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Experimental Factor Ontology
| Preferred Name | hereditary amyloidosis | |
| Synonyms |
amyloidosis hereditary familial amyloidosis amyloidosis, Familial hereditary amyloidosis (disease) |
|
| 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. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0018634 |
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| database_cross_reference |
MEDGEN:148146 Orphanet:444116 UMLS:C0740340 NCIT:C84555 SCTID:367601000119103 icd11.foundation:1152878652 MESH:D028226 GARD:6611
|
|
| 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.
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| exactMatch |
http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1152878652 http://identifiers.org/mesh/D028226 http://linkedlifedata.com/resource/umls/id/C0740340 http://identifiers.org/snomedct/367601000119103 http://purl.obolibrary.org/obo/NCIT_C84555 |
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| has_exact_synonym |
amyloidosis, Familial hereditary amyloidosis (disease)
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| has_related_synonym |
amyloidosis hereditary familial amyloidosis
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|
| id |
MONDO:0018634
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| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_group_of_disorders http://purl.obolibrary.org/obo/mondo/mondo-base#disease_grouping |
|
| label |
hereditary amyloidosis
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|
| notation |
MONDO:0018634
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|
| preferred label |
hereditary amyloidosis
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|
| prefLabel |
hereditary amyloidosis
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| see also |
https://rarediseases.info.nih.gov/diseases/6611/hereditary-amyloidosis |
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| subClassOf |
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