{"Name":"Sandhoff disease","DiseaseID__c":"GARD:0002521","id":2521,"encodedName":"sandhoff-disease","IsDeleted":false,"Disease_Name_Full__c":"Sandhoff disease","Xref_IDs__c":"23849003; 423022295; C0036161; C85052; D012497; DOID:3323; E75.01; MEDGEN:11313; MONDO:0010006; NBK579484; OMIM:268800; ORPHA:796","USA_Estimate__c":"5,000","No_of_Specialist_Tagsa__c":8,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":1,"No_of_HHS_records__c":3,"World_Estimate__c":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":5,"No_of_Disease_Descriptions__c":5,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":4,"Description_Source__c":"MONDO:0010006","Disease_Description__c":"A rare autosomal recessive lysosomal disease characterized by accumulation of GM2 gangliosides in the nervous system due to hexosaminidase A and hexosaminidase B deficiency as a consequence of biallelic pathogenic variants in the <i>HEXB</i> gene.","GARD_Name__c":"Sandhoff disease","GARD_Synonym__c":"beta-hexosaminidase-beta-subunit deficiency; gm>2< gangliosidosis, type 2; gm2 gangliosidosis 0 variant; gm2 gangliosidosis, 0 variant; gm2 gangliosidosis, type 2; gm2-gangliosidosis, type ii; hexosaminidase a and b deficiency; hexosaminidases a and b deficiency; o variant; sandhoff jatzkewitz disease; sandhoff-jatzkewitz-pilz disease; total hexosaminidase deficiency","Curated_Disease_Description_Source__c":"MEDGEN:C0036161","Curated_Disease_Description__c":"Sandhoff disease is a rare inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord (central nervous system). This condition is classified into three major types based on the age at which signs and symptoms first appear: infantile, juvenile, and adult. The infantile form of Sandhoff disease is the most common and severe form and becomes apparent in infancy. Infants with this disorder typically appear normal until the age of 3 to 6 months, when their development slows and muscles used for movement weaken. Affected infants lose motor skills such as turning over, sitting, and crawling. They also develop an exaggerated startle reaction to loud noises. As the disease progresses, children with Sandhoff disease experience seizures, vision and hearing loss, and intellectual disability. An eye abnormality called a cherry-red spot, which can be identified with an eye examination, is characteristic of this disorder. Some affected children also have distinctive facial features, enlarged organs (organomegaly), or bone abnormalities. Children with the infantile form of Sandhoff disease usually live only into early childhood. The juvenile and adult forms of Sandhoff disease are very rare. Signs and symptoms are usually milder than those seen with the infantile form, although they vary widely. The juvenile form can begin between ages 2 and 10.  Characteristic features include speech difficulties, loss of cognitive function (dementia), seizures, and  loss of muscle coordination (ataxia). Adult Sandhoff disease is characterized by problems with movement and psychiatric problems.","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:796","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0010006","ORPHANET_ID__c":"ORPHA:796","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad de sandhoff","Spanish_Description_Source__c":"ORPHA:796","Spanish_Description__c":"Es una enfermedad lisosomal poco frecuente, autosómica recesiva, caracterizada por el acúmulo de gangliósidos GM2 en el sistema nervioso debido a la deficiencia de hexosaminidasa A y hexosaminidasa B como consecuencia de variantes patogénicas bialélicas del gen <i>HEXB</i>.","Spanish_Disease_Name__c":"enfermedad de sandhoff","Spanish_GARD_Synonym__c":null,"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":"Sandhoff disease is a rare inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord (central nervous system). This condition is classified into three major types based on the age at which signs and symptoms first appear: infantile, juvenile, and adult. The infantile form of Sandhoff disease is the most common and severe form and becomes apparent in infancy. Infants with this disorder typically appear normal until the age of 3 to 6 months, when their development slows and muscles used for movement weaken. Affected infants lose motor skills such as turning over, sitting, and crawling. They also develop an exaggerated startle reaction to loud noises. As the disease progresses, children with Sandhoff disease experience seizures, vision and hearing loss, and intellectual disability. An eye abnormality called a cherry-red spot, which can be identified with an eye examination, is characteristic of this disorder. Some affected children also have distinctive facial features, enlarged organs (organomegaly), or bone abnormalities. Children with the infantile form of Sandhoff disease usually live only into early childhood. The juvenile and adult forms of Sandhoff disease are very rare. Signs and symptoms are usually milder than those seen with the infantile form, although they vary widely. The juvenile form can begin between ages 2 and 10.  Characteristic features include speech difficulties, loss of cognitive function (dementia), seizures, and  loss of muscle coordination (ataxia). Adult Sandhoff disease is characterized by problems with movement and psychiatric problems.","Curated_Disease_Description_Source__c":"MEDGEN:C0036161","GARD_Synonym__c":"beta-hexosaminidase-beta-subunit deficiency; gm>2< gangliosidosis, type 2; gm2 gangliosidosis 0 variant; gm2 gangliosidosis, 0 variant; gm2 gangliosidosis, type 2; gm2-gangliosidosis, type ii; hexosaminidase a and b deficiency; hexosaminidases a and b deficiency; o variant; sandhoff jatzkewitz disease; sandhoff-jatzkewitz-pilz disease; total hexosaminidase deficiency","Name":"Sandhoff disease","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":"Alex The Leukodystrophy Charity","Website__c":"https://www.alextlc.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":"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":"Psychiatry","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":"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":"Retinal","Tag_Category__c":"Account;Specialist","curated_tag_name":"Retinal disorders"},{"Tag_Name__c":"Peripheral Neuropathy","Tag_Category__c":"Account","curated_tag_name":"Peripheral neuropathy"},{"Tag_Name__c":"Epilepsy","Tag_Category__c":"Account;Specialist","curated_tag_name":"Epilepsy"},{"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":"Adult","Provided_By__c":"ORPHA:796"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:796"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:796"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:796"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0036161"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK579484","Source__c":"Gene Review","Xref__c":"NBK579484"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C012497","Source__c":"C0036161; MONDO:0010006","Xref__c":"D012497"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=23849003","Source__c":"C0036161; MONDO:0010006","Xref__c":"23849003"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/E75.01","Source__c":"MONDO:0010006","Xref__c":"E75.01"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0036161","Source__c":"C0036161","Xref__c":"C0036161"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=11313","Source__c":"C0036161","Xref__c":"MEDGEN:11313"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A3323","Source__c":"MONDO:0010006","Xref__c":"DOID:3323"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C85052","Source__c":"C0036161; MONDO:0010006","Xref__c":"C85052"},{"URL__c":"https://www.orpha.net/en/disease/detail/796","Source__c":"C0036161; MONDO:0010006; ORPHA:796","Xref__c":"ORPHA:796"},{"URL__c":"https://www.omim.org/entry/268800","Source__c":"C0036161; MONDO:0010006; ORPHA:796","Xref__c":"OMIM:268800"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010006","Source__c":"GARD:0002521","Xref__c":"MONDO:0010006"},{"URL__c":"https://medlineplus.gov/genetics/condition/sandhoff-disease","Source__c":"GARD:0002521","Xref__c":"https://medlineplus.gov/genetics/condition/sandhoff-disease"},{"URL__c":"https://secure.ssa.gov/apps10/poms.nsf/lnx/0423022295","Xref__c":"423022295"},{"URL__c":"https://www.fda.gov/media/146507/download?attachment"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"HEXB","GHR_URL__c":"https://medlineplus.gov/genetics/gene/hexb","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:796","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Ataxia refers to impaired coordination of voluntary muscle movement. Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001251","HPO_Synonym__c":"Cerebellar ataxia","HPO_Name__c":"Ataxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:796","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased prominence or roundness of soft tissues between zygomata and mandible.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000293","HPO_Synonym__c":"Apple cheeks; Big cheeks; Full cheeks; Increased size of cheeks; Large cheeks","HPO_Name__c":"Full cheeks","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:796","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:796","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of glycosphingolipid metabolism.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004343","HPO_Synonym__c":"Abnormality of glycosphingolipid metabolism","HPO_Name__c":"Abnormal glycosphingolipid metabolism","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:796","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Pallor of the perifoveal macula of the retina with appearance of a small circular reddish choroid shape as seen through the fovea centralis due to relative transparency of the macula.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010729","HPO_Synonym__c":"Macular cherry red spot","HPO_Name__c":"Cherry red spot of the macula","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:796","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001635","HPO_Synonym__c":"Cardiac failure; Cardiac failures; Cardiac insufficiency; CHF; Chronic heart failure; Heart failure","HPO_Name__c":"Congestive heart failure","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:796","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Loss of previously present motor (i.e., movement) abilities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002333","HPO_Synonym__c":"Progressive degeneration of movement","HPO_Name__c":"Motor deterioration","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:796","HPO_Frequency__c":"Frequent (30-79%)","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:796","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:796","HPO_Frequency__c":"Frequent (30-79%)","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:796","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Blindness is the condition of lacking visual perception defined as a profound reduction in visual perception. On the 6m visual acuity scale, blindness is defined as less than 3/60. On the 20ft visual acuity scale, blindness is defined as less than 20/400. On the decimal visual acuity scale, blindness is defined as less than 0.05. Blindness is typically characterized by a visual field of no greater than 10 degrees in radius around central fixation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000618","HPO_Synonym__c":"Blindness; Total vision loss","HPO_Name__c":"Blindness","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:796","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007272","HPO_Synonym__c":"Progressive mental and motor deterioration","HPO_Name__c":"Progressive psychomotor deterioration","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:796","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:796","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100022","HPO_Synonym__c":"Abnormality of movement; Movement disorder; Unusual movement","HPO_Name__c":"Abnormality of movement","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:796","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001508","HPO_Synonym__c":"Faltering weight; FTT; Postnatal failure to thrive; Weight faltering","HPO_Name__c":"Failure to thrive","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:796","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Exaggerated anterior convexity of the thoracic vertebral column.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002808","HPO_Synonym__c":"Gibbus deformity; Hunched back; Hyperkyphosis; Round back","HPO_Name__c":"Kyphosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:796","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:796","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:796","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A general term describing features characterized by abnormal development of bones and connective tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002652","HPO_Name__c":"Skeletal dysplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism","Lysosomal"],"Disease Category":["Genetics","Neurology","Inborn Errors of Metabolism","Lysosomal"],"Specialist":["Genetics","Neurology","Ophthalmology","Psychiatry","Retinal","Epilepsy","Neuromuscular medicine","Pediatrics"],"Account":["Lysosomal","Retinal","Peripheral Neuropathy","Epilepsy"]},"synonyms":["beta-hexosaminidase-beta-subunit deficiency"," gm>2< gangliosidosis, type 2"," gm2 gangliosidosis 0 variant"," gm2 gangliosidosis, 0 variant"," gm2 gangliosidosis, type 2"," gm2-gangliosidosis, type ii"," hexosaminidase a and b deficiency"," hexosaminidases a and b deficiency"," o variant"," sandhoff jatzkewitz disease"," sandhoff-jatzkewitz-pilz disease"," total hexosaminidase deficiency"]}