{"Name":"GM1 gangliosidosis type 3","DiseaseID__c":"GARD:0002431","id":2431,"encodedName":"gm1-gangliosidosis-type-3","IsDeleted":false,"Disease_Name_Full__c":"GM1 gangliosidosis type 3","Xref_IDs__c":"238027003; C0268273; DOID:0080489; MEDGEN:78655; MONDO:0009262; OMIM:230650; ORPHA:79257","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":6,"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":2,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0009262","Disease_Description__c":"GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis (see this term) characterized by onset generally during childhood or adolescence and by cerebellar dysfunction.","GARD_Name__c":"GM1 gangliosidosis type 3","GARD_Synonym__c":"adult gm1 gangliosidosis; adult-onset gm1 gangliosidosis; gangliosidosis, generalized gm1, adult type; gangliosidosis, generalized gm1, chronic type; gangliosidosis, generalized gm1, type 3; gangliosidosis, generalized gm1, type iii; gm1 gangliosidosis type iii; gm1-gangliosidosis, type iii; type 3 (adult) gm1 gangliosidosis","Curated_Disease_Description_Source__c":"GARD:0002431","Curated_Disease_Description__c":"GM1 gangliosidosis is an inherited lysosomal storage disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. The condition may be classified into three major types based on the general age that signs and symptoms first appear: classic infantile (type 1); juvenile (type 2); and adult onset or chronic (type 3). Although the types differ in severity, their features may overlap significantly. GM1 gangliosidosis is caused by genetic changes in the GLB1 gene and is inherited in an autosomal recessive manner.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:79257","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009262","ORPHANET_ID__c":"ORPHA:79257","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Gangliosidosis gm1 tipo 3","Spanish_Description_Source__c":"ORPHA:79257","Spanish_Description__c":"La gangliosidos GM1 tipo 3 es una forma adulta, crónica y leve de gangliosidosis GM1 (consulte este término), caracterizada por su aparición generalmente durante la infancia o adolescencia y por una disfunción cerebelosa.","Spanish_Disease_Name__c":"gangliosidosis gm1 tipo 3","Spanish_GARD_Synonym__c":"gangliosidosis gm1 del adulto","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":"GM1 gangliosidosis is an inherited lysosomal storage disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. The condition may be classified into three major types based on the general age that signs and symptoms first appear: classic infantile (type 1); juvenile (type 2); and adult onset or chronic (type 3). Although the types differ in severity, their features may overlap significantly. GM1 gangliosidosis is caused by genetic changes in the GLB1 gene and is inherited in an autosomal recessive manner.","Curated_Disease_Description_Source__c":"GARD:0002431","GARD_Synonym__c":"adult gm1 gangliosidosis; adult-onset gm1 gangliosidosis; gangliosidosis, generalized gm1, adult type; gangliosidosis, generalized gm1, chronic type; gangliosidosis, generalized gm1, type 3; gangliosidosis, generalized gm1, type iii; gm1 gangliosidosis type iii; gm1-gangliosidosis, type iii; type 3 (adult) gm1 gangliosidosis","Name":"GM1 gangliosidosis type 3","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Tay-Sachs and Allied Diseases Association","Website__c":"https://www.ntsad.org/"},{"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"},{"Account_Name__c":"Cure GM1 Foundation","Website__c":"https://curegm1.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":"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":"Orthopedics","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Epilepsy","Tag_Category__c":"Account;Specialist","curated_tag_name":"Epilepsy"},{"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":"All ages","Provided_By__c":"ORPHA:79257"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0002431","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK164500","Source__c":"Gene Review","Xref__c":"NBK164500"},{"URL__c":"https://www.omim.org/entry/230650","Source__c":"C0268273; MONDO:0009262; ORPHA:79257","Xref__c":"OMIM:230650"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080489","Source__c":"MONDO:0009262","Xref__c":"DOID:0080489"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0268273","Source__c":"C0268273","Xref__c":"C0268273"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=78655","Source__c":"C0268273","Xref__c":"MEDGEN:78655"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=238027003","Source__c":"C0268273; MONDO:0009262","Xref__c":"238027003"},{"URL__c":"https://www.orpha.net/en/disease/detail/79257","Source__c":"C0268273; MONDO:0009262; ORPHA:79257","Xref__c":"ORPHA:79257"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009262","Source__c":"GARD:0002431","Xref__c":"MONDO:0009262"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"GLB1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/glb1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:230650","Feature__r":{"HPO_Description__c":"Underdeveloped acetabulae.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003274","HPO_Synonym__c":"Acetabular hypoplasia; Hypoplastic acetabula","HPO_Name__c":"Hypoplastic acetabulae","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:230650","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":"OMIM:230650","Feature__r":{"HPO_Description__c":"Widening of the ilium ala, that is of the wing of the ilium, combined with external rotation, leading to a flared appearance of the iliac wing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002869","HPO_Synonym__c":"Flared iliac wings","HPO_Name__c":"Flared iliac wing","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:230650","Feature__r":{"HPO_Description__c":"Reduced transparency of the stroma of cornea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007759","HPO_Synonym__c":"Cloudy cornea; Corneal stromal opacity","HPO_Name__c":"Opacification of the corneal stroma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:230650","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increase in size of the ventricular system of the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002119","HPO_Synonym__c":"Cerebral ventricular dilatation; Dilated cerebral ventricle; Dilated cerebral ventricles; Dilated ventricles; Enlarged cerebral ventricles; Enlarged ventricles; Enlarged ventricular system; Large cerebral ventricles and cisternae; Ventricular dilatation","HPO_Name__c":"Ventriculomegaly","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:230650","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001260","HPO_Synonym__c":"Difficulty articulating speech; Dysarthric speech","HPO_Name__c":"Dysarthria","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:230650","Feature__r":{"HPO_Description__c":"The presence of skeletal muscular atrophy (which is also known as amyotrophy).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003202","HPO_Synonym__c":"Amyotrophy; Amyotrophy involving the extremities; Muscle atrophy; Muscle atrophy, neurogenic; Muscle degeneration; Muscle hypotrophy; Muscle wasting; Muscular atrophy; Neurogenic muscle atrophy; Neurogenic muscle atrophy, especially in the lower limbs; Neurogenic muscular atrophy","HPO_Name__c":"Skeletal muscle atrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:230650","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of an abnormal lateral curvature of the spine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002650","HPO_Name__c":"Scoliosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:230650","HPO_Frequency__c":"Frequent (30-79%)","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":"OMIM:230650","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormally decreased rate of beta-galactosidase activity. Beta-galactosidase activity can be measured in leukocyte, fibroblast, or plasma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008166","HPO_Synonym__c":"Beta-galactosidase deficiency in fibroblasts and white blood cells; Beta-galactosidase-1 deficiency; Decreased beta galactosidase activity","HPO_Name__c":"Decreased beta-galactosidase activity","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:230650","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A flattened vertebral body shape with reduced distance between the vertebral endplates.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000926","HPO_Synonym__c":"Flat vertebral bodies; Flattened vertebrae; Flattened vertebral bodies","HPO_Name__c":"Platyspondyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:230650","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A degree of language development that is significantly below the norm for a child of a specified age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000750","HPO_Synonym__c":"Deficiency of speech development; Delayed language development; Delayed speech; Delayed speech acquisition; Delayed speech and language development; Delayed speech development; Impaired speech and language development; Impaired speech development; Language delay; Language delayed; Language development deficit; Late-onset speech development; Poor language development; Speech and language delay; Speech and language difficulties; Speech delay","HPO_Name__c":"Delayed speech and language development","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:230650","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":"OMIM:230650","Feature__r":{"HPO_Description__c":"Diffuse unlocalised atrophy affecting the cerebrum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002506","HPO_Synonym__c":"Cerebral atrophy, diffuse","HPO_Name__c":"Diffuse cerebral atrophy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:230650","Feature__r":{"HPO_Description__c":"An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001332","HPO_Synonym__c":"Dystonic movements","HPO_Name__c":"Dystonia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:230650","Feature__r":{"HPO_Description__c":"Abnormal coordination of muscles involved in speech.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001350","HPO_Synonym__c":"Slurred speech","HPO_Name__c":"Slurred speech","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:230650","Feature__r":{"HPO_Description__c":"Anterior tongue-like protrusions of the vertebral bodies of the lumbar spine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008430","HPO_Synonym__c":"Anterior tongue-like protrusion of lumbar vertebral bodies","HPO_Name__c":"Anterior beaking of lumbar vertebrae","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:230650","Feature__r":{"HPO_Description__c":"Mild intellectual disability (ID) is defined as a type of ID characterized by mildly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 50-69.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001256","HPO_Synonym__c":"Intellectual disability, mild; Mental retardation, borderline-mild; Mild and nonprogressive mental retardation; Mild mental retardation","HPO_Name__c":"Mild intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:230650","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001761","HPO_Synonym__c":"Cavus foot; High-arched foot","HPO_Name__c":"Pes cavus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:230650","Feature__r":{"HPO_Description__c":"Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001347","HPO_Synonym__c":"Increased deep tendon reflexes; Increased reflexes","HPO_Name__c":"Hyperreflexia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:230650","Feature__r":{"HPO_Description__c":"The presence of foam cells, a type of macrophage that localizes to fatty deposits on blood vessel walls, where they ingest low-density lipoproteins and become laden with lipids, giving them a foamy appearance.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003651","HPO_Synonym__c":"Foamy histiocytes; Foamy macrophages; Lipid-laden histiocytes; Presence of foam cells","HPO_Name__c":"Foam cells","Feature_System__c":"Cardiovascular 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","Orthopedics","Epilepsy","Neurodevelopmental disabilities","Pediatrics"],"Account":["Lysosomal","Epilepsy"]},"synonyms":["adult gm1 gangliosidosis"," adult-onset gm1 gangliosidosis"," gangliosidosis, generalized gm1, adult type"," gangliosidosis, generalized gm1, chronic type"," gangliosidosis, generalized gm1, type 3"," gangliosidosis, generalized gm1, type iii"," gm1 gangliosidosis type iii"," gm1-gangliosidosis, type iii"," type 3 (adult) gm1 gangliosidosis"]}