{"Name":"Amelocerebrohypohidrotic syndrome","DiseaseID__c":"GARD:0003128","id":3128,"encodedName":"amelocerebrohypohidrotic-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Amelocerebrohypohidrotic syndrome","Xref_IDs__c":"109478007; C0406740; C537213; DOID:0111668; MEDGEN:98036; MONDO:0009185; OMIM:226750; ORPHA:1946","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":3,"Description_Source__c":"MONDO:0009185","Disease_Description__c":"A genetically heterogeneous autosomal recessive syndrome characterized by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia.","GARD_Name__c":"Amelocerebrohypohidrotic syndrome","GARD_Synonym__c":"epilepsy and yellow teeth; epilepsy-dementia-amelogenesis imperfecta syndrome; epilepsy, dementia and amelogenesis imperfecta; epilepsy, dementia, and amelogenesis imperfecta; epilepsy, mental deterioration and yellow teeth; kohlschutter syndrome; kohlschutter-tonz syndrome; kohlschutter's syndrome; kohlschütter tönz syndrome; kohlschütter-tönz syndrome; ktzs","Curated_Disease_Description_Source__c":"MONDO:0009185","Curated_Disease_Description__c":"A genetically heterogeneous autosomal recessive syndrome characterized by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"from Birth to Childhood","SourceID__c":"ORPHA:1946","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009185","ORPHANET_ID__c":"ORPHA:1946","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome amelo-cerebro-hipohidrótico","Spanish_Description_Source__c":"ORPHA:1946","Spanish_Description__c":"Es un síndrome autosómico recesivo genéticamente heterogéneo caracterizado por la tríada de amelogénesis imperfecta, epilepsia de inicio en el lactante, discapacidad intelectual con o sin regresión y demencia.","Spanish_Disease_Name__c":"síndrome amelo-cerebro-hipohidrótico","Spanish_GARD_Synonym__c":"síndrome de kohlschütter-tonz","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 genetically heterogeneous autosomal recessive syndrome characterized by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia.","Curated_Disease_Description_Source__c":"MONDO:0009185","GARD_Synonym__c":"epilepsy and yellow teeth; epilepsy-dementia-amelogenesis imperfecta syndrome; epilepsy, dementia and amelogenesis imperfecta; epilepsy, dementia, and amelogenesis imperfecta; epilepsy, mental deterioration and yellow teeth; kohlschutter syndrome; kohlschutter-tonz syndrome; kohlschutter's syndrome; kohlschütter tönz syndrome; kohlschütter-tönz syndrome; ktzs","Name":"Amelocerebrohypohidrotic syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Foundation for Ectodermal Dysplasias","Website__c":"https://www.nfed.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":"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":"Odontology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Ectodermal dysplasia","Tag_Category__c":"Account","curated_tag_name":"Ectodermal dysplasias"},{"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":"Infancy","Provided_By__c":"ORPHA:1946"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:1946"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:1946"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0406740"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0003128","Source__c":"RareSource"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111668","Source__c":"MONDO:0009185","Xref__c":"DOID:0111668"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=98036","Source__c":"C0406740","Xref__c":"MEDGEN:98036"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537213","Source__c":"MONDO:0009185","Xref__c":"C537213"},{"URL__c":"https://www.omim.org/entry/226750","Source__c":"C0406740; MONDO:0009185; ORPHA:1946","Xref__c":"OMIM:226750"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=109478007","Source__c":"C0406740; MONDO:0009185","Xref__c":"109478007"},{"URL__c":"https://www.orpha.net/en/disease/detail/1946","Source__c":"C0406740; MONDO:0009185; ORPHA:1946","Xref__c":"ORPHA:1946"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0406740","Source__c":"C0406740","Xref__c":"C0406740"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009185","Source__c":"GARD:0003128","Xref__c":"MONDO:0009185"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ROGDI","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1946","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Loss of previously present mental abilities, generally in adults.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001268","HPO_Synonym__c":"Cognitive decline; Cognitive decline, progressive; Intellectual deterioration; Mental deterioration; Progressive cognitive decline","HPO_Name__c":"Mental deterioration","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1946","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:1946","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Severe intellectual disability (ID) is defined as a type of ID characterized by severely sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 20-34.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010864","HPO_Synonym__c":"Early and severe mental retardation; Intellectual disability, severe; Mental retardation, severe; Severe mental retardation","HPO_Name__c":"Severe intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1946","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:1946","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006286","HPO_Synonym__c":"Yellow-brown discoloration of the teeth; Yellow-brown discolored teeth; Yellow-brown tooth shade","HPO_Name__c":"Yellow-brown discoloration of the teeth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1946","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A developmental dysplasia of the dental enamel.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000705","HPO_Name__c":"Amelogenesis imperfecta","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1946","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:1946","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the dental enamel.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000682","HPO_Synonym__c":"Abnormal tooth enamel; Abnormality of dental enamel; Enamel abnormalities; Enamel abnormality","HPO_Name__c":"Abnormal dental enamel morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1946","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A height below that which is expected according to age and sex norms. Although there is no universally accepted definition of short stature, many refer to \\\"short stature\\\" as height more than 2 standard deviations below the mean for age and sex (or below the 3rd percentile for age and sex dependent norms).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004322","HPO_Synonym__c":"Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile","HPO_Name__c":"Short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1946","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A developmental defect of tooth color.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011073","HPO_Synonym__c":"Abnormality of dental color; Abnormality of dental shade; Abnormality of tooth color; Abnormality of tooth shade","HPO_Name__c":"Abnormality of dental color","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1946","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally diminished capacity to sweat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000966","HPO_Synonym__c":"Decreased ability to sweat; Decreased sweating; Impaired sweating; Inadequate sweating; Oligohidrosis; Sweating, decreased","HPO_Name__c":"Hypohidrosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1946","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000238","HPO_Synonym__c":"Hydrocephaly; Nonsyndromal hydrocephalus; Too much cerebrospinal fluid in the brain","HPO_Name__c":"Hydrocephalus","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1946","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000726","HPO_Synonym__c":"Dementia; Dementia, progressive; Progressive dementia","HPO_Name__c":"Dementia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1946","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002353","HPO_Synonym__c":"Abnormal EEG; Abnormal electroencephalogram; EEG abnormalities; Electroencephalogram abnormal; Electroencephalogram abnormalities","HPO_Name__c":"EEG abnormality","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_EEG"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Dermatology","Odontology","Neurodevelopmental disabilities","Pediatrics"],"Account":["Dermatology","Ectodermal dysplasia"]},"synonyms":["epilepsy and yellow teeth"," epilepsy-dementia-amelogenesis imperfecta syndrome"," epilepsy, dementia and amelogenesis imperfecta"," epilepsy, dementia, and amelogenesis imperfecta"," epilepsy, mental deterioration and yellow teeth"," kohlschutter syndrome"," kohlschutter-tonz syndrome"," kohlschutter's syndrome"," kohlschütter tönz syndrome"," kohlschütter-tönz syndrome"," ktzs"]}