{"Name":"Mucopolysaccharidosis, MPS-III-B","DiseaseID__c":"GARD:0007072","id":7072,"encodedName":"mucopolysaccharidosis-mps-iii-b","IsDeleted":false,"Disease_Name_Full__c":"Mucopolysaccharidosis, MPS-III-B","Xref_IDs__c":"59990008; C0086648; C84898; DOID:0111394; MEDGEN:88601; MONDO:0009656; OMIM:252920; ORPHA:79270","USA_Estimate__c":"5,000","No_of_Specialist_Tagsa__c":8,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0009656","Disease_Description__c":"A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetyl-alpha-D-glucosaminidase. It is characterized by behavioral changes, sleep disturbances, and mental developmental delays.","GARD_Name__c":"Mucopolysaccharidosis, MPS-III-B","GARD_Synonym__c":"alpha-n-acetylglucosaminidase deficiency; mps iii b; mps iii-b - mucopolysaccharidosis iii-b; mps3b; mpsiiib; mpsiiib - mucopolysaccharidosis type iiib; mucopolysaccharidosis iii-b; mucopolysaccharidosis type 3b; mucopolysaccharidosis type iiib; mucopolysaccharidosis type iiib (sanfilippo b); mucopolysaccharidosis, type iiib; n-acetyl-alpha-d-glucosaminidase deficiency; n-acetyl-alpha-glucosaminidase deficiency; naglu deficiency; sanfilippo b; sanfilippo syndrome b; sanfilippo syndrome type b; sanfilippo syndrome, type b","Curated_Disease_Description_Source__c":"GARD:0007072","Curated_Disease_Description__c":"Sanfilippo syndrome type B is an genetic disorder that makes the body unable to break down large sugar molecules called glycosaminoglycans (GAGs, formerly called mucopolysaccharides). Specifically, people with this condition are unable to break down a GAG called heparan sulfate. Affected individuals can have severe neurological symptoms, including progressive dementia, aggressive behavior, hyperactivity, seizures, deafness, loss of vision, and an inability to sleep for more than a few hours at a time. Sanfilippo syndrome type B is caused by alterations in the NAGLU gene. This gene provides the instructions for producing an enzyme called N-alpha-acetylglucosaminidase, which is needed to completely break down heparan sulfate. Sanfilippo syndrome type B is inherited in an autosomal recessive manner.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:79270","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009656","ORPHANET_ID__c":"ORPHA:79270","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de sanfilippo tipo b","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de sanfilippo tipo b","Spanish_GARD_Synonym__c":"deficiencia de n-acetil-alfa-glucosaminidasa; mps3b; mpsiiib; mucopolisacaridosis tipo 3b; mucopolisacaridosis tipo iiib","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":"Sanfilippo syndrome type B is an genetic disorder that makes the body unable to break down large sugar molecules called glycosaminoglycans (GAGs, formerly called mucopolysaccharides). Specifically, people with this condition are unable to break down a GAG called heparan sulfate. Affected individuals can have severe neurological symptoms, including progressive dementia, aggressive behavior, hyperactivity, seizures, deafness, loss of vision, and an inability to sleep for more than a few hours at a time. Sanfilippo syndrome type B is caused by alterations in the NAGLU gene. This gene provides the instructions for producing an enzyme called N-alpha-acetylglucosaminidase, which is needed to completely break down heparan sulfate. Sanfilippo syndrome type B is inherited in an autosomal recessive manner.","Curated_Disease_Description_Source__c":"GARD:0007072","GARD_Synonym__c":"alpha-n-acetylglucosaminidase deficiency; mps iii b; mps iii-b - mucopolysaccharidosis iii-b; mps3b; mpsiiib; mpsiiib - mucopolysaccharidosis type iiib; mucopolysaccharidosis iii-b; mucopolysaccharidosis type 3b; mucopolysaccharidosis type iiib; mucopolysaccharidosis type iiib (sanfilippo b); mucopolysaccharidosis, type iiib; n-acetyl-alpha-d-glucosaminidase deficiency; n-acetyl-alpha-glucosaminidase deficiency; naglu deficiency; sanfilippo b; sanfilippo syndrome b; sanfilippo syndrome type b; sanfilippo syndrome, type b","Name":"Mucopolysaccharidosis, MPS-III-B","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":"Childhood Dementia Initiative","Website__c":"https://www.childhooddementia.org/"},{"Account_Name__c":"Canadian MPS Society for Mucopolysaccharide and Related Diseases","Website__c":"https://www.mpssociety.ca/"},{"Account_Name__c":"National MPS Society","Website__c":"https://mpssociety.org/"},{"Account_Name__c":"Society for Mucopolysaccharide Diseases","Website__c":"https://www.mpssociety.org.uk/"},{"Account_Name__c":"Team Sanfilippo Foundation","Website__c":"https://teamsanfilippo.org/"},{"Account_Name__c":"Cure Sanfilippo Foundation","Website__c":"https://curesanfilippofoundation.org/"},{"Account_Name__c":"Sanfilippo Children's Foundation","Website__c":"https://www.sanfilippo.org.au/"}],"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":"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":"Ophthalmology","Tag_Category__c":"Specialist"},{"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":"Craniofacial Anomalies","Tag_Category__c":"Account","curated_tag_name":"Craniofacial anomalies"},{"Tag_Name__c":"Epilepsy","Tag_Category__c":"Account;Specialist","curated_tag_name":"Epilepsy"},{"Tag_Name__c":"Glaucoma","Tag_Category__c":"Account","curated_tag_name":"Glaucoma"},{"Tag_Name__c":"Anterior segment of Eye","Tag_Category__c":"Specialist","curated_tag_name":"Front part of eye disease"},{"Tag_Name__c":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:79270"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:79270"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0086648"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0007072","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK546574","Source__c":"Gene Review","Xref__c":"NBK546574"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0086648","Source__c":"C0086648","Xref__c":"C0086648"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84898","Source__c":"C0086648; MONDO:0009656","Xref__c":"C84898"},{"URL__c":"https://www.omim.org/entry/252920","Source__c":"C0086648; MONDO:0009656; ORPHA:79270","Xref__c":"OMIM:252920"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111394","Source__c":"MONDO:0009656","Xref__c":"DOID:0111394"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=88601","Source__c":"C0086648","Xref__c":"MEDGEN:88601"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=59990008","Source__c":"C0086648; MONDO:0009656","Xref__c":"59990008"},{"URL__c":"https://www.orpha.net/en/disease/detail/79270","Source__c":"C0086648; MONDO:0009656; ORPHA:79270","Xref__c":"ORPHA:79270"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009656","Source__c":"GARD:0007072","Xref__c":"MONDO:0009656"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"NAGLU","GHR_URL__c":"https://medlineplus.gov/genetics/gene/naglu","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:252920","Feature__r":{"HPO_Description__c":"An increased concentration of heparan sulfates in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002159","HPO_Name__c":"Heparan sulfate excretion in urine","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:252920","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":"OMIM:252920","Feature__r":{"HPO_Description__c":"Increased size of the heart, clinically defined as an increased transverse diameter of the cardiac silhouette that is greater than or equal to 50% of the transverse diameter of the chest (increased cardiothoracic ratio) on a posterior-anterior projection of a chest radiograph or a computed tomography.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001640","HPO_Synonym__c":"Enlarged heart; Increased heart size","HPO_Name__c":"Cardiomegaly","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:252920","Feature__r":{"HPO_Description__c":"Hair shafts are rough in texture.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002208","HPO_Synonym__c":"Coarse hair; Coarse hair texture","HPO_Name__c":"Coarse hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:252920","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002344","HPO_Synonym__c":"Neurologic deterioration; Neurologic deterioration, progressive; Progressive mental deterioration; Progressive neurodegeneration; Worsening neurological symptoms","HPO_Name__c":"Progressive neurologic deterioration","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:252920","Feature__r":{"HPO_Description__c":"An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002788","HPO_Synonym__c":"Frequent upper respiratory infections; Frequent upper respiratory tract infections; Recurrent colds; Recurrent upper respiratory and lower respiratory infections; Recurrent upper respiratory infection; Recurrent upper respiratory infections; Recurrent URI; Upper respiratory tract infections; Upper respiratory tract infections, recurrent","HPO_Name__c":"Recurrent upper respiratory tract infections","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:252920","Feature__r":{"HPO_Description__c":"Meeting of the medial eyebrows in the midline.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000664","HPO_Synonym__c":"Monobrow; Synophris; Unibrow","HPO_Name__c":"Synophrys","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:252920","Feature__r":{"HPO_Description__c":"An abnormal increase of density of the bones making up the calvaria.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000250","HPO_Synonym__c":"Dense skull cap","HPO_Name__c":"Dense calvaria","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:252920","Feature__r":{"HPO_Description__c":"Hypertrophic cardiomyopathy with an asymmetrical pattern of hypertrophy, with a predilection for the interventricular septum and myocyte disarray.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001670","HPO_Name__c":"Asymmetric septal hypertrophy","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:252920","Feature__r":{"HPO_Description__c":"Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001007","HPO_Synonym__c":"Excessive hairiness","HPO_Name__c":"Hirsutism","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:252920","Feature__r":{"HPO_Description__c":"Hyperactivity is a condition characterized by constant and unusually high levels of activity, even in situations where it is deemed inappropriate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000752","HPO_Synonym__c":"Hyperactive behavior; Hyperkinetic disorder; More active than typical","HPO_Name__c":"Hyperactivity","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:252920","Feature__r":{"HPO_Description__c":"Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001387","HPO_Synonym__c":"Joint stiffness; Stiff joint; Stiff joints","HPO_Name__c":"Joint stiffness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:252920","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":"OMIM:252920","Feature__r":{"HPO_Description__c":"An abnormal pattern in the quality, quantity, or characteristics of sleep.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002360","HPO_Synonym__c":"Difficulty sleeping; Sleep abnormality; Sleep disturbances; Sleep dysfunction; Sleep-wake disturbance; Trouble sleeping","HPO_Name__c":"Sleep disturbance","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:252920","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":"OMIM:252920","Feature__r":{"HPO_Description__c":"Abnormal increased size of the spleen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001744","HPO_Synonym__c":"Increased spleen size; Large spleen","HPO_Name__c":"Splenomegaly","Feature_System__c":"Cardiovascular System; Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:252920","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Concentration or activity of alpha-N-acetylglucosaminidase (EC 3.2.1.50) below the lower limit of normal. This enzyme can be measured in multiple tissues including leukocytes and cultured fibroblasts. It is also known as alpha-acetylglucosaminidase, N-acetyl-alpha-D-glucosaminidase, N-acetyl-alpha-glucosaminidase, and alpha-D-2-acetamido-2-deoxyglucosidase.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:6000360","HPO_Name__c":"Reduced tissue alpha-N-acetylglucosaminidase activity","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:252920","Feature__r":{"HPO_Description__c":"Increased thickness (diameter) of ribs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000900","HPO_Name__c":"Thickened ribs","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:252920","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000943","HPO_Name__c":"Dysostosis multiplex","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:252920","Feature__r":{"HPO_Description__c":"Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000280","HPO_Synonym__c":"Coarse face; Coarse facial appearance; Coarse facial features; Coarse facies","HPO_Name__c":"Coarse facial features","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:252920","Feature__r":{"HPO_Description__c":"Behavior or an act aimed at harming a person, animal, or physical property (e.g., acts of physical violence; shouting, swearing, and using harsh language; slashing someone's tires).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000718","HPO_Synonym__c":"Aggression; Aggressive behavior; Aggressiveness","HPO_Name__c":"Aggressive behavior","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:252920","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":"OMIM:252920","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003309","HPO_Synonym__c":"Ovoid thoracic and lumbar vertebrae","HPO_Name__c":"Ovoid thoracolumbar vertebrae","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:252920","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","Neurology","Ophthalmology","Orthopedics","Epilepsy","Anterior segment of Eye","Neurodevelopmental disabilities","Pediatrics"],"Account":["Lysosomal","Craniofacial Anomalies","Epilepsy","Glaucoma"]},"synonyms":["alpha-n-acetylglucosaminidase deficiency"," mps iii b"," mps iii-b - mucopolysaccharidosis iii-b"," mps3b"," mpsiiib"," mpsiiib - mucopolysaccharidosis type iiib"," mucopolysaccharidosis iii-b"," mucopolysaccharidosis type 3b"," mucopolysaccharidosis type iiib"," mucopolysaccharidosis type iiib (sanfilippo b)"," mucopolysaccharidosis, type iiib"," n-acetyl-alpha-d-glucosaminidase deficiency"," n-acetyl-alpha-glucosaminidase deficiency"," naglu deficiency"," sanfilippo b"," sanfilippo syndrome b"," sanfilippo syndrome type b"," sanfilippo syndrome, type b"]}