{"Name":"Charcot-Marie-Tooth disease X-linked recessive 5","DiseaseID__c":"GARD:0000114","id":114,"encodedName":"charcot-marie-tooth-disease-x-linked-recessive-5","IsDeleted":false,"Disease_Name_Full__c":"Charcot-Marie-Tooth disease X-linked recessive 5","Xref_IDs__c":"763460007; C1839566; DOID:0110210; MEDGEN:374254; MONDO:0010699; OMIM:311070; ORPHA:99014","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":8,"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:0010699","Disease_Description__c":"A rare genetic peripheral sensorimotor neuropathy characterized by infancy-to childhood onset of progressive distal muscle weakness and atrophy (first appearing and more prominent in the lower extremities than the upper) which usually manifests with foot drop and gait disturbance, bilateral, profound, prelingual sensorineural hearing loss and progressive optic neuropathy.","GARD_Name__c":"Charcot-Marie-Tooth disease X-linked recessive 5","GARD_Synonym__c":"charcot-marie-tooth disease x-linked recessive type 5; charcot-marie-tooth disease, x-linked recessive, 5; charcot-marie-tooth disease, x-linked recessive, 5, x-linked recessive; charcot-marie-tooth disease, x-linked recessive, type 5; charcot-marie-tooth neuropathy x type 5; charcot-marie-tooth neuropathy x-linked recessive 5; charcot-marie-tooth neuropathy, x-linked recessive, 5; cmt5x; cmtx5; familial opticoacoustic nerve degeneration and polyneuropathy; optic atrophy, neural deafness, and distal neurogenic amyotrophy; optic atrophy, polyneuropathy, and deafness; optic atrophy, sensorineural hearing loss and polyneuropathy; prps1-related charcot-marie-tooth neuropathy x type 5; rosenberg chutorian syndrome; rosenberg-chutorian syndrome; x-linked charcot-marie-tooth disease type 5","Curated_Disease_Description_Source__c":"ORPHA:99014","Curated_Disease_Description__c":"A rare form of X-linked Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by infancy- to childhood-onset of: 1) progressive distal muscle weakness and atrophy (first appearing and more prominent in the lower extremities than the upper) which usually manifests with foot drop and gait disturbance, 2) bilateral, profound, prelingual sensorineural hearing loss and 3) progressive optic neuropathy.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Infant and as a Child","SourceID__c":"ORPHA:99014","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010699","ORPHANET_ID__c":"ORPHA:99014","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad de charcot-marie-tooth ligada al cromosoma x tipo 5","Spanish_Description_Source__c":"ORPHA:99014","Spanish_Description__c":"Es una forma poco frecuente de la enfermedad de Charcot-Marie-Tooth ligada al X, una neuropatía sensitivo-motora periférica, caracterizada por un inicio en la lactancia o la infancia de: 1) atrofia y debilidad progresiva del músculo distal (que se presenta por primera vez y de forma más prominente en las extremidades inferiores que en las superiores) que generalmente se manifiesta con la caída del pie y la alteración de la marcha; 2) pérdida auditiva neurosensorial prelocutiva bilateral y profunda; y 3) neuropatía óptica progresiva.","Spanish_Disease_Name__c":"enfermedad de charcot-marie-tooth ligada al cromosoma x tipo 5","Spanish_GARD_Synonym__c":"cmt5x; cmtx5","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 form of X-linked Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by infancy- to childhood-onset of: 1) progressive distal muscle weakness and atrophy (first appearing and more prominent in the lower extremities than the upper) which usually manifests with foot drop and gait disturbance, 2) bilateral, profound, prelingual sensorineural hearing loss and 3) progressive optic neuropathy.","Curated_Disease_Description_Source__c":"ORPHA:99014","GARD_Synonym__c":"charcot-marie-tooth disease x-linked recessive type 5; charcot-marie-tooth disease, x-linked recessive, 5; charcot-marie-tooth disease, x-linked recessive, 5, x-linked recessive; charcot-marie-tooth disease, x-linked recessive, type 5; charcot-marie-tooth neuropathy x type 5; charcot-marie-tooth neuropathy x-linked recessive 5; charcot-marie-tooth neuropathy, x-linked recessive, 5; cmt5x; cmtx5; familial opticoacoustic nerve degeneration and polyneuropathy; optic atrophy, neural deafness, and distal neurogenic amyotrophy; optic atrophy, polyneuropathy, and deafness; optic atrophy, sensorineural hearing loss and polyneuropathy; prps1-related charcot-marie-tooth neuropathy x type 5; rosenberg chutorian syndrome; rosenberg-chutorian syndrome; x-linked charcot-marie-tooth disease type 5","Name":"Charcot-Marie-Tooth disease X-linked recessive 5","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"CMT Research Foundation","Website__c":"https://cmtrf.org/"},{"Account_Name__c":"Muscular Dystrophy Canada","Website__c":"https://muscle.ca/"},{"Account_Name__c":"Charcot-Marie-Tooth Association Australia Inc.","Website__c":"https://www.cmt.org.au"}],"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":"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":"Otolaryngology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Peripheral Neuropathy","Tag_Category__c":"Account","curated_tag_name":"Peripheral neuropathy"},{"Tag_Name__c":"Neuro-Ophthalmology","Tag_Category__c":"Specialist","curated_tag_name":"Neuro-ophthalmic diseases"},{"Tag_Name__c":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"},{"Tag_Name__c":"Neuromuscular medicine","Tag_Category__c":"Specialist","curated_tag_name":"Neuromuscular medicine"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:99014"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:99014"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1839566"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1358","Source__c":"Gene Review","Xref__c":"NBK1358"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1876","Xref__c":"NBK1876"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK2591","Source__c":"Gene Review","Xref__c":"NBK2591"},{"URL__c":"https://www.omim.org/entry/311070","Source__c":"C1839566; MONDO:0010699; ORPHA:99014","Xref__c":"OMIM:311070"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=374254","Source__c":"C1839566","Xref__c":"MEDGEN:374254"},{"URL__c":"https://www.orpha.net/en/disease/detail/99014","Source__c":"C1839566; MONDO:0010699; ORPHA:99014","Xref__c":"ORPHA:99014"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1839566","Source__c":"C1839566","Xref__c":"C1839566"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=763460007","Source__c":"C1839566; MONDO:0010699","Xref__c":"763460007"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110210","Source__c":"MONDO:0010699","Xref__c":"DOID:0110210"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010699","Source__c":"GARD:0000114","Xref__c":"MONDO:0010699"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PRPS1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/prps1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["X-linked recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:99014","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":"ORPHA:99014","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A state of abnormally strong desire for sleep during the daytime.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001262","HPO_Synonym__c":"Excessive daytime sleepiness; More than typical sleepiness during day","HPO_Name__c":"Excessive daytime somnolence","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99014","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Peripheral neuropathy affecting the sensory nerves.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000763","HPO_Synonym__c":"Damage to nerves that sense feeling; Peripheral sensory neuropathy","HPO_Name__c":"Sensory neuropathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99014","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040129","HPO_Synonym__c":"Abnormal nerve conduction; Abnormal nerve conduction velocities; Nerve conduction abnormalities","HPO_Name__c":"Abnormal nerve conduction velocity","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_NCV"}},{"Provided_By__c":"ORPHA:99014","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Weakness or partial paralysis in the lower limbs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002385","HPO_Synonym__c":"Partial paralysis of legs","HPO_Name__c":"Paraparesis","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99014","HPO_Frequency__c":"Very frequent (80-99%)","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:99014","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Language impairment is a deficit in comprehension or production of language that includes reduced vocabulary, limited sentence structure, or impairments in written or spoken communication. Language abilities are substantially and quantifiably below age expectations.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002463","HPO_Synonym__c":"Language disorder","HPO_Name__c":"Language impairment","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99014","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of an abnormal lateral curvature of the spine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002650","HPO_Name__c":"Scoliosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99014","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Exaggerated anterior convexity of the thoracic vertebral column.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002808","HPO_Synonym__c":"Gibbus deformity; Hunched back; Hyperkyphosis; Round back","HPO_Name__c":"Kyphosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99014","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":"ORPHA:99014","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001260","HPO_Synonym__c":"Difficulty articulating speech; Dysarthric speech","HPO_Name__c":"Dysarthria","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99014","HPO_Frequency__c":"Occasional (5-29%)","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:99014","HPO_Frequency__c":"Occasional (5-29%)","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:99014","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An unintentional, oscillating to-and-fro muscle movement about a joint axis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001337","HPO_Synonym__c":"Tremor; Tremors","HPO_Name__c":"Tremor","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99014","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced ability to perceive painful stimuli.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007328","HPO_Synonym__c":"Decreased pain sensation; Decreased pinprick sensation; Impaired pain sensation","HPO_Name__c":"Impaired pain sensation","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99014","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal increase in muscle size and mass not due to training.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003712","HPO_Synonym__c":"Hypertrophic muscles; Increased skeletal muscle cells; Muscle hypertrophy; Muscular hypertrophy","HPO_Name__c":"Skeletal muscle hypertrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99014","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000648","HPO_Synonym__c":"Optic nerve atrophy; Optic-nerve degeneration","HPO_Name__c":"Optic atrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99014","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced strength of muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001324","HPO_Synonym__c":"Muscle weakness; Muscular weakness","HPO_Name__c":"Muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99014","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Absence of neurologic reflexes such as the knee-jerk reaction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001284","HPO_Synonym__c":"Absent deep tendon reflexes; Absent tendon reflexes; Deep tendon reflexes absent; Loss of deep tendon reflexes; Lost deep tendon reflexes","HPO_Name__c":"Areflexia","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","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Ophthalmology","Otolaryngology","Neuro-Ophthalmology","Neurodevelopmental disabilities","Neuromuscular medicine","Pediatrics"],"Account":["Peripheral Neuropathy"]},"synonyms":["charcot-marie-tooth disease x-linked recessive type 5"," charcot-marie-tooth disease, x-linked recessive, 5"," charcot-marie-tooth disease, x-linked recessive, 5, x-linked recessive"," charcot-marie-tooth disease, x-linked recessive, type 5"," charcot-marie-tooth neuropathy x type 5"," charcot-marie-tooth neuropathy x-linked recessive 5"," charcot-marie-tooth neuropathy, x-linked recessive, 5"," cmt5x"," cmtx5"," familial opticoacoustic nerve degeneration and polyneuropathy"," optic atrophy, neural deafness, and distal neurogenic amyotrophy"," optic atrophy, polyneuropathy, and deafness"," optic atrophy, sensorineural hearing loss and polyneuropathy"," prps1-related charcot-marie-tooth neuropathy x type 5"," rosenberg chutorian syndrome"," rosenberg-chutorian syndrome"," x-linked charcot-marie-tooth disease type 5"]}