MCID: HRD039
MIFTS: 46

Hereditary Amyloidosis malady

Categories: Rare diseases, Genetic diseases, Neuronal diseases, Bone diseases, Metabolic diseases, Cardiovascular diseases, Nephrological diseases, Immune diseases, Blood diseases

Aliases & Classifications for Hereditary Amyloidosis

Aliases & Descriptions for Hereditary Amyloidosis:

Name: Hereditary Amyloidosis 50
Amyloidosis Hereditary 50 29 52
Amyloidosis, Hereditary 69
Amyloidosis, Familial 69
Familial Amyloidosis 50
Amyloidosis Familial 52

Classifications:



Summaries for Hereditary Amyloidosis

NIH Rare Diseases : 50 hereditary amyloidosis refers to a group of inherited conditions that make up one of the subtypes of amyloidosis. hereditary amyloidosis is 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 examples of 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.  last updated: 7/19/2016

MalaCards based summary : Hereditary Amyloidosis, also known as amyloidosis hereditary, is related to familial amyloidosis, finnish type and amyloidosis, hereditary, transthyretin-related. An important gene associated with Hereditary Amyloidosis is TTR (Transthyretin), and among its related pathways/superpathways are Metabolism of proteins and Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3. The drugs Colchicine and Diflunisal have been mentioned in the context of this disorder. Affiliated tissues include liver, heart and kidney, and related phenotypes are cardiovascular system and homeostasis/metabolism

Wikipedia : 71 Amyloids are aggregates of proteins that become folded into a shape that allows many copies of that... more...

Related Diseases for Hereditary Amyloidosis

Diseases in the Amyloidosis family:

Amyloidosis, Hereditary, Transthyretin-Related Al Amyloidosis
Amyloidosis Aa Hereditary Amyloidosis
Primary Localized Amyloidosis Ah Amyloidosis

Diseases related to Hereditary Amyloidosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 44)
id Related Disease Score Top Affiliating Genes
1 familial amyloidosis, finnish type 12.1
2 amyloidosis, hereditary, transthyretin-related 11.6
3 amyloidosis, familial visceral 10.9
4 amyloidosis, finnish type 10.8
5 amyloidosis 10.4
6 arthrogryposis, lethal, with anterior horn cell disease 10.2 GSN TTR
7 cellulitis 10.2 GSN TTR
8 penis agenesis 10.2 GSN TTR
9 familial progressive cardiac conduction defect 10.1 APOA1 APOA2
10 tyrosinemia, type ii 10.1 APOA1 APOA2
11 albinism, oculocutaneous, type v 10.1 APOA1 APOA2
12 focal epithelial hyperplasia 10.1 APOA1 TTR
13 bird fancier's lung 10.1 APOA1 APOA2
14 anaplastic ependymoma 10.1 APOA1 GSN TTR
15 alopecia-mental retardation syndrome 3 10.1 APOA1 GSN TTR
16 stone in bladder diverticulum 10.1 APOA1 APOA2
17 polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract 10.0 GSN TTR
18 bacteriuria 10.0 B2M TTR
19 von willebrand disease, platelet-type 10.0 APOA1 APOA2
20 denture stomatitis 10.0 B2M TTR
21 tibial nerve palsy 10.0 B2M TTR
22 childhood vagina botryoid rhabdomyosarcoma 10.0 B2M TTR
23 pancreatic vasoactive intestinal peptide producing tumor 10.0 B2M TTR
24 hypotrichosis 6 10.0 B2M TTR
25 bleeding disorder, east texas type 10.0 APOA1 APOA2
26 hypertriglyceridemia 10.0 APOA1 APOA2
27 cranio-facial dystonia 10.0 B2M FGA
28 bubonic plague 9.9 B2M LYZ
29 angiokeratoma 9.9 B2M LYZ
30 anaplastic ganglioglioma 9.9 APOA1 B2M TTR
31 cardiomyopathy 9.9
32 hemorrhoid 9.9 B2M LYZ
33 neuropathy, hereditary sensory and autonomic, type ia 9.9 APOA1 APOA2
34 glycogen storage disease viii 9.9 B2M LYZ
35 choriodal dystrophy, central areolar 2 9.8 B2M LYZ TTR
36 polyneuropathy 9.8
37 arthritis 9.5
38 hepatitis 9.5
39 retinitis 9.5
40 neuropathy 9.5
41 al amyloidosis 9.5
42 van maldergem syndrome 2 9.1 APOA1 APOA2 B2M FGA GSN LYZ
43 hard palate cancer 8.9 APOA1 APOA2 B2M FGA FURIN GSN
44 hereditary lymphedema type ii 8.9 APOA1 APOA2 B2M FGA FURIN GSN

Graphical network of the top 20 diseases related to Hereditary Amyloidosis:



Diseases related to Hereditary Amyloidosis

Symptoms & Phenotypes for Hereditary Amyloidosis

MGI Mouse Phenotypes related to Hereditary Amyloidosis:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.8 APOA1 B2M FGA FURIN GSN LYZ
2 homeostasis/metabolism MP:0005376 9.7 APOA1 APOA2 B2M FGA GSN LYZ
3 endocrine/exocrine gland MP:0005379 9.65 APOA1 B2M FGA GSN LYZ
4 integument MP:0010771 9.43 APOA1 B2M FGA FURIN GSN LYZ
5 liver/biliary system MP:0005370 9.02 APOA1 B2M FGA FURIN LYZ

Drugs & Therapeutics for Hereditary Amyloidosis

Drugs for Hereditary Amyloidosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 32)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Colchicine Approved Phase 3,Phase 2,Phase 1 64-86-8 6167 2833
2
Diflunisal Approved Phase 2, Phase 3 22494-42-4 3059
3 Antimitotic Agents Phase 3,Phase 2,Phase 1
4 Antirheumatic Agents Phase 2, Phase 3, Phase 1
5 Analgesics Phase 2, Phase 3
6 Cyclooxygenase Inhibitors Phase 2, Phase 3
7 Analgesics, Non-Narcotic Phase 2, Phase 3
8 Vaccines Phase 3
9 Peripheral Nervous System Agents Phase 2, Phase 3
10 Immunoglobulins Phase 3,Phase 2,Phase 1
11 Antibodies, Monoclonal Phase 3,Phase 2,Phase 1
12 Anti-Inflammatory Agents Phase 2, Phase 3
13 Interleukin 1 Receptor Antagonist Protein Phase 3,Phase 1,Phase 2
14 Anti-Inflammatory Agents, Non-Steroidal Phase 2, Phase 3
15 Antibodies Phase 3,Phase 2,Phase 1
16 Pharmaceutical Solutions Phase 3
17
Doxycycline Approved, Investigational, Vet_approved Phase 2,Phase 1 564-25-0 54671203
18
Tauroursodeoxycholic acid Approved, Investigational Phase 1, Phase 2 14605-22-2 12443252
19 Anti-Bacterial Agents Phase 2,Phase 1
20 Anti-Infective Agents Phase 2,Phase 1
21 Antimalarials Phase 2,Phase 1
22 Antiparasitic Agents Phase 2,Phase 1
23 Antiprotozoal Agents Phase 2,Phase 1
24 Cholagogues and Choleretics Phase 1, Phase 2
25 Gastrointestinal Agents Phase 1, Phase 2
26 Taurochenodeoxycholic Acid Phase 1, Phase 2
27 Antiviral Agents Phase 1, Phase 2
28 Acidophilus Nutraceutical Phase 2
29 Bifidobacterium Nutraceutical Phase 2
30
Iron Approved 7439-89-6 23925
31
Menthol Approved 2216-51-5 16666
32 Liver Extracts

Interventional clinical trials:

(show all 38)
id Name Status NCT ID Phase
1 The Effect of Diflunisal on Familial Amyloidosis Completed NCT00294671 Phase 2, Phase 3
2 Safety and Efficacy Study of Fx-1006A in Patients With Familial Amyloidosis Completed NCT00409175 Phase 2, Phase 3
3 An Extension of Study Fx-005 Evaluating Long-Term Safety And Clinical Outcomes Of Fx-1006A In Patients With Transthyretin Amyloid Polyneuropathy Completed NCT00791492 Phase 2, Phase 3
4 ENDEAVOUR: Phase 3 Multicenter Study of Revusiran (ALN-TTRSC) in Patients With Transthyretin (TTR) Mediated Familial Amyloidotic Cardiomyopathy (FAC) Completed NCT02319005 Phase 3
5 Kineret (Anakinra), in Adult Patients With Colchicine-Resistant Familial Mediterranean Fever Completed NCT01705756 Phase 3
6 The Safety and Efficacy of Canakinumab in Patients Aged 4 Years or Older Diagnosed With Cryopyrin-associated Periodic Syndromes (CAPS) in Canada Completed NCT01105507 Phase 3
7 Efficacy, Safety and Tolerability of ACZ885 in Pediatric Patients With the Following Cryopyrin-associated Periodic Syndromes: Familial Cold Autoinflammatory Syndrome, Muckle-Wells Syndrome, or Neonatal Onset Multisystem Inflammatory Disease Completed NCT01576367 Phase 3
8 An Extention Study of Safety of Canakinumab in Japanese Patients With Periodic Fever Syndromes Completed NCT02911857 Phase 3
9 Efficacy, Safety and Tolerability of ACZ885 in Pediatric Patients With the Following Cryopyrin-associated Periodic Syndromes: Familial Cold Autoinflammatory Syndrome, Muckle-Wells Syndrome, or Neonatal Onset Multisystem Inflammatory Disease Completed NCT01302860 Phase 3
10 Efficacy, Safety, and Tolerability of ACZ885 in Patients With Muckle-Wells Syndrome Completed NCT00465985 Phase 3
11 Rilonacept for Treatment of Cryopyrin-Associated Periodic Syndromes (CAPS) Completed NCT00288704 Phase 3
12 A Study of Canakinumab in Patients With Systemic Juvenile Idiopathic Arthritis or Hereditary Periodic Fevers Who Participated in the CACZ885G2301E1, CACZ885G2306 or CACZ885N2301 Studies Recruiting NCT02334748 Phase 3
13 Study of Efficacy and Safety of Canakinumab in Patients With Hereditary Periodic Fevers Active, not recruiting NCT02059291 Phase 3
14 APOLLO: The Study of an Investigational Drug, Patisiran (ALN-TTR02), for the Treatment of Transthyretin (TTR)-Mediated Amyloidosis Active, not recruiting NCT01960348 Phase 3
15 Dominantly Inherited Alzheimer Network Trial: An Opportunity to Prevent Dementia. A Study of Potential Disease Modifying Treatments in Individuals at Risk for or With a Type of Early Onset Alzheimer's Disease Caused by a Genetic Mutation. Active, not recruiting NCT01760005 Phase 2, Phase 3
16 Controlled Ceasing of Colchicine Therapy in Familial Mediterranean Fever (FMF) Patients With Single MEFV (Mediterranean Fever) Gene Mutation Unknown status NCT02175589 Phase 2
17 Safety and Effect of Doxycycline in Patients With Amyloidosis Completed NCT01677286 Phase 2
18 Efficacy and Safety Study of ACZ885 in Patients With Active Recurrent or Chronic TNF-receptor Associated Periodic Syndrome (TRAPS). Completed NCT01242813 Phase 2
19 Interleukin-1 Trap to Treat Autoinflammatory Diseases Completed NCT00094900 Phase 2
20 Rilonacept for Treatment of Familial Mediterranean Fever (FMF) Completed NCT00582907 Phase 2
21 F 18 T807 Tau PET Imaging in Dominantly Inherited Alzheimer's Network (DIAN Project) Recruiting NCT02414178 Phase 2
22 Tolerability and Efficacy of a Combination of Doxycycline and TUDCA in Patients With Transthyretin Amyloid Cardiomyopathy Active, not recruiting NCT01855360 Phase 1, Phase 2
23 Probiotics and Corticosteroids for Treating Periodic Fever, Aphthous Stomatitis, Pharyngitis, Cervical Adenitis (PFAPA) Not yet recruiting NCT02535962 Phase 2
24 Anakinra to Treat Patients With Neonatal Onset Multisystem Inflammatory Disease Terminated NCT00069329 Phase 1, Phase 2
25 Pharmacokinetics Study of Colchicine in Familial Mediterranean Fever (FMF) Patients Completed NCT01075906 Phase 1
26 The Use of Kineret (Anakinra) in the Treatment of Familial Cold Urticaria Completed NCT00214851 Phase 1
27 A Safety and Tolerability Study of an Investigational Drug, ALN-TTRSC02, in Healthy Subjects Active, not recruiting NCT02797847 Phase 1
28 Ilaris (Canakinumab) in Patient With Periodic Fever, Aphthous Stomatitis, Pharyngitis and Cervical Adenitis (PFAPA) Not yet recruiting NCT02775994 Phase 1
29 Study of Systemic Amyloidosis Presentation and Prognosis Unknown status NCT00004374
30 Prevalence of Transthyretin Amyloidosis in Hypertrophic Cardiomyopathy Unknown status NCT01623245
31 Burden of Disease Study In Patients With Transthyretin Familial Amyloidosis Polyneuropathy (TTR-FAP) orTransthyretin Cardiomyopathy (TTR-CM) And Caregivers Completed NCT01604122
32 Clinical Outcomes and Safety: A Registry Study of Ilaris (Canakinumab) Patients Completed NCT01213641
33 Transthyretin-Associated Amyloidoses Outcome Survey (THAOS) Recruiting NCT00628745
34 Dominantly Inherited Alzheimer Network (DIAN) Recruiting NCT00869817
35 Physiologic Assessment of Microvascular Function in Patients With Cardiac Amyloidosis Recruiting NCT02798705
36 German Centre for Cardiovascular Research Cardiomyopathy Register Recruiting NCT02187263
37 Utility of Fibroscan in Estimating Hepatic Iron Concentration Active, not recruiting NCT02067130
38 Expanded Access Protocol of Patisiran for Patients With Hereditary ATTR Amyloidosis (hATTR) Available NCT02939820

Search NIH Clinical Center for Hereditary Amyloidosis

Genetic Tests for Hereditary Amyloidosis

Genetic tests related to Hereditary Amyloidosis:

id Genetic test Affiliating Genes
1 Amyloidosis Hereditary 29

Anatomical Context for Hereditary Amyloidosis

MalaCards organs/tissues related to Hereditary Amyloidosis:

39
Liver, Heart, Kidney, Lung, Testes

Publications for Hereditary Amyloidosis

Articles related to Hereditary Amyloidosis:

(show top 50) (show all 64)
id Title Authors Year
1
Hereditary Amyloidosis with Recurrent Lung Infiltrates. ( 27872470 )
2016
2
Hereditary amyloidosis with cardiomyopathy caused by the novel variant transthyretin A36D. ( 27646980 )
2016
3
Protein conformational perturbations in hereditary amyloidosis: Differential impact of single point mutations in ApoAI amyloidogenic variants. ( 26515634 )
2015
4
An overview of drugs currently under investigation for the treatment of transthyretin-related hereditary amyloidosis. ( 25003808 )
2014
5
Online registry for mutations in hereditary amyloidosis including nomenclature recommendations. ( 25044787 )
2014
6
Modified body mass index and time interval between diagnosis and operation affect survival after liver transplantation for hereditary amyloidosis: a single-center analysis. ( 23909501 )
2013
7
Incidence of hereditary amyloidosis and autoinflammatory diseases in Sweden: endemic and imported diseases. ( 24138840 )
2013
8
Guideline of transthyretin-related hereditary amyloidosis for clinicians. ( 23425518 )
2013
9
Unexplained cardiac failure leading to the identification of a Belgian family affected by hereditary amyloidosis. ( 24455802 )
2013
10
Hereditary amyloidosis caused by R554L fibrinogen AI+-chain mutation in a Spanish family and review of the literature. ( 23551149 )
2013
11
Genotypic and phenotypic correlation in an Italian population of hereditary amyloidosis TTR-related (HA-TTR): clinical and neurophysiological aids to diagnosis and some reflections on misdiagnosis. ( 22620967 )
2012
12
Solid organ transplantation for non-TTR hereditary amyloidosis: report from the 1st International Workshop on the Hereditary Renal Amyloidoses. ( 22540225 )
2012
13
Incidence and survival in non-hereditary amyloidosis in Sweden. ( 23148499 )
2012
14
Transthyretin-related hereditary amyloidosis in a Chinese family with TTR Y114C mutation. ( 21135536 )
2011
15
Hereditary amyloidosis of the Finnish type in a German family: clinical and electrophysiological presentation. ( 20229579 )
2010
16
Hereditary amyloidosis with progressive peripheral neuropathy associated with apolipoprotein AI Gly26Arg: outcome of hepatorenal transplantation. ( 17600344 )
2007
17
Successful hepatorenal transplantation in hereditary amyloidosis caused by a frame-shift mutation in fibrinogen Aalpha-chain gene. ( 16468976 )
2006
18
Early onset aggressive hereditary amyloidosis: report of an Italian family with TTR Arg47 mutation. ( 15995833 )
2005
19
Hereditary amyloidosis in early childhood associated with a novel insertion-deletion (indel) in the fibrinogen Aalpha chain gene. ( 16221199 )
2005
20
Liver biopsy discloses a new apolipoprotein A-I hereditary amyloidosis in several unrelated Italian families. ( 15131802 )
2004
21
End-stage renal disease and dialysis in hereditary amyloidosis TTR V30M: presentation, survival and prognostic factors. ( 15185496 )
2004
22
Hereditary amyloidosis. ( 12374886 )
2002
23
Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis. ( 12050338 )
2002
24
Hereditary amyloidosis. ( 12375595 )
2002
25
A new human hereditary amyloidosis: the result of a stop-codon mutation in the apolipoprotein AII gene. ( 11401442 )
2001
26
Mutation and transcription analysis of transthyretin gene in Italian families with hereditary amyloidosis: a putative novel hot spot' in codon 47. ( 10845569 )
2000
27
Hereditary amyloidosis: some words on the history and present status of our eminent subject. ( 10842698 )
2000
28
A case of hereditary amyloidosis transthyretin variant Met 30 with amyloid cardiomyopathy, less polyneuropathy, and the presence of giant cells. ( 10571824 )
1999
29
Bilateral multifocal retinal arteriolar sheathing as the only ocular finding in hereditary amyloidosis. ( 9437328 )
1998
30
Novel transthyretin missense mutation (Thr34) in an Italian family with hereditary amyloidosis. ( 9605286 )
1998
31
[Hereditary amyloidosis]. ( 9453203 )
1997
32
'Fragile' liver and massive hepatic haemorrhage due to hereditary amyloidosis. ( 8566845 )
1996
33
A new apolipoprotein Al variant, Trp50Arg, causes hereditary amyloidosis. ( 7493166 )
1995
34
A new mutation (TTR Ala-47) in the transthyretin gene associated with hereditary amyloidosis. ( 7951260 )
1994
35
Prenatal diagnosis of hereditary amyloidosis in a Portuguese family living in France. ( 8110416 )
1993
36
Transthyretin-related TTR hereditary amyloidosis of the vitreous body. Clinical and molecular characterization in two Italian families. ( 8345958 )
1993
37
Two transthyretin variants (TTR Ala-49 and TTR Gln-89) in two Sicilian kindreds with hereditary amyloidosis. ( 1301926 )
1992
38
Amyloid cardiomyopathy in systemic non-hereditary amyloidosis. Clinical, echocardiographic and electrocardiographic findings in 30 patients with AA and 24 patients with AL amyloidosis. ( 1618203 )
1992
39
Hereditary amyloidosis and cardiomyopathy. ( 1626556 )
1992
40
Molecular strategies in genetic diagnosis of transthyretin-related hereditary amyloidosis. ( 1353040 )
1992
41
Immunohistochemical localization of amyloid in Finnish hereditary amyloidosis with antibodies to gelsolin peptides. ( 1848334 )
1991
42
Gelsolin-related amyloidosis. Identification of the amyloid protein in Finnish hereditary amyloidosis as a fragment of variant gelsolin. ( 1849145 )
1991
43
Prenatal diagnosis of hereditary amyloidosis in a Portuguese family. ( 1867256 )
1991
44
Finnish hereditary amyloidosis is caused by a single nucleotide substitution in the gelsolin gene. ( 2176164 )
1990
45
Mutation in gelsolin gene in Finnish hereditary amyloidosis. ( 2175344 )
1990
46
Hereditary amyloidosis: detection of variant prealbumin genes by restriction enzyme analysis of amplified genomic DNA sequences. ( 2154345 )
1990
47
Finnish hereditary amyloidosis. Amino acid sequence homology between the amyloid fibril protein and human plasma gelsoline. ( 2153578 )
1990
48
Hereditary amyloidosis: evidence against early amyloid deposition. ( 2510740 )
1989
49
Prenatal detection of a gene for hereditary amyloidosis. ( 2516414 )
1989
50
Hereditary amyloidosis--disease entity and clinical model. ( 3126202 )
1988

Variations for Hereditary Amyloidosis

Expression for Hereditary Amyloidosis

Search GEO for disease gene expression data for Hereditary Amyloidosis.

Pathways for Hereditary Amyloidosis

Pathways related to Hereditary Amyloidosis according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.93 APOA1 B2M FGA FURIN GSN LYZ
2
Show member pathways
12.58 APOA1 B2M FGA FURIN GSN LYZ
3
Show member pathways
12.12 APOA1 APOA2 FURIN
4
Show member pathways
11.83 APOA1 APOA2 TTR
5 11.31 APOA1 APOA2
6
Show member pathways
11.27 APOA1 APOA2
7 11.01 APOA1 TTR
8 10.67 APOA1 APOA2
9 10.43 APOA1 APOA2

GO Terms for Hereditary Amyloidosis

Cellular components related to Hereditary Amyloidosis according to GeneCards Suite gene sharing:

(show all 13)
id Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.76 APOA1 APOA2 B2M FGA FURIN GSN
2 cell surface GO:0009986 9.73 APOA1 B2M FGA FURIN
3 endoplasmic reticulum lumen GO:0005788 9.62 APOA1 APOA2 B2M FGA
4 blood microparticle GO:0072562 9.56 APOA1 APOA2 FGA GSN
5 extracellular region GO:0005576 9.56 APOA1 APOA2 B2M FGA FURIN GSN
6 specific granule lumen GO:0035580 9.52 B2M LYZ
7 tertiary granule lumen GO:1904724 9.51 B2M LYZ
8 extracellular vesicle GO:1903561 9.49 APOA1 FGA
9 high-density lipoprotein particle GO:0034364 9.48 APOA1 APOA2
10 very-low-density lipoprotein particle GO:0034361 9.46 APOA1 APOA2
11 chylomicron GO:0042627 9.4 APOA1 APOA2
12 spherical high-density lipoprotein particle GO:0034366 9.37 APOA1 APOA2
13 extracellular space GO:0005615 9.23 APOA1 APOA2 B2M FGA FURIN GSN

Biological processes related to Hereditary Amyloidosis according to GeneCards Suite gene sharing:

(show all 30)
id Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.87 B2M GSN LYZ TTR
2 post-translational protein modification GO:0043687 9.81 APOA1 APOA2 FGA
3 response to drug GO:0042493 9.81 APOA1 APOA2 B2M
4 extracellular matrix organization GO:0030198 9.78 FGA FURIN TTR
5 response to estrogen GO:0043627 9.65 APOA1 APOA2
6 cholesterol homeostasis GO:0042632 9.64 APOA1 APOA2
7 animal organ regeneration GO:0031100 9.63 APOA1 APOA2
8 retina homeostasis GO:0001895 9.62 B2M LYZ
9 phosphatidylcholine biosynthetic process GO:0006656 9.62 APOA1 APOA2
10 positive regulation of substrate adhesion-dependent cell spreading GO:1900026 9.61 APOA1 FGA
11 cholesterol efflux GO:0033344 9.6 APOA1 APOA2
12 cholesterol transport GO:0030301 9.59 APOA1 APOA2
13 reverse cholesterol transport GO:0043691 9.58 APOA1 APOA2
14 high-density lipoprotein particle remodeling GO:0034375 9.58 APOA1 APOA2
15 high-density lipoprotein particle assembly GO:0034380 9.56 APOA1 APOA2
16 phospholipid efflux GO:0033700 9.55 APOA1 APOA2
17 lipoprotein biosynthetic process GO:0042158 9.54 APOA1 APOA2
18 retinoid metabolic process GO:0001523 9.54 APOA1 APOA2 TTR
19 chylomicron assembly GO:0034378 9.52 APOA1 APOA2
20 positive regulation of cholesterol esterification GO:0010873 9.51 APOA1 APOA2
21 chylomicron remodeling GO:0034371 9.49 APOA1 APOA2
22 high-density lipoprotein particle clearance GO:0034384 9.48 APOA1 APOA2
23 negative regulation of cytokine secretion involved in immune response GO:0002740 9.46 APOA1 APOA2
24 peptidyl-methionine modification GO:0018206 9.43 APOA1 APOA2
25 lipoprotein metabolic process GO:0042157 9.43 APOA1 APOA2 FURIN
26 regulation of intestinal cholesterol absorption GO:0030300 9.4 APOA1 APOA2
27 negative regulation of lipase activity GO:0060192 9.32 APOA1 APOA2
28 cellular protein metabolic process GO:0044267 9.23 APOA1 APOA2 B2M FGA FURIN GSN
29 protein oxidation GO:0018158 9.16 APOA1 APOA2
30 negative regulation of very-low-density lipoprotein particle remodeling GO:0010903 8.96 APOA1 APOA2

Molecular functions related to Hereditary Amyloidosis according to GeneCards Suite gene sharing:

(show all 11)
id Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.76 APOA1 B2M LYZ TTR
2 heat shock protein binding GO:0031072 9.49 APOA1 APOA2
3 cholesterol binding GO:0015485 9.48 APOA1 APOA2
4 lipid transporter activity GO:0005319 9.43 APOA1 APOA2
5 phosphatidylcholine binding GO:0031210 9.4 APOA1 APOA2
6 cholesterol transporter activity GO:0017127 9.37 APOA1 APOA2
7 high-density lipoprotein particle binding GO:0008035 9.32 APOA1 APOA2
8 lipase inhibitor activity GO:0055102 9.26 APOA1 APOA2
9 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.16 APOA1 APOA2
10 apolipoprotein receptor binding GO:0034190 8.96 APOA1 APOA2
11 high-density lipoprotein particle receptor binding GO:0070653 8.62 APOA1 APOA2

Sources for Hereditary Amyloidosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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