{"Name":"Mulibrey nanism syndrome","DiseaseID__c":"GARD:0000095","id":95,"encodedName":"mulibrey-nanism-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Mulibrey nanism syndrome","Xref_IDs__c":"81604003; C0524582; C84906; D050336; DOID:0050436; MEDGEN:99347; MONDO:0009664; OMIM:253250; ORPHA:2576","USA_Estimate__c":"50,000","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":"80,000 to 800,000","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":4,"Description_Source__c":"MONDO:0009664","Disease_Description__c":"A rare developmental defect during embryogenesis characterized by growth delay and multiorgan manifestations.","GARD_Name__c":"Mulibrey nanism syndrome","GARD_Synonym__c":"mul; mulibrey dwarfism; mulibrey growth disorder; mulibrey nanism; muscle-liver-brain-eye nanism; muscle, liver, brain, eye nanism syndrome; perheentupa syndrome; pericardial constriction and growth failure; pericardial constriction-growth failure syndrome","Curated_Disease_Description_Source__c":"GARD:0000095","Curated_Disease_Description__c":"Mulibrey Nanism is a rare genetic disorder characterized by profound growth delays and distinctive abnormalities of the muscles, liver, brain, and eyes. The acronym MULIBREY stands for (MU)scle, (LI)ver, (BR)ain, and (EY)e; nanism is another word for dwarfism. Signs and symptoms of the disorder may include constrictive pericarditis; low birth weight; short stature; severe progressive growth delays; hypotonia; hepatomegaly; and yellow discoloration of the eyes in infancy. It is caused by genetic changes in the TRIM37 gene and is inherited in an autosomal recessive manner.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:2576","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009664","ORPHANET_ID__c":"ORPHA:2576","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de mulibrey","Spanish_Description_Source__c":"ORPHA:2576","Spanish_Description__c":"Es un defecto poco frecuente del desarrollo embrionario caracterizado por retraso del crecimiento y manifestaciones multiorgánicas.","Spanish_Disease_Name__c":"síndrome de mulibrey","Spanish_GARD_Synonym__c":"enanismo músculo-hígado-cerebro-ojo; mul; trastorno del crecimiento mulibrey","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":"Mulibrey Nanism is a rare genetic disorder characterized by profound growth delays and distinctive abnormalities of the muscles, liver, brain, and eyes. The acronym MULIBREY stands for (MU)scle, (LI)ver, (BR)ain, and (EY)e; nanism is another word for dwarfism. Signs and symptoms of the disorder may include constrictive pericarditis; low birth weight; short stature; severe progressive growth delays; hypotonia; hepatomegaly; and yellow discoloration of the eyes in infancy. It is caused by genetic changes in the TRIM37 gene and is inherited in an autosomal recessive manner.","Curated_Disease_Description_Source__c":"GARD:0000095","GARD_Synonym__c":"mul; mulibrey dwarfism; mulibrey growth disorder; mulibrey nanism; muscle-liver-brain-eye nanism; muscle, liver, brain, eye nanism syndrome; perheentupa syndrome; pericardial constriction and growth failure; pericardial constriction-growth failure syndrome","Name":"Mulibrey nanism syndrome","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Little People of America","Website__c":"https://www.lpaonline.org/"},{"Account_Name__c":"American Heart Association","Website__c":"https://www.heart.org"},{"Account_Name__c":"Coalition for Heritable Disorders of Connective Tissue","Website__c":"https://www.connectivetissuecoalition.org/"},{"Account_Name__c":"Human Growth Foundation","Website__c":"https://www.hgfound.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":"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"},{"Tag_Name__c":"Orthopedics","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:2576"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:2576"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:2576"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:2576"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0524582"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0000095","Source__c":"RareSource"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84906","Source__c":"C0524582; MONDO:0009664","Xref__c":"C84906"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=81604003","Source__c":"C0524582; MONDO:0009664","Xref__c":"81604003"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0524582","Source__c":"C0524582","Xref__c":"C0524582"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=99347","Source__c":"C0524582","Xref__c":"MEDGEN:99347"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050436","Source__c":"MONDO:0009664","Xref__c":"DOID:0050436"},{"URL__c":"https://www.omim.org/entry/253250","Source__c":"C0524582; MONDO:0009664; ORPHA:2576","Xref__c":"OMIM:253250"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C050336","Source__c":"C0524582; MONDO:0009664","Xref__c":"D050336"},{"URL__c":"https://www.orpha.net/en/disease/detail/2576","Source__c":"C0524582; MONDO:0009664; ORPHA:2576","Xref__c":"ORPHA:2576"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009664","Source__c":"GARD:0000095","Xref__c":"MONDO:0009664"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TRIM37","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2576","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A persistent (minutes to hours) abnormal increase in the pitch (frequency) of the voice for the context or social situation or significantly different from baseline of the individual.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001620","HPO_Synonym__c":"High pitched voice; High-pitched voice","HPO_Name__c":"Abnormally high-pitched voice","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2576","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A deformity of the sella turcica whereby the sella extends further anterior than normal such that the anterior clinoid process appears to overhang it, giving the appearance of the letter J on imaging of the skull.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002680","HPO_Synonym__c":"Hour glass shaped hypophysial fossa; Hour glass shaped pituitary fossa; Hour glass shaped sella turcica; J-shaped sella; Omega shaped sella turcica","HPO_Name__c":"J-shaped sella turcica","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2576","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally increased size of the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002240","HPO_Synonym__c":"Enlarged liver","HPO_Name__c":"Hepatomegaly","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2576","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic disease.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004326","HPO_Synonym__c":"Wasting syndrome","HPO_Name__c":"Cachexia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2576","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Diminution of tendon reflexes, which is an invariable sign of peripheral nerve disease.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001315","HPO_Synonym__c":"Absent or decreased deep tendon reflexes; Decreased deep tendon reflexes; Decreased tendon reflexes; Decreased to absent deep tendon reflexes; Decreased/absent deep tendon reflexes; Depressed tendon reflexes; Diminished deep tendon reflexes; Diminished or absent deep tendon reflexes; Diminished or absent tendon reflexes; Hypoactive to absent deep tendon reflexes; Impaired tendon reflexes; Reduced/absent deep tendon reflexes; Weak or absent deep tendon reflexes","HPO_Name__c":"Reduced tendon reflexes","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2576","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000256","HPO_Synonym__c":"Increased size of cranium; Increased size of skull; Large head; Large head circumference; Macrocephalus; Macrocrania; Megacephaly","HPO_Name__c":"Macrocephaly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2576","HPO_Frequency__c":"Very frequent (80-99%)","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":"ORPHA:2576","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased breadth of the nasal bridge (and with it, the nasal root).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000431","HPO_Synonym__c":"Broad nasal bridge; Broad nasal root; Broadened nasal bridge; Increased breadth of bridge of nose; Increased breadth of nasal bridge; Increased width of bridge of nose; Increased width of nasal bridge; Nasal bridge broad; Nasal bridge, wide; Wide bridge of nose; Wide nasal bridge; Widened nasal bridge","HPO_Name__c":"Wide nasal bridge","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2576","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001511","HPO_Synonym__c":"Fetal growth restriction; FGR; In utero growth retardation; Intrauterine growth failure; Intrauterine growth restriction; Intrauterine growth retardation, IUGR; Intrauterine retardation; IUGR; Prenatal growth deficiency; Prenatal growth failure; Prenatal growth retardation; Prenatal onset growth retardation; Prenatal-onset growth retardation; Small for gestational age infant","HPO_Name__c":"Intrauterine growth retardation","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"]},"synonyms":["mul"," mulibrey dwarfism"," mulibrey growth disorder"," mulibrey nanism"," muscle-liver-brain-eye nanism"," muscle, liver, brain, eye nanism syndrome"," perheentupa syndrome"," pericardial constriction and growth failure"," pericardial constriction-growth failure syndrome"]}