{"Name":"MEDNIK syndrome","DiseaseID__c":"GARD:0017072","id":17072,"encodedName":"mednik-syndrome","IsDeleted":false,"Disease_Name_Full__c":"MEDNIK syndrome","Xref_IDs__c":"722035007; C1836330; C563739; DOID:0060483; MEDGEN:322893; MONDO:0012251; OMIM:609313; ORPHA:171851","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":3,"Description_Source__c":"MONDO:0012251","Disease_Description__c":"A rare disorder of copper metabolism characterized by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis, and keratodermia.","GARD_Name__c":"MEDNIK syndrome","GARD_Synonym__c":"erythrokeratodermia variabilis 3; erythrokeratodermia variabilis kamouraska type; erythrokeratodermia variabilis, kamouraska type; intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome; intellectual disability-enteropathy-hearing loss-peripheral neuropathy-ichthyosis-keratodermia syndrome; intellectual disability, enteropathy, deafness, neuropathy, ichthyosis, keratodermia; intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome; mednik (mental retardation, enteropathy, deafness, peripheral neuropathy, ichtyosis, keratodermia) syndrome","Curated_Disease_Description_Source__c":"MONDO:0012251","Curated_Disease_Description__c":"A rare disorder of copper metabolism characterized by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis, and keratodermia.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy, at Birth, and as an Infant","SourceID__c":"ORPHA:171851","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012251","ORPHANET_ID__c":"ORPHA:171851","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome mednik","Spanish_Description_Source__c":"ORPHA:171851","Spanish_Description__c":"Es un trastorno del metabolismo del cobre poco frecuente que se caracteriza por discapacidad intelectual, enteropatía, pérdida auditiva neurosensorial, neuropatía periférica, ictiosis lamelar y eritrodérmica y queratodermia.","Spanish_Disease_Name__c":"síndrome mednik","Spanish_GARD_Synonym__c":"síndrome de discapacidad intelectual-enteropatía-hipoacusia-neuropatía periférica-ictiosis-queratodermia; síndrome de discapacidad intelectual-enteropatía-sordera-neuropatía periférica-ictiosis-queratodermia","Category_Linearization__c":"ORPHA:93890","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 rare disorder of copper metabolism characterized by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis, and keratodermia.","Curated_Disease_Description_Source__c":"MONDO:0012251","GARD_Synonym__c":"erythrokeratodermia variabilis 3; erythrokeratodermia variabilis kamouraska type; erythrokeratodermia variabilis, kamouraska type; intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome; intellectual disability-enteropathy-hearing loss-peripheral neuropathy-ichthyosis-keratodermia syndrome; intellectual disability, enteropathy, deafness, neuropathy, ichthyosis, keratodermia; intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome; mednik (mental retardation, enteropathy, deafness, peripheral neuropathy, ichtyosis, keratodermia) syndrome","Name":"MEDNIK syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Foundation for Ichthyosis and Related Skin Types","Website__c":"https://www.firstskinfoundation.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":"Dermatology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Skin diseases, or integumentary system diseases, affect the skin, hair, nails, sweat glands, or oil glands.","curated_tag_name":"Skin 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":"Otolaryngology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Ichthyosis","Tag_Category__c":"Account","curated_tag_name":"Ichthyosis"},{"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":"Neonatal","Provided_By__c":"ORPHA:171851"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:171851"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:171851"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=322893","Source__c":"C1836330","Xref__c":"MEDGEN:322893"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1836330","Source__c":"C1836330","Xref__c":"C1836330"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563739","Source__c":"MONDO:0012251","Xref__c":"C563739"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=722035007","Source__c":"C1836330; MONDO:0012251","Xref__c":"722035007"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060483","Source__c":"MONDO:0012251","Xref__c":"DOID:0060483"},{"URL__c":"https://www.omim.org/entry/609313","Source__c":"C1836330; MONDO:0012251; ORPHA:171851","Xref__c":"OMIM:609313"},{"URL__c":"https://www.orpha.net/en/disease/detail/171851","Source__c":"C1836330; MONDO:0012251; ORPHA:171851","Xref__c":"ORPHA:171851"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012251","Source__c":"GARD:0017072","Xref__c":"MONDO:0012251"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK609106","Source__c":"Gene Review","Xref__c":"NBK609106"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"AP1S1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:171851","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:171851","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008064","HPO_Synonym__c":"Ichthyosiform abnormality of the skin; Ichthyotic skin","HPO_Name__c":"Ichthyosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:171851","HPO_Frequency__c":"Very frequent (80-99%)","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:171851","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the intestine. The closely related term enteropathy is used to refer to any disease of the intestine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002242","HPO_Synonym__c":"Abnormality of the intestine; Enteropathy","HPO_Name__c":"Abnormal intestine morphology","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:171851","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Decreased concentration of ceruloplasmin in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010837","HPO_Synonym__c":"Decreased serum ceruloplasmin; Decreased serum ceruloplasminA; Hypoceruloplasminemia","HPO_Name__c":"Decreased circulating ceruloplasmin concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:171851","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:171851","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Impairment of bile flow due to obstruction in the small bile ducts within the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001406","HPO_Name__c":"Intrahepatic cholestasis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:171851","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A reduced concentration of copper in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011967","HPO_Synonym__c":"Copper deficiency; Hypocupremia; Reduced serum copper","HPO_Name__c":"Decreased circulating copper concentration","HPO_Feature_Type__c":"Lab"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Neurology","Dermatology","Inborn Errors of Metabolism","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Dermatology","Otolaryngology","Neurodevelopmental disabilities","Pediatrics"],"Account":["Dermatology","Ichthyosis"]},"synonyms":["erythrokeratodermia variabilis 3"," erythrokeratodermia variabilis kamouraska type"," erythrokeratodermia variabilis, kamouraska type"," intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome"," intellectual disability-enteropathy-hearing loss-peripheral neuropathy-ichthyosis-keratodermia syndrome"," intellectual disability, enteropathy, deafness, neuropathy, ichthyosis, keratodermia"," intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome"," mednik (mental retardation, enteropathy, deafness, peripheral neuropathy, ichtyosis, keratodermia) syndrome"]}