AAN
MCID: DNB001
MIFTS: 42

Danubian Endemic Familial Nephropathy (AAN)

Categories: Cancer diseases, Genetic diseases, Infectious diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Danubian Endemic Familial Nephropathy

MalaCards integrated aliases for Danubian Endemic Familial Nephropathy:

Name: Danubian Endemic Familial Nephropathy 57 12 20
Balkan Nephropathy 12 44 15 17 70 32
Nephropathia Epidemica 57 12 20 15 70
Balkan Endemic Nephropathy 57 12 20
Defn 57 12 20
Ben 57 20 17
Aristolochic Acid Nephropathy 20 70
Balkan Endemic Nephropathy; Ben 57
Endemic Nephropathy Balkan 54
Aan 20

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
no proved genetic factors


Classifications:



External Ids:

Disease Ontology 12 DOID:0050201 DOID:3052
OMIM® 57 124100
MeSH 44 D001449
SNOMED-CT 67 197748005
ICD10 32 N15.0
MedGen 41 C0004698
SNOMED-CT via HPO 68 90708001
UMLS 70 C0004698 C0242993 C4049993

Summaries for Danubian Endemic Familial Nephropathy

GARD : 20 Balkan endemic nephropathy is a kidney disease that affects people living in rural areas of Bosnia, Bulgaria, Croatia, Romania, and Serbia (areas along the Danube river and its tributaries). Affected individuals develop kidney damage that slowly progresses over 10 to 20 years to kidney failure. Many people with this condition also develop a type of bladder cancer known as upper urothelial carcinoma (UUC). Balkan endemic nephropathy is caused by chronic dietary exposure to low concentrations of a toxin called aristolochic acid, which comes from a plant called Aristolochia clematis. Genetics factors may also be involved. There is no specific prevention or treatment of this condition. Management depends upon strategies that delay progression and manage the complications of the kidney disease. Dialysis or kidney transplantation may be needed.

MalaCards based summary : Danubian Endemic Familial Nephropathy, also known as balkan nephropathy, is related to acute kidney failure and proteinuria, chronic benign. An important gene associated with Danubian Endemic Familial Nephropathy is B2M (Beta-2-Microglobulin), and among its related pathways/superpathways are Clomipramine Pathway, Pharmacokinetics and Tryptophan metabolism. The drugs Immunoglobulins and Antibodies have been mentioned in the context of this disorder. Affiliated tissues include kidney, brain and liver, and related phenotypes are nephropathy and liver/biliary system

Disease Ontology : 12 An interstitial nephritis endemic to the regions along the Danube river, in the modern countries of Croatia, Bosnia and Herzegovina, Serbia, Romania and Bulgaria.

Wikipedia : 73 Balkan endemic nephropathy (BEN) is a form of interstitial nephritis causing kidney failure. It was... more...

More information from OMIM: 124100

Related Diseases for Danubian Endemic Familial Nephropathy

Diseases related to Danubian Endemic Familial Nephropathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 217)
# Related Disease Score Top Affiliating Genes
1 acute kidney failure 31.3 LCN2 B2M ALB
2 proteinuria, chronic benign 31.2 VEGFA NPHS2 B2M ALB
3 glomerulonephritis 31.0 NPHS2 LCN2 B2M ALB
4 end stage renal disease 31.0 VEGFA NPHS2 B2M ALB
5 acute kidney tubular necrosis 30.8 OGA LCN2 B2M ALB
6 chronic pyelonephritis 30.8 HLA-A B2M ALB
7 pyuria 30.6 LCN2 B2M ALB
8 obstructive nephropathy 30.4 LCN2 CLU ALB
9 fanconi syndrome 30.4 OGA B2M ALB ALAD
10 hantavirus hemorrhagic fever with renal syndrome 30.0 VEGFA MX2 ALB
11 deficiency anemia 30.0 LCN2 CYP1A1 B2M ALB ALAD
12 chronic kidney disease 29.8 VEGFA NPHS2 LCN2 HLA-A B2M ALB
13 viral hemorrhagic fever 11.2
14 autonomic neuropathy 11.0
15 thrombocytopenia 10.6
16 myopia 10.5
17 transitional cell carcinoma 10.4
18 disseminated intravascular coagulation 10.4
19 pyelonephritis 10.4
20 orthostatic proteinuria 10.4 B2M ALB
21 non-secretory myeloma 10.3 B2M ALB
22 epilepsy 10.3
23 oxirane allergy 10.3 B2M ALB
24 ifap syndrome 2 10.3
25 uveitis 10.3
26 iridocyclitis 10.3
27 hypopituitarism 10.3
28 idiopathic steroid-resistant nephrotic syndrome 10.3 NPHS2 ALB
29 interstitial nephritis 10.3
30 nephrosclerosis 10.3
31 kidney disease 10.3
32 kidney papillary necrosis 10.3 OGA ALB
33 acroosteolysis 10.3 VEGFA ALB
34 hypertensive encephalopathy 10.3 VEGFA ALB
35 amyloidosis, hereditary, transthyretin-related 10.3 CLU B2M ALB
36 disease by infectious agent 10.2
37 pulmonary edema 10.2
38 anuria 10.2
39 encephalitis 10.2
40 bronchitis 10.2
41 urinary tract obstruction 10.2 LCN2 B2M ALB
42 bladder cancer 10.2
43 lecithin:cholesterol acyltransferase deficiency 10.2
44 microvascular complications of diabetes 3 10.2
45 microvascular complications of diabetes 4 10.2
46 microvascular complications of diabetes 6 10.2
47 microvascular complications of diabetes 7 10.2
48 renal fibrosis 10.2
49 rare tumor 10.2
50 blood protein disease 10.2 VEGFA B2M ALB

Graphical network of the top 20 diseases related to Danubian Endemic Familial Nephropathy:



Diseases related to Danubian Endemic Familial Nephropathy

Symptoms & Phenotypes for Danubian Endemic Familial Nephropathy

Human phenotypes related to Danubian Endemic Familial Nephropathy:

31
# Description HPO Frequency HPO Source Accession
1 nephropathy 31 HP:0000112

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
G U:
endemic nephropathy
primary amyloid renal disease

Clinical features from OMIM®:

124100 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Danubian Endemic Familial Nephropathy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 liver/biliary system MP:0005370 9.17 ALB B2M CYP1A1 CYP1A2 LCN2 TP53

Drugs & Therapeutics for Danubian Endemic Familial Nephropathy

Drugs for Danubian Endemic Familial Nephropathy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Immunoglobulins
2 Antibodies

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Puumala Hantavirus Infection in France: Evaluation of Commercial Assays for the Detection of Antibodies Against This Virus and the Use of Urine Samples for the Molecular Detection of This Infection Recruiting NCT02455375
2 Hantavirus Registry - HantaReg Recruiting NCT04323904

Search NIH Clinical Center for Danubian Endemic Familial Nephropathy

Cochrane evidence based reviews: balkan nephropathy

Genetic Tests for Danubian Endemic Familial Nephropathy

Anatomical Context for Danubian Endemic Familial Nephropathy

MalaCards organs/tissues related to Danubian Endemic Familial Nephropathy:

40
Kidney, Brain, Liver, Bone Marrow, Bone, Thyroid, Skin

Publications for Danubian Endemic Familial Nephropathy

Articles related to Danubian Endemic Familial Nephropathy:

(show top 50) (show all 165)
# Title Authors PMID Year
1
On Danubian endemic familial nephropathy (Balkan nephropathy). Some problems. 61 57
5006615 1970
2
Balkan endemic nephropathy: a need for novel aetiological approaches. 57
9797928 1998
3
Genetic susceptibility to severe course of nephropathia epidemica caused by Puumala hantavirus. 57
8770970 1996
4
Genetic predisposition to Balkan endemic nephropathy. 57
8730422 1996
5
Hantavirus pulmonary syndrome: a clinical description of 17 patients with a newly recognized disease. The Hantavirus Study Group. 57
8121458 1994
6
Hemorrhagic fever with renal syndrome. 57
2573914 1989
7
Cytogenetic studies in Balkan endemic nephropathy. 57
3422361 1988
8
[Chronic nephritis due to lead poisoning by digestive route (flour)]. 57
13505667 1957
9
Urinary glycosaminoglycans in different phases of Balkan endemic nephropathy. 61 54
8302410 1993
10
Beta 2-microglobulin in patients with Balkan nephropathy and in healthy members of their families. 54 61
1762327 1991
11
c-Jun Amino Terminal Kinase Signaling Promotes Aristolochic Acid-Induced Acute Kidney Injury. 61
33643061 2021
12
Genes and environment in chronic kidney disease hotspots. 61
30451737 2019
13
Differences in Risk Factors and Prevalence of Vascular Calcification between Pre-Dialysis and Hemodialysis Balkan Nephropathy Patients. 61
30344235 2018
14
Causal mechanism and component causes in Mesoamerican-Sri Lankan nephropathy: the moderator's view. 61
28407132 2017
15
Lynch syndrome and exposure to aristolochic acid in upper-tract urothelial carcinoma: its clinical impact? 61
27785421 2016
16
Chronic dietary exposure to aristolochic acid and kidney function in native farmers from a Croatian endemic area and Bosnian immigrants. 61
25587102 2015
17
Balkan nephropathy. 61
25725245 2015
18
Consensus statement on screening, diagnosis, classification and treatment of endemic (Balkan) nephropathy. 61
24166461 2014
19
The assessment of arterial stiffness in endemic (Balkan) nephropathy patients undergoing haemodialysis. 61
24802309 2014
20
Endemic (Balkan) nephropathy is aristolochic acid nephropathy. 61
24798595 2014
21
Ochratoxin A is not detectable in renal and testicular tumours. 61
24578744 2014
22
Programmed cell death in sepsis in balkan nephropathy. 61
23700946 2013
23
Possible health impacts of naturally occurring uptake of aristolochic acids by maize and cucumber roots: links to the etiology of endemic (Balkan) nephropathy. 61
22851152 2013
24
Aristolochic acid nephropathy: Harbinger of a global iatrogenic disease. 61
23238808 2013
25
Aristolactam-DNA adducts are a biomarker of environmental exposure to aristolochic acid. 61
22071594 2012
26
Enhanced apoptotic death of erythrocytes induced by the mycotoxin ochratoxin A. 61
23095759 2012
27
Could disappearance of endemic (Balkan) nephropathy be expected in forthcoming decades? 61
22116163 2012
28
TP53 Mutational signature for aristolochic acid: an environmental carcinogen. 61
21413016 2011
29
[Sporadic upper urinary tract urothelial cell carcinomas: identification of interaction between toxic carcinogens and individuals genetic susceptibility]. 61
20123521 2010
30
Tubular marker excretion in children from families with Balkan nephropathy. 61
19705162 2009
31
Management of transitional-cell carcinoma of the renal pelvis and ureter. 61
19562529 2009
32
p53 mutations as fingerprints for aristolochic acid: an environmental carcinogen in endemic (Balkan) nephropathy. 61
19428366 2009
33
SELDI-TOF as a method for biomarker discovery in the urine of aristolochic-acid-treated mice. 61
19294690 2009
34
Balkan nephropathy: evolution of our knowledge. 61
18725017 2008
35
Role of environmental toxins in endemic (Balkan) nephropathy. October 2006, Zagreb, Croatia. 61
17942951 2007
36
Aristolochic acid and the etiology of endemic (Balkan) nephropathy. 61
17620607 2007
37
Urothelial cancer in patients with Endemic Balkan Nephropathy (EN) after renal transplantation. 61
17994456 2007
38
Ochratoxin A induces oxidative DNA damage in liver and kidney after oral dosing to rats. 61
16302199 2005
39
Ochratoxin A: induction of (oxidative) DNA damage, cytotoxicity and apoptosis in mammalian cell lines and primary cells. 61
15588931 2005
40
[Prevention of bladder cancer]. 61
15150694 2004
41
Transitional cell carcinoma of the ureter and renal pelvis. 61
12900009 2003
42
Cancers of the kidney and urinary tract in patients on dialysis for end-stage renal disease: analysis of data from the United States, Europe, and Australia and New Zealand. 61
12506152 2003
43
Increased urinary albumin excretion in children from families with Balkan nephropathy. 61
12432433 2002
44
Epidemiology of end-stage renal disease and current status of hemodialysis in Yugoslavia. 61
12403401 2002
45
Nature of the virus associated with endemic Balkan nephropathy. 61
12141978 2002
46
Balkan nephropathy: a disorder of renal embryogenesis? 61
12097750 2002
47
The level of interleukin-2 and of soluble interleukin-2 receptor in patients with Balkan nephropathy. 61
14752984 2002
48
[Tumors of the upper urinary tract: results of conservative surgery]. 61
11859657 2001
49
[Etiopathology, risk factors, environmental influences and epidemiology of bladder cancer]. 61
11760347 2001
50
The significance of apoptosis for early diagnosis of Balkan nephropathy. 61
11568234 2001

Variations for Danubian Endemic Familial Nephropathy

Expression for Danubian Endemic Familial Nephropathy

Search GEO for disease gene expression data for Danubian Endemic Familial Nephropathy.

Pathways for Danubian Endemic Familial Nephropathy

Pathways related to Danubian Endemic Familial Nephropathy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.65 CYP2C18 CYP1A2 CYP1A1
2
Show member pathways
11.46 CYP2C18 CYP1A2 CYP1A1
3
Show member pathways
11.33 SULT1A1 CYP1A2 CYP1A1
4 11.01 VEGFA CYP1A2 CYP1A1
5
Show member pathways
10.72 SULT1A1 CYP1A2 CYP1A1
6
Show member pathways
10.61 CYP1A2 CYP1A1
7 10.48 CYP1A2 CYP1A1
8
Show member pathways
10.33 SULT1A1 CYP1A2 CYP1A1

GO Terms for Danubian Endemic Familial Nephropathy

Cellular components related to Danubian Endemic Familial Nephropathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.2 VEGFA TP53 SULT1A1 SLC22A11 SEC61G OGA
2 organelle membrane GO:0031090 9.54 CYP2C18 CYP1A2 CYP1A1
3 endoplasmic reticulum GO:0005783 9.28 TP53 SEC61G NPHS2 HLA-A CYP2C18 CYP1A2
4 MHC class I protein complex GO:0042612 9.26 HLA-A B2M
5 MHC class I peptide loading complex GO:0042824 9.16 HLA-A B2M
6 platelet alpha granule lumen GO:0031093 9.13 VEGFA CLU ALB

Biological processes related to Danubian Endemic Familial Nephropathy according to GeneCards Suite gene sharing:

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 innate immune response GO:0045087 10 MX2 LCN2 HLA-A CLU B2M
2 xenobiotic metabolic process GO:0006805 9.77 SULT1A1 CYP2C18 CYP1A2
3 response to organic substance GO:0010033 9.76 CYP1A2 CYP1A1 ALAD
4 interferon-gamma-mediated signaling pathway GO:0060333 9.65 TP53 HLA-A B2M
5 response to arsenic-containing substance GO:0046685 9.58 CYP1A1 ALAD
6 omega-hydroxylase P450 pathway GO:0097267 9.57 CYP1A2 CYP1A1
7 antigen processing and presentation of endogenous peptide antigen via MHC class I GO:0019885 9.56 HLA-A B2M
8 positive regulation of T cell cytokine production GO:0002726 9.55 HLA-A B2M
9 hydrogen peroxide biosynthetic process GO:0050665 9.54 CYP1A2 CYP1A1
10 toxin metabolic process GO:0009404 9.52 CYP1A2 CYP1A1
11 amine metabolic process GO:0009308 9.51 SULT1A1 CYP1A1
12 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent GO:0002480 9.49 HLA-A B2M
13 heterocycle metabolic process GO:0046483 9.46 CYP1A2 CYP1A1
14 flavonoid metabolic process GO:0009812 9.43 SULT1A1 CYP1A1
15 estrogen metabolic process GO:0008210 9.43 SULT1A1 CYP1A2 CYP1A1
16 response to drug GO:0042493 9.43 TP53 LCN2 CYP1A2 CYP1A1 B2M ALAD
17 positive regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061419 9.4 VEGFA TP53
18 porphyrin-containing compound metabolic process GO:0006778 9.37 CYP1A2 CYP1A1
19 epoxygenase P450 pathway GO:0019373 9.33 CYP2C18 CYP1A2 CYP1A1
20 dibenzo-p-dioxin metabolic process GO:0018894 9.32 CYP1A2 CYP1A1
21 response to herbicide GO:0009635 8.8 LCN2 CYP1A1 ALAD

Molecular functions related to Danubian Endemic Familial Nephropathy according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 chaperone binding GO:0051087 9.67 TP53 CLU ALB
2 monooxygenase activity GO:0004497 9.65 CYP2C18 CYP1A2 CYP1A1
3 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016705 9.63 CYP2C18 CYP1A2 CYP1A1
4 iron ion binding GO:0005506 9.62 LCN2 CYP2C18 CYP1A2 CYP1A1
5 estrogen 16-alpha-hydroxylase activity GO:0101020 9.43 CYP1A2 CYP1A1
6 oxygen binding GO:0019825 9.43 CYP2C18 CYP1A1 ALB
7 demethylase activity GO:0032451 9.4 CYP1A2 CYP1A1
8 estrogen 2-hydroxylase activity GO:0101021 9.37 CYP1A2 CYP1A1
9 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen GO:0016712 9.33 CYP2C18 CYP1A2 CYP1A1
10 enterobactin binding GO:1903981 8.96 LCN2 ALB
11 aromatase activity GO:0070330 8.8 CYP2C18 CYP1A2 CYP1A1

Sources for Danubian Endemic Familial Nephropathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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