{"Name":"Sterol carrier protein 2 deficiency","DiseaseID__c":"GARD:0012471","id":12471,"encodedName":"sterol-carrier-protein-2-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Sterol carrier protein 2 deficiency","Xref_IDs__c":"C3150990; MEDGEN:462340; MONDO:0013391; OMIM:613724; ORPHA:163684","USA_Estimate__c":"1,000","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":"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":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0013391","Disease_Description__c":"Leukoencephalopathy-dystonia-motor neuropathy syndrome is a peroxisomal neurodegenerative disorder characterized by spasmodic torticollis, dystonic head tremor, intention tremor, nystagmus, hyposmia, and hypergonadotrophic hypogonadism with azoospermia. Slight cerebellar signs (left-sided intention tremor, balance and gait impairment) are also noted. Magnetic resonance imaging (MRI) shows bilateral hyperintense signals in the thalamus, butterfly-like lesions in the pons, and lesions in the occipital region, whereas nerve conduction studies of the lower extremities shows a predominantly motor and slight sensory neuropathy.","GARD_Name__c":"Sterol carrier protein 2 deficiency","GARD_Synonym__c":"deficiency of sterol carrier protein x; leukoencephalopathy with dystonia and motor neuropathy; leukoencephalopathy-dystonia-motor neuropathy syndrome; leukoencephalopathy, dystonia, motor neuropathy syndrome; scp2 deficiency; scpx (sterol carrier protein x) deficiency; sterol carrier protein x deficiency; sterol carrier protein-2 deficiency","Curated_Disease_Description_Source__c":"MONDO:0013391","Curated_Disease_Description__c":"Leukoencephalopathy-dystonia-motor neuropathy syndrome is a peroxisomal neurodegenerative disorder characterized by spasmodic torticollis, dystonic head tremor, intention tremor, nystagmus, hyposmia, and hypergonadotrophic hypogonadism with azoospermia. Slight cerebellar signs (left-sided intention tremor, balance and gait impairment) are also noted. Magnetic resonance imaging (MRI) shows bilateral hyperintense signals in the thalamus, butterfly-like lesions in the pons, and lesions in the occipital region, whereas nerve conduction studies of the lower extremities shows a predominantly motor and slight sensory neuropathy.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:163684","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0013391","ORPHANET_ID__c":"ORPHA:163684","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de leucoencefalopatía-distonía-neuropatía motora","Spanish_Description_Source__c":"ORPHA:163684","Spanish_Description__c":"Es un trastorno neurodegenerativo peroxisomal caracterizado por tortícolis espasmódica, temblor distónico de cabeza, temblor de intención, nistagmo, hiposmia e hipogonadismo hipergonadotrófico con azoospermia. También se observan leves trastornos cerebelosos (temblor de intención en el lado izquierdo, alteraciones del equilibrio y de la marcha). La resonancia magnética (RM) muestra hiperintensidad talámica bilateral, lesiones del tronco cerebral ''en mariposa'' y lesiones en la región occipital. Los estudios de la velocidad de conducción nerviosa de las extremidades inferiores muestran una neuropatía predominantemente motora y ligeramente sensitiva.","Spanish_Disease_Name__c":"síndrome de leucoencefalopatía-distonía-neuropatía motora","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":"Leukoencephalopathy-dystonia-motor neuropathy syndrome is a peroxisomal neurodegenerative disorder characterized by spasmodic torticollis, dystonic head tremor, intention tremor, nystagmus, hyposmia, and hypergonadotrophic hypogonadism with azoospermia. Slight cerebellar signs (left-sided intention tremor, balance and gait impairment) are also noted. Magnetic resonance imaging (MRI) shows bilateral hyperintense signals in the thalamus, butterfly-like lesions in the pons, and lesions in the occipital region, whereas nerve conduction studies of the lower extremities shows a predominantly motor and slight sensory neuropathy.","Curated_Disease_Description_Source__c":"MONDO:0013391","GARD_Synonym__c":"deficiency of sterol carrier protein x; leukoencephalopathy with dystonia and motor neuropathy; leukoencephalopathy-dystonia-motor neuropathy syndrome; leukoencephalopathy, dystonia, motor neuropathy syndrome; scp2 deficiency; scpx (sterol carrier protein x) deficiency; sterol carrier protein x deficiency; sterol carrier protein-2 deficiency","Name":"Sterol carrier protein 2 deficiency","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"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":"Leukodystrophy","Tag_Category__c":"Account;Cause;Disease Category","category_description":"Leukodystrophies are a group of genetic neurological diseases that affect the white matter of the brain and spinal cord.","curated_tag_name":"Leukodystrophies"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:163684"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C3150990"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0012471","Source__c":"RareSource"},{"URL__c":"https://www.omim.org/entry/613724","Source__c":"C3150990; MONDO:0013391; ORPHA:163684","Xref__c":"OMIM:613724"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3150990","Source__c":"C3150990","Xref__c":"C3150990"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=462340","Source__c":"C3150990","Xref__c":"MEDGEN:462340"},{"URL__c":"https://www.orpha.net/en/disease/detail/163684","Source__c":"C3150990; MONDO:0013391","Xref__c":"ORPHA:163684"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0013391","Source__c":"GARD:0012471","Xref__c":"MONDO:0013391"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1296861002","Source__c":"C3150990","Xref__c":"1296861002"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SCP2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:613724","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Involuntary contractions of the neck musculature resulting in an abnormal posture of or abnormal movements of the head.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000473","HPO_Synonym__c":"Cervical dystonia; Loxia; Spasmodic torticollis; Wry neck","HPO_Name__c":"Torticollis","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:613724","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Concentration of pristanic acid in the blood circulation above the upper limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0034721","HPO_Name__c":"Elevated circulating pristanic acid concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:613724","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001332","HPO_Synonym__c":"Dystonic movements","HPO_Name__c":"Dystonia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:613724","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:613724","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000815","HPO_Synonym__c":"Hypergonadotrophic hypogonadism; Primary hypogonadism","HPO_Name__c":"Hypergonadotropic hypogonadism","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:613724","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a localized hyperintensity affecting a particular region of the thalamus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012692","HPO_Name__c":"Focal T2 hyperintense thalamic lesion","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Imaging_MRI"}},{"Provided_By__c":"OMIM:613724","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":"OMIM:613724","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A decreased sensitivity to odorants (that is, a decreased ability to perceive odors).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004409","HPO_Synonym__c":"Decreased smell sensation; Sense of smell impaired","HPO_Name__c":"Hyposmia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:613724","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of decreased nerve conduction velocity that affects the motor neuron.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003431","HPO_Synonym__c":"Decreased motor NCV; Decreased motor nerve conduction velocities; Reduced motor nerve conduction velocity","HPO_Name__c":"Decreased motor nerve conduction velocity","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_NCV"}},{"Provided_By__c":"OMIM:613724","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormally slow velocity of the saccadic eye movements.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000514","HPO_Synonym__c":"Slow eye movements; Slow saccades; Slow visual tracking","HPO_Name__c":"Slow saccadic eye movements","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:613724","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"This term describes abnormality of the white matter of the cerebrum resulting from damage to the myelin sheaths of nerve cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002352","HPO_Name__c":"Leukoencephalopathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:613724","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A decrease in the ability to perceive vibration. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to bony prominences such as the malleoli at the ankles or the metacarpal-phalangeal joints. There is a slow decay of vibration from the tuning fork. The degree of vibratory sense loss can be crudely estimated by counting the number of seconds that the examiner can perceive the vibration longer than the patient.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002495","HPO_Synonym__c":"Decreased vibration sense; Decreased vibratory sense; Diminished vibratory sense; Hypopallesthesia; Impaired vibratory sensation; Impaired vibratory sense","HPO_Name__c":"Impaired vibratory sensation","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:613724","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An unintentional, oscillating to-and-fro muscle movement affecting head movement.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002346","HPO_Synonym__c":"Head tremor","HPO_Name__c":"Head tremor","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:613724","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of kinetic tremor that occurs during target directed movement is called intention tremor. That is, an oscillatory cerebellar ataxia that tends to be absent when the limbs are inactive and during the first part of voluntary movement but worsening as the movement continues and greater precision is required (e.g., in touching a target such as the patient's nose or a physician's finger).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002080","HPO_Name__c":"Intention tremor","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:613724","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Absence of any measurable level of sperm,whereby spermatozoa cannot be observed even after centrifugation of the semen pellet.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000027","HPO_Synonym__c":"Absent sperm in semen","HPO_Name__c":"Azoospermia","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism","Leukodystrophy"],"Disease Category":["Genetics","Neurology","Inborn Errors of Metabolism","Leukodystrophy"],"Specialist":["Genetics","Neurology","Pediatrics"],"Account":["Leukodystrophy"]},"synonyms":["deficiency of sterol carrier protein x"," leukoencephalopathy with dystonia and motor neuropathy"," leukoencephalopathy-dystonia-motor neuropathy syndrome"," leukoencephalopathy, dystonia, motor neuropathy syndrome"," scp2 deficiency"," scpx (sterol carrier protein x) deficiency"," sterol carrier protein x deficiency"," sterol carrier protein-2 deficiency"]}