{"Name":"Charcot-Marie-Tooth disease axonal type 2P","DiseaseID__c":"GARD:0012435","id":12435,"encodedName":"charcot-marie-tooth-disease-axonal-type-2p","IsDeleted":false,"Disease_Name_Full__c":"Charcot-Marie-Tooth disease axonal type 2P","Xref_IDs__c":"719511005; C3280797; DOID:0110169; MEDGEN:482427; MONDO:0013753; OMIM:614436; ORPHA:300319","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:0013753","Disease_Description__c":"Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the LRSAM1 gene.","GARD_Name__c":"Charcot-Marie-Tooth disease axonal type 2P","GARD_Synonym__c":"autosomal dominant charcot-marie-tooth disease type 2g; charcot-marie-tooth disease caused by mutation in lrsam1; charcot-marie-tooth disease type 2p; charcot-marie-tooth disease, axonal, type 2g; charcot-marie-tooth disease, axonal, type 2p; charcot-marie-tooth neuropathy type 2g; charcot-marie-tooth neuropathy type 2p; charcot-marie-tooth neuropathy, type 2p; charcot-marie-toothe disease, axonal, type 2p; cmt 2g; cmt2p; cmt2p - charcot-marie-tooth disease type 2p; lrsam1 charcot-marie-tooth disease","Curated_Disease_Description_Source__c":"GARD:0012435","Curated_Disease_Description__c":"Charcot-Marie-Tooth disease type 2P (CMT2P) is a subtype of Charcot-Marie-Tooth caused by changes in the LRSAM1 gene. Symptoms may include mild loss of sensation in the fingertips and severe loss of sensation in the feet and legs. The most common type of sensation loss is to vibration, but proprioception (the sense of how we are oriented in space) and perception to pain may also be affected. Individuals with CMT2P may also have muscle twitches (fasciculations) and cramps (in younger patients) and muscular weakness and muscular wasting in the legs, feet and hands (in older individuals). It may be inherited in an autossomal dominant or autossomal recessive pattern.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Teenager and as an Adult","SourceID__c":"ORPHA:300319","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0013753","ORPHANET_ID__c":"ORPHA:300319","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad de charcot-marie-tooth tipo 2p","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"enfermedad de charcot-marie-tooth tipo 2p","Spanish_GARD_Synonym__c":"cmt2p","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":"Charcot-Marie-Tooth disease type 2P (CMT2P) is a subtype of Charcot-Marie-Tooth caused by changes in the LRSAM1 gene. Symptoms may include mild loss of sensation in the fingertips and severe loss of sensation in the feet and legs. The most common type of sensation loss is to vibration, but proprioception (the sense of how we are oriented in space) and perception to pain may also be affected. Individuals with CMT2P may also have muscle twitches (fasciculations) and cramps (in younger patients) and muscular weakness and muscular wasting in the legs, feet and hands (in older individuals). It may be inherited in an autossomal dominant or autossomal recessive pattern.","Curated_Disease_Description_Source__c":"GARD:0012435","GARD_Synonym__c":"autosomal dominant charcot-marie-tooth disease type 2g; charcot-marie-tooth disease caused by mutation in lrsam1; charcot-marie-tooth disease type 2p; charcot-marie-tooth disease, axonal, type 2g; charcot-marie-tooth disease, axonal, type 2p; charcot-marie-tooth neuropathy type 2g; charcot-marie-tooth neuropathy type 2p; charcot-marie-tooth neuropathy, type 2p; charcot-marie-toothe disease, axonal, type 2p; cmt 2g; cmt2p; cmt2p - charcot-marie-tooth disease type 2p; lrsam1 charcot-marie-tooth disease","Name":"Charcot-Marie-Tooth disease axonal type 2P","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","Website__c":"https://www.cmtausa.org/"},{"Account_Name__c":"Hereditary Neuropathy Foundation Inc.","Website__c":"https://www.hnf-cure.org/"},{"Account_Name__c":"Charcot-Marie-Tooth Association Australia Inc.","Website__c":"https://www.cmt.org.au"},{"Account_Name__c":"Charcot-Marie-Tooth UK","Website__c":"https://www.cmt.org.uk/"}],"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":"Peripheral Neuropathy","Tag_Category__c":"Account","curated_tag_name":"Peripheral neuropathy"},{"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":"Adolescent","Provided_By__c":"ORPHA:300319"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:300319"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C3280797"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0012435","Source__c":"RareSource"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=719511005","Source__c":"MONDO:0013753","Xref__c":"719511005"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=482427","Source__c":"C3280797","Xref__c":"MEDGEN:482427"},{"URL__c":"https://www.omim.org/entry/614436","Source__c":"C3280797; MONDO:0013753; ORPHA:300319","Xref__c":"OMIM:614436"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3280797","Source__c":"C3280797","Xref__c":"C3280797"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110169","Source__c":"MONDO:0013753","Xref__c":"DOID:0110169"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=782826009","Source__c":"C3280797","Xref__c":"782826009"},{"URL__c":"https://www.orpha.net/en/disease/detail/300319","Source__c":"MONDO:0013753","Xref__c":"ORPHA:300319"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0013753","Source__c":"GARD:0012435","Xref__c":"MONDO:0013753"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"LRSAM1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive","Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:614436","Feature__r":{"HPO_Description__c":"An abnormal reduction in sensation in the distal portions of the extremities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002936","HPO_Synonym__c":"Decreased distal sensation; Decreased sensation in extremities; Distal sensation loss; Distal sensory impairment in lower limbs; Distal sensory impairment of the lower extremities; Distal sensory loss; Distal sensory loss, upper and lower limbs; Loss of distal sensation","HPO_Name__c":"Distal sensory impairment","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614436","Feature__r":{"HPO_Description__c":"An abnormal gait pattern characterized by the failure of the heel to contact the floor at the onset of stance during gait.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030051","HPO_Synonym__c":"Tiptoe gait; Toe walking; Walking on tiptoes","HPO_Name__c":"Tip-toe gait","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614436","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":"OMIM:614436","Feature__r":{"HPO_Description__c":"An abnormal gait pattern that arises from weakness of the pretibial and peroneal muscles due to a lower motor neuron lesion. Affected patients have footdrop and are unable to dorsiflex and evert the foot. The leg is lifted high on walking so that the toes clear the ground, and there may be a slapping noise when the foot strikes the ground again.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003376","HPO_Synonym__c":"High stepping","HPO_Name__c":"Steppage gait","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614436","Feature__r":{"HPO_Description__c":"Reduced strength of the musculature of the distal extremities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002460","HPO_Synonym__c":"Distal limb muscle weakness; Distal limb weakness; Distal muscular weakness; Distal paresis; Muscle weakness, distal; Muscle weakness, distal limbs, due to neuronopathy; Weakness of distal muscles; Weakness of outermost muscles","HPO_Name__c":"Distal muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614436","Feature__r":{"HPO_Description__c":"Fasciculations are observed as small, local, involuntary muscle contractions (twitching) visible under the skin. Fasciculations result from increased irritability of an axon (which in turn is often a manifestation of disease of a motor neuron). This leads to sporadic discharges of all the muscle fibers controlled by the axon in isolation from other motor units.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002380","HPO_Synonym__c":"Fasciculation; Muscle fasciculation; Muscle twitch","HPO_Name__c":"Fasciculations","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614436","Feature__r":{"HPO_Description__c":"A pattern of simultaneous degeneration and regeneration of axons (see comment).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003378","HPO_Synonym__c":"Axon degeneration and regeneration","HPO_Name__c":"Axonal degeneration/regeneration","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614436","Feature__r":{"HPO_Description__c":"A decrease in the ability to perceive vibration in the distal portions of the limbs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006886","HPO_Synonym__c":"Decreased distal vibration sense","HPO_Name__c":"Impaired distal vibration sensation","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614436","Feature__r":{"HPO_Description__c":"Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards the shin. The foot dorsiflexors include the tibialis anterior, the extensor hallucis longus, the extensor digitorum longus, and the peroneus tertius muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009027","HPO_Synonym__c":"Foot drop; Foot extensor weakness; Footdrop; Inability to heel walk; Inability to walk on heels","HPO_Name__c":"Foot dorsiflexor weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614436","Feature__r":{"HPO_Description__c":"Muscular atrophy affecting muscles in the distal portions of the extremities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003693","HPO_Synonym__c":"Amyotrophy of distal limb muscles; Distal amyotrophy, especially of the hands and feet; Distal limb muscle atrophy; Distal muscle atrophy; Distal muscle atrophy, upper and lower limbs; Distal muscle degeneration; Distal muscle wasting; Distal muscular atrophy; Muscle atrophy, distal","HPO_Name__c":"Distal amyotrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614436","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040078","HPO_Name__c":"Axonal degeneration","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614436","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:614436","Feature__r":{"HPO_Description__c":"Progressive deterioration of peripheral axons.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000764","HPO_Name__c":"Peripheral axonal degeneration","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614436","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hyperextension of the metatarsal-phalangeal joint with hyperflexion of the proximal interphalangeal (PIP) joint.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001765","HPO_Synonym__c":"Hammer toe; Hammertoe; Hammertoes","HPO_Name__c":"Hammertoe","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614436","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":"OMIM:614436","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"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"Account":["Peripheral Neuropathy"]},"synonyms":["autosomal dominant charcot-marie-tooth disease type 2g"," charcot-marie-tooth disease caused by mutation in lrsam1"," charcot-marie-tooth disease type 2p"," charcot-marie-tooth disease, axonal, type 2g"," charcot-marie-tooth disease, axonal, type 2p"," charcot-marie-tooth neuropathy type 2g"," charcot-marie-tooth neuropathy type 2p"," charcot-marie-tooth neuropathy, type 2p"," charcot-marie-toothe disease, axonal, type 2p"," cmt 2g"," cmt2p"," cmt2p - charcot-marie-tooth disease type 2p"," lrsam1 charcot-marie-tooth disease"]}