Amyloidosis, Hereditary, Transthyretin-Related malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Bone diseases, Metabolic diseases, Cardiovascular diseases, Nephrological diseases, Immune diseases, Blood diseases
Aliases & Descriptions for Amyloidosis, Hereditary, Transthyretin-Related:
Orphanet epidemiological data:53
transthyretin amyloid polyneuropathy:
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Japan),1-9/100000 (Spain); Age of onset: Adult; Age of death: adult
transthyretin-related familial amyloid cardiomyopathy:
Inheritance: Autosomal dominant; Age of onset: Adult; Age of death: elderly
Penetrance: because the penetrance for familial ttr amyloidosis is not 100%, an individual with a ttr pathogenic variant may be symptom free until late adulthood. the penetrance may vary by variant, geographic region, or ethnic group...
Global: Genetic diseases, Rare diseases, Metabolic diseases
Anatomical: Neuronal diseases, Bone diseases, Cardiovascular diseases, Nephrological diseases, Immune diseases, Blood diseases
OMIM:51 Hereditary amyloidoses are a clinically and genetically heterogeneous group of autosomal dominantly inherited diseases... (105210) more...
MalaCards based summary: Amyloidosis, Hereditary, Transthyretin-Related, also known as transthyretin amyloidosis, is related to familial oculoleptomeningeal amyloidosis and leptomeningeal amyloidosis, and has symptoms including urinary incontinence, hearing impairment and visual impairment. An important gene associated with Amyloidosis, Hereditary, Transthyretin-Related is TTR (Transthyretin), and among its related pathways are FOXA2 and FOXA3 transcription factor networks and Ca, cAMP and Lipid Signaling. Affiliated tissues include heart, kidney and eye.
Disease Ontology:11 An amyloidosis that is characterized by a loss of sensation in the extremities, cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis resulting from abnormal deposits of amyloid protein in the body's organs and tissues and has material basis in autosomal dominant inheritance of mutations in the TTR gene.
UniProtKB/Swiss-Prot:69 Amyloidosis, transthyretin-related: A hereditary generalized amyloidosis due to transthyretin amyloid deposition. Protein fibrils can form in different tissues leading to amyloid polyneuropathies, amyloidotic cardiomyopathy, carpal tunnel syndrome, systemic senile amyloidosis. The disease includes leptomeningeal amyloidosis that is characterized by primary involvement of the central nervous system. Neuropathologic examination shows amyloid in the walls of leptomeningeal vessels, in pia arachnoid, and subpial deposits. Some patients also develop vitreous amyloid deposition that leads to visual impairment (oculoleptomeningeal amyloidosis). Clinical features include seizures, stroke-like episodes, dementia, psychomotor deterioration, variable amyloid deposition in the vitreous humor.
Genetics Home Reference:25 Transthyretin amyloidosis is a slowly progressive condition characterized by the buildup of abnormal deposits of a protein called amyloid (amyloidosis) in the body's organs and tissues. These protein deposits most frequently occur in the peripheral nervous system, which is made up of nerves connecting the brain and spinal cord to muscles and sensory cells that detect sensations such as touch, pain, heat, and sound. Protein deposits in these nerves result in a loss of sensation in the extremities (peripheral neuropathy). The autonomic nervous system, which controls involuntary body functions such as blood pressure, heart rate, and digestion, may also be affected by amyloidosis. In some cases, the brain and spinal cord (central nervous system) are affected. Other areas of amyloidosis include the heart, kidneys, eyes, and gastrointestinal tract. The age at which symptoms begin to develop varies widely among individuals with this condition, and is typically between ages 20 and 70.
Wikipedia:70 Familial amyloid polyneuropathy (FAP), also called transthyretin-related hereditary amyloidosis,... more...
GeneReviews for NBK1194
Human phenotypes related to Amyloidosis, Hereditary, Transthyretin-Related:63 (show all 28)
UMLS symptoms related to Amyloidosis, Hereditary, Transthyretin-Related:hyperexplexia, neuralgia, cardiac dyskinesia, ataxia, constipation, diarrhea, headache, muscle spasticity, seizures, tremor
Drugs for Amyloidosis, Hereditary, Transthyretin-Related (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 35)
Interventional clinical trials:(show all 32)
Search NIH Clinical Center for Amyloidosis, Hereditary, Transthyretin-Related
MalaCards organs/tissues related to Amyloidosis, Hereditary, Transthyretin-Related:35
Heart, Kidney, Eye, Spinal cord, Brain, Liver, Bone
UniProtKB/Swiss-Prot genetic disease variations for Amyloidosis, Hereditary, Transthyretin-Related:69 (show all 73)
Clinvar genetic disease variations for Amyloidosis, Hereditary, Transthyretin-Related:5 (show all 41)
Search GEO for disease gene expression data for Amyloidosis, Hereditary, Transthyretin-Related.
Cellular components related to Amyloidosis, Hereditary, Transthyretin-Related according to GeneCards Suite gene sharing:
Biological processes related to Amyloidosis, Hereditary, Transthyretin-Related according to GeneCards Suite gene sharing:
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet