AAN
MCID: DNB001
MIFTS: 47

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 53
Nephropathia Epidemica 57 12 53 15 73
Balkan Nephropathy 12 44 15 73
Balkan Endemic Nephropathy 57 12 53
Defn 57 12 53
Aristolochic Acid Nephropathy 53 73
Ben 57 53
Balkan Endemic Nephropathy; Ben 57
Endemic Nephropathy Balkan 55
Aan 53

Characteristics:

OMIM:

57
Inheritance:
no proved genetic factors


Classifications:



External Ids:

OMIM 57 124100
Disease Ontology 12 DOID:0050201 DOID:3052
ICD10 33 N15.0
MeSH 44 D001449
SNOMED-CT 68 26121002
MedGen 42 C0004698
SNOMED-CT via HPO 69 90708001

Summaries for Danubian Endemic Familial Nephropathy

NIH Rare Diseases : 53 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 nephropathia epidemica, is related to hemorrhagic fever and acute kidney tubular necrosis, and has symptoms including vomiting, abdominal pain and back pain. An important gene associated with Danubian Endemic Familial Nephropathy is B2M (Beta-2-Microglobulin), and among its related pathways/superpathways are Steroid hormone biosynthesis and Androstenedione and testosterone biosynthesis and metabolism p.1. The drugs Adcetris and Gazyva have been mentioned in the context of this disorder. Affiliated tissues include kidney, kidney and testes, and related phenotype is nephropathy.

Disease Ontology : 12 A hemorrhagic fever with renal syndrome that results in infection located in kidney, has material basis in Puumala virus, which is transmitted by bank vole, Myodes glareolus [NCBITaxon:447135]. The infection has symptom headache, has symptom nausea, has symptom back pain, has symptom vomiting, has symptom myalgia, has symptom abdominal pain, has symptom internal hemorrhage, and has symptom renal failure.

Wikipedia : 76 Balkan endemic nephropathy �?? also called Danubian endemic familial nephropathy (DEFN) �?? is a form of... more...

Description 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 all 48)
# Related Disease Score Top Affiliating Genes
1 hemorrhagic fever 30.4 B2M ALB
2 acute kidney tubular necrosis 30.3 B2M ALB
3 hemorrhagic fever with renal syndrome 30.3 B2M ALB
4 viral hemorrhagic fever 11.4
5 autonomic neuropathy 11.1
6 viral infectious disease 10.7
7 thrombocytopenia 10.5
8 kidney disease 10.4
9 korean hemorrhagic fever 10.4
10 encephalitis 10.4
11 bronchitis 10.2
12 interstitial nephritis 10.2
13 nephrotic syndrome 10.2
14 leptospirosis 10.2
15 acute pancreatitis 10.2
16 pancreatitis 10.2
17 acute disseminated encephalomyelitis 10.2
18 hypopituitarism 10.2
19 bell's palsy 10.2
20 immunodeficiency 43 10.2 B2M ALB
21 orthostatic proteinuria 10.2 B2M ALB
22 diffuse glomerulonephritis 10.2 B2M ALB
23 non-secretory myeloma 10.2 B2M ALB
24 meningoencephalitis 10.1 B2M ALB
25 bladder cancer 10.1
26 alport syndrome, x-linked 10.1
27 depersonalization disorder 10.1
28 transitional cell carcinoma 10.1
29 acute kidney failure 10.1 B2M ALB
30 focal segmental glomerulosclerosis 1 10.1
31 end stage renal failure 10.1
32 focal segmental glomerulosclerosis 10.1
33 renal fibrosis 10.1
34 fanconi syndrome 10.1
35 bladder urothelial carcinoma 10.1
36 hypokalemia 10.1
37 trigeminal neuralgia 10.1
38 movement disease 10.1
39 urinary tract obstruction 10.1 B2M ALB
40 chronic kidney failure 10.0 B2M ALB GATA3
41 hydronephrosis 10.0 B2M ALB
42 degos 'en cocarde' erythrokeratoderma 10.0
43 ehrlich tumor carcinoma 10.0 CYP1A1 ALB
44 uremia 9.9 B2M ALB
45 hepatocellular adenoma 9.9 CYP1A2 CYP1A1
46 kleptomania 9.9 PPIG GATA3 CYP1A2
47 acetaminophen metabolism 9.9 CYP1A2 CYP1A1
48 clopidogrel resistance 9.7 PPIG CYP1A2 CYP1A1

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

Symptoms via clinical synopsis from OMIM:

57
G U:
endemic nephropathy
primary amyloid renal disease


Clinical features from OMIM:

124100

Symptoms:

12
  • vomiting
  • abdominal pain
  • back pain
  • myalgia
  • internal hemorrhage
  • headache
  • nausea
  • renal failure

Human phenotypes related to Danubian Endemic Familial Nephropathy:

32
# Description HPO Frequency HPO Source Accession
1 nephropathy 32 HP:0000112

Drugs & Therapeutics for Danubian Endemic Familial Nephropathy

FDA approved drugs:

(show all 12)
# Drug Name Active Ingredient(s) 18 Company Approval Date
1
Adcetris 18 49 BRENTUXIMAB VEDOTIN Seattle Genetics August 2011
2
Gazyva 18 49 OBINUTUZUMAB Genentech October of 2013
3
Iclusig 18 49 PONATINIB HYDROCHLORIDE Ariad Pharmaceuticals December 2012
4
Imbruvica 18 49 IBRUTINIB Pharmacyclics November of 2013/February 2014
5
Marqibo 18 49 VINCRISTINE SULFATE Talon Therapeutics August 2012
6
Pomalyst 18 49 POMALIDOMIDE Celgene February 2013
7
Revlimid 18 49 LENALIDOMIDE Celgene June 2013
8
Synribo 18 49 OMACETAXINE MEPESUCCINATE Teva Pharmaceutical October 2012
9
Temodar 18 49 TEMOZOLOMIDE Schering-Plough August 1999
10
Xtandi 18 49 ENZALUTAMIDE Medivation August 2012
11
Yervoy 18 49 IPILIMUMAB Bristol-Myers Squibb March 2011
12
Zelboraf 18 49 VEMURAFENIB Roche August of 2011

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 Diagnostic of Puumala Virus Infection in France Recruiting NCT02455375

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

The Foundational Model of Anatomy Ontology organs/tissues related to Danubian Endemic Familial Nephropathy:

19
Kidney

MalaCards organs/tissues related to Danubian Endemic Familial Nephropathy:

41
Kidney, Testes, Endothelial, B Cells

Publications for Danubian Endemic Familial Nephropathy

Articles related to Danubian Endemic Familial Nephropathy:

(show top 50) (show all 158)
# Title Authors Year
1
Urinary Clusterin Is Upregulated in Nephropathia Epidemica. ( 29682100 )
2018
2
Bioclinical Test to Predict Nephropathia Epidemica Severity at Hospital Admission. ( 29774835 )
2018
3
Smoking Is a Risk Factor for Severe Acute Kidney Injury in Hantavirus-Induced Nephropathia Epidemica. ( 27388481 )
2016
4
Spatial and Temporal Epidemiology of Nephropathia Epidemica Incidence and Hantavirus Seroprevalence in Rodent Hosts: Identification of the Main Environmental Factors in Europe. ( 26996739 )
2016
5
Electrocardiographic abnormalities and relative bradycardia in patients with hantavirus-induced nephropathia epidemica. ( 27296590 )
2016
6
A mysterious case of fever and renal failure in a traveler from Finland: nephropathia epidemica. ( 27498915 )
2016
7
High Triglycerides Are Associated with Low Thrombocyte Counts and High VEGF in Nephropathia Epidemica. ( 28053993 )
2016
8
Evaluation of lipase levels in patients with nephropathia epidemica--no evidence for acute pancreatitis. ( 26204892 )
2015
9
Epidemiological dynamics of nephropathia epidemica in the Republic of Tatarstan, Russia, during the period of 1997-2013. ( 26160776 )
2015
10
Clinical course and long-term outcome of hantavirus-associated nephropathia epidemica, Germany. ( 25533268 )
2015
11
Determination of procalcitonin levels in patients with nephropathia epidemica - a useful tool or an unnecessary diagnostic procedure? ( 25662000 )
2015
12
Inflammatory cytokines kinetics define the severity and phase of nephropathia epidemica. ( 25313675 )
2014
13
The importance of bank vole density and rainy winters in predicting nephropathia epidemica incidence in northern sweden. ( 25391132 )
2014
14
Severe thrombocytopenia in hantavirus-induced nephropathia epidemica. ( 25380569 )
2014
15
Acute kidney injury and tools for risk-stratification in 456 patients with hantavirus-induced nephropathia epidemica. ( 25313168 )
2014
16
The pathogenesis of nephropathia epidemica: new knowledge and unanswered questions. ( 24126075 )
2013
17
Relating land cover and spatial distribution of nephropathia epidemica and Lyme borreliosis in Belgium. ( 22894742 )
2013
18
Model-based prediction of nephropathia epidemica outbreaks based on climatological and vegetation data and bank vole population dynamics. ( 23176630 )
2013
19
No gender-related differences in the severity of nephropathia epidemica, Germany. ( 24090247 )
2013
20
The degree of leukocytosis and urine GATA-3 mRNA levels are risk factors for severe acute kidney injury in Puumala virus nephropathia epidemica. ( 22523590 )
2012
21
Pulmonary high-resolution computed tomography findings in nephropathia epidemica. ( 21600717 )
2012
22
High pentraxin-3 plasma levels associate with thrombocytopenia in acute Puumala hantavirus-induced nephropathia epidemica. ( 21901638 )
2012
23
Ibuprofen or diclofenac is associated with more severe acute kidney injury in nephropathia epidemica. ( 21992005 )
2012
24
High activity of indoleamine 2,3-dioxygenase is associated with renal insufficiency in Puumala hantavirus induced nephropathia epidemica. ( 21328391 )
2011
25
Systematic literature review of symptoms, signs and severity of serologically confirmed nephropathia epidemica in paediatric and adult patients. ( 21341977 )
2011
26
Satellite derived forest phenology and its relation with nephropathia epidemica in Belgium. ( 20644685 )
2010
27
Nephropathia epidemica (puumala virus infection) in Austrian children. ( 20400926 )
2010
28
Beechnuts and outbreaks of nephropathia epidemica (NE): of mast, mice and men. ( 20237057 )
2010
29
The severity of Puumala hantavirus induced nephropathia epidemica can be better evaluated using plasma interleukin-6 than C-reactive protein determinations. ( 20500875 )
2010
30
Hantavirus disease (nephropathia epidemica) in Belgium: effects of tree seed production and climate. ( 18606026 )
2009
31
Transient hypopituitarism in a patient with nephropathia epidemica. ( 21691389 )
2009
32
Nephropathia epidemica and leptospirosis in Champagne-Ardenne, France: comparison of clinical, biological and epidemiological profiles. ( 19229563 )
2009
33
Time series analysis performed on nephropathia epidemica in humans of northern Sweden in relation to bank vole population dynamic and the NAO index. ( 18771520 )
2009
34
Nephropathia epidemica with a 6-week incubation period after occupational exposure to Puumala hantavirus. ( 19058998 )
2009
35
Imported case of nephropathia epidemica--a case report. ( 19149238 )
2008
36
Nephropathia epidemica in metropolitan area, Germany. ( 17953116 )
2007
37
Puumala virus RNA in cerebrospinal fluid in a patient with uncomplicated nephropathia epidemica. ( 17900974 )
2007
38
Radiological findings and their clinical correlations in nephropathia epidemica. ( 17453509 )
2007
39
Magnetic resonance renography findings and their clinical associations in nephropathia epidemica. ( 16604971 )
2006
40
A new Puumala hantavirus subtype in rodents associated with an outbreak of Nephropathia epidemica in South-East Germany in 2004. ( 16650330 )
2006
41
Tumor necrosis factor-alpha genetic predisposing factors can influence clinical severity in nephropathia epidemica. ( 16987073 )
2006
42
Renal MRI findings and their clinical associations in nephropathia epidemica: analysis of quantitative findings. ( 15185121 )
2005
43
Medical imaging in nephropathia epidemica and their clinical correlations. ( 15450985 )
2004
44
Human leukocyte antigens B8-DRB1*03 in pediatric patients with nephropathia epidemica caused by Puumala hantavirus. ( 15602199 )
2004
45
Value of ultrasonography in acute renal failure: analysis of qualitative features in patients with nephropathia epidemica. ( 15624524 )
2004
46
Immune responses to Puumala virus infection and the pathogenesis of nephropathia epidemica. ( 15049335 )
2004
47
Acute disseminated encephalomyelitis following nephropathia epidemica. ( 11939950 )
2002
48
[Puumala virus infection (nephropathia epidemica) as different diagnosis of acute renal failure]. ( 11894176 )
2002
49
Increased glomerular permeability in patients with nephropathia epidemica caused by Puumala hantavirus. ( 11812874 )
2002
50
Renal ultrasound findings and their clinical associations in nephropathia epidemica. Analysis of quantitative parameters. ( 12100331 )
2002

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

GO Terms for Danubian Endemic Familial Nephropathy

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.62 B2M CYP1A1 CYP1A2 GATA3
2 retina homeostasis GO:0001895 9.55 ALB B2M
3 T cell differentiation in thymus GO:0033077 9.54 B2M GATA3
4 cellular response to copper ion GO:0071280 9.52 CYP1A1 CYP1A2
5 drug metabolic process GO:0017144 9.51 CYP1A1 CYP1A2
6 response to immobilization stress GO:0035902 9.49 CYP1A1 CYP1A2
7 protein refolding GO:0042026 9.48 B2M PPIG
8 long-chain fatty acid biosynthetic process GO:0042759 9.46 CYP1A1 CYP1A2
9 epoxygenase P450 pathway GO:0019373 9.43 CYP1A1 CYP1A2
10 omega-hydroxylase P450 pathway GO:0097267 9.4 CYP1A1 CYP1A2
11 toxin metabolic process GO:0009404 9.37 CYP1A1 CYP1A2
12 hydrogen peroxide biosynthetic process GO:0050665 9.26 CYP1A1 CYP1A2
13 heterocycle metabolic process GO:0046483 9.16 CYP1A1 CYP1A2
14 porphyrin-containing compound metabolic process GO:0006778 8.96 CYP1A1 CYP1A2
15 dibenzo-p-dioxin metabolic process GO:0018894 8.62 CYP1A1 CYP1A2

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

# Name GO ID Score Top Affiliating Genes
1 monooxygenase activity GO:0004497 9.32 CYP1A1 CYP1A2
2 oxygen binding GO:0019825 9.26 ALB CYP1A1
3 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 9.16 CYP1A1 CYP1A2
4 aromatase activity GO:0070330 8.96 CYP1A1 CYP1A2
5 demethylase activity GO:0032451 8.62 CYP1A1 CYP1A2

Sources for Danubian Endemic Familial Nephropathy

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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