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Ontology Browser

Term:
Familial Amyloid Polyneuropathies (DOID:9001512)
Annotations: Rat: (19) Mouse: (19) Human: (21) Chinchilla: (19) Bonobo: (19) Dog: (19) Squirrel: (19) Pig: (19)
Parent Terms Term With Siblings Child Terms
Alexander Disease  
Amyloid Neuropathies, Primary (nonfamilial) 
Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation 
APP-related cerebral amyloid angiopathy  
Canavan disease  
Cerebrocortical Degeneration of Infancy 
childhood spinal muscular atrophy +   
Cockayne syndrome +   
Congenital Muscular Dystrophy with Severe Central Nervous System Atrophy and Absence of Large Myelinated Fibers 
CST3-related cerebral amyloid angiopathy +   
Cutaneous Bullous Amyloidosis 
Dystonia Musculorum Deformans +   
Familial Amyloid Polyneuropathies +   
Inherited disorders of the peripheral nervous system associated with the deposition of AMYLOID in nerve tissue. The different clinical types based on symptoms correspond to the presence of a variety of mutations in several different proteins including transthyretin (PREALBUMIN); APOLIPOPROTEIN A-I; and GELSOLIN.
familial encephalopathy with neuroserpin inclusion bodies  
familial visceral amyloidosis  
Gerstmann-Straussler-Scheinker syndrome  
Gilles de la Tourette syndrome +   
Hereditary Central Nervous System Demyelinating Diseases +   
Hereditary Optic Atrophies +   
hereditary sensory neuropathy +   
Huntington's disease +   
Huntington's disease-like 2  
Huntington's Disease-Like Syndrome  
Kennedy's disease  
Lafora disease  
Leukoencephalomyelopathy  
Lipodystrophy with Congenital Cataracts and Neurodegeneration  
Mental Retardation, X-Linked +   
mitochondrial DNA depletion syndrome 6  
motor peripheral neuropathy +   
myotonia congenita +   
myotonic dystrophy type 1 +   
neuroacanthocytosis +   
neurofibromatosis +   
neurogenic scapuloperoneal syndrome Kaeser type  
neuronal ceroid lipofuscinosis +   
Opticocochleodentate Degeneration 
pantothenate kinase-associated neurodegeneration +   
PCWH syndrome  
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, and Spongy Degeneration of Brain 
Premature Atherosclerosis with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease 
primary cerebellar degeneration +   
primary cutaneous amyloidosis +   
Progressive Psychomotor Deterioration  
spinal muscular atrophy with lower extremity predominance +   
Spongiform Encephalopathy with Neuropsychiatric Features  
syndromic microphthalmia 10 
tuberous sclerosis +   
Unverricht-Lundborg syndrome +   
Wilson disease +   
X-linked reticulate pigmentary disorder  

Synonyms
Exact Synonyms: Amyloid Neuropathy Type 1 ;   Appalachian Type Familial Amyloid Polyneuropathy ;   British Type Amyloid Polyneuropathy ;   Familial Amyloid Neuropathy ;   Familial Amyloid Neuropathy, Andrade Type ;   Familial Amyloid Polyneuropathies ;   Familial Amyloid Polyneuropathy ;   Familial Portuguese Polyneuritic Amyloidosis ;   Hereditary Neuropathic Amyloidoses ;   Hereditary Neuropathic Amyloidosis ;   Iowa Type Amyloid Polyneuropathy ;   Jewish Type Familial Amyloid Polyneuropathy ;   Neuropathic Amyloid Syndrome ;   Neuropathic Amyloid Syndromes ;   Portuguese Polyneuritic Amyloidoses ;   Portuguese Polyneuritic Amyloidosis ;   Portuguese Type Familial Amyloid Neuropathy ;   Swiss Type Amyloid Polyneuropathy ;   Type I Familial Amyloid Polyneuropathy ;   Type II Familial Amyloid Polyneuropathy ;   Type III Familial Amyloid Polyneuropathy ;   Type V Familial Amyloid Polyneuropathy ;   Type VI Familial Amyloid Polyneuropathy ;   Wohlwill Andrade Syndrome ;   Wohlwill Corino Andrade syndrome ;   familial amyloid neuropathies
Primary IDs: MESH:D028227
Alternate IDs: DOID:8943 ;   RDO:0002405

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.