{"Name":"Ichthyosis, cerebellar degeneration and hepatosplenomegaly","DiseaseID__c":"GARD:0001993","id":1993,"encodedName":"ichthyosis-cerebellar-degeneration-and-hepatosplenomegaly","IsDeleted":false,"Disease_Name_Full__c":"Ichthyosis, cerebellar degeneration and hepatosplenomegaly","Xref_IDs__c":"403779009; C1275088; C535727; MEDGEN:266150; MONDO:0009445; OMIM:242520; ORPHA:2274","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"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":2,"Description_Source__c":"MONDO:0009445","Disease_Description__c":"Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome is characterised by ichthyosis, hepatosplenomegaly and late-onset cerebellar ataxia. It has been described in two brothers. Transmission is either autosomal recessive or X-linked.","GARD_Name__c":"Ichthyosis, cerebellar degeneration and hepatosplenomegaly","GARD_Synonym__c":"dykes-markes-harper syndrome; dykes-marks-harper syndrome; ichthyosis hepatosplenomegaly cerebellar degeneration; ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome","Curated_Disease_Description_Source__c":"MONDO:0009445","Curated_Disease_Description__c":"Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome is characterized by ichthyosis, hepatosplenomegaly and late-onset cerebellar ataxia. It has been described in two brothers. Transmission is either autosomal recessive or X-linked.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:2274","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009445","ORPHANET_ID__c":"ORPHA:2274","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de ictiosis-hepatoesplenomegalia-degeneración cerebelosa","Spanish_Description_Source__c":"ORPHA:2274","Spanish_Description__c":"Es un síndrome caracterizado por ictiosis, hepatoesplenomegalia y ataxia cerebelosa de aparición tardía. Se ha descrito en dos hermanos. La transmisión es autosómica recesiva o ligada al cromosoma X.","Spanish_Disease_Name__c":"síndrome de ictiosis-hepatoesplenomegalia-degeneración cerebelosa","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:98006","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":"Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome is characterized by ichthyosis, hepatosplenomegaly and late-onset cerebellar ataxia. It has been described in two brothers. Transmission is either autosomal recessive or X-linked.","Curated_Disease_Description_Source__c":"MONDO:0009445","GARD_Synonym__c":"dykes-markes-harper syndrome; dykes-marks-harper syndrome; ichthyosis hepatosplenomegaly cerebellar degeneration; ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome","Name":"Ichthyosis, cerebellar degeneration and hepatosplenomegaly","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Ataxia Foundation","Website__c":"https://ataxia.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":"Ichthyosis","Tag_Category__c":"Account","curated_tag_name":"Ichthyosis"},{"Tag_Name__c":"Ataxia","Tag_Category__c":"Account","curated_tag_name":"Ataxia"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:2274"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:2274"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/242520","Source__c":"C1275088; MONDO:0009445; ORPHA:2274","Xref__c":"OMIM:242520"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1275088","Source__c":"C1275088","Xref__c":"C1275088"},{"URL__c":"https://www.orpha.net/en/disease/detail/2274","Source__c":"C1275088; MONDO:0009445; ORPHA:2274","Xref__c":"ORPHA:2274"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=266150","Source__c":"C1275088","Xref__c":"MEDGEN:266150"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=403779009","Source__c":"C1275088; MONDO:0009445","Xref__c":"403779009"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535727","Source__c":"MONDO:0009445","Xref__c":"C535727"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009445","Source__c":"GARD:0001993","Xref__c":"MONDO:0009445"}],"Inheritance__c":["Autosomal recessive","X-linked recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2274","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduction of neurologic reflexes such as the knee-jerk reaction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001265","HPO_Synonym__c":"Decreased reflex response; Decreased reflexes","HPO_Name__c":"Hyporeflexia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2274","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:2274","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:2274","HPO_Frequency__c":"Very frequent (80-99%)","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:2274","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:2274","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:2274","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormally increased size of the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002240","HPO_Synonym__c":"Enlarged liver","HPO_Name__c":"Hepatomegaly","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2274","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal increased size of the spleen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001744","HPO_Synonym__c":"Increased spleen size; Large spleen","HPO_Name__c":"Splenomegaly","Feature_System__c":"Cardiovascular System; Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Dermatology"],"Specialist":["Genetics","Neurology","Dermatology","Pediatrics"],"Account":["Dermatology","Ichthyosis","Ataxia"]},"synonyms":["dykes-markes-harper syndrome"," dykes-marks-harper syndrome"," ichthyosis hepatosplenomegaly cerebellar degeneration"," ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome"]}