{"Name":"Huppke-Brendel syndrome","DiseaseID__c":"GARD:0017365","id":17365,"encodedName":"huppke-brendel-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Huppke-Brendel syndrome","Xref_IDs__c":"C4751114; MEDGEN:1659966; MONDO:0013772; NBK542334; OMIM:614482; ORPHA:300313","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":6,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":1,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":2,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"ORPHA:300313","Disease_Description__c":"Congenital cataract-hearing loss-severe developmental delay syndrome is a rare, genetic, lethal, neurometabolic disease characterized by congenital cataracts, sensorineural hearing loss, severe psychomotor developmental delay, severe, generalized muscular hypotonia, and central nervous system abnormalities (incl. cerebellar and cerebral hypoplasia, hypomyelination, wide subarachnoid spaces), in the presence of low serum copper and ceruloplasmin. Nystagmus and seizures have also been reported.","GARD_Name__c":"Huppke-Brendel syndrome","GARD_Synonym__c":"acetyl coa transporter deficiency; acetyl-coa transporter deficiency; congenital cataract-deafness-severe developmental delay syndrome; congenital cataract-hearing loss-severe developmental delay syndrome; congenital cataract, deafness, severe developmental delay syndrome; congenital cataract, hearing loss, severe developmental delay syndrome; congenital cataracts, hearing loss, and neurodegeneration; lethal neurodegenerative disorder due to copper transport defect","Curated_Disease_Description_Source__c":"PlainLanguagePilotV2-Jan24","Curated_Disease_Description__c":"Congenital cataract-hearing loss-severe developmental delay syndrome is a rare, genetic condition. It is characterized by clouding of the lens in the eye that is present at birth (congenital cataracts). It also causes a type of hearing loss caused by damage to the inner ear or the nerve that runs from the ear to the brain (sensorineural hearing loss). Symptoms include psychomotor developmental delay. This means people have significant delays in acquiring motor skills and cognitive abilities. This condition can cause severe, generalized muscular hypotonia. Severe, generalized muscular hypotonia is low muscle tone throughout the body. Changes to the central nervous system are also present. These include an underdeveloped brain (cerebellar and cerebral hypoplasia). There may also be reduced myelin covering the nerves in the brain (hypomyelination). Further central nervous system changes include a wider than usual space between the brain and skull (subarachnoid spaces). This accompanies low blood levels of copper and a protein that transports copper called ceruloplasmin. In some cases, involuntary eye movement (nystagmus) and seizures may also be present.","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:300313","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0013772","ORPHANET_ID__c":"ORPHA:300313","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de cataratas congénitas-hipoacusia-retraso grave del desarrollo","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de cataratas congénitas-hipoacusia-retraso grave del desarrollo","Spanish_GARD_Synonym__c":"síndrome de cataratas congénitas-sordera-retraso grave del desarrollo; síndrome de huppke-brendel; trastorno neurodegenerativo letal por un defecto de transporte del cobre","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":"Congenital cataract-hearing loss-severe developmental delay syndrome is a rare, genetic condition. It is characterized by clouding of the lens in the eye that is present at birth (congenital cataracts). It also causes a type of hearing loss caused by damage to the inner ear or the nerve that runs from the ear to the brain (sensorineural hearing loss). Symptoms include psychomotor developmental delay. This means people have significant delays in acquiring motor skills and cognitive abilities. This condition can cause severe, generalized muscular hypotonia. Severe, generalized muscular hypotonia is low muscle tone throughout the body. Changes to the central nervous system are also present. These include an underdeveloped brain (cerebellar and cerebral hypoplasia). There may also be reduced myelin covering the nerves in the brain (hypomyelination). Further central nervous system changes include a wider than usual space between the brain and skull (subarachnoid spaces). This accompanies low blood levels of copper and a protein that transports copper called ceruloplasmin. In some cases, involuntary eye movement (nystagmus) and seizures may also be present.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV2-Jan24","GARD_Synonym__c":"acetyl coa transporter deficiency; acetyl-coa transporter deficiency; congenital cataract-deafness-severe developmental delay syndrome; congenital cataract-hearing loss-severe developmental delay syndrome; congenital cataract, deafness, severe developmental delay syndrome; congenital cataract, hearing loss, severe developmental delay syndrome; congenital cataracts, hearing loss, and neurodegeneration; lethal neurodegenerative disorder due to copper transport defect","Name":"Huppke-Brendel syndrome","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":"Child Neurology Foundation","Website__c":"https://www.childneurologyfoundation.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":"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"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:300313"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:300313"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK542334","Source__c":"Gene Review","Xref__c":"NBK542334"},{"URL__c":"https://www.orpha.net/en/disease/detail/300313","Source__c":"C4751114; MONDO:0013772; ORPHA:300313","Xref__c":"ORPHA:300313"},{"URL__c":"https://www.omim.org/entry/614482","Source__c":"C4751114; MONDO:0013772; ORPHA:300313","Xref__c":"OMIM:614482"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1659966","Source__c":"C4751114","Xref__c":"MEDGEN:1659966"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4751114","Source__c":"C4751114","Xref__c":"C4751114"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0013772","Source__c":"GARD:0017365","Xref__c":"MONDO:0013772"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=773648002","Source__c":"C4751114","Xref__c":"773648002"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SLC33A1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:614482","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:614482","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced amount of myelin in the central nervous system resulting from defective myelinogenesis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003429","HPO_Name__c":"CNS hypomyelination","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614482","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increase in size of the anatomic space between the arachnoid membrane and pia mater.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012704","HPO_Synonym__c":"Enlarged subarachnoid space","HPO_Name__c":"Widened subarachnoid space","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614482","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:614482","HPO_Frequency__c":"Frequent (30-79%)","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":"OMIM:614482","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Incapability to ambulate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002540","HPO_Synonym__c":"Inability to walk; Non-ambulatory","HPO_Name__c":"Inability to walk","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614482","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002059","HPO_Synonym__c":"Degeneration of cerebrum","HPO_Name__c":"Cerebral atrophy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614482","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000519","HPO_Synonym__c":"Bilateral congenital cataracts; Cataract, congenital; Clouding of the lens of the eye at birth; Congenital cataract; Congenital cataracts; Congenital cataracts, bilateral","HPO_Name__c":"Developmental cataract","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614482","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000639","HPO_Synonym__c":"Involuntary, rapid, rhythmic eye movements","HPO_Name__c":"Nystagmus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614482","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A severe delay in the achievement of motor or mental milestones in the domains of development of a child.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011344","HPO_Synonym__c":"Global developmental delay, severe","HPO_Name__c":"Severe global developmental delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614482","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Complete lack of development of speech and language abilities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001344","HPO_Synonym__c":"Absent speech development; Lack of language development; Lack of speech; No speech development; No speech or language development; Nonverbal","HPO_Name__c":"Absent speech","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614482","HPO_Frequency__c":"Very frequent (80-99%)","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"}},{"Provided_By__c":"OMIM:614482","Feature__r":{"HPO_Description__c":"Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001252","HPO_Synonym__c":"Low muscle tone; Low or weak muscle tone; Muscle hypotonia; Muscular hypotonia","HPO_Name__c":"Hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614482","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001272","HPO_Synonym__c":"Atrophic cerebellum; Degeneration of cerebellum","HPO_Name__c":"Cerebellar atrophy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Neurology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Neurology","Ophthalmology","Anterior segment of Eye","Neurodevelopmental disabilities","Pediatrics"]},"synonyms":["acetyl coa transporter deficiency"," acetyl-coa transporter deficiency"," congenital cataract-deafness-severe developmental delay syndrome"," congenital cataract-hearing loss-severe developmental delay syndrome"," congenital cataract, deafness, severe developmental delay syndrome"," congenital cataract, hearing loss, severe developmental delay syndrome"," congenital cataracts, hearing loss, and neurodegeneration"," lethal neurodegenerative disorder due to copper transport defect"]}