{"Name":"Agenesis of the corpus callosum with peripheral neuropathy","DiseaseID__c":"GARD:0001537","id":1537,"encodedName":"agenesis-of-the-corpus-callosum-with-peripheral-neuropathy","IsDeleted":false,"Disease_Name_Full__c":"Agenesis of the corpus callosum with peripheral neuropathy","Xref_IDs__c":"702439002; C0795950; C536446; DOID:0090003; MEDGEN:162893; MONDO:0000902; OMIM:218000; ORPHA:1496","USA_Estimate__c":"200,000","No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"800,000 to 5,000,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":5,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0000902","Disease_Description__c":"A rare neurodegenerative disorder characterized by severe progressive sensorimotor neuropathy beginning in infancy with resulting hypotonia, areflexia, amyotrophy and variable degrees of dysgenesis of the corpus callosum. Additional features include mild-to-severe intellectual and developmental delays, and psychiatric manifestations that include paranoid delusions, depression, hallucinations, and 'autistic-like' features. Affected individuals are usually wheelchair restricted in the second decade of life and die in the third decade of life. The disease is inherited as an autosomal recessive trait.","GARD_Name__c":"Agenesis of the corpus callosum with peripheral neuropathy","GARD_Synonym__c":"accpn; agenesis of corpus callosum with peripheral neuropathy; agenesis of corpus callosum with polyneuropathy; andermann syndrome; charlevoix disease; corpus callosum agenesis-neuronopathy syndrome; hereditary motor and sensory neuropathy with agenesis of the corpus callosum; hmsn/acc; peripheral neuropathy associated with agenesis of the corpus callosum; polyneuropathy, sensorimotor, with or without agenesis of the corpus callosum","Curated_Disease_Description_Source__c":"GARD:0001537","Curated_Disease_Description__c":"Andermann syndrome is a disorder that damages the nerves used for muscle movement and sensation (motor and sensory neuropathy). The neuropathy in this condition is due to poor development of nerves, particularly nerves that control movement, which are half their normal size. Absence (agenesis) or malformation of the tissue connecting the left and right halves of the brain (corpus callosum) occurs in most people with this disorder. Because of these features, Andermann syndrome is sometimes referred to as hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC). People affected by Andermann syndrome have abnormal or absent reflexes (areflexia) and weak muscle tone (hypotonia). They experience muscle wasting (amyotrophy), severe progressive weakness and loss of sensation in the limbs, and rhythmic shaking (tremors).  People with Andermann syndrome typically begin walking between ages 3 and 4, and worsening neuropathy causes them to lose this ability by their teenage years. As they get older, people with this disorder frequently develop joint deformities called contractures, which restrict the movement of certain joints. Most affected individuals also develop abnormal curvature of the spine (scoliosis), which may require surgery. Andermann syndrome also results in abnormal function of certain cranial nerves, which emerge directly from the brain and extend to various areas of the head and neck. Cranial nerve problems may result in facial muscle weakness, drooping eyelids (ptosis), and difficulty following movements with the eyes (gaze palsy). Individuals with Andermann syndrome usually have intellectual disability, which may be mild to severe, and some experience seizures. They may also develop psychiatric symptoms such as depression, anxiety, agitation, paranoia, and hallucinations, which usually appear in adolescence. Some people with Andermann syndrome have atypical physical features such as widely spaced eyes (ocular hypertelorism); a wide, short skull (brachycephaly); a high arch of the hard palate at the roof of the mouth; a big toe that crosses over the other toes; and partial fusion (syndactyly) of the second and third toes. Andermann syndrome is associated with a shortened life expectancy related to respiratory insufficiency, but affected individuals typically live into adulthood.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"200,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:1496","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0000902","ORPHANET_ID__c":"ORPHA:1496","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de agenesia de cuerpo calloso-neuropatía","Spanish_Description_Source__c":"ORPHA:1496","Spanish_Description__c":"Es un trastorno neurodegenerativo caracterizado por una neuropatía sensitivo-motora grave y progresiva, que comienza en la lactancia con hipotonía, arreflexia, amiotrofia y diferentes grados de disgenesia del cuerpo calloso. Otras características adicionales incluyen retraso intelectual y del desarrollo psicomotor de leve a grave, y manifestaciones psiquiátricas que incluyen delirios paranoicos, depresión, alucinaciones y rasgos autistas. Los afectados suelen depender de una silla de ruedas en la segunda década de la vida y su esperanza de vida no sobrepasa la tercera década. La enfermedad se hereda según un patrón de herencia autosómico recesivo.","Spanish_Disease_Name__c":"síndrome de agenesia de cuerpo calloso-neuropatía","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":"Andermann syndrome is a disorder that damages the nerves used for muscle movement and sensation (motor and sensory neuropathy). The neuropathy in this condition is due to poor development of nerves, particularly nerves that control movement, which are half their normal size. Absence (agenesis) or malformation of the tissue connecting the left and right halves of the brain (corpus callosum) occurs in most people with this disorder. Because of these features, Andermann syndrome is sometimes referred to as hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC). People affected by Andermann syndrome have abnormal or absent reflexes (areflexia) and weak muscle tone (hypotonia). They experience muscle wasting (amyotrophy), severe progressive weakness and loss of sensation in the limbs, and rhythmic shaking (tremors).  People with Andermann syndrome typically begin walking between ages 3 and 4, and worsening neuropathy causes them to lose this ability by their teenage years. As they get older, people with this disorder frequently develop joint deformities called contractures, which restrict the movement of certain joints. Most affected individuals also develop abnormal curvature of the spine (scoliosis), which may require surgery. Andermann syndrome also results in abnormal function of certain cranial nerves, which emerge directly from the brain and extend to various areas of the head and neck. Cranial nerve problems may result in facial muscle weakness, drooping eyelids (ptosis), and difficulty following movements with the eyes (gaze palsy). Individuals with Andermann syndrome usually have intellectual disability, which may be mild to severe, and some experience seizures. They may also develop psychiatric symptoms such as depression, anxiety, agitation, paranoia, and hallucinations, which usually appear in adolescence. Some people with Andermann syndrome have atypical physical features such as widely spaced eyes (ocular hypertelorism); a wide, short skull (brachycephaly); a high arch of the hard palate at the roof of the mouth; a big toe that crosses over the other toes; and partial fusion (syndactyly) of the second and third toes. Andermann syndrome is associated with a shortened life expectancy related to respiratory insufficiency, but affected individuals typically live into adulthood.","Curated_Disease_Description_Source__c":"GARD:0001537","GARD_Synonym__c":"accpn; agenesis of corpus callosum with peripheral neuropathy; agenesis of corpus callosum with polyneuropathy; andermann syndrome; charlevoix disease; corpus callosum agenesis-neuronopathy syndrome; hereditary motor and sensory neuropathy with agenesis of the corpus callosum; hmsn/acc; peripheral neuropathy associated with agenesis of the corpus callosum; polyneuropathy, sensorimotor, with or without agenesis of the corpus callosum","Name":"Agenesis of the corpus callosum with peripheral neuropathy","Curated_USA_Estimate__c":"200,000","estimateUsa":"200,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Muscular Dystrophy Canada","Website__c":"https://muscle.ca/"},{"Account_Name__c":"National Organization of Disorders of the Corpus Callosum","Website__c":"https://nodcc.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":"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":"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":"Antenatal","Provided_By__c":"ORPHA:1496"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:1496"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0795950"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0001537","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1372","Source__c":"Gene Review","Xref__c":"NBK1372"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536446","Source__c":"MONDO:0000902","Xref__c":"C536446"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0090003","Source__c":"MONDO:0000902","Xref__c":"DOID:0090003"},{"URL__c":"https://www.orpha.net/en/disease/detail/1496","Source__c":"C0795950; MONDO:0000902; ORPHA:1496","Xref__c":"ORPHA:1496"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0795950","Source__c":"C0795950","Xref__c":"C0795950"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=162893","Source__c":"C0795950","Xref__c":"MEDGEN:162893"},{"URL__c":"https://www.omim.org/entry/218000","Source__c":"C0795950; MONDO:0000902; ORPHA:1496","Xref__c":"OMIM:218000"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=702439002","Source__c":"C0795950; MONDO:0000902","Xref__c":"702439002"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0000902","Source__c":"GARD:0001537","Xref__c":"MONDO:0000902"},{"URL__c":"https://medlineplus.gov/genetics/condition/andermann-syndrome","Source__c":"GARD:0001537","Xref__c":"https://medlineplus.gov/genetics/condition/andermann-syndrome"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SLC12A6","GHR_URL__c":"https://medlineplus.gov/genetics/gene/slc12a6","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1496","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Head circumference below 2 standard deviations below the mean for age and sex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000252","HPO_Synonym__c":"Abnormally small cranium; Abnormally small skull; Decreased circumference of cranium; Decreased size of cranium; Decreased size of skull; Reduced head circumference; small cranium; Small head circumference","HPO_Name__c":"Microcephaly","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1496","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000486","HPO_Synonym__c":"Cross-eyed; Squint; Squint eyes","HPO_Name__c":"Strabismus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1496","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Stenosis of the cerebral aqueduct (also known as the mesencephalic duct, aqueductus mesencephali, or aqueduct of Sylvius), which connects the third cerebral ventricle in the diencephalon to the fourth ventricle, which is between the pons and cerebellum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002410","HPO_Synonym__c":"Aqueduct of Sylvius stenosis; Aqueduct stenosis; Narrowing of aqueduct of Sylvius","HPO_Name__c":"Aqueductal stenosis","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1496","HPO_Frequency__c":"Very frequent (80-99%)","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":"ORPHA:1496","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a severe or complete loss of strength, whereas hemiparesis refers to a relatively mild loss of strength.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004374","HPO_Synonym__c":"Paralysis or weakness of one side of body","HPO_Name__c":"Hemiplegia/hemiparesis","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1496","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002353","HPO_Synonym__c":"Abnormal EEG; Abnormal electroencephalogram; EEG abnormalities; Electroencephalogram abnormal; Electroencephalogram abnormalities","HPO_Name__c":"EEG abnormality","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_EEG"}},{"Provided_By__c":"ORPHA:1496","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001274","HPO_Synonym__c":"Absence of corpus callosum; Absent corpus callosum; Agenesis of the corpus callosum; Callosal agenesis; Corpus callosum agenesis; Dysplastic or absent corpus callosum","HPO_Name__c":"Agenesis of corpus callosum","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1496","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001263","HPO_Synonym__c":"Delayed cognitive development; Delayed development; Delayed developmental milestones; Delayed intellectual development; Delayed milestones; Delayed psychomotor development; Developmental delay; Developmental delay in early childhood; Developmental delay, global; Developmental retardation; GDD; Lack of psychomotor development; Motor and developmental delay; Motormental retardation; Psychomotor delay; Psychomotor development deficiency; Psychomotor development failure; Psychomotor developmental delay; Retarded development; Retarded mental development; Retarded psychomotor development","HPO_Name__c":"Global developmental delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1496","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001249","HPO_Synonym__c":"Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation","HPO_Name__c":"Intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1496","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000545","HPO_Synonym__c":"Close sighted; Near sighted; Near sightedness; Nearsightedness","HPO_Name__c":"Myopia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1496","HPO_Frequency__c":"Occasional (5-29%)","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":"ORPHA:1496","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001363","HPO_Synonym__c":"Cranial suture synostosis; Craniosyostosis; Early fusion of cranial sutures; Premature closure of cranial sutures; Premature suture closure","HPO_Name__c":"Craniosynostosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1496","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any deviation from the normal pigmentation of the retina.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007703","HPO_Synonym__c":"Abnormality of retinal pigment epithelium; Abnormality of retinal pigmentation; Abnormality of RPE; Retinal pigmentary anomaly","HPO_Name__c":"Abnormal retinal pigmentation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1496","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Tall head relative to width and length.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000262","HPO_Synonym__c":"Tall shaped cranium; Tall shaped skull; Tower cranium shape; Tower skull shape; Turricephalus","HPO_Name__c":"Turricephaly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Neurodevelopmental disabilities","Neuromuscular medicine","Pediatrics"]},"synonyms":["accpn"," agenesis of corpus callosum with peripheral neuropathy"," agenesis of corpus callosum with polyneuropathy"," andermann syndrome"," charlevoix disease"," corpus callosum agenesis-neuronopathy syndrome"," hereditary motor and sensory neuropathy with agenesis of the corpus callosum"," hmsn/acc"," peripheral neuropathy associated with agenesis of the corpus callosum"," polyneuropathy, sensorimotor, with or without agenesis of the corpus callosum"]}