{"Name":"Sialidosis type 2","DiseaseID__c":"GARD:0007183","id":7183,"encodedName":"sialidosis-type-2","IsDeleted":false,"Disease_Name_Full__c":"Sialidosis type 2","Xref_IDs__c":"52186006; 81896006; C125596; C4282398; C562606; DOID:3343; MEDGEN:924303; MONDO:0009738; OMIM:256550; ORPHA:87876","USA_Estimate__c":"1,000","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":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":4,"Description_Source__c":"MONDO:0009738","Disease_Description__c":"Sialidosis type 2 (ST-2) is a rare lysosomal storage disease, and the severe, early onset form of sialidosis (see this term) characterized by a progressively severe mucopolysaccharidosis-like phenotype (coarse facies, dysostosis multiplex, hepatosplenomegaly), macular cherry-red spots as well as psychomotor and developmental delay. ST-2 displays a broad spectrum of clinical severity with antenatal/congenital, infantile and juvenile presentations.","GARD_Name__c":"Sialidosis type 2","GARD_Synonym__c":"cherry red spot--myoclonus syndrome; deficiency of neuraminidase; deficiency of sialidase; dysmorphic sialidosis; dysmorphic sialidosis with renal involvement; glycoprotein neuraminidase deficiency; infantile dysmorphic sialidosis; lipomucopolysaccharidosis; ml i; mucolipidosis type 1; nephrosialidosis; neu 1 deficiency; neu deficiency; neu1 sialidosis; neug deficiency; neuraminidase 1 deficiency; neuraminidase deficiency; sialidase deficiency; sialidosis caused by mutation in neu1; sialidosis type ii; sialidosis, type 2; sialidosis, type i; sialidosis, type ii","Curated_Disease_Description_Source__c":"GARD:0007183","Curated_Disease_Description__c":"Sialidosis is a severe inherited disorder that affects many organs and tissues, including the nervous system. Sialidosis type II, the more severe type of the disorder, is further divided into congenital, infantile, and juvenile forms. This type of sialidosis often begins during infancy or later during childhood and is characterized by cherry-red macules, mildly coarse facial features, skeletal malformations and mild cognitive impairment. Sialidosis type II is caused by genetic changes in the NEU1 gene. People with sialidosis type II have genetic changes that severely reduce or eliminate NEU1 enzyme activity. The condition is inherited in an autosomal recessive pattern.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:87876","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0009738","ORPHANET_ID__c":"ORPHA:87876","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Sialidosis tipo 2","Spanish_Description_Source__c":"ORPHA:87876","Spanish_Description__c":"La sialidosis tipo 2 (ST-2) es una enfermedad de depósito lisosomal poco frecuente, y una forma grave de sialidosis de inicio temprano, caracterizada por un fenotipo progresivamente grave tipo mucopolisacaridosis (cara tosca, disostosis múltiple, hepatoesplenomegalia) y manchas maculares rojo cereza así como retraso psicomotor y del desarrollo. La ST-2 muestra un amplio espectro de gravedad clínica con presentaciones prenatales/congénitas, infantiles y juveniles.","Spanish_Disease_Name__c":"sialidosis tipo 2","Spanish_GARD_Synonym__c":"sialidosis dismórfica infantil","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":"Sialidosis is a severe inherited disorder that affects many organs and tissues, including the nervous system. Sialidosis type II, the more severe type of the disorder, is further divided into congenital, infantile, and juvenile forms. This type of sialidosis often begins during infancy or later during childhood and is characterized by cherry-red macules, mildly coarse facial features, skeletal malformations and mild cognitive impairment. Sialidosis type II is caused by genetic changes in the NEU1 gene. People with sialidosis type II have genetic changes that severely reduce or eliminate NEU1 enzyme activity. The condition is inherited in an autosomal recessive pattern.","Curated_Disease_Description_Source__c":"GARD:0007183","GARD_Synonym__c":"cherry red spot--myoclonus syndrome; deficiency of neuraminidase; deficiency of sialidase; dysmorphic sialidosis; dysmorphic sialidosis with renal involvement; glycoprotein neuraminidase deficiency; infantile dysmorphic sialidosis; lipomucopolysaccharidosis; ml i; mucolipidosis type 1; nephrosialidosis; neu 1 deficiency; neu deficiency; neu1 sialidosis; neug deficiency; neuraminidase 1 deficiency; neuraminidase deficiency; sialidase deficiency; sialidosis caused by mutation in neu1; sialidosis type ii; sialidosis, type 2; sialidosis, type i; sialidosis, type ii","Name":"Sialidosis type 2","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Cure Mucolipidosis","Website__c":"https://www.curemucolipidosis.org"},{"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":"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":"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":"Nephrology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Kidney diseases affect the kidneys' ability to remove waste and water from blood, create urine, or make certain hormones.","curated_tag_name":"Kidney 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":"Retinal","Tag_Category__c":"Account;Specialist","curated_tag_name":"Retinal disorders"},{"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":"Childhood","Provided_By__c":"ORPHA:87876"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:87876"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:87876"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:87876"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C3888317"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A3343","Source__c":"MONDO:0009738","Xref__c":"DOID:3343"},{"URL__c":"https://www.omim.org/entry/256550","Source__c":"C4282398; MONDO:0009738; ORPHA:87876","Xref__c":"OMIM:256550"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=81896006","Source__c":"MONDO:0009738","Xref__c":"81896006"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C125596","Source__c":"MONDO:0009738","Xref__c":"C125596"},{"URL__c":"https://www.orpha.net/en/disease/detail/87876","Source__c":"C4282398; MONDO:0009738","Xref__c":"ORPHA:87876"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4282398","Source__c":"C4282398","Xref__c":"C4282398"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=924303","Source__c":"C4282398","Xref__c":"MEDGEN:924303"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=52186006","Source__c":"MONDO:0009738","Xref__c":"52186006"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C562606","Source__c":"MONDO:0009738","Xref__c":"C562606"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009738","Source__c":"GARD:0007183","Xref__c":"MONDO:0009738"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=124461006","Source__c":"C4282398","Xref__c":"124461006"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"NEU1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/neu1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:87876","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:87876","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001263","HPO_Synonym__c":"Delayed cognitive development; Delayed development; Delayed developmental milestones; Delayed intellectual development; Delayed milestones; Delayed psychomotor development; Developmental delay; Developmental delay in early childhood; Developmental delay, global; Developmental retardation; GDD; Lack of psychomotor development; Motor and developmental delay; Motormental retardation; Psychomotor delay; Psychomotor development deficiency; Psychomotor development failure; Psychomotor developmental delay; Retarded development; Retarded mental development; Retarded psychomotor development","HPO_Name__c":"Global developmental delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:87876","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001537","HPO_Synonym__c":"Umbilical hernias","HPO_Name__c":"Umbilical hernia","Feature_System__c":"Musculoskeletal System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:87876","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal accumulation of excess fluid in the lower extremity resulting in swelling of the feet and extending upward to the lower leg.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010741","HPO_Synonym__c":"Edema of the lower limbs; Fluid accumulation in lower limbs; Leg edema; Lower leg swelling; Peripheral edema of lower extremity","HPO_Name__c":"Pedal edema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:87876","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. 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It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001371","HPO_Synonym__c":"Flexed joint that cannot be straightened; Flexion contractures; Flexion contractures of joints","HPO_Name__c":"Flexion contracture","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:87876","HPO_Frequency__c":"Occasional (5-29%)","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:87876","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A structural abnormality of the macula, a region that, in a clinical context, is typically used to describe the central part of the retina within the vascular arcades.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001103","HPO_Synonym__c":"Abnormality of the macula; Macula abnormality; Macular abnormality","HPO_Name__c":"Abnormal macular morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:87876","HPO_Frequency__c":"Very frequent (80-99%)","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":"ORPHA:87876","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Generalized muscular hypotonia (abnormally low muscle tone).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001290","HPO_Synonym__c":"Generalized decreased muscle tone; Generalized muscular hypotonia; Hypotonia, generalized","HPO_Name__c":"Generalized hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:87876","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:87876","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Ataxia refers to impaired coordination of voluntary muscle movement. 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Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002094","HPO_Synonym__c":"Abnormal breathing; Breathing difficulty; Difficult to breathe; Difficulty breathing; Shortness of breath; Trouble breathing","HPO_Name__c":"Dyspnea","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:87876","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Difficulty in speaking due to a physical disorder of the mouth, tongue, throat, or vocal cords. 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