MCID: DNB001
MIFTS: 47

Danubian Endemic Familial Nephropathy

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 58 12 54
Nephropathia Epidemica 58 12 54 15 74
Balkan Nephropathy 12 45 15 17 74
Balkan Endemic Nephropathy 58 12 54
Defn 58 12 54
Ben 58 54 17
Aristolochic Acid Nephropathy 54 74
Balkan Endemic Nephropathy; Ben 58
Endemic Nephropathy Balkan 56
Aan 54

Characteristics:

OMIM:

58
Inheritance:
no proved genetic factors


Classifications:



External Ids:

Disease Ontology 12 DOID:0050201 DOID:3052
OMIM 58 124100
MeSH 45 D001449
SNOMED-CT 69 26121002
ICD10 34 N15.0
MedGen 43 C0004698
SNOMED-CT via HPO 70 90708001

Summaries for Danubian Endemic Familial Nephropathy

NIH Rare Diseases : 54 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 acute kidney tubular necrosis and hemorrhagic fever with renal syndrome, 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 Antibodies and Immunoglobulins 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 : 77 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 top 50) (show all 52)
# Related Disease Score Top Affiliating Genes
1 acute kidney tubular necrosis 30.5 ALB B2M
2 hemorrhagic fever with renal syndrome 30.4 ALB B2M
3 viral hemorrhagic fever 11.4
4 autonomic neuropathy 11.2
5 kidney disease 10.7
6 thrombocytopenia 10.5
7 encephalitis 10.4
8 transitional cell carcinoma 10.3
9 immunodeficiency 43 10.3 ALB B2M
10 orthostatic proteinuria 10.3 ALB B2M
11 pituitary hormone deficiency, combined, 2 10.3
12 interstitial nephritis 10.3
13 lyme disease 10.3
14 nephrotic syndrome 10.3
15 leptospirosis 10.3
16 acute pancreatitis 10.3
17 pancreatitis 10.3
18 acute disseminated encephalomyelitis 10.3
19 hypopituitarism 10.3
20 diffuse glomerulonephritis 10.3 ALB B2M
21 bronchitis 10.3
22 non-secretory myeloma 10.2 ALB B2M
23 parkinson disease, late-onset 10.2
24 trigeminal neuralgia 10.2
25 bell's palsy 10.2
26 meningoencephalitis 10.2 ALB B2M
27 acute kidney failure 10.1 ALB B2M
28 bladder cancer 10.1
29 alport syndrome 10.1
30 korean hemorrhagic fever 10.1
31 depersonalization disorder 10.1
32 hydronephrosis 10.1 ALB B2M
33 focal segmental glomerulosclerosis 1 10.1
34 end stage renal failure 10.1
35 focal segmental glomerulosclerosis 10.1
36 renal fibrosis 10.1
37 fanconi syndrome 10.1
38 bladder urothelial carcinoma 10.1
39 hypokalemia 10.1
40 ehrlich tumor carcinoma 10.1 ALB CYP1A1
41 multiple sclerosis 10.1
42 epilepsy 10.1
43 movement disease 10.1
44 chronic kidney failure 10.0 ALB B2M GATA3
45 urinary tract obstruction 10.0 ALB B2M
46 degos 'en cocarde' erythrokeratoderma 10.0
47 gastroschisis 9.9 CYP1A1 CYP1A2
48 uremia 9.9 ALB B2M
49 hepatocellular adenoma 9.9 CYP1A1 CYP1A2
50 acetaminophen metabolism 9.9 CYP1A1 CYP1A2

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:

33
# Description HPO Frequency HPO Source Accession
1 nephropathy 33 HP:0000112

Symptoms via clinical synopsis from OMIM:

58
G U:
endemic nephropathy
primary amyloid renal disease

Clinical features from OMIM:

124100

Symptoms:

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

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 Antibodies
2 Immunoglobulins

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:

20
Kidney

MalaCards organs/tissues related to Danubian Endemic Familial Nephropathy:

42
Kidney, Testes, Endothelial, B Cells, Pituitary

Publications for Danubian Endemic Familial Nephropathy

Articles related to Danubian Endemic Familial Nephropathy:

(show top 50) (show all 160)
# Title Authors Year
1
Clinical course of hantavirus-induced nephropathia epidemica in children compared to adults in Germany-analysis of 317 patients. ( 30874941 )
2019
2
Bioclinical Test to Predict Nephropathia Epidemica Severity at Hospital Admission. ( 29774835 )
2018
3
Urinary Clusterin Is Upregulated in Nephropathia Epidemica. ( 29682100 )
2018
4
A mysterious case of fever and renal failure in a traveler from Finland: nephropathia epidemica. ( 27498915 )
2017
5
Spatial and Temporal Epidemiology of Nephropathia Epidemica Incidence and Hantavirus Seroprevalence in Rodent Hosts: Identification of the Main Environmental Factors in Europe. ( 26996739 )
2017
6
High Triglycerides Are Associated with Low Thrombocyte Counts and High VEGF in Nephropathia Epidemica. ( 28053993 )
2016
7
Smoking Is a Risk Factor for Severe Acute Kidney Injury in Hantavirus-Induced Nephropathia Epidemica. ( 27388481 )
2016
8
Electrocardiographic abnormalities and relative bradycardia in patients with hantavirus-induced nephropathia epidemica. ( 27296590 )
2016
9
Epidemiological dynamics of nephropathia epidemica in the Republic of Tatarstan, Russia, during the period of 1997-2013. ( 26160776 )
2016
10
Determination of procalcitonin levels in patients with nephropathia epidemica - a useful tool or an unnecessary diagnostic procedure? ( 25662000 )
2015
11
Clinical course and long-term outcome of hantavirus-associated nephropathia epidemica, Germany. ( 25533268 )
2015
12
Inflammatory cytokines kinetics define the severity and phase of nephropathia epidemica. ( 25313675 )
2015
13
Acute kidney injury and tools for risk-stratification in 456 patients with hantavirus-induced nephropathia epidemica. ( 25313168 )
2015
14
Severe thrombocytopenia in hantavirus-induced nephropathia epidemica. ( 25380569 )
2015
15
Evaluation of lipase levels in patients with nephropathia epidemica--no evidence for acute pancreatitis. ( 26204892 )
2015
16
The importance of bank vole density and rainy winters in predicting nephropathia epidemica incidence in Northern Sweden. ( 25391132 )
2014
17
No gender-related differences in the severity of nephropathia epidemica, Germany. ( 24090247 )
2013
18
Model-based prediction of nephropathia epidemica outbreaks based on climatological and vegetation data and bank vole population dynamics. ( 23176630 )
2013
19
Relating land cover and spatial distribution of nephropathia epidemica and Lyme borreliosis in Belgium. ( 22894742 )
2013
20
The pathogenesis of nephropathia epidemica: new knowledge and unanswered questions. ( 24126075 )
2013
21
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
22
Ibuprofen or diclofenac is associated with more severe acute kidney injury in nephropathia epidemica. ( 21992005 )
2012
23
High pentraxin-3 plasma levels associate with thrombocytopenia in acute Puumala hantavirus-induced nephropathia epidemica. ( 21901638 )
2012
24
Pulmonary high-resolution computed tomography findings in nephropathia epidemica. ( 21600717 )
2012
25
Systematic literature review of symptoms, signs and severity of serologically confirmed nephropathia epidemica in paediatric and adult patients. ( 21341977 )
2011
26
High activity of indoleamine 2,3-dioxygenase is associated with renal insufficiency in Puumala hantavirus induced nephropathia epidemica. ( 21328391 )
2011
27
Satellite derived forest phenology and its relation with nephropathia epidemica in Belgium. ( 20644685 )
2010
28
The severity of Puumala hantavirus induced nephropathia epidemica can be better evaluated using plasma interleukin-6 than C-reactive protein determinations. ( 20500875 )
2010
29
Nephropathia epidemica (puumala virus infection) in Austrian children. ( 20400926 )
2010
30
Beechnuts and outbreaks of nephropathia epidemica (NE): of mast, mice and men. ( 20237057 )
2010
31
Nephropathia epidemica with a 6-week incubation period after occupational exposure to Puumala hantavirus. ( 19058998 )
2009
32
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
33
Hantavirus disease (nephropathia epidemica) in Belgium: effects of tree seed production and climate. ( 18606026 )
2009
34
Nephropathia epidemica and leptospirosis in Champagne-Ardenne, France: comparison of clinical, biological and epidemiological profiles. ( 19229563 )
2009
35
Transient hypopituitarism in a patient with nephropathia epidemica. ( 21691389 )
2009
36
Imported case of nephropathia epidemica--a case report. ( 19149238 )
2008
37
Association of chest radiography findings with host-related genetic factors in patients with nephropathia epidemica. ( 17907045 )
2008
38
Nephropathia epidemica in metropolitan area, Germany. ( 17953116 )
2007
39
Puumala virus RNA in cerebrospinal fluid in a patient with uncomplicated nephropathia epidemica. ( 17900974 )
2007
40
Radiological findings and their clinical correlations in nephropathia epidemica. ( 17453509 )
2007
41
Tumor necrosis factor-alpha genetic predisposing factors can influence clinical severity in nephropathia epidemica. ( 16987073 )
2006
42
A new Puumala hantavirus subtype in rodents associated with an outbreak of Nephropathia epidemica in South-East Germany in 2004. ( 16650330 )
2006
43
Magnetic resonance renography findings and their clinical associations in nephropathia epidemica. ( 16604971 )
2006
44
Renal MRI findings and their clinical associations in nephropathia epidemica: analysis of quantitative findings. ( 15185121 )
2005
45
Value of ultrasonography in acute renal failure: analysis of qualitative features in patients with nephropathia epidemica. ( 15624524 )
2004
46
Human leukocyte antigens B8-DRB1*03 in pediatric patients with nephropathia epidemica caused by Puumala hantavirus. ( 15602199 )
2004
47
Medical imaging in nephropathia epidemica and their clinical correlations. ( 15450985 )
2004
48
Immune responses to Puumala virus infection and the pathogenesis of nephropathia epidemica. ( 15049335 )
2004
49
Acute disseminated encephalomyelitis following nephropathia epidemica. ( 11939950 )
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

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7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
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31 HGMD
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35 ICD10 via Orphanet
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45 MeSH
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63 PubMed
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70 SNOMED-CT via HPO
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75 UMLS via Orphanet
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