional (5-29%)","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:96187","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A functional motor deficit where individuals whose responses to the challenges of exercise fail to achieve levels considered normal for their age and sex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003546","HPO_Synonym__c":"Decreased ability to exercise; Inability to exercise; Low exercise endurance; Poor exercise tolerance","HPO_Name__c":"Exercise intolerance","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:96187","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Presence of myoglobin in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002913","HPO_Name__c":"Myoglobinuria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:96187","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Unusual regions of densely packed membranous tubules known as tubular aggregates which present as membranous inclusions, derived from membranes of sarcoplasmic reticulum and mitochondria, containing miscellaneous proteins with a variety of enzymatic activities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100301","HPO_Synonym__c":"Muscle fiber tubular aggregates","HPO_Name__c":"Muscle fiber tubular inclusions","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Lab"}}],"tags":{"Account":["Chromosomal Anomaly"],"Cause":["Chromosomal Anomaly","Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics"]},"synonyms":["maternal uniparental disomy of chromosome type 21"," upd(21)mat"," upd(21)mat - maternal uniparental disomy of chromosome 21"]}