Link to this page
Kidney Tissue Atlas Ontology
| Preferred Name | hereditary amyloidosis | |
| Synonyms |
amyloidosis hereditary familial amyloidosis hereditary amyloidosis (disease) amyloidosis, Familial |
|
| Definitions |
Hereditary amyloidosis refers to a group of inherited conditions that make up one of the subtypes of amyloidosis. Hereditary amyloidosisis characterized by the deposit of an abnormal protein called amyloid in multiple organs of the body where it should not be, which causes disruption of organ tissue structure and function. In hereditary amyloidosis, amyloid deposits most often occur in tissues of the heart, kidneys, and nervous system. While symptoms of hereditary amyloidosis may appear in childhood, most individuals do not experience symptoms until adulthood. There are many types of hereditary amyloidosis associated with different gene mutations and abnormal proteins. The most common type of hereditary amyloidosis is transthyretin amyloidosis (ATTR),a condition in which the amyloid deposits are most often made up of the transthyretin protein which is made in the liver. Other examplesof hereditary amyloidosis include, but are not limited to, apolipoprotein AI amyloidosis (A ApoAI), gelsolin amyloidosis (A Gel), lysozyme amyloidosis (A Lys), cystatin C amyloidosis (A Cys), fibrinogen Aα-chain amyloidosis (A Fib), and apolipoprotein AII amyloidosis (A ApoAII). Most types of hereditary amyloidosis are inherited in an autosomal dominant manner. Treatment is focused on addressing symptoms of organ damage and slowing down the production of amyloid when possible through methods such as liver transplants. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0018634 |
|
| conformsTo |
http://purl.obolibrary.org/obo/mondo/patterns/hereditary.yaml |
|
| database_cross_reference |
UMLS:C0206246 GARD:0006611 Orphanet:444116 SCTID:367601000119103 NCIT:C84555 MESH:D028226
|
|
| exactMatch |
http://identifiers.org/mesh/D028226 http://linkedlifedata.com/resource/umls/id/C0206246 http://identifiers.org/snomedct/367601000119103 |
|
| has exact synonym |
hereditary amyloidosis (disease) amyloidosis, Familial
|
|
| has related synonym |
amyloidosis hereditary familial amyloidosis
|
|
| id |
MONDO:0018634
|
|
| imported from | ||
| in_subset |
http://purl.oboInOwllibrary.org/oboInOwl/mondo#gard_rare http://purl.oboInOwllibrary.org/oboInOwl/mondo#ordo_group_of_disorders |
|
| label |
hereditary amyloidosis
|
|
| notation |
MONDO:0018634
|
|
| prefLabel |
hereditary amyloidosis
|
|
| see also |
https://rarediseases.info.nih.gov/diseases/6611/hereditary-amyloidosis |
|
| textual definition |
Hereditary amyloidosis refers to a group of inherited conditions that make up one of the subtypes of amyloidosis. Hereditary amyloidosisis characterized by the deposit of an abnormal protein called amyloid in multiple organs of the body where it should not be, which causes disruption of organ tissue structure and function. In hereditary amyloidosis, amyloid deposits most often occur in tissues of the heart, kidneys, and nervous system. While symptoms of hereditary amyloidosis may appear in childhood, most individuals do not experience symptoms until adulthood. There are many types of hereditary amyloidosis associated with different gene mutations and abnormal proteins. The most common type of hereditary amyloidosis is transthyretin amyloidosis (ATTR),a condition in which the amyloid deposits are most often made up of the transthyretin protein which is made in the liver. Other examplesof hereditary amyloidosis include, but are not limited to, apolipoprotein AI amyloidosis (A ApoAI), gelsolin amyloidosis (A Gel), lysozyme amyloidosis (A Lys), cystatin C amyloidosis (A Cys), fibrinogen Aα-chain amyloidosis (A Fib), and apolipoprotein AII amyloidosis (A ApoAII). Most types of hereditary amyloidosis are inherited in an autosomal dominant manner. Treatment is focused on addressing symptoms of organ damage and slowing down the production of amyloid when possible through methods such as liver transplants.
|
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0019065 |
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |