{"Name":"Beta-D-mannosidosis","DiseaseID__c":"GARD:0000869","id":869,"encodedName":"beta-d-mannosidosis","IsDeleted":false,"Disease_Name_Full__c":"Beta-D-mannosidosis","Xref_IDs__c":"238047006; C4048196; C84596; D044905; DOID:3633; MEDGEN:888408; MONDO:0009562; OMIM:248510; ORPHA:118","USA_Estimate__c":"5,000","No_of_Specialist_Tagsa__c":7,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":5,"Description_Source__c":"MONDO:0009562","Disease_Description__c":"Beta-mannosidosis is a very rare lysosomal storage disease characterized by developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity.","GARD_Name__c":"Beta-D-mannosidosis","GARD_Synonym__c":"beta-mannosidase deficiency; beta-mannosidosis; lysosomal beta-mannosidase deficiency; mannosidosis, beta; mannosidosis, beta a, lysosomal; mansb","Curated_Disease_Description_Source__c":"MONDO:0009562","Curated_Disease_Description__c":"Beta-mannosidosis is a rare inherited disorder affecting the way certain sugar molecules are processed in the body. Signs and symptoms of beta-mannosidosis vary widely in severity, and the age of onset ranges from infancy to adulthood. Almost all individuals with beta-mannosidosis experience intellectual disability, and some have delayed motor development and seizures. Affected individuals may be  prone to depression or have behavioral problems such as hyperactivity, impulsivity or aggression. People with beta-mannosidosis are often extremely introverted. People with beta-mannosidosis may experience an increased risk of respiratory and ear infections, hearing loss, speech impairment, swallowing difficulties, poor muscle tone (hypotonia), and reduced sensation or other nervous system abnormalities in the extremities (peripheral neuropathy). They may also exhibit distinctive facial features and clusters of enlarged blood vessels forming small, dark red spots on the skin (angiokeratomas).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:118","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009562","ORPHANET_ID__c":"ORPHA:118","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Beta-manosidosis","Spanish_Description_Source__c":"ORPHA:118","Spanish_Description__c":"Es una enfermedad de almacenamiento lisosomal muy poco frecuente caracterizada por un grado variable de retraso en el desarrollo y de pérdida de audición, con una gran heterogeneidad fenotípica.","Spanish_Disease_Name__c":"beta-manosidosis","Spanish_GARD_Synonym__c":"deficiencia de beta-manosidasa","Category_Linearization__c":"ORPHA:68367","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":"Beta-mannosidosis is a rare inherited disorder affecting the way certain sugar molecules are processed in the body. Signs and symptoms of beta-mannosidosis vary widely in severity, and the age of onset ranges from infancy to adulthood. Almost all individuals with beta-mannosidosis experience intellectual disability, and some have delayed motor development and seizures. Affected individuals may be  prone to depression or have behavioral problems such as hyperactivity, impulsivity or aggression. People with beta-mannosidosis are often extremely introverted. People with beta-mannosidosis may experience an increased risk of respiratory and ear infections, hearing loss, speech impairment, swallowing difficulties, poor muscle tone (hypotonia), and reduced sensation or other nervous system abnormalities in the extremities (peripheral neuropathy). They may also exhibit distinctive facial features and clusters of enlarged blood vessels forming small, dark red spots on the skin (angiokeratomas).","Curated_Disease_Description_Source__c":"MONDO:0009562","GARD_Synonym__c":"beta-mannosidase deficiency; beta-mannosidosis; lysosomal beta-mannosidase deficiency; mannosidosis, beta; mannosidosis, beta a, lysosomal; mansb","Name":"Beta-D-mannosidosis","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Metabolic Support UK","Website__c":"https://www.metabolicsupportuk.org"},{"Account_Name__c":"Canadian MPS Society for Mucopolysaccharide and Related Diseases","Website__c":"https://www.mpssociety.ca/"},{"Account_Name__c":"Society for Mucopolysaccharide Diseases","Website__c":"https://www.mpssociety.org.uk/"},{"Account_Name__c":"The International Advocates for Glycoprotein Storage Diseases (ISMRD)","Website__c":"https://www.ismrd.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":"Cardiology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Inborn Errors of Metabolism","Tag_Category__c":"Cause;Disease Category","category_description":"Inherited metabolic diseases, or inborn errors of metabolism, are a group of genetic diseases that affect the ability of the body's cells to convert food into energy.","curated_tag_name":"Inherited metabolic 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":"Lysosomal","Tag_Category__c":"Account;Cause;Disease Category","category_description":"Lysosomal storage diseases are a group of genetic metabolic diseases that affect the ability of the body's cells to break down substances and remove toxins.","curated_tag_name":"Lysosomal storage diseases"},{"Tag_Name__c":"Orthopedics","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Peripheral Neuropathy","Tag_Category__c":"Account","curated_tag_name":"Peripheral neuropathy"},{"Tag_Name__c":"Cardiomyopathy","Tag_Category__c":"Account","curated_tag_name":"Cardiomyopathy"},{"Tag_Name__c":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"},{"Tag_Name__c":"Neuromuscular medicine","Tag_Category__c":"Specialist","curated_tag_name":"Neuromuscular medicine"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:118"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:118"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:118"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:118"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:118"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C4048196"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0000869","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=888408","Source__c":"C4048196","Xref__c":"MEDGEN:888408"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=238047006","Source__c":"C4048196; MONDO:0009562","Xref__c":"238047006"},{"URL__c":"https://www.omim.org/entry/248510","Source__c":"C4048196; MONDO:0009562; ORPHA:118","Xref__c":"OMIM:248510"},{"URL__c":"https://www.orpha.net/en/disease/detail/118","Source__c":"C4048196; MONDO:0009562; ORPHA:118","Xref__c":"ORPHA:118"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84596","Source__c":"C4048196; MONDO:0009562","Xref__c":"C84596"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A3633","Source__c":"MONDO:0009562","Xref__c":"DOID:3633"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4048196","Source__c":"C4048196","Xref__c":"C4048196"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C044905","Source__c":"C4048196; MONDO:0009562","Xref__c":"D044905"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009562","Source__c":"GARD:0000869","Xref__c":"MONDO:0009562"},{"URL__c":"https://medlineplus.gov/genetics/condition/beta-mannosidosis","Source__c":"GARD:0000869","Xref__c":"https://medlineplus.gov/genetics/condition/beta-mannosidosis"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"MANBA","GHR_URL__c":"https://medlineplus.gov/genetics/gene/manba","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:118","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the abdominal musculature.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005247","HPO_Synonym__c":"Abdominal muscular hypoplasia","HPO_Name__c":"Hypoplasia of the abdominal wall musculature","Feature_System__c":"Musculoskeletal System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:118","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:118","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal morphology (form) of the face or its components.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001999","HPO_Synonym__c":"Abnormal facial shape; Abnormal morphology of the face; Distinctive facies; Dysmorphic facial features; Dysmorphic facies; Facial dysmorphism; Unusual facial appearance; Unusual facies","HPO_Name__c":"Abnormal facial shape","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:118","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A decreased magnitude of the sensory perception of sound.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000365","HPO_Synonym__c":"Deafness; Hearing defect; Hearing impairment; Hypacusis","HPO_Name__c":"Hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:118","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002205","HPO_Synonym__c":"Frequent respiratory infections; Multiple respiratory infections; Recurrent respiratory infections; respiratory infections, recurrent; Susceptibility to respiratory infections","HPO_Name__c":"Recurrent respiratory infections","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:118","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001249","HPO_Synonym__c":"Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation","HPO_Name__c":"Intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism","Lysosomal"],"Disease Category":["Genetics","Neurology","Inborn Errors of Metabolism","Congenital Abnormality","Lysosomal"],"Specialist":["Genetics","Cardiology","Neurology","Orthopedics","Neurodevelopmental disabilities","Neuromuscular medicine","Pediatrics"],"Account":["Lysosomal","Peripheral Neuropathy","Cardiomyopathy"]},"synonyms":["beta-mannosidase deficiency"," beta-mannosidosis"," lysosomal beta-mannosidase deficiency"," mannosidosis, beta"," mannosidosis, beta a, lysosomal"," mansb"]}