AAN
MCID: DNB001
MIFTS: 45

Danubian Endemic Familial Nephropathy (AAN)

Categories: Rare diseases, Nephrological diseases, Infectious diseases, Genetic 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
NCIt 50 C84584
SNOMED-CT 68 197748005 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 with renal syndrome and viral hemorrhagic fever, and has symptoms including headache, nausea and back pain. An important gene associated with Danubian Endemic Familial Nephropathy is B2M (Beta-2-Microglobulin), and among its related pathways/superpathways are NF-kappaB Signaling and Primary immunodeficiency. The drugs Antibodies and Immunoglobulins have been mentioned in the context of this disorder. Affiliated tissues include kidney, kidney and endothelial, 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 top 50) (show all 158)
# Related Disease Score Top Affiliating Genes
1 hemorrhagic fever with renal syndrome 30.6 B2M CD40LG
2 viral hemorrhagic fever 11.3
3 autonomic neuropathy 11.0
4 sclerosing keratitis 10.8 B2M CD79A
5 orthostatic proteinuria 10.7 B2M CD79A
6 amyloid tumor 10.7 B2M CD79A
7 small intestine lymphoma 10.7 B2M CD79A
8 anterior scleritis 10.6 B2M CD79A
9 selective igg deficiency disease 10.6 CD40LG CD79A
10 c1q nephropathy 10.6 CD40LG CD79A
11 meningovascular neurosyphilis 10.6 CD40LG CD79A
12 alpha chain disease 10.6 CD40LG CD79A
13 brill-zinsser disease 10.6 CD40LG CD79A
14 exudative glomerulonephritis 10.6 CD40LG CD79A
15 cork-handlers' disease 10.6 CD40LG CD79A
16 salpingo-oophoritis 10.6 CD40LG CD79A
17 early yaws 10.6 CD40LG CD79A
18 ventilation pneumonitis 10.6 CD40LG CD79A
19 chronic interstitial cystitis 10.6 CD40LG CD79A
20 axillary adenitis 10.6 CD40LG CD79A
21 cryofibrinogenemia 10.6 CD40LG CD79A
22 trichostrongyloidiasis 10.6 CD40LG CD79A
23 subacute bacterial endocarditis 10.6 CD40LG CD79A
24 heterophyiasis 10.6 CD40LG CD79A
25 immunoglobulin g deficiency 10.6 CD40LG CD79A
26 orbital granuloma 10.6 CD40LG CD79A
27 transient hypogammaglobulinemia of infancy 10.6 CD40LG CD79A
28 hyperglobulinemic purpura 10.6 CD40LG CD79A
29 gastroduodenitis 10.6 CD40LG CD79A
30 bacterial conjunctivitis 10.6 CD40LG CD79A
31 heavy chain disease 10.6 CD40LG CD79A
32 ophthalmia neonatorum 10.6 CD40LG CD79A
33 immunoglobulin a deficiency 1 10.6 CD40LG CD79A
34 functional colonic disease 10.6 B2M CD40LG
35 parotid disease 10.6 CD40LG CD79A
36 cerebral arteritis 10.6 CD40LG CD79A
37 selective immunoglobulin deficiency disease 10.6 CD40LG CD79A
38 geniculate herpes zoster 10.6 CD40LG CD79A
39 sporotrichosis 10.6 CD40LG CD79A
40 fallopian tube disease 10.6 CD40LG CD79A
41 hyperimmunoglobulin syndrome 10.6 CD40LG CD79A
42 congenital syphilis 10.6 CD40LG CD79A
43 polyclonal hypergammaglobulinemia 10.6 CD40LG CD79A
44 monoclonal paraproteinemia 10.6 CD40LG CD79A
45 salpingitis 10.6 CD40LG CD79A
46 ocular toxoplasmosis 10.6 CD40LG CD79A
47 dysgammaglobulinemia 10.6 CD40LG CD79A
48 congenital hypogammaglobulinemia 10.6 CD40LG CD79A
49 chronic polyneuropathy 10.6 CD40LG CD79A
50 spinocerebellar ataxia, autosomal recessive 10 10.6 CD40LG CD79A

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
GU:
endemic nephropathy
primary amyloid renal disease


Clinical features from OMIM:

124100

Symptoms:

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

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:

19
Kidney

MalaCards organs/tissues related to Danubian Endemic Familial Nephropathy:

41
Kidney, Endothelial, Testes, B Cells

Publications for Danubian Endemic Familial Nephropathy

Articles related to Danubian Endemic Familial Nephropathy:

(show top 50) (show all 155)
# Title Authors Year
1
Smoking Is a Risk Factor for Severe Acute Kidney Injury in Hantavirus-Induced Nephropathia Epidemica. ( 27388481 )
2016
2
Spatial and Temporal Epidemiology of Nephropathia Epidemica Incidence and Hantavirus Seroprevalence in Rodent Hosts: Identification of the Main Environmental Factors in Europe. ( 26996739 )
2016
3
Electrocardiographic abnormalities and relative bradycardia in patients with hantavirus-induced nephropathia epidemica. ( 27296590 )
2016
4
A mysterious case of fever and renal failure in a traveler from Finland: nephropathia epidemica. ( 27498915 )
2016
5
High Triglycerides Are Associated with Low Thrombocyte Counts and High VEGF in Nephropathia Epidemica. ( 28053993 )
2016
6
Evaluation of lipase levels in patients with nephropathia epidemica--no evidence for acute pancreatitis. ( 26204892 )
2015
7
Epidemiological dynamics of nephropathia epidemica in the Republic of Tatarstan, Russia, during the period of 1997-2013. ( 26160776 )
2015
8
Clinical course and long-term outcome of hantavirus-associated nephropathia epidemica, Germany. ( 25533268 )
2015
9
Determination of procalcitonin levels in patients with nephropathia epidemica - a useful tool or an unnecessary diagnostic procedure? ( 25662000 )
2015
10
Inflammatory cytokines kinetics define the severity and phase of nephropathia epidemica. ( 25313675 )
2014
11
The importance of bank vole density and rainy winters in predicting nephropathia epidemica incidence in northern sweden. ( 25391132 )
2014
12
Severe thrombocytopenia in hantavirus-induced nephropathia epidemica. ( 25380569 )
2014
13
Acute kidney injury and tools for risk-stratification in 456 patients with hantavirus-induced nephropathia epidemica. ( 25313168 )
2014
14
The pathogenesis of nephropathia epidemica: new knowledge and unanswered questions. ( 24126075 )
2013
15
Relating land cover and spatial distribution of nephropathia epidemica and Lyme borreliosis in Belgium. ( 22894742 )
2013
16
Model-based prediction of nephropathia epidemica outbreaks based on climatological and vegetation data and bank vole population dynamics. ( 23176630 )
2013
17
No gender-related differences in the severity of nephropathia epidemica, Germany. ( 24090247 )
2013
18
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
19
Pulmonary high-resolution computed tomography findings in nephropathia epidemica. ( 21600717 )
2012
20
High pentraxin-3 plasma levels associate with thrombocytopenia in acute Puumala hantavirus-induced nephropathia epidemica. ( 21901638 )
2012
21
Ibuprofen or diclofenac is associated with more severe acute kidney injury in nephropathia epidemica. ( 21992005 )
2012
22
High activity of indoleamine 2,3-dioxygenase is associated with renal insufficiency in Puumala hantavirus induced nephropathia epidemica. ( 21328391 )
2011
23
Systematic literature review of symptoms, signs and severity of serologically confirmed nephropathia epidemica in paediatric and adult patients. ( 21341977 )
2011
24
Satellite derived forest phenology and its relation with nephropathia epidemica in Belgium. ( 20644685 )
2010
25
Nephropathia epidemica (puumala virus infection) in Austrian children. ( 20400926 )
2010
26
Beechnuts and outbreaks of nephropathia epidemica (NE): of mast, mice and men. ( 20237057 )
2010
27
The severity of Puumala hantavirus induced nephropathia epidemica can be better evaluated using plasma interleukin-6 than C-reactive protein determinations. ( 20500875 )
2010
28
Hantavirus disease (nephropathia epidemica) in Belgium: effects of tree seed production and climate. ( 18606026 )
2009
29
Transient hypopituitarism in a patient with nephropathia epidemica. ( 21691389 )
2009
30
Nephropathia epidemica and leptospirosis in Champagne-Ardenne, France: comparison of clinical, biological and epidemiological profiles. ( 19229563 )
2009
31
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
32
Nephropathia epidemica with a 6-week incubation period after occupational exposure to Puumala hantavirus. ( 19058998 )
2009
33
Association of chest radiography findings with host-related genetic factors in patients with nephropathia epidemica. ( 17907045 )
2008
34
Imported case of nephropathia epidemica--a case report. ( 19149238 )
2008
35
Nephropathia epidemica in metropolitan area, Germany. ( 17953116 )
2007
36
Puumala virus RNA in cerebrospinal fluid in a patient with uncomplicated nephropathia epidemica. ( 17900974 )
2007
37
Magnetic resonance renography findings and their clinical associations in nephropathia epidemica. ( 16604971 )
2006
38
A new Puumala hantavirus subtype in rodents associated with an outbreak of Nephropathia epidemica in South-East Germany in 2004. ( 16650330 )
2006
39
Tumor necrosis factor-alpha genetic predisposing factors can influence clinical severity in nephropathia epidemica. ( 16987073 )
2006
40
Renal MRI findings and their clinical associations in nephropathia epidemica: analysis of quantitative findings. ( 15185121 )
2005
41
Medical imaging in nephropathia epidemica and their clinical correlations. ( 15450985 )
2004
42
Human leukocyte antigens B8-DRB1*03 in pediatric patients with nephropathia epidemica caused by Puumala hantavirus. ( 15602199 )
2004
43
Value of ultrasonography in acute renal failure: analysis of qualitative features in patients with nephropathia epidemica. ( 15624524 )
2004
44
Immune responses to Puumala virus infection and the pathogenesis of nephropathia epidemica. ( 15049335 )
2004
45
Acute disseminated encephalomyelitis following nephropathia epidemica. ( 11939950 )
2002
46
[Puumala virus infection (nephropathia epidemica) as different diagnosis of acute renal failure]. ( 11894176 )
2002
47
Increased glomerular permeability in patients with nephropathia epidemica caused by Puumala hantavirus. ( 11812874 )
2002
48
Renal ultrasound findings and their clinical associations in nephropathia epidemica. Analysis of quantitative parameters. ( 12100331 )
2002
49
Blurred vision as chief complaint in nephropathia epidemica. ( 11200877 )
2001
50
Evaluation of a pan-reactive hantavirus enzyme immunoassay and of a hantavirus immunoblot for the diagnosis of nephropathia epidemica. ( 11255099 )
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 11.44 B2M CD40LG CD79A GATA3
2 10.52 CD40LG CD79A

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 external side of plasma membrane GO:0009897 8.8 B2M CD40LG CD79A

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

# Name GO ID Score Top Affiliating Genes
1 digestive tract development GO:0048565 9.26 CYP1A1 GATA3
2 B cell proliferation GO:0042100 9.16 CD40LG CD79A
3 T cell differentiation in thymus GO:0033077 8.96 B2M GATA3
4 positive regulation of interleukin-4 production GO:0032753 8.62 CD40LG GATA3

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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