{"Name":"Alpha-N-acetylgalactosaminidase deficiency","DiseaseID__c":"GARD:0016621","id":16621,"encodedName":"alpha-n-acetylgalactosaminidase-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Alpha-N-acetylgalactosaminidase deficiency","Xref_IDs__c":"238048001; C5848084; DOID:0112317; MEDGEN:1845666; MONDO:0017779; ORPHA:3137","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":7,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0017779","Disease_Description__c":"A very rare lysosomal storage disease that is clinically and pathologically heterogeneous and is characterized by deficient NAGA activity.","GARD_Name__c":"Alpha-N-acetylgalactosaminidase deficiency","GARD_Synonym__c":"alpha-n-acetylgalactosaminidase activity disease; disorder of alpha-n-acetylgalactosaminidase activity; naga (alpha-n-acetylgalactosaminidase) deficiency; naga deficiency; schindler disease","Curated_Disease_Description_Source__c":"MONDO:0017779","Curated_Disease_Description__c":"Alpha-N-acetylgalactosaminidase deficiency, also known as Schindler disease, is an inherited disorder that can affect the development of the nervous system. People with alpha-N-acetylgalactosaminidase deficiency often have distinctive facial features that can be described as 'coarse' and tooth abnormalities such as widely-spaced teeth and missing teeth (hypodontia).  The three types of alpha-N-acetylgalactosaminidase deficiency differ in the severity of their signs and symptoms and the age at which they first appear. The signs and symptoms of alpha-N-acetylgalactosaminidase deficiency can vary, even among members of the same family.  Type I is the most severe form of this condition. Babies with alpha-N-acetylgalactosaminidase deficiency type I appear healthy at birth. However, by late infancy, these babies typically have trouble meeting normal developmental milestones. By the age of 2 years, individuals with type I begin to lose skills that they had already acquired (developmental regression). Individuals with type I often experience weak muscle tone (hypotonia), vision and hearing loss, and seizures. During early childhood, children with type I typically lose awareness of their surroundings and eventually become unresponsive. Alpha-N-acetylgalactosaminidase deficiency type II is the least severe form. Type II is typically diagnosed in adulthood. Affected individuals may have mild cognitive impairment and hearing loss caused by abnormalities of the inner ear (sensorineural hearing loss). They may also experience a loss of sensation or muscle weakness in the extremities (peripheral neuropathy). Clusters of enlarged blood vessels that form small, dark red spots on the skin (angiokeratomas) are a characteristic feature of alpha-N-acetylgalactosaminidase deficiency type II. Type III is the intermediate form of alpha-N-acetylgalactosaminidase deficiency. People with type III may show a variety of signs and symptoms, including developmental, speech, and language delays; seizures that begin in infancy; and features of autism spectrum disorder that appear in childhood. Autism spectrum disorder is characterized by impaired communication and socialization skills. People with type III may also have skeletal signs and symptoms, such as pain in the lower back, hips, and knees. Wear on the cartilage (disks) and bones of the neck (cervical spondylosis) and a cyst-like collection of cerebrospinal fluid that forms in the spinal cord (syringohydromyelia) have also been reported.","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:3137","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0017779","ORPHANET_ID__c":"ORPHA:3137","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Deficiencia de n-acetil-alfa-d-galactosaminidasa","Spanish_Description_Source__c":"ORPHA:3137","Spanish_Description__c":"Es una enfermedad de depósito lisosomal muy poco frecuente, clínica y patológicamente heterogénea, que se caracteriza por un déficit en la actividad de la alfa-N-acetilgalactosaminidasa (NAGA).","Spanish_Disease_Name__c":"deficiencia de n-acetil-alfa-d-galactosaminidasa","Spanish_GARD_Synonym__c":"deficiencia de naga; enfermedad de schindler","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":"Alpha-N-acetylgalactosaminidase deficiency, also known as Schindler disease, is an inherited disorder that can affect the development of the nervous system. People with alpha-N-acetylgalactosaminidase deficiency often have distinctive facial features that can be described as 'coarse' and tooth abnormalities such as widely-spaced teeth and missing teeth (hypodontia).  The three types of alpha-N-acetylgalactosaminidase deficiency differ in the severity of their signs and symptoms and the age at which they first appear. The signs and symptoms of alpha-N-acetylgalactosaminidase deficiency can vary, even among members of the same family.  Type I is the most severe form of this condition. Babies with alpha-N-acetylgalactosaminidase deficiency type I appear healthy at birth. However, by late infancy, these babies typically have trouble meeting normal developmental milestones. By the age of 2 years, individuals with type I begin to lose skills that they had already acquired (developmental regression). Individuals with type I often experience weak muscle tone (hypotonia), vision and hearing loss, and seizures. During early childhood, children with type I typically lose awareness of their surroundings and eventually become unresponsive. Alpha-N-acetylgalactosaminidase deficiency type II is the least severe form. Type II is typically diagnosed in adulthood. Affected individuals may have mild cognitive impairment and hearing loss caused by abnormalities of the inner ear (sensorineural hearing loss). They may also experience a loss of sensation or muscle weakness in the extremities (peripheral neuropathy). Clusters of enlarged blood vessels that form small, dark red spots on the skin (angiokeratomas) are a characteristic feature of alpha-N-acetylgalactosaminidase deficiency type II. Type III is the intermediate form of alpha-N-acetylgalactosaminidase deficiency. People with type III may show a variety of signs and symptoms, including developmental, speech, and language delays; seizures that begin in infancy; and features of autism spectrum disorder that appear in childhood. Autism spectrum disorder is characterized by impaired communication and socialization skills. People with type III may also have skeletal signs and symptoms, such as pain in the lower back, hips, and knees. Wear on the cartilage (disks) and bones of the neck (cervical spondylosis) and a cyst-like collection of cerebrospinal fluid that forms in the spinal cord (syringohydromyelia) have also been reported.","Curated_Disease_Description_Source__c":"MONDO:0017779","GARD_Synonym__c":"alpha-n-acetylgalactosaminidase activity disease; disorder of alpha-n-acetylgalactosaminidase activity; naga (alpha-n-acetylgalactosaminidase) deficiency; naga deficiency; schindler disease","Name":"Alpha-N-acetylgalactosaminidase deficiency","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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/"}],"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":"Epilepsy","Tag_Category__c":"Account;Specialist","curated_tag_name":"Epilepsy"},{"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":"Adult","Provided_By__c":"ORPHA:3137"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:3137"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:3137"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=238048001","Source__c":"C5848084; MONDO:0017779","Xref__c":"238048001"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5848084","Source__c":"C5848084","Xref__c":"C5848084"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0112317","Source__c":"MONDO:0017779","Xref__c":"DOID:0112317"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1845666","Source__c":"C5848084","Xref__c":"MEDGEN:1845666"},{"URL__c":"https://www.orpha.net/en/disease/detail/3137","Source__c":"C5848084; MONDO:0017779; ORPHA:3137","Xref__c":"ORPHA:3137"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017779","Source__c":"GARD:0016621","Xref__c":"MONDO:0017779"},{"URL__c":"https://medlineplus.gov/genetics/condition/alpha-n-acetylgalactosaminidase-deficiency","Source__c":"GARD:0016621","Xref__c":"https://medlineplus.gov/genetics/condition/alpha-n-acetylgalactosaminidase-deficiency"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:3137","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Infrequent or difficult evacuation of feces.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002019","HPO_Synonym__c":"Constipation; Costiveness; Dyschezia","HPO_Name__c":"Constipation","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3137","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001252","HPO_Synonym__c":"Low muscle tone; Low or weak muscle tone; Muscle hypotonia; Muscular hypotonia","HPO_Name__c":"Hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3137","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011276","HPO_Synonym__c":"Skin vascular malformation","HPO_Name__c":"Vascular skin abnormality","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3137","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autism begins in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000717","HPO_Synonym__c":"Autism","HPO_Name__c":"Autism","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3137","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Loss of developmental skills, as manifested by loss of developmental milestones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002376","HPO_Synonym__c":"Loss of acquired milestones; Loss of developmental milestones; Loss of milestones; Mental deterioration in childhood; Neurodevelopmental regression; Psychomotor regression; Psychomotor regression beginning in infancy; Psychomotor regression in infants; Psychomotor regression, progressive","HPO_Name__c":"Developmental regression","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3137","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000518","HPO_Synonym__c":"Cataracts; Clouding of the lens of the eye; Cloudy lens; Lens opacities; Lens opacity","HPO_Name__c":"Cataract","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3137","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:3137","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:3137","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000486","HPO_Synonym__c":"Cross-eyed; Squint; Squint eyes","HPO_Name__c":"Strabismus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3137","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Localized fluid retention and tissue swelling caused by a compromised lymphatic system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001004","HPO_Synonym__c":"Lymphatic obstruction; Lymphoedema; Onset of lymphedema around puberty; Swelling caused by excess lymph fluid under skin","HPO_Name__c":"Lymphedema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3137","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Atrophy of the cortex of the cerebrum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002120","HPO_Synonym__c":"Cerebral cortex atrophy; Cortical atrophy; Decrease in size of the outer layer of the brain due to loss of brain cells","HPO_Name__c":"Cerebral cortical atrophy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3137","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002020","HPO_Synonym__c":"Acid reflux; Acid reflux disease; Gastro-esophageal reflux; Gastroesophageal reflux disease; GERD; GORD; Heartburn","HPO_Name__c":"Gastroesophageal reflux","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3137","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Paralysis of all four limbs, and trunk of the body below the level of an associated injury to the spinal cord. The etiology of quadriplegia is similar to that of paraplegia except that the lesion is in the cervical spinal cord rather than in the thoracic or lumbar segments of the spinal cord.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002445","HPO_Synonym__c":"Paralysis of all four limbs; Quadriplegia","HPO_Name__c":"Tetraplegia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3137","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Cerebellar hypoplasia is a descriptive term implying a cerebellum with a reduced volume, but a normal shape and is stable over time.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001321","HPO_Synonym__c":"Congenital cerebellar hypoplasia; Hypoplasia of cerebellum; Hypoplastic cerebellum; Small cerebellum; Underdeveloped cerebellum","HPO_Name__c":"Cerebellar hypoplasia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3137","HPO_Frequency__c":"Occasional (5-29%)","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":"ORPHA:3137","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:3137","HPO_Frequency__c":"Frequent (30-79%)","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:3137","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased width of the skin of vermilion border region of upper lip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012471","HPO_Synonym__c":"Full lips; Increased volume of lip; Increased volume of lip vermillion; Plump lips; Prominent lips; Thick lips","HPO_Name__c":"Thick vermilion border","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3137","HPO_Frequency__c":"Occasional (5-29%)","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":"ORPHA:3137","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009830","HPO_Synonym__c":"Peripheral nerve damage; Peripheral neuritis","HPO_Name__c":"Peripheral neuropathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3137","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal sensation of spinning while the body is actually stationary.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002321","HPO_Synonym__c":"Dizzy spell","HPO_Name__c":"Vertigo","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3137","HPO_Frequency__c":"Frequent (30-79%)","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:3137","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased urinary excretion of oligosaccharides (low molecular weight carbohydrate chains composed of at least three monosaccharide subunits), derived from a partial degradation of glycoproteins.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010471","HPO_Name__c":"Oligosacchariduria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:3137","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001257","HPO_Synonym__c":"Involuntary muscle stiffness, contraction, or spasm; Muscle spasticity; Muscular spasticity","HPO_Name__c":"Spasticity","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3137","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000639","HPO_Synonym__c":"Involuntary, rapid, rhythmic eye movements","HPO_Name__c":"Nystagmus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3137","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006532","HPO_Synonym__c":"Multiple pulmonary infections; Pneumonia, recurrent; Pneumonia, recurrent episodes; Pulmonary infection; Pulmonary infections; pulmonary infections, recurrent; Recurrent pneumonia; Recurrent pulmonary infections","HPO_Name__c":"Recurrent pneumonia","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3137","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A series of rhythmic and involuntary muscle contractions (at a frequency of about 5 to 7 Hz) that occur in response to an abruptly applied and sustained stretch.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002169","HPO_Synonym__c":"Involuntary rhythmic muscular contractions and relaxations","HPO_Name__c":"Clonus","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3137","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"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism","Lysosomal"],"Disease Category":["Genetics","Neurology","Inborn Errors of Metabolism","Congenital Abnormality","Lysosomal"],"Specialist":["Genetics","Neurology","Ophthalmology","Epilepsy","Anterior segment of Eye","Neurodevelopmental disabilities","Pediatrics"],"Account":["Lysosomal","Epilepsy"]},"synonyms":["alpha-n-acetylgalactosaminidase activity disease"," disorder of alpha-n-acetylgalactosaminidase activity"," naga (alpha-n-acetylgalactosaminidase) deficiency"," naga deficiency"," schindler disease"]}