MCID: APM002
MIFTS: 16

Aapoai Amyloidosis

Categories: Bone diseases, Genetic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Aapoai Amyloidosis

MalaCards integrated aliases for Aapoai Amyloidosis:

Name: Aapoai Amyloidosis 60
Hereditary Amyloid Nephropathy Due to Apolipoprotein a-I Variant 60
Familial Amyloid Nephropathy Due to Apolipoprotein a-I Variant 60
Hereditary Renal Amyloidosis Due to Apolipoprotein a-I Variant 60
Familial Renal Amyloidosis Due to Apolipoprotein a-I Variant 60
Apolipoprotein a-I Amyloidosis 60

Characteristics:

Orphanet epidemiological data:

60
aapoai amyloidosis
Inheritance: Autosomal dominant;

Classifications:



External Ids:

ICD10 via Orphanet 35 E85.0
Orphanet 60 ORPHA93560

Summaries for Aapoai Amyloidosis

MalaCards based summary : Aapoai Amyloidosis, also known as hereditary amyloid nephropathy due to apolipoprotein a-i variant, is related to amyloidosis and hypogonadism. An important gene associated with Aapoai Amyloidosis is APOA1 (Apolipoprotein A1). Affiliated tissues include bone and liver.

Related Diseases for Aapoai Amyloidosis

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

# Related Disease Score Top Affiliating Genes
1 amyloidosis 10.5
2 hypogonadism 10.0
3 infertility 10.0
4 hypogonadotropism 10.0

Symptoms & Phenotypes for Aapoai Amyloidosis

Drugs & Therapeutics for Aapoai Amyloidosis

Search Clinical Trials , NIH Clinical Center for Aapoai Amyloidosis

Genetic Tests for Aapoai Amyloidosis

Anatomical Context for Aapoai Amyloidosis

MalaCards organs/tissues related to Aapoai Amyloidosis:

42
Bone, Liver

Publications for Aapoai Amyloidosis

Articles related to Aapoai Amyloidosis:

(show all 11)
# Title Authors Year
1
A new genetic variant of hereditary apolipoprotein A-I amyloidosis: a case-report followed by discussion of diagnostic challenges and therapeutic options. ( 30665372 )
2019
2
Molecular Insights into Human Hereditary Apolipoprotein A-I Amyloidosis Caused by the Glu34Lys Mutation. ( 30184436 )
2018
3
A case report of hereditary apolipoprotein A-I amyloidosis associated with a novel APOA1 mutation and variable phenotype. ( 27240838 )
2016
4
Vascular alterations in apolipoprotein A-I amyloidosis (Leu75Pro). A case-control study. ( 26193960 )
2015
5
Tubulointerstitial nephritis is a dominant feature of hereditary apolipoprotein A-I amyloidosis. ( 25565309 )
2015
6
Clinical and pathologic characteristics of hereditary apolipoprotein A-I amyloidosis in Ireland. ( 23730806 )
2013
7
Spermatogenic and steroidogenic impairment of the testicle characterizes the hereditary leucine-75-proline apolipoprotein a-I amyloidosis. ( 18285420 )
2008
8
Infertility and hypergonadotropic hypogonadism as first evidence of hereditary apolipoprotein A-I amyloidosis. ( 17507040 )
2007
9
Renal apolipoprotein A-I amyloidosis: a rare and usually ignored cause of hereditary tubulointerstitial nephritis. ( 16221867 )
2005
10
Renal apolipoprotein A-I amyloidosis associated with a novel mutant Leu64Pro. ( 15558533 )
2004
11
Livers from patients with apolipoprotein A-I amyloidosis are not suitable as "domino" donors. ( 11406659 )
2001

Variations for Aapoai Amyloidosis

Expression for Aapoai Amyloidosis

Search GEO for disease gene expression data for Aapoai Amyloidosis.

Pathways for Aapoai Amyloidosis

GO Terms for Aapoai Amyloidosis

Sources for Aapoai Amyloidosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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