{"Name":"Combined deficiency of sialidase AND beta galactosidase","DiseaseID__c":"GARD:0003953","id":3953,"encodedName":"combined-deficiency-of-sialidase-and-beta-galactosidase","IsDeleted":false,"Disease_Name_Full__c":"Combined deficiency of sialidase AND beta galactosidase","Xref_IDs__c":"35691006; 423022730; C0268233; C129928; C536411; DOID:0080540; MEDGEN:82779; MONDO:0009737; OMIM:256540; ORPHA:351","USA_Estimate__c":"5,000","No_of_Specialist_Tagsa__c":6,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":2,"World_Estimate__c":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":2,"No_of_Disease_Descriptions__c":5,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0009737","Disease_Description__c":"Galactosialidosis is a lysosomal storage disease characterized by coarse facial features, macular ''cherry red spot'', and dysostosis multiplex. Clinical presentation can be heterogenous ranging from a severe, early-onset, rapidly progressive infantile form to late onset, slowly progressive juvenile/adult form.","GARD_Name__c":"Combined deficiency of sialidase AND beta galactosidase","GARD_Synonym__c":"cathepsin a deficiency; combined deficiency of neuroaminidase and beta galactosidase; galactosialidosis; goldberg syndrome; gsl; gsl - galactosialidosis; neuraminidase deficiency with beta-galactosidase deficiency; neuraminidase/beta-galactosidase expression; ppca deficiency; protective protein deficiency; protective protein/cathepsin a deficiency","Curated_Disease_Description_Source__c":"GARD:0003953","Curated_Disease_Description__c":"Galactosialidosis is a condition that affects many areas of the body.  The three forms of galactosialidosis are distinguished by the age at which symptoms develop and the pattern of features. The early infantile form of galactosialidosis is associated with extensive swelling caused by fluid accumulation before birth (hydrops fetalis), a soft out-pouching in the lower abdomen (an inguinal hernia), and an enlarged liver and spleen (hepatosplenomegaly).  Additional features of this form include abnormal bone development (dysostosis multiplex) and distinctive facial features that are often described as 'coarse.'  Some infants have an enlarged heart (cardiomegaly), an eye abnormality called a cherry-red spot, and kidney disease that can progress to kidney failure.  Infants with this form usually are diagnosed between birth and 3 months of age; they typically live to around 6 months of age. The late infantile form of galactosialidosis shares some features with the early infantile form, although the signs and symptoms are somewhat less severe and begin later in infancy. This form is characterized by short stature, dysostosis multiplex, heart valve problems, hepatosplenomegaly, and 'coarse' facial features. Other symptoms seen in some individuals with this type include intellectual disabilities, hearing loss, and a cherry-red spot.  Children with this condition typically develop symptoms around 2 years old.  The life expectancy of individuals with this type varies depending on the severity of symptoms. The juvenile/adult form of galactosialidosis has signs and symptoms that are somewhat different from those of the other two types.  This form is distinguished by difficulty coordinating movements (ataxia), muscle twitches (myoclonus), seizures, and  intellectual disabilities that worsen over time.  People with this form typically also have dark red spots on the skin (angiokeratomas), abnormalities in the bones of the spine, 'coarse' facial features, a cherry-red spot, vision loss, and hearing loss.  The age at which symptoms begin to develop varies widely among affected individuals, but the average age is 16.  This form is typically associated with a nearly normal life expectancy.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:351","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009737","ORPHANET_ID__c":"ORPHA:351","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Galactosialidosis","Spanish_Description_Source__c":"ORPHA:351","Spanish_Description__c":"La galactosialidosis es una enfermedad de almacenamiento lisosomal caracterizada por rasgos faciales toscos, mancha macular ''rojo cereza\" y disostosis múltiple. La presentación clínica puede ser heterogénea, variando desde una forma grave, de inicio temprano en la lactancia y progresión rápida hasta una forma juvenil / adulta de inicio tardío lentamente progresiva.","Spanish_Disease_Name__c":"galactosialidosis","Spanish_GARD_Synonym__c":"deficiencia de neuraminidasa beta-galactosidasa; síndrome de goldberg","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":"Galactosialidosis is a condition that affects many areas of the body.  The three forms of galactosialidosis are distinguished by the age at which symptoms develop and the pattern of features. The early infantile form of galactosialidosis is associated with extensive swelling caused by fluid accumulation before birth (hydrops fetalis), a soft out-pouching in the lower abdomen (an inguinal hernia), and an enlarged liver and spleen (hepatosplenomegaly).  Additional features of this form include abnormal bone development (dysostosis multiplex) and distinctive facial features that are often described as 'coarse.'  Some infants have an enlarged heart (cardiomegaly), an eye abnormality called a cherry-red spot, and kidney disease that can progress to kidney failure.  Infants with this form usually are diagnosed between birth and 3 months of age; they typically live to around 6 months of age. The late infantile form of galactosialidosis shares some features with the early infantile form, although the signs and symptoms are somewhat less severe and begin later in infancy. This form is characterized by short stature, dysostosis multiplex, heart valve problems, hepatosplenomegaly, and 'coarse' facial features. Other symptoms seen in some individuals with this type include intellectual disabilities, hearing loss, and a cherry-red spot.  Children with this condition typically develop symptoms around 2 years old.  The life expectancy of individuals with this type varies depending on the severity of symptoms. The juvenile/adult form of galactosialidosis has signs and symptoms that are somewhat different from those of the other two types.  This form is distinguished by difficulty coordinating movements (ataxia), muscle twitches (myoclonus), seizures, and  intellectual disabilities that worsen over time.  People with this form typically also have dark red spots on the skin (angiokeratomas), abnormalities in the bones of the spine, 'coarse' facial features, a cherry-red spot, vision loss, and hearing loss.  The age at which symptoms begin to develop varies widely among affected individuals, but the average age is 16.  This form is typically associated with a nearly normal life expectancy.","Curated_Disease_Description_Source__c":"GARD:0003953","GARD_Synonym__c":"cathepsin a deficiency; combined deficiency of neuroaminidase and beta galactosidase; galactosialidosis; goldberg syndrome; gsl; gsl - galactosialidosis; neuraminidase deficiency with beta-galactosidase deficiency; neuraminidase/beta-galactosidase expression; ppca deficiency; protective protein deficiency; protective protein/cathepsin a deficiency","Name":"Combined deficiency of sialidase AND beta galactosidase","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":"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":"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:351"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0268233"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0003953","Source__c":"RareSource"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=35691006","Source__c":"C0268233; MONDO:0009737","Xref__c":"35691006"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C129928","Source__c":"C0268233; MONDO:0009737","Xref__c":"C129928"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0268233","Source__c":"C0268233","Xref__c":"C0268233"},{"URL__c":"https://www.orpha.net/en/disease/detail/351","Source__c":"C0268233; MONDO:0009737; ORPHA:351","Xref__c":"ORPHA:351"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080540","Source__c":"MONDO:0009737","Xref__c":"DOID:0080540"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=82779","Source__c":"C0268233","Xref__c":"MEDGEN:82779"},{"URL__c":"https://www.omim.org/entry/256540","Source__c":"C0268233; MONDO:0009737; ORPHA:351","Xref__c":"OMIM:256540"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536411","Source__c":"MONDO:0009737","Xref__c":"C536411"},{"URL__c":"https://medlineplus.gov/genetics/condition/galactosialidosis","Source__c":"GARD:0003953","Xref__c":"https://medlineplus.gov/genetics/condition/galactosialidosis"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009737","Source__c":"GARD:0003953","Xref__c":"MONDO:0009737"},{"URL__c":"https://secure.ssa.gov/apps10/poms.nsf/lnx/0423022730","Xref__c":"423022730"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CTSA","GHR_URL__c":"https://medlineplus.gov/genetics/gene/ctsa","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:351","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of one or more of the vertebrae.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003468","HPO_Synonym__c":"Abnormal vertebrae; Abnormality of the vertebrae; Vertebral anomalies","HPO_Name__c":"Abnormal vertebral morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:351","HPO_Frequency__c":"Very frequent (80-99%)","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"}},{"Provided_By__c":"ORPHA:351","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:351","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduction of corneal clarity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007957","HPO_Synonym__c":"Corneal clouding; Corneal opacities; Reduction of corneal clarity; Scarring or clouding of the cornea of the eye","HPO_Name__c":"Corneal opacity","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:351","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any abnormality of the vertebral column.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000925","HPO_Synonym__c":"Abnormal spine; Abnormal vertebral column; Abnormality of the spine; Abnormality of the vertebral column","HPO_Name__c":"Abnormality of the vertebral column","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:351","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"}},{"Provided_By__c":"ORPHA:351","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:351","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:351","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"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism","Lysosomal"],"Disease Category":["Genetics","Neurology","Inborn Errors of Metabolism","Congenital Abnormality","Lysosomal"],"Specialist":["Genetics","Neurology","Ophthalmology","Orthopedics","Retinal","Pediatrics"],"Account":["Lysosomal","Retinal"]},"synonyms":["cathepsin a deficiency"," combined deficiency of neuroaminidase and beta galactosidase"," galactosialidosis"," goldberg syndrome"," gsl"," gsl - galactosialidosis"," neuraminidase deficiency with beta-galactosidase deficiency"," neuraminidase/beta-galactosidase expression"," ppca deficiency"," protective protein deficiency"," protective protein/cathepsin a deficiency"]}