BFH
MCID: HMT008
MIFTS: 42

Hematuria, Benign Familial (BFH) malady

Categories: Genetic diseases, Rare diseases, Nephrological diseases

Aliases & Classifications for Hematuria, Benign Familial

Aliases & Descriptions for Hematuria, Benign Familial:

Name: Hematuria, Benign Familial 54 66 13 69
Thin Basement Membrane Nephropathy 50 66
Benign Familial Hematuria 50 29
Thin Membrane Nephropathy 50 66
Familial Benign Essential Hematuria 50
Thin Basement Membrane Disease 69
Familial Hematuric Nephritis 50
Benign Hereditary Nephritis 50
Benign Essential Hematuria 50
Hematuria, Familial Benign 13
Hematuria Benign Familial 52
Hematuria 42
Tbmn 50
Tmn 66
Bfh 66

Characteristics:

HPO:

32
hematuria, benign familial:
Inheritance autosomal dominant inheritance
Onset and clinical course nonprogressive


Classifications:



External Ids:

OMIM 54 141200
MeSH 42 D006417

Summaries for Hematuria, Benign Familial

OMIM : 54 Benign familial hematuria is an autosomal dominant condition manifest as nonprogressive isolated microscopic hematuria... (141200) more...

MalaCards based summary : Hematuria, Benign Familial, also known as thin basement membrane nephropathy, is related to alport syndrome and thin basement membrane nephropathy and loin pain hematuria syndrome, and has symptoms including hematuria and thin glomerular basement membrane. An important gene associated with Hematuria, Benign Familial is COL4A3 (Collagen Type IV Alpha 3 Chain), and among its related pathways/superpathways are Developmental Biology and Integrin Pathway. The drugs Ciprofloxacin and Fentanyl have been mentioned in the context of this disorder. Related phenotypes are renal/urinary system and vision/eye

UniProtKB/Swiss-Prot : 66 Hematuria, benign familial: An autosomal dominant condition characterized by non-progressive isolated microscopic hematuria that does not result in renal failure. It is characterized pathologically by thinning of the glomerular basement membrane.

Related Diseases for Hematuria, Benign Familial

Graphical network of the top 20 diseases related to Hematuria, Benign Familial:



Diseases related to Hematuria, Benign Familial

Symptoms & Phenotypes for Hematuria, Benign Familial

Symptoms by clinical synopsis from OMIM:

141200

Clinical features from OMIM:

141200

Human phenotypes related to Hematuria, Benign Familial:

32
id Description HPO Frequency HPO Source Accession
1 hematuria 32 HP:0000790
2 thin glomerular basement membrane 32 HP:0012577

MGI Mouse Phenotypes related to Hematuria, Benign Familial:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 9.13 COL4A3 COL4A4 COL4A5
2 vision/eye MP:0005391 8.8 COL4A3 COL4A4 COL4A5

Drugs & Therapeutics for Hematuria, Benign Familial

Drugs for Hematuria, Benign Familial (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 277)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ciprofloxacin Approved, Investigational Phase 4,Phase 2 85721-33-1 2764
2
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4,Phase 1 437-38-7 3345
3
Cyclosporine Approved, Investigational, Vet_approved Phase 4 79217-60-0, 59865-13-3 5284373 6435893
4
Methylprednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2 83-43-2 6741
5
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 2 22916-47-8 4189
6
Prednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2 50-24-8 5755
7
Prednisone Approved, Vet_approved Phase 4,Phase 2 53-03-2 5865
8
Fosfomycin Approved Phase 4 23155-02-4 446987
9
Tamsulosin Approved, Investigational Phase 4,Phase 3 106133-20-4 129211
10
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
11
Bortezomib Approved, Investigational Phase 4,Phase 1 179324-69-7 387447 93860
12
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757 53477783
13
Acetaminophen Approved Phase 4 103-90-2 1983
14
Mirabegron Approved Phase 4 223673-61-8
15
Ibuprofen Approved Phase 4 15687-27-1 3672
16
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
17 Anti-Infective Agents Phase 4,Phase 2,Phase 3,Phase 1
18 Cytochrome P-450 Enzyme Inhibitors Phase 4,Phase 2,Phase 1
19 Anesthetics Phase 4,Phase 1
20 Central Nervous System Depressants Phase 4,Phase 1,Early Phase 1
21 Gastrointestinal Agents Phase 4,Phase 2,Phase 3,Phase 1
22 Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1
23 Hormones Phase 4,Phase 3,Phase 2,Phase 1
24 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1
25 Neurotransmitter Agents Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
26 Anti-Bacterial Agents Phase 4,Phase 2,Phase 1
27 Cytochrome P-450 CYP1A2 Inhibitors Phase 4,Phase 2
28 Topoisomerase Inhibitors Phase 4,Phase 2
29 Coagulants Phase 4
30 Factor VIII Phase 4
31 Hemostatics Phase 4
32 Thrombin Phase 4
33 Adjuvants, Anesthesia Phase 4,Phase 1
34 Analgesics Phase 4,Phase 2,Phase 1
35 Analgesics, Opioid Phase 4,Phase 1
36 Anesthetics, General Phase 4,Phase 1
37 Anesthetics, Intravenous Phase 4,Phase 1
38 Narcotics Phase 4,Phase 1
39 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 3,Phase 1
40 Antiemetics Phase 4,Phase 2,Phase 3,Phase 1
41 Antifungal Agents Phase 4,Phase 2
42 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 2,Phase 1
43 Antineoplastic Agents, Hormonal Phase 4,Phase 3,Phase 2,Phase 1
44 Antirheumatic Agents Phase 4,Phase 3,Phase 2
45 Autonomic Agents Phase 4,Phase 2,Phase 3,Phase 1
46 Calcineurin Inhibitors Phase 4,Phase 3
47 Dermatologic Agents Phase 4
48 glucocorticoids Phase 4,Phase 3,Phase 2,Phase 1
49 Immunosuppressive Agents Phase 4,Phase 3,Phase 2,Phase 1
50 Methylprednisolone acetate Phase 4,Phase 3,Phase 2

Interventional clinical trials:

(show top 50) (show all 149)
id Name Status NCT ID Phase
1 Cipro® XR in Therapeutic Response and Activity (eXtRa) - Assessing Symptom Relief in Urinary Tract Infections Completed NCT00676533 Phase 4
2 Combination Therapy of Low Doses of rFVIIa and FEIBA for Severe Hemophilia A Patients With an Inhibitor to Factor VIII Completed NCT00284193 Phase 4
3 Intranasal Fentanyl as an Analgesic for Cystoscopic Procedures Completed NCT01708122 Phase 4
4 HSP-glomerulonephritis Trial: MP vs CyA Completed NCT00425724 Phase 4
5 A Long-Term Study Examining the Treatment of Benign Prostatic Hyperplasia With Photoselective Vaporization Completed NCT00465101 Phase 4
6 Efficacy Study of Prophylaxis With Fosfomycin Versus Ciprofloxacin Prior Prostate Biopsy Completed NCT01803191 Phase 4
7 Vaginal Estrogen for Asymptomatic Microscopic Hematuria Recruiting NCT03033160 Phase 4
8 Effect of Vaginal Estrogen on Asymptomatic Microhematuria (AMH) Recruiting NCT02213757 Phase 4
9 Ureteral Stent-related Pain and Mirabegron (SPAM) Trial Recruiting NCT02095665 Phase 4
10 Peri-operative Aspirin Continuation Versus Discontinuation Enrolling by invitation NCT02350543 Phase 4
11 Ketorolac Versus Ibuprofen to Treat Painful Episodes of Sickle Cell Disease Terminated NCT00115336 Phase 4
12 Velcade for Proliferative Lupus Nephritis Withdrawn NCT01169857 Phase 4
13 Comparison of Infant Pain Responses Between Two Different Methods of Urine Collection Unknown status NCT00298584 Phase 3
14 Pharmacological Modulation of the Intrarenal Pressure During Endourological Procedures in the Upper Urinary Tract Completed NCT00428428 Phase 2, Phase 3
15 Comparing Praziquantel Versus Artesunate + Sulfamethoxypyrazine/Pyrimethamine for Treating Schistosomiasis Completed NCT00510159 Phase 2, Phase 3
16 Phase 3 Study of Tacrolimus (FK506) for Lupus Nephritis: A Placebo Controlled, Double-Blind Multicenter, Comparative Study Completed NCT00429377 Phase 3
17 Benign Prostatic Hyperplasia Trial With Dutasteride And Tamsulosin Combination Treatment Completed NCT00090103 Phase 3
18 "REDUCE" - A Clinical Research Study To Reduce The Incidence Of Prostate Cancer In Men Who Are At Increased Risk Completed NCT00056407 Phase 3
19 Pilot Study of ACTH in the Treatment of IgA Nephropathy at High Risk of Progression Recruiting NCT02282930 Phase 3
20 Cyclophosphamide for Acute Exacerbation of Idiopathic Pulmonary Fibrosis Recruiting NCT02460588 Phase 3
21 Validity and Security of Reh-acteoside Therapy for Patients of IgA Nephropathy Not yet recruiting NCT02662283 Phase 2, Phase 3
22 A Double Blind Randomized Study Using Placenta Derived Decidual Stromal Cells for Hemorrhagic Cystitis Unknown status NCT02174536 Phase 2
23 Diclofenac Suppository to Control Pain During Flexible Cystoscopy Completed NCT01812928 Phase 2
24 Sirolimus Therapy for Poor Prognosis Immunoglobulin A Nephropathy Completed NCT00396721 Phase 2
25 Efficacy and Safety of Activated Recombinant Human Factor VII in Refractory Haemorrhagic Cystitis Completed NCT01561352 Phase 2
26 Intravesical Epirubicin Plus BCG to Prevent the Recurrence of Transitional Cell Carcinoma of Bladder Completed NCT00343356 Phase 2
27 Clinical Trial to Evaluate Safety and Efficacy of CCX168 in ANCA-Associated Vasculitis Completed NCT02222155 Phase 2
28 Phase II Study on Gusperimus in Patients With Refractory Wegener's Granulomatosis Completed NCT00530075 Phase 2
29 A Study of Invirase (Saquinavir)/Ritonavir in HIV-Infected Infants and Children. Completed NCT00623597 Phase 2
30 A Pilot Study Using Placenta Derived Decidual Stromal Cells for Hemorrhagic Cystitis Completed NCT02172963 Phase 1, Phase 2
31 Bosutinib For Autosomal Dominant Polycystic Kidney Disease Completed NCT01233869 Phase 2
32 Clinical Interest of the Temporary Urethral Stent Allium " Bulbar Urethral Stent " in the Treatment of Detrusor Sphincter Dyssynergia Completed NCT02323243 Phase 1, Phase 2
33 Use of Low Dose Pioglitazone to Treat Autosomal Dominant Polycystic Kidney Disease Recruiting NCT02697617 Phase 2
34 BK Specific Cytotoxic T Lymphocytes (CTL) Lines for Stem Cell Transplant (SCT) Recipients Recruiting NCT02479698 Phase 2
35 The Research of Standard Diagnosis and Treatment for HSPN With Mild Proteinuria in Children Recruiting NCT02532790 Phase 2
36 The Research of Standard Diagnosis and Treatment for HSPN in Children Recruiting NCT02532777 Phase 2
37 Role Of Phosphorus And FGF 23 In Patients With Dent Disease Recruiting NCT02016235 Phase 1, Phase 2
38 An Open-Label Phase II Study to Evaluate the Efficacy and Safety of IdeS in Anti-GBM Disease (GOOD-IDES) Recruiting NCT03157037 Phase 2
39 Inhaled Tissue Plasminogen Activator for Acute Plastic Bronchitis Not yet recruiting NCT02315898 Phase 2
40 The Use of Finasteride to Reduce Hematuria and Hematospermia Following TRUS Prostate Biopsy Terminated NCT00600691 Phase 2
41 Ciprofloxacin Compared to Placebo in Diagnosing Prostate Cancer in Patients Undergoing Prostate Biopsy Withdrawn NCT02252978 Phase 2
42 A Study to Investigate Belimumab for the Treatment of Chronic Immune Thrombocytopenia. Withdrawn NCT01440361 Phase 2
43 Pilot Study of the Safety of a Daily Ethanol Lock for Urinary Catheters in Critically Ill Children Completed NCT01865708 Phase 1
44 Intranasal Fentanyl for Management of Pain Associated With Cystoscopic Procedures Completed NCT01756651 Phase 1
45 Influence of Clopidogrel on the Pharmacodynamics and Safety of Terbogrel in Healthy Male Subjects Completed NCT02222987 Phase 1
46 Anti-CXCR4 (BMS-936564) Alone and in Combination With Lenalidomide/Dexamethasone or Bortezomib/Dexamethasone in Relapsed/Refractory Multiple Myeloma Completed NCT01359657 Phase 1
47 Pharmacokinetics & Pharmacodynamics of Diethylcarbamazine (DEC)+ Albendazole (ALB) + Ivermectin (IVE) Active, not recruiting NCT02845713 Phase 1
48 Most Closely Human Leukocyte Antigen (HLA)-Matched BK Virus-specific T Lymphocytes (Viralym-B) Not yet recruiting NCT02313844 Phase 1
49 Pharmacokinetic Study of E7080/Lenvatinib in Chinese Subjects With Solid Tumor Not yet recruiting NCT03009292 Phase 1
50 Clinical Study Evaluating Safety of a New Catheter for Urinary Intermittent Catheter in Healthy Volunteers Withdrawn NCT01292941 Phase 1

Search NIH Clinical Center for Hematuria, Benign Familial

Cochrane evidence based reviews: hematuria

Genetic Tests for Hematuria, Benign Familial

Genetic tests related to Hematuria, Benign Familial:

id Genetic test Affiliating Genes
1 Benign Familial Hematuria 29

Anatomical Context for Hematuria, Benign Familial

Publications for Hematuria, Benign Familial

Variations for Hematuria, Benign Familial

UniProtKB/Swiss-Prot genetic disease variations for Hematuria, Benign Familial:

66
id Symbol AA change Variation ID SNP ID
1 COL4A3 p.Gly985Val VAR_030948 rs121912827
2 COL4A3 p.Gly1015Glu VAR_030949 rs121912826
3 COL4A4 p.Gly897Glu VAR_001912 rs121912860
4 COL4A4 p.Gly116Glu VAR_031623
5 COL4A4 p.Gly960Arg VAR_031624 rs769783985
6 COL4A4 p.Gly999Glu VAR_031625 rs13027659
7 COL4A4 p.Pro1132Leu VAR_031626

ClinVar genetic disease variations for Hematuria, Benign Familial:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 COL4A4 NM_000092.4(COL4A4): c.2690G> A (p.Gly897Glu) single nucleotide variant Pathogenic rs121912860 GRCh37 Chromosome 2, 227920687: 227920687
2 COL4A4 COL4A4, 1-BP INS, 3222A insertion Pathogenic
3 COL4A4 COL4A4, GLY960ARG undetermined variant Pathogenic
4 COL4A3 NM_000091.4(COL4A3): c.3044G> A (p.Gly1015Glu) single nucleotide variant Pathogenic rs121912826 GRCh37 Chromosome 2, 228154778: 228154778
5 COL4A4 NM_000092.4(COL4A4): c.2986G> A (p.Gly996Arg) single nucleotide variant Pathogenic rs370474706 GRCh37 Chromosome 2, 227915857: 227915857
6 COL4A4 NM_000092.4(COL4A4): c.1100-2A> C single nucleotide variant Pathogenic rs869025329 GRCh37 Chromosome 2, 227963516: 227963516
7 COL4A3 NM_000091.4(COL4A3): c.765G> T (p.Thr255=) single nucleotide variant Pathogenic rs869025328 GRCh37 Chromosome 2, 228118354: 228118354
8 COL4A3 NM_000091.4(COL4A3): c.765+2T> C single nucleotide variant Pathogenic rs869025326 GRCh37 Chromosome 2, 228118356: 228118356
9 COL4A3 NM_000091.4(COL4A3): c.3410G> A (p.Gly1137Asp) single nucleotide variant Pathogenic rs869025327 GRCh37 Chromosome 2, 228159278: 228159278

Expression for Hematuria, Benign Familial

Search GEO for disease gene expression data for Hematuria, Benign Familial.

Pathways for Hematuria, Benign Familial

Pathways related to Hematuria, Benign Familial according to GeneCards Suite gene sharing:

(show all 18)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.96 COL4A3 COL4A4 COL4A5
2
Show member pathways
12.88 COL4A3 COL4A4 COL4A5
3
Show member pathways
12.62 COL4A3 COL4A4 COL4A5
4
Show member pathways
12.49 COL4A3 COL4A4 COL4A5
5
Show member pathways
12.43 COL4A3 COL4A4 COL4A5
6
Show member pathways
12.35 COL4A3 COL4A4 COL4A5
7 12.27 COL4A3 COL4A4 COL4A5
8
Show member pathways
12.24 COL4A3 COL4A4 COL4A5
9 12.19 COL4A3 COL4A4 COL4A5
10
Show member pathways
11.81 COL4A3 COL4A4 COL4A5
11 11.6 COL4A3 COL4A4 COL4A5
12 11.56 COL4A3 COL4A4 COL4A5
13 11.47 COL4A3 COL4A4 COL4A5
14 11.37 COL4A3 COL4A4 COL4A5
15 11.22 COL4A3 COL4A4 COL4A5
16 11.02 COL4A3 COL4A4 COL4A5
17 10.73 COL4A3 COL4A4 COL4A5
18 10.37 COL4A3 COL4A4 COL4A5

GO Terms for Hematuria, Benign Familial

Cellular components related to Hematuria, Benign Familial according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 proteinaceous extracellular matrix GO:0005578 9.54 COL4A3 COL4A4 COL4A5
2 endoplasmic reticulum lumen GO:0005788 9.5 COL4A3 COL4A4 COL4A5
3 collagen trimer GO:0005581 9.33 COL4A3 COL4A4 COL4A5
4 basal lamina GO:0005605 9.26 COL4A4 COL4A5
5 basement membrane GO:0005604 9.13 COL4A3 COL4A4 COL4A5
6 collagen type IV trimer GO:0005587 8.8 COL4A3 COL4A4 COL4A5

Biological processes related to Hematuria, Benign Familial according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.43 COL4A3 COL4A4 COL4A5
2 collagen-activated tyrosine kinase receptor signaling pathway GO:0038063 9.16 COL4A3 COL4A5
3 glomerular basement membrane development GO:0032836 8.96 COL4A3 COL4A4
4 collagen catabolic process GO:0030574 8.8 COL4A3 COL4A4 COL4A5

Molecular functions related to Hematuria, Benign Familial according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 8.8 COL4A3 COL4A4 COL4A5

Sources for Hematuria, Benign Familial

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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