{"Name":"Alpha-N-acetylgalactosaminidase deficiency type 2","DiseaseID__c":"GARD:0009161","id":9161,"encodedName":"alpha-n-acetylgalactosaminidase-deficiency-type-2","IsDeleted":false,"Disease_Name_Full__c":"Alpha-N-acetylgalactosaminidase deficiency type 2","Xref_IDs__c":"880065001; C1836522; DOID:0112319; MEDGEN:324539; MONDO:0012222; OMIM:609242; ORPHA:79280","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":3,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0012222","Disease_Description__c":"A very rare mild adult type of NAGA deficiency with the features of angiokeratoma corporis diffusum and mild sensory neuropathy.","GARD_Name__c":"Alpha-N-acetylgalactosaminidase deficiency type 2","GARD_Synonym__c":"adult-onset alpha-n-acetylgalactosaminidase deficiency; alpha-n-acetylgalactosaminidase deficiency, type ii; kanzaki disease; naga (alpha-n-acetylgalactosaminidase) deficiency type 2; naga deficiency type 2; naga deficiency, type ii; schindler disease type 2; schindler disease, type ii","Curated_Disease_Description_Source__c":"MONDO:0012222","Curated_Disease_Description__c":"A very rare mild adult type of NAGA deficiency with the features of angiokeratoma corporis diffusum and mild sensory neuropathy.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:79280","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012222","ORPHANET_ID__c":"ORPHA:79280","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Deficiencia de alfa-n-acetilgalactosaminidasa tipo 2","Spanish_Description_Source__c":"ORPHA:79280","Spanish_Description__c":"Es un tipo de deficiencia de alfa-N-acetilgalactosaminidasa (NAGA) del adulto, leve y muy poco frecuente, con rasgos de angioqueratoma corporal difuso y de neuropatía sensorial leve.","Spanish_Disease_Name__c":"deficiencia de alfa-n-acetilgalactosaminidasa tipo 2","Spanish_GARD_Synonym__c":"deficiencia de alfa-n-acetilgalactosaminidasa de inicio en el adulto; deficiencia de naga tipo 2; enfermedad de kanzaki; enfermedad de schindler tipo 2","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":"A very rare mild adult type of NAGA deficiency with the features of angiokeratoma corporis diffusum and mild sensory neuropathy.","Curated_Disease_Description_Source__c":"MONDO:0012222","GARD_Synonym__c":"adult-onset alpha-n-acetylgalactosaminidase deficiency; alpha-n-acetylgalactosaminidase deficiency, type ii; kanzaki disease; naga (alpha-n-acetylgalactosaminidase) deficiency type 2; naga deficiency type 2; naga deficiency, type ii; schindler disease type 2; schindler disease, type ii","Name":"Alpha-N-acetylgalactosaminidase deficiency type 2","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":"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":"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"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:79280"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1836522"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009161","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=324539","Source__c":"C1836522","Xref__c":"MEDGEN:324539"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1836522","Source__c":"C1836522","Xref__c":"C1836522"},{"URL__c":"https://www.orpha.net/en/disease/detail/79280","Source__c":"C1836522; MONDO:0012222; ORPHA:79280","Xref__c":"ORPHA:79280"},{"URL__c":"https://www.omim.org/entry/609242","Source__c":"C1836522; MONDO:0012222; ORPHA:79280","Xref__c":"OMIM:609242"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=880065001","Source__c":"C1836522; MONDO:0012222","Xref__c":"880065001"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0112319","Source__c":"MONDO:0012222","Xref__c":"DOID:0112319"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012222","Source__c":"GARD:0009161","Xref__c":"MONDO:0012222"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"NAGA","GHR_URL__c":"https://medlineplus.gov/genetics/gene/naga","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:79280","HPO_Frequency__c":"Frequent (30-79%)","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:79280","HPO_Frequency__c":"Frequent (30-79%)","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:79280","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200034","HPO_Synonym__c":"Papules","HPO_Name__c":"Papule","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79280","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Posterior positioning of the nasal root in relation to the overall facial profile for age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005280","HPO_Synonym__c":"Depressed bridge of nose; Depressed nasal bridge; Depressed nasal root; Flat bridge of nose; Flat nasal bridge; Flat nasal root; Flat, nasal bridge; Flattened nasal bridge; Low nasal bridge; Low nasal root; Retruded bridge of nose; Retruded nasal bridge","HPO_Name__c":"Depressed nasal bridge","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79280","HPO_Frequency__c":"Very frequent (80-99%)","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:79280","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the oral mucosa.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007428","HPO_Synonym__c":"Angioectasia of the oral mucosa; Angioectasia of the oral mucous membrane; Spider veins of the oral mucosa; Telangiectasia of the oral mucous membrane","HPO_Name__c":"Telangiectasia of the oral mucosa","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79280","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Angiokeratoma corporis diffusum (ACD) is typically characterized by innumerable small red to black papules which occur in clusters and are situated symmetrically in the bathing trunks area. The number of lesions and the extension of the body increase steadily with time so that generalization and mucosal involvement are common. The single lesion begins with a minute reddish papule which enlarges to up to 10 mm in diameter, becomes dark red to black with a discrete keratotic overgrowth. Histologically, the papules are characterized by superficial dilated capillaries in papillary dermis with epidermal proliferation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001071","HPO_Synonym__c":"Fabry syndrome","HPO_Name__c":"Angiokeratoma corporis diffusum","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79280","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:79280","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the lips.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000214","HPO_Synonym__c":"Labial telangiectasia; Lip telangiectases; Telangiectasia of the lips","HPO_Name__c":"Lip telangiectasia","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79280","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hyperkeratosis is a histopathological term defining a thickened stratum corneum and may be present in many different skin conditions, with many possible overlaps. Hyperkeratosis refers to the increased thickness of the stratum corneum, the outer layer of the skin. Hyperkeratosis is subclassified as orthokeratotic or parakeratotic. Orthokeratotic hyperkeratosis refers to the thickening of the keratin layer with preserved keratinocyte maturation, while parakeratotic hyperkeratosis shows retained nuclei as a sign of delayed maturation of keratinocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000962","HPO_Synonym__c":"Epidermal hyperkeratosis","HPO_Name__c":"Hyperkeratosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79280","HPO_Frequency__c":"Very frequent (80-99%)","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":"ORPHA:79280","HPO_Frequency__c":"Frequent (30-79%)","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:79280","HPO_Frequency__c":"Frequent (30-79%)","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:79280","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Slightly elevated lesions on or in the skin with a diameter of over 5 mm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001482","HPO_Synonym__c":"Firm lump under the skin; Growth of abnormal tissue under the skin","HPO_Name__c":"Subcutaneous nodule","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79280","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Presence of small, permanently dilated blood vessels near the surface of the skin, visible as small focal red lesions.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100585","HPO_Synonym__c":"Teleangiectasia of the skin","HPO_Name__c":"Telangiectasia of the skin","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79280","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:79280","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:79280","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000360","HPO_Synonym__c":"Ringing in ears; Ringing in the ears","HPO_Name__c":"Tinnitus","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"],"Account":["Lysosomal","Epilepsy"]},"synonyms":["adult-onset alpha-n-acetylgalactosaminidase deficiency"," alpha-n-acetylgalactosaminidase deficiency, type ii"," kanzaki disease"," naga (alpha-n-acetylgalactosaminidase) deficiency type 2"," naga deficiency type 2"," naga deficiency, type ii"," schindler disease type 2"," schindler disease, type ii"]}