{"Name":"Cerebellar ataxia-ectodermal dysplasia syndrome","DiseaseID__c":"GARD:0001189","id":1189,"encodedName":"cerebellar-ataxia-ectodermal-dysplasia-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Cerebellar ataxia-ectodermal dysplasia syndrome","Xref_IDs__c":"715371006; C1859306; C535350; MEDGEN:347850; MONDO:0008934; OMIM:212835; ORPHA:1174","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"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:0008934","Disease_Description__c":"A rare syndromic cerebellar ataxia characterized by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates a cerebellar atrophy.","GARD_Name__c":"Cerebellar ataxia-ectodermal dysplasia syndrome","GARD_Synonym__c":"cerebellar ataxia and ectodermal dysplasia; cerebellar ataxia co-occurrent with ectodermal dysplasia; ectodermal dysplasia and cerebellar ataxia","Curated_Disease_Description_Source__c":"MONDO:0008934","Curated_Disease_Description__c":"A rare syndromic cerebellar ataxia characterized by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates a cerebellar atrophy.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:1174","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008934","ORPHANET_ID__c":"ORPHA:1174","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de ataxia cerebelosa-displasia ectodérmica","Spanish_Description_Source__c":"ORPHA:1174","Spanish_Description__c":"Es una ataxia cerebelosa sindrómica poco frecuente caracterizada por hipodoncia y cabello escaso asociado a ataxia cerebelosa e inteligencia normal. La neuroimagen muestra atrofia cerebelosa.","Spanish_Disease_Name__c":"síndrome de ataxia cerebelosa-displasia ectodérmica","Spanish_GARD_Synonym__c":null,"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 syndromic cerebellar ataxia characterized by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates a cerebellar atrophy.","Curated_Disease_Description_Source__c":"MONDO:0008934","GARD_Synonym__c":"cerebellar ataxia and ectodermal dysplasia; cerebellar ataxia co-occurrent with ectodermal dysplasia; ectodermal dysplasia and cerebellar ataxia","Name":"Cerebellar ataxia-ectodermal dysplasia syndrome","estimateUsa":""}],"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":"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":"Ectodermal dysplasia","Tag_Category__c":"Account","curated_tag_name":"Ectodermal dysplasias"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:1174"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=715371006","Source__c":"C1859306; MONDO:0008934","Xref__c":"715371006"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=347850","Source__c":"C1859306","Xref__c":"MEDGEN:347850"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535350","Source__c":"MONDO:0008934","Xref__c":"C535350"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1859306","Source__c":"C1859306","Xref__c":"C1859306"},{"URL__c":"https://www.omim.org/entry/212835","Source__c":"C1859306; MONDO:0008934; ORPHA:1174","Xref__c":"OMIM:212835"},{"URL__c":"https://www.orpha.net/en/disease/detail/1174","Source__c":"C1859306; MONDO:0008934; ORPHA:1174","Xref__c":"ORPHA:1174"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008934","Source__c":"GARD:0001189","Xref__c":"MONDO:0008934"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1174","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hair that is fine or thin to the touch.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002213","HPO_Synonym__c":"Fine hair; Fine hair shaft; Fine hair texture; Thin hair; Thin hair shaft; Thin hair texture; Thinned hair","HPO_Name__c":"Fine hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1174","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001761","HPO_Synonym__c":"Cavus foot; High-arched foot","HPO_Name__c":"Pes cavus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1174","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced density of hairs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008070","HPO_Synonym__c":"Decreased hair growth; Decreased hair growth on body; Hypotrichosis; Marked hypotrichosis; Sparse hair; Sparse hair since birth","HPO_Name__c":"Sparse hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1174","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000691","HPO_Synonym__c":"Decreased size of tooth; Decreased width of tooth; Small teeth; Small tooth; Tooth hypoplasia; Tooth hypotrophy; Underdeveloped tooth","HPO_Name__c":"Microdontia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1174","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000325","HPO_Synonym__c":"Face with broad temples and narrow chin; Inverted triangular face; Triangular face; Triangular facial shape; Triangular facies","HPO_Name__c":"Triangular face","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1174","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000337","HPO_Synonym__c":"Bitemporal widening; Broad forehead; Increased bitemporal dimension; Increased bitemporal width; Increased width of the forehead; Intertemporal widening; Wide forehead","HPO_Name__c":"Broad forehead","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1174","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality in the sound (volume) or cadence (rate) of speech.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002167","HPO_Synonym__c":"Abnormal speech; Abnormal vocalization; Abnormality of speech or vocalization","HPO_Name__c":"Abnormal speech pattern","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1174","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Ataxia refers to impaired coordination of voluntary muscle movement. Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001251","HPO_Synonym__c":"Cerebellar ataxia","HPO_Name__c":"Ataxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1174","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The term gait disturbance can refer to any disruption of the ability to walk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001288","HPO_Synonym__c":"Abnormal gait; Abnormal walk; Difficulty in walking; Gait abnormalities; Gait difficulties; Gait disturbances; Impaired gait; Walking disability","HPO_Name__c":"Gait disturbance","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1174","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000028","HPO_Synonym__c":"Cryptorchism; Undescended testes; Undescended testis","HPO_Name__c":"Cryptorchidism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1174","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Protrusion of the contents of the abdominal cavity through the inguinal canal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000023","HPO_Name__c":"Inguinal hernia","Feature_System__c":"Musculoskeletal System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1174","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The absence of five or less teeth from the normal series by a failure to develop.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000668","HPO_Synonym__c":"Failure of development of between one and six teeth","HPO_Name__c":"Hypodontia","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Dermatology","Pediatrics"],"Account":["Dermatology","Ectodermal dysplasia"]},"synonyms":["cerebellar ataxia and ectodermal dysplasia"," cerebellar ataxia co-occurrent with ectodermal dysplasia"," ectodermal dysplasia and cerebellar ataxia"]}