MCID: APM002
MIFTS: 15

Aapoai Amyloidosis

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

Aliases & Classifications for Aapoai Amyloidosis

MalaCards integrated aliases for Aapoai Amyloidosis:

Name: Aapoai Amyloidosis 59
Hereditary Amyloid Nephropathy Due to Apolipoprotein a-I Variant 59
Familial Amyloid Nephropathy Due to Apolipoprotein a-I Variant 59
Hereditary Renal Amyloidosis Due to Apolipoprotein a-I Variant 59
Familial Renal Amyloidosis Due to Apolipoprotein a-I Variant 59
Apolipoprotein a-I Amyloidosis 59

Characteristics:

Orphanet epidemiological data:

59
aapoai amyloidosis
Inheritance: Autosomal dominant;

Classifications:



External Ids:

Orphanet 59 ORPHA93560
ICD10 via Orphanet 34 E85.0

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 10.2
2 hypogonadism 9.8
3 infertility 9.8

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:

41
Bone, Liver

Publications for Aapoai Amyloidosis

Articles related to Aapoai Amyloidosis:

# Title Authors Year
1
A case report of hereditary apolipoprotein A-I amyloidosis associated with a novel APOA1 mutation and variable phenotype. ( 27240838 )
2016
2
Clinical and pathologic characteristics of hereditary apolipoprotein A-I amyloidosis in Ireland. ( 23730806 )
2013
3
Spermatogenic and steroidogenic impairment of the testicle characterizes the hereditary leucine-75-proline apolipoprotein a-I amyloidosis. ( 18285420 )
2008
4
Infertility and hypergonadotropic hypogonadism as first evidence of hereditary apolipoprotein A-I amyloidosis. ( 17507040 )
2007
5
Renal apolipoprotein A-I amyloidosis: a rare and usually ignored cause of hereditary tubulointerstitial nephritis. ( 16221867 )
2005
6
Renal apolipoprotein A-I amyloidosis associated with a novel mutant Leu64Pro. ( 15558533 )
2004
7
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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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