{"Name":"Frontotemporal dementia and/or amyotrophic lateral sclerosis 7","DiseaseID__c":"GARD:0015322","id":15322,"encodedName":"frontotemporal-dementia-andor-amyotrophic-lateral-sclerosis-7","IsDeleted":false,"Disease_Name_Full__c":"Frontotemporal dementia and/or amyotrophic lateral sclerosis 7","Xref_IDs__c":"702393003; C1833296; C214863; C563708; C579991; DOID:0111227; MEDGEN:318833; MONDO:0010936; OMIM:600795","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":1,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0010936","Disease_Description__c":"Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the CHMP2B gene.","GARD_Name__c":"Frontotemporal dementia and/or amyotrophic lateral sclerosis 7","GARD_Synonym__c":"amyotrophic lateral sclerosis 17; amyotrophic lateral sclerosis caused by mutation in chmp2b; amyotrophic lateral sclerosis, chmp2b-related; chmp2b amyotrophic lateral sclerosis; chmp2b-related amyotrophic lateral sclerosis; chmp2b-related frontotemporal dementia; chromosome 3-linked frontotemporal dementia; frontotemporal dementia with gene located on 3p11; frontotemporal dementia, chromosome 3-linked; ftd3; ftdals7","Curated_Disease_Description_Source__c":"PlainLanguagePilotV2-Jan24","Curated_Disease_Description__c":"Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 (FTDALS7) is a rare, inherited brain disorder. It that typically affects adults. People with FTDALS7 may experience amyotrophic lateral sclerosis (ALS) symptoms. Or, they may experience frontotemporal dementia (FTD) symptoms. ALS symptoms include muscle loss and weakness of the upper and lower limbs, difficulty swallowing, and breathing problems. FTD symptoms involve changes in behavior and personality, memory loss, cognitive decline, and disinhibition, the inability to control one’s emotions or actions. In some cases, patients may have both ALS and FTD symptoms. FTDALS7 is caused by mutations in the CHMP2B gene. It is inherited in an autosomal dominant pattern. This means a single copy of the mutated gene is sufficient to cause the disorder.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:600795","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010936","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 (FTDALS7) is a rare, inherited brain disorder. It that typically affects adults. People with FTDALS7 may experience amyotrophic lateral sclerosis (ALS) symptoms. Or, they may experience frontotemporal dementia (FTD) symptoms. ALS symptoms include muscle loss and weakness of the upper and lower limbs, difficulty swallowing, and breathing problems. FTD symptoms involve changes in behavior and personality, memory loss, cognitive decline, and disinhibition, the inability to control one’s emotions or actions. In some cases, patients may have both ALS and FTD symptoms. FTDALS7 is caused by mutations in the CHMP2B gene. It is inherited in an autosomal dominant pattern. This means a single copy of the mutated gene is sufficient to cause the disorder.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV2-Jan24","GARD_Synonym__c":"amyotrophic lateral sclerosis 17; amyotrophic lateral sclerosis caused by mutation in chmp2b; amyotrophic lateral sclerosis, chmp2b-related; chmp2b amyotrophic lateral sclerosis; chmp2b-related amyotrophic lateral sclerosis; chmp2b-related frontotemporal dementia; chromosome 3-linked frontotemporal dementia; frontotemporal dementia with gene located on 3p11; frontotemporal dementia, chromosome 3-linked; ftd3; ftdals7","Name":"Frontotemporal dementia and/or amyotrophic lateral sclerosis 7","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"The Association for Frontotemporal Degeneration","Website__c":"https://www.theaftd.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Neuromuscular medicine","Tag_Category__c":"Specialist","curated_tag_name":"Neuromuscular medicine"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1450","Xref__c":"NBK1450"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1199","Source__c":"Gene Review","Xref__c":"NBK1199"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C579991","Source__c":"MONDO:0010936","Xref__c":"C579991"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1833296","Source__c":"C1833296","Xref__c":"C1833296"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563708","Source__c":"MONDO:0010936","Xref__c":"C563708"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=702393003","Source__c":"C1833296; MONDO:0010936","Xref__c":"702393003"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111227","Source__c":"MONDO:0010936","Xref__c":"DOID:0111227"},{"URL__c":"https://www.omim.org/entry/600795","Source__c":"C1833296; MONDO:0010936","Xref__c":"OMIM:600795"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=318833","Source__c":"C1833296","Xref__c":"MEDGEN:318833"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010936","Source__c":"GARD:0015322","Xref__c":"MONDO:0010936"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C214863","Source__c":"C1833296","Xref__c":"C214863"},{"URL__c":"https://medlineplus.gov/genetics/condition/chmp2b-related-frontotemporal-dementia","Source__c":"GARD:0015322","Xref__c":"https://medlineplus.gov/genetics/condition/chmp2b-related-frontotemporal-dementia"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CHMP2B","GHR_URL__c":"https://medlineplus.gov/genetics/gene/chmp2b","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:600795","Feature__r":{"HPO_Description__c":"An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002354","HPO_Synonym__c":"Amnesia; Forgetfulness; Memory impairment; Memory loss; Memory problems; Poor memory","HPO_Name__c":"Memory impairment","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600795","Feature__r":{"HPO_Description__c":"Use of the same abnormal action in response to certain triggers or at random. They may be used as a way to regulate one's internal state but must otherwise have no apparent functional purpose.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000733","HPO_Synonym__c":"Abnormal repetitive mannerism; Repetitive behavior; Repetitive movements; Repetitive, stereotypic behavior; Stereotyped; Stereotyped behavior; Stereotyped behaviors; Stereotypical motor behavior; Stereotypical motor behaviors; Stimming","HPO_Name__c":"Motor stereotypy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600795","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":"OMIM:600795","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002529","HPO_Synonym__c":"Loss of brain cells; Neuronal loss; Neuronal loss in CNS","HPO_Name__c":"Neuronal loss in central nervous system","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600795","Feature__r":{"HPO_Description__c":"Lack of insight (Anosognosia) is a neurological condition in which an individual is unaware of his or her own neurological deficit or psychiatric condition. Anosognosia can be associated with mental illness, dementia, and structural brain lesions and can affect an individual's conscious awareness of deficits involving judgment, emotions, memory, executive function, language skills, and motor ability.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000757","HPO_Synonym__c":"Anosognosia; Lack of insight","HPO_Name__c":"Lack of insight","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600795","Feature__r":{"HPO_Description__c":"Primitive reflexes traditionally held to be a sign of disorders that affect the frontal lobes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000743","HPO_Synonym__c":"Frontal release reflexes","HPO_Name__c":"Frontal release signs","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600795","Feature__r":{"HPO_Description__c":"Reduced ability to control, or a failure to resist a temptation, urge, or impulse. Examples include disregard for social conventions, general impulsivity, and poor risk assessment.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000734","HPO_Synonym__c":"Impulse control disorders; Lack of self-control","HPO_Name__c":"Disinhibition","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600795","Feature__r":{"HPO_Description__c":"Hyperorality is a condition characterized by an excessive preoccupation with oral sensations and behaviors, such as chewing, sucking, biting, swallowing, and excessive mouthing of objects.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000710","HPO_Synonym__c":"Hyperoralia; Hyperorality; Mouthing","HPO_Name__c":"Hyperorality","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600795","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002371","HPO_Synonym__c":"Loss of speech","HPO_Name__c":"Loss of speech","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600795","Feature__r":{"HPO_Description__c":"Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001336","HPO_Synonym__c":"Myoclonic jerks","HPO_Name__c":"Myoclonus","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600795","Feature__r":{"HPO_Description__c":"A specific learning disability involving mathematics and arithmetic.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002442","HPO_Synonym__c":"Acalculia","HPO_Name__c":"Dyscalculia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600795","Feature__r":{"HPO_Description__c":"Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003487","HPO_Synonym__c":"Extensor plantar reflexes; Extensor plantar response; Extensor plantar responses; Positive Babinski sign","HPO_Name__c":"Babinski sign","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600795","Feature__r":{"HPO_Description__c":"Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002063","HPO_Synonym__c":"Muscle rigidity; Rigidity","HPO_Name__c":"Rigidity","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600795","Feature__r":{"HPO_Description__c":"A dementia associated with degeneration of the frontotemporal lobe and clinically associated with personality and behavioral changes such as disinhibition, apathy, and lack of insight. The hallmark feature of frontotemporal dementia is the presentation with focal syndromes such as progressive language dysfunction, or aphasia, or behavioral changes characteristic of frontal lobe disorders.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002145","HPO_Name__c":"Frontotemporal dementia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600795","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002310","HPO_Synonym__c":"Orofacial dyskinesias","HPO_Name__c":"Orofacial dyskinesia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600795","Feature__r":{"HPO_Description__c":"Apathy is a quantitative reduction of interest, motivation and the initiation and persistence of goal-directed behavior, where often the accompanying emotions, thoughts, and social interactions are also diminished. The individual is typically non-reactive to provocations, positive or negative, and appears to not care. Distinguished from lethargy which involves lack of physical or mental energy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000741","HPO_Synonym__c":"Lack of feeling, emotion, interest; Lack of feeling, emotion, interest, motivation, initiation; State of indifference","HPO_Name__c":"Apathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600795","Feature__r":{"HPO_Description__c":"An explicit or perceived action, demonstration, conduct, or language (verbal and written) that is contrary to generally accepted norms, rules, procedures, or unacceptable within the context in which it is carried out. Inappropriate behaviors could take place in a sexual or social context and could be aggressive, violent, impulsive, intimidating, or threatening in nature.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000719","HPO_Synonym__c":"Inappropriate behavior","HPO_Name__c":"Inappropriate behavior","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600795","Feature__r":{"HPO_Description__c":"Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001347","HPO_Synonym__c":"Increased deep tendon reflexes; Increased reflexes","HPO_Name__c":"Hyperreflexia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600795","Feature__r":{"HPO_Description__c":"A state of unease is characterized by diffuse motor activity or motion, which is subject to limited control, nonproductive, or disorganized behavior.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000711","HPO_Synonym__c":"Fidgetiness; Restiveness","HPO_Name__c":"Restlessness","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600795","Feature__r":{"HPO_Description__c":"Behavior or an act aimed at harming a person, animal, or physical property (e.g., acts of physical violence; shouting, swearing, and using harsh language; slashing someone's tires).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000718","HPO_Synonym__c":"Aggression; Aggressive behavior; Aggressiveness","HPO_Name__c":"Aggressive behavior","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600795","Feature__r":{"HPO_Description__c":"Proliferation of astrocytes in the area of a lesion of the central nervous system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002446","HPO_Name__c":"Astrocytosis","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600795","Feature__r":{"HPO_Description__c":"An abnormal shift in patterns of thinking, acting, or feeling.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000751","HPO_Synonym__c":"Personality change; Personality changes","HPO_Name__c":"Personality changes","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600795","Feature__r":{"HPO_Description__c":"Atrophy of the cortex of the cerebrum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002120","HPO_Synonym__c":"Cerebral cortex atrophy; Cortical atrophy; Decrease in size of the outer layer of the brain due to loss of brain cells","HPO_Name__c":"Cerebral cortical atrophy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600795","Feature__r":{"HPO_Description__c":"Complete lack of speech or verbal communication in a person despite attempts to engage in conversation. Mutism as a phenomena assumes the individual has previous capacity for speech and in the pediatric population it assumes that the person is past the age of typical language development.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002300","HPO_Synonym__c":"Inability to speak; Muteness","HPO_Name__c":"Mutism","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600795","Feature__r":{"HPO_Description__c":"Loss of the ability to control the urinary bladder leading to involuntary urination.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000020","HPO_Synonym__c":"Bladder incontinence; Loss of bladder control","HPO_Name__c":"Urinary incontinence","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600795","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"}}],"tags":{"Specialist":["Neuromuscular medicine"]},"synonyms":["amyotrophic lateral sclerosis 17"," amyotrophic lateral sclerosis caused by mutation in chmp2b"," amyotrophic lateral sclerosis, chmp2b-related"," chmp2b amyotrophic lateral sclerosis"," chmp2b-related amyotrophic lateral sclerosis"," chmp2b-related frontotemporal dementia"," chromosome 3-linked frontotemporal dementia"," frontotemporal dementia with gene located on 3p11"," frontotemporal dementia, chromosome 3-linked"," ftd3"," ftdals7"]}