BFH
MCID: HMT008
MIFTS: 54

Hematuria, Benign Familial (BFH)

Categories: Genetic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Hematuria, Benign Familial

MalaCards integrated aliases for Hematuria, Benign Familial:

Name: Hematuria, Benign Familial 57 72 13 70
Benign Familial Hematuria 12 73 20 36 29 6 15
Thin Membrane Nephropathy 57 12 20 72
Thin Basement Membrane Nephropathy 12 20 72
Bfh 57 12 72
Tmn 57 12 72
Familial Benign Essential Hematuria 20
Thin-Basement-Membrane Nephropathy 57
Thin Membrane Nephropathy; Tmn 57
Thin Basement Membrane Disease 70
Familial Hematuric Nephritis 20
Benign Hereditary Nephritis 20
Hematuria, Benign, Familial 39
Hematuria, Familial Benign 57
Benign Essential Hematuria 20
Hematuria Benign Familial 54
Hematuria 44
Tbmn 20

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
nonprogressive
onset usually in childhood
does not result in renal failure

Inheritance:
autosomal dominant


HPO:

31
hematuria, benign familial:
Inheritance autosomal dominant inheritance
Onset and clinical course nonprogressive


Classifications:



External Ids:

Disease Ontology 12 DOID:0111365
OMIM® 57 141200
KEGG 36 H00582
MeSH 44 D006417
UMLS 70 C0241908 C0403440

Summaries for Hematuria, Benign Familial

OMIM® : 57 Benign familial hematuria is an autosomal dominant condition manifest as nonprogressive isolated microscopic hematuria that does not result in renal failure. It is characterized pathologically by thinning of the glomerular basement membrane (GBM), and can be considered the mildest end of the spectrum of renal diseases due to type IV collagen defects of the basement membrane. The most severe end of the spectrum is represented by Alport syndrome (301050; 203780, 104200), which results in end-stage renal failure and may be associated with hearing loss and ocular anomalies (review by Lemmink et al. (1996)). (141200) (Updated 20-May-2021)

MalaCards based summary : Hematuria, Benign Familial, also known as benign familial hematuria, is related to alport syndrome and alport syndrome 3, autosomal dominant. An important gene associated with Hematuria, Benign Familial is COL4A4 (Collagen Type IV Alpha 4 Chain), and among its related pathways/superpathways are Focal adhesion and ECM-receptor interaction. The drugs Polyestradiol phosphate and Estradiol have been mentioned in the context of this disorder. Affiliated tissues include kidney, prostate and heart, and related phenotypes are hematuria and thin glomerular basement membrane

Disease Ontology : 12 A urinary system disease characterized by the presence of blood in the urine, thinning of the glomerular basement membrane and normal renal function that has material basis in heterozygous mutation in COL4A3 or COL4A4 on chromosome 2q36.3.

KEGG : 36 Benign familial hematuria is an autosomal dominant disorder characterized by recurrent dysmorphic hematuria detected in childhood. The glomerular basement membrane is uniformly thin, but renal function is normal. Heterozygous mutations in COL4A3 or COL4A4 lead to reduced collagen network levels in the basement membrane.

UniProtKB/Swiss-Prot : 72 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.

Wikipedia : 73 Thin basement membrane disease (TBMD, also known as benign familial hematuria and thin basement membrane... more...

Related Diseases for Hematuria, Benign Familial

Diseases related to Hematuria, Benign Familial via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 655)
# Related Disease Score Top Affiliating Genes
1 alport syndrome 32.9 MFF-DT COL4A5 COL4A4 COL4A3 CFHR5
2 alport syndrome 3, autosomal dominant 32.1 MFF-DT COL4A4 COL4A3
3 familial nephrotic syndrome 31.8 COL4A5 COL4A4 COL4A3
4 proteinuria, chronic benign 31.8 MFF-DT LOC106501713 COL4A5 COL4A4 COL4A3 CLCNKB
5 x-linked alport syndrome 31.7 COL4A5 COL4A4 COL4A3
6 alport syndrome 2, autosomal recessive 31.6 MFF-DT COL4A4 COL4A3
7 glomerulonephritis 31.6 COL4A5 COL4A4 COL4A3 CFHR5
8 autosomal recessive alport syndrome 31.5 MFF-DT COL4A5 COL4A4 COL4A3
9 end stage renal disease 31.3 COL4A5 COL4A4 COL4A3 CFHR5
10 goodpasture syndrome 31.1 COL4A5 COL4A4 COL4A3
11 autosomal dominant alport syndrome 31.0 MFF-DT COL4A5 COL4A4 COL4A3 CFHR5
12 alport syndrome 1, x-linked 30.9 COL4A5 COL4A4
13 leiomyomatosis 30.1 KDM4C COL4A5 COL4A4 COL4A3
14 loin pain hematuria syndrome 11.4
15 angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 11.4
16 glomerulopathy with fibronectin deposits 2 11.1
17 coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation 11.1
18 hemorrhagic cystitis 11.1
19 c3 glomerulopathy 3 11.1
20 factor x deficiency 11.0
21 leiomyomatosis of esophagus, cataract and hematuria 11.0
22 iga nephropathy 1 11.0
23 wilms tumor 1 11.0
24 henoch-schoenlein purpura 11.0
25 schistosomiasis 10.9
26 adenine phosphoribosyltransferase deficiency 10.9
27 nephrotic syndrome, type 22 10.9
28 bladder small cell carcinoma 10.9
29 polycystic kidney disease 10.9
30 acquired hemophilia 10.9
31 nephrolithiasis, calcium oxalate 10.8
32 renal nutcracker syndrome 10.8
33 paroxysmal nocturnal hemoglobinuria 10.8
34 acquired hemophilia a 10.8
35 c3 glomerulopathy 10.8
36 cystinuria 10.8
37 hypouricemia, renal, 1 10.8
38 factor vii deficiency 10.8
39 iga nephropathy 3 10.8
40 primary hyperoxaluria 10.8
41 pelvic lipomatosis 10.8
42 rapidly progressive glomerulonephritis 10.8
43 dense deposit disease 10.8
44 glomerulopathy with fibronectin deposits 1 10.8
45 hypoparathyroidism, sensorineural deafness, and renal disease 10.8
46 focal segmental glomerulosclerosis 10 10.8
47 glanzmann thrombasthenia 1 10.8
48 xanthinuria, type i 10.8
49 dent disease 1 10.8
50 complement factor h deficiency 10.8

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



Diseases related to Hematuria, Benign Familial

Symptoms & Phenotypes for Hematuria, Benign Familial

Human phenotypes related to Hematuria, Benign Familial:

31
# Description HPO Frequency HPO Source Accession
1 hematuria 31 HP:0000790
2 thin glomerular basement membrane 31 HP:0012577

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Genitourinary Kidneys:
thin glomerular basement membrane
hematuria, microscopic

Clinical features from OMIM®:

141200 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Hematuria, Benign Familial:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.4 COL4A3 COL4A4 FOS GAL HAPLN1 HCRT

Drugs & Therapeutics for Hematuria, Benign Familial

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

(show top 50) (show all 65)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Polyestradiol phosphate Approved Phase 4 28014-46-2
2
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
3
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
4
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
5 Estradiol 3-benzoate Phase 4
6 Estradiol 17 beta-cypionate Phase 4
7 Hormones Phase 4
8 Hormone Antagonists Phase 4
9 Analgesics Phase 4
10 Estrogens Phase 4
11 Antirheumatic Agents Phase 4
12 Fibrinolytic Agents Phase 4
13 Anti-Inflammatory Agents Phase 4
14 Anti-Inflammatory Agents, Non-Steroidal Phase 4
15 Platelet Aggregation Inhibitors Phase 4
16 Cyclooxygenase Inhibitors Phase 4
17 Antipyretics Phase 4
18 Analgesics, Non-Narcotic Phase 4
19 Estrogens, Conjugated (USP) Phase 4
20
Isoproterenol Approved, Investigational Phase 2, Phase 3 7683-59-2 3779
21 Neurotransmitter Agents Phase 2, Phase 3
22 Adrenergic beta-Agonists Phase 2, Phase 3
23 Respiratory System Agents Phase 2, Phase 3
24 Cardiotonic Agents Phase 2, Phase 3
25 Adrenergic Agonists Phase 2, Phase 3
26 Anti-Asthmatic Agents Phase 2, Phase 3
27 Protective Agents Phase 2, Phase 3
28 Adrenergic Agents Phase 2, Phase 3
29 Sympathomimetics Phase 2, Phase 3
30 Bronchodilator Agents Phase 2, Phase 3
31
Diclofenac Approved, Vet_approved Phase 2 15307-86-5 3033
32
Tranexamic Acid Approved Phase 1, Phase 2 1197-18-8 5526
33
Finasteride Approved Phase 2 98319-26-7 57363
34 Antifibrinolytic Agents Phase 1, Phase 2
35 Coagulants Phase 1, Phase 2
36 Hemostatics Phase 1, Phase 2
37 5-alpha Reductase Inhibitors Phase 2
38
Valproic acid Approved, Investigational Early Phase 1 99-66-1 3121
39
Enalapril Approved, Vet_approved 75847-73-3 5362032 40466924
40
Enalaprilat Approved 76420-72-9 6917719
41
Praziquantel Approved, Investigational, Vet_approved 55268-74-1 4891
42
Nitrofurantoin Approved, Vet_approved 67-20-9 5353830
43
Ramipril Approved 87333-19-5 5362129
44
Spironolactone Approved 1952-01-7, 52-01-7 5833
45 Psychotropic Drugs Early Phase 1
46 Anticonvulsants Early Phase 1
47 Anesthetics
48 Antiparasitic Agents
49 Anthelmintics
50 Anti-Infective Agents

Interventional clinical trials:

(show all 43)
# Name Status NCT ID Phase Drugs
1 A Randomized Controlled Trial of Vaginal Estrogen to Treat Asymptomatic Microscopic Hematuria Unknown status NCT03033160 Phase 4 Estradiol Ring
2 The Effect of Preemptive Analgesia On The Comfort Of Patient and Doctor, in Cystoscopy Unknown status NCT03831321 Phase 4 Diclofenac Sodium;Lubricant Gel
3 Must Aspirin be Discontinued Prior to TURBT: a Prospective, Randomized, Non-inferiority Trial Comparing Peri-operative Aspirin Continuation Versus Discontinuation. Terminated NCT02350543 Phase 4 Aspirin
4 Effect of Vaginal Estrogen on Asymptomatic Microhematuria (AMH): A Randomized Controlled Trial [EVER Study] Terminated NCT02213757 Phase 4 Premarin vaginal estrogen cream;Placebo vaginal cream
5 Velcade for Proliferative Lupus Nephritis Withdrawn NCT01169857 Phase 4 Velcade
6 Pharmacological Modulation of the Intrarenal Pressure During Endourological Procedures in the Upper Urinary Tract Completed NCT00428428 Phase 2, Phase 3 Isoproterenol
7 Phase 2 Study of Diclofenac Suppository to Control Pain During Flexible Cystoscopy Completed NCT01812928 Phase 2 Diclofenac
8 Intravesical Antifibrinolytic for Patients With Hematuria and Clot Retention Not yet recruiting NCT04555343 Phase 1, Phase 2 Tranexamic acid
9 The Use of Finasteride to Reduce Hematuria and Hematospermia Following TRUS Prostate Biopsy Terminated NCT00600691 Phase 2 Finasteride
10 Urine Analysis in Different Types of Athletes Unknown status NCT00912834
11 Impact of Valproate on Angiogenesis and Histone Deacetylation in Bladder Cancer Unknown status NCT01738815 Early Phase 1 Valproic Acid
12 Study ¨PRECOCE Feasibility Study of Photovaporisation of Prostate With a Limitated Length of Catheterization of 3 Hours Unknown status NCT02401581
13 Multi Institutional Study To Evaluate Dna Methlyation Markers For Detection Of Primary Bladder Cancer In Urine Samples From A Cohort Of Patients With Hematuria Unknown status NCT03122964
14 A Multi-Center Study to Evaluate the Safety and Efficacy of a Urine DEK ELISA in Diagnosis of Subjects With Bladder Cancer Unknown status NCT01563796
15 Scanadu Urine Device Validation Study Protocol Unknown status NCT02973178
16 Indwelling Urinary Catheterization Versus Clean Intermittent Catheterization for the Short-term Management of Hospitalized Patients With Transient Acute Urinary Retention: A Prospective Randomized Trial Completed NCT02942641
17 Retrospective Study of Renal Biopsies Indications and Their Results in Patients With Type-2 Diabetes : a Multicenter Study Completed NCT04006028
18 Collagen Type 4-related Nephropathies: From Alport to Thin Membrane Nephropathy. A Series of Cases Treated With Angiotensin Converting Enzyme Inhibitor Completed NCT01465126
19 Value of an Integral Color Scale on Urine Collection Bags Versus Use of a Strip in Description of Hematuria. Completed NCT03408288
20 Aspirin and the Risk of Microscopic Hematuria in Asymptomatic Screened Population Completed NCT01615315
21 Role of Novel Urinary Genomic and Metablomic Markers in Diagnosis of Bladder Cancer in Patients With Hematuria Completed NCT04317261
22 Phase 3 Study of Hematuria Evaluation Completed NCT00975455
23 Diagnostic Relevance of Laser Confocal Microscopy During Reno-ureteroscopy in the Context of the Screening and Follow-up of Upper Urinary Tract Tumors Completed NCT02276924
24 The Influence of Transmission Season on Outcome of Schistosoma Haematobium Infection Treatment Among School Children in Urban and Peri-Urban Areas of Maputo and Matola, Mozambique Completed NCT00231322 praziquantel
25 Rigid Versus Flexible Cystoscopy in Women in Outpatient Clinic Completed NCT00214045
26 Cystoscopy in Females: Is There a Difference Between Rigid and Flex Cystoscopy, and Does it Require Local Anasthesia? Completed NCT03210038 Lidocaine;Water
27 Sexual Function in Patients Suspected of Non-muscle Invasive Bladder Cancer Completed NCT02381912
28 Evaluation of Immunological Disorders of T Lymphocytes and Endocrinological Disorders as Pathogen Factors in Patients With Metaplasia of Urinary Bladder Completed NCT02092558 Second-generation cephalosporin, nitrofurantoin, 1% aminoglycoside solution;cephalosporin with chemotherapeutics
29 Detecting Transitional Cell Carcinoma From Haematuria: A Study of Urinary Tissue Factor Completed NCT03256877
30 European Alport Therapy Registry - European Initiative Towards Delaying Renal Failure in Alport Syndrome: Current and Novel Therapies Recruiting NCT02378805 ACE-inhibitor;AT1-inhibitor;HMG-Coenzyme inhibitor (statin);Spironolactone;Paricalcitol
31 Prospective Evaluation of Blunt Renal Injury in Children Recruiting NCT00855036
32 Prospective Trial for Examining Hematuria Using Computed Tomography Recruiting NCT04077359
33 Prairie Renal Denervation Study: Renal Denervation (RDN) for Management of Patients With Loin Pain Hematuria Syndrome (LPHS) Recruiting NCT04332731
34 A Novel Multiplex ELISA Assay for Evaluating Patients With Microscopic Hematuria for Bladder Cancer Recruiting NCT03193541
35 A Novel Multiplex ELISA Assay for Evaluating Patients With Gross Hematuria for Bladder Cancer Recruiting NCT03193528
36 Use of a Multiplexed Molecular Biomarker Test Cxbladder, in Real World Decision Making to Provide Clinical Utility Using a Randomized Design Recruiting NCT03988309
37 A Randomized Control Trial of a Modified Cystoscopy Method to Reduce Pain Perception Recruiting NCT03257293
38 Optimizing Psychosocial Treatment of Interstitial Cystitis/Bladder Pain Syndrome Recruiting NCT04275297
39 Biomarker for Alport Syndrome: An International, Multicenter, Observational, Longitudinal Protocol Recruiting NCT02718027
40 (In Spanish, Spain) "Validación Clínica Mediante Estudio analítico Con Muestras de Orina Para Comparar la Eficacia y Seguridad de un Smart Device" Recruiting NCT03965975
41 Bladder Conservative Surgery in r Abnormally Invasive Placenta With Bladder Invasion With or Without Hematuria Active, not recruiting NCT04263753
42 Evaluation of Urine-DNA Testing for Detection of Urothelial Bladder Cancer in Patients With Gross Hematuria for Cystoscope. Enrolling by invitation NCT03066310
43 A Randomized Cross-over Study on Urethral Microtrauma After Intermittent Catheterization. Terminated NCT01600443

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:

# Genetic test Affiliating Genes
1 Benign Familial Hematuria 29 COL4A3 COL4A4

Anatomical Context for Hematuria, Benign Familial

MalaCards organs/tissues related to Hematuria, Benign Familial:

40
Kidney, Prostate, Heart, Bone, Liver, Placenta, Myeloid

Publications for Hematuria, Benign Familial

Articles related to Hematuria, Benign Familial:

(show top 50) (show all 62)
# Title Authors PMID Year
1
Benign familial hematuria due to mutation of the type IV collagen alpha4 gene. 57 6 54 61
8787673 1996
2
Mutations in theCOL4A4 and COL4A3 genes cause familial benign hematuria. 54 6 57
11961012 2002
3
The clinical spectrum of type IV collagen mutations. 6 54
9195222 1997
4
Benign familial hematuria. 61 57
3395216 1988
5
Glomerular basement membrane attenuation in familial nephritis and "benign" hematuria. 57 61
7108656 1982
6
Familial hematuria; clinico-pathological correlations. 61 57
7042145 1982
7
Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players. 6
33532864 2021
8
Alport's syndrome, Goodpasture's syndrome, and type IV collagen. 57
12815141 2003
9
Thin-basement-membrane nephropathy in adults with persistent hematuria. 57
2909874 1989
10
Abnormally thin glomerular basement membranes associated with hematuria, proteinuria or renal failure in adults. 57
3887920 1985
11
Familial benign essential hematuria. 57
4682986 1973
12
Familial and nonfamilal benign hematuria. 57
5949931 1966
13
BENIGN RECURRENT HEMATURIA. 57
14246067 1965
14
Essential hematuria in children--prognostic aspects. 57
13931055 1962
15
Congenital hereditary hematuria. 57
13194078 1954
16
A family with X-linked benign familial hematuria. 61 54
19937058 2010
17
Sixteen novel mutations identified in COL4A3, COL4A4, and COL4A5 genes in Slovenian families with Alport syndrome and benign familial hematuria. 54 61
17396119 2007
18
Type-IV collagen related diseases. 61 54
12768082 2003
19
COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome. 61 54
12028435 2002
20
Benign familial hematuria associated with a novel COL4A4 mutation. 54 61
11685592 2001
21
Next generation sequencing study in a cohort of Italian patients with syndromic hearing loss. 61
31387071 2019
22
Pathologic glomerular characteristics and glomerular basement membrane alterations in biopsy-proven thin basement membrane nephropathy. 61
30687875 2019
23
The COL4A3 and COL4A4 Digenic Mutations in cis Result in Benign Familial Hematuria in a Large Chinese Family. 61
29742505 2018
24
Frequent COL4 mutations in familial microhematuria accompanied by later-onset Alport nephropathy due to focal segmental glomerulosclerosis. 61
28632965 2017
25
A functional variant in NEPH3 gene confers high risk of renal failure in primary hematuric glomerulopathies. Evidence for predisposition to microalbuminuria in the general population. 61
28334007 2017
26
The ratios of urinary β2-microglobulin and NAG to creatinine vary with age in children. 61
25142083 2015
27
Improving mutation screening in familial hematuric nephropathies through next generation sequencing. 61
24854265 2014
28
A founder mutation in COL4A3 causes autosomal recessive Alport syndrome in the Ashkenazi Jewish population. 61
23927549 2014
29
Nephrotic-range proteinuria in an infant with thin basement membrane nephropathy. 61
28509291 2013
30
X-linked, COL4A5 hypomorphic Alport mutations such as G624D and P628L may only exhibit thin basement membrane nephropathy with microhematuria and late onset kidney failure. 61
24470729 2013
31
Hematuria and risk for end-stage kidney disease. 61
23449218 2013
32
From red to white urine: a patient's nightmare with a rather benign outcome. 61
22296661 2012
33
Do I hear what you hear? Two cases and discussion. 61
21888194 2011
34
Chronic renal failure and shortened lifespan in COL4A3+/- mice: an animal model for thin basement membrane nephropathy. 54
16775036 2006
35
Thin glomerular basement membrane nephropathy: incidence in 3471 consecutive renal biopsies examined by electron microscopy. 61
16683888 2006
36
Thin basement membrane nephropathy associated with minimal change disease in a 15-year-old boy. 61
16362391 2006
37
Persistent familial hematuria in children and the locus for thin basement membrane nephropathy. 61
16235097 2005
38
[From Alport syndrome to benign familial hematuria: clinical and genetic aspect]. 61
16895672 2005
39
Ultrastructural defects of the glomerular basement membranes associated with primary glomerular nephropathies. 61
15205110 2004
40
Autosomal recessive Alport's syndrome and benign familial hematuria are collagen type IV diseases. 61
14582039 2003
41
Alport syndrome and benign familial hematuria (thin basement membrane disease) in two brothers of a family with hematuria. 61
14524583 2003
42
Erythrocyte deformability and microhematuria in children and adolescents. 61
12579401 2003
43
Structure of the human type IV collagen gene COL4A3 and mutations in autosomal Alport syndrome. 54
11134255 2001
44
Evidence for genetic heterogeneity in benign familial hematuria. 61
10460935 1999
45
[Benign familial hematuria (thin basement membrane disease)]. 61
9277727 1997
46
Hereditary disorders of the glomerular basement membrane. 54
8971907 1996
47
Type IV collagen alpha 5 chain. Normal distribution and abnormalities in X-linked Alport syndrome revealed by monoclonal antibody. 61
8178947 1994
48
Benign familial hematuria: a clinical and histological study. 61
2282828 1990
49
[10 families with benign familial hematuria. Considerations on prevalence, genetics and clinical and urine characteristics]. 61
2601654 1989
50
Inherited defects of renal basement membranes. 61
2493725 1989

Variations for Hematuria, Benign Familial

ClinVar genetic disease variations for Hematuria, Benign Familial:

6 (show top 50) (show all 72)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 COL4A4 NM_000092.4(COL4A4):c.2878G>C (p.Gly960Arg) SNV Pathogenic 17411 rs769783985 GRCh37: 2:227917111-227917111
GRCh38: 2:227052395-227052395
2 COL4A4 NM_000092.5(COL4A4):c.71+1G>A SNV Pathogenic 627584 rs1559742015 GRCh37: 2:228012128-228012128
GRCh38: 2:227147412-227147412
3 MFF-DT , COL4A3 NM_000091.5(COL4A3):c.4235G>T (p.Gly1412Val) SNV Pathogenic 870362 GRCh37: 2:228169782-228169782
GRCh38: 2:227305066-227305066
4 COL4A4 NM_000092.4(COL4A4):c.3222dup (p.Gly1075fs) Duplication Pathogenic 17410 rs1559493506 GRCh37: 2:227912257-227912258
GRCh38: 2:227047541-227047542
5 COL4A4 NM_000092.4(COL4A4):c.2638del (p.Ala880fs) Deletion Pathogenic 550471 rs778043831 GRCh37: 2:227920739-227920739
GRCh38: 2:227056023-227056023
6 COL4A4 NM_000092.5(COL4A4):c.2377del (p.Ala793fs) Deletion Pathogenic 975097 GRCh37: 2:227924127-227924127
GRCh38: 2:227059411-227059411
7 COL4A4 NM_000092.4(COL4A4):c.2279dup (p.Asp761fs) Duplication Pathogenic 555669 rs1553643669 GRCh37: 2:227924224-227924225
GRCh38: 2:227059508-227059509
8 COL4A4 NM_000092.5(COL4A4):c.230G>C (p.Gly77Ala) SNV Pathogenic 975101 GRCh37: 2:227985827-227985827
GRCh38: 2:227121111-227121111
9 MFF-DT , COL4A3 NM_000091.4(COL4A3):c.2954G>T (p.Gly985Val) SNV Pathogenic 17490 rs121912827 GRCh37: 2:228153938-228153938
GRCh38: 2:227289222-227289222
10 MFF-DT , COL4A3 NM_000091.4(COL4A3):c.1855G>A (p.Gly619Arg) SNV Pathogenic 522482 rs773515249 GRCh37: 2:228137761-228137761
GRCh38: 2:227273045-227273045
11 COL4A4 NM_000092.5(COL4A4):c.2617G>A (p.Gly873Arg) SNV Pathogenic 970165 GRCh37: 2:227920760-227920760
GRCh38: 2:227056044-227056044
12 COL4A4 NM_000092.5(COL4A4):c.1921C>T (p.Arg641Ter) SNV Pathogenic 976760 GRCh37: 2:227942676-227942676
GRCh38: 2:227077960-227077960
13 MFF-DT , COL4A3 NM_000091.4(COL4A3):c.391G>T (p.Glu131Ter) SNV Pathogenic 558496 rs1346138010 GRCh37: 2:228111404-228111404
GRCh38: 2:227246688-227246688
14 MFF-DT , COL4A3 NM_000091.5(COL4A3):c.1822G>A (p.Gly608Arg) SNV Pathogenic 988253 GRCh37: 2:228137728-228137728
GRCh38: 2:227273012-227273012
15 MFF-DT , COL4A3 NM_000091.5(COL4A3):c.3044G>A SNV Pathogenic 17489 rs121912826 GRCh37: 2:228154778-228154778
GRCh38: 2:227290062-227290062
16 MFF-DT , COL4A3 NM_000091.5(COL4A3):c.2371C>T SNV Pathogenic 397514 rs1060499654 GRCh37: 2:228145303-228145303
GRCh38: 2:227280587-227280587
17 COL4A5 NM_033380.2(COL4A5):c.1424-2_1430delAGGTGACAA Deletion Pathogenic 523544 rs1556411578 GRCh37: X:107838737-107838745
GRCh38: X:108595507-108595515
18 MFF-DT , COL4A3 NM_000091.4(COL4A3):c.4441C>T (p.Arg1481Ter) SNV Pathogenic 17484 rs121912824 GRCh37: 2:228172614-228172614
GRCh38: 2:227307898-227307898
19 COL4A4 NM_000092.4(COL4A4):c.4129C>T (p.Arg1377Ter) SNV Pathogenic 17407 rs121912861 GRCh37: 2:227886851-227886851
GRCh38: 2:227022135-227022135
20 COL4A5 NM_033380.3(COL4A5):c.5048G>A (p.Arg1683Gln) SNV Pathogenic 10467 rs104886308 GRCh37: X:107939580-107939580
GRCh38: X:108696350-108696350
21 COL4A4 NM_000092.4(COL4A4):c.446G>T (p.Gly149Val) SNV Pathogenic 369941 rs374815903 GRCh37: 2:227983404-227983404
GRCh38: 2:227118688-227118688
22 MFF-DT , COL4A3 NM_000091.4(COL4A3):c.765+2T>C SNV Pathogenic 222051 rs869025326 GRCh37: 2:228118356-228118356
GRCh38: 2:227253640-227253640
23 COL4A4 NM_000092.4(COL4A4):c.1100-2A>C SNV Pathogenic 222056 rs869025329 GRCh37: 2:227963516-227963516
GRCh38: 2:227098800-227098800
24 MFF-DT , COL4A3 NM_000091.4(COL4A3):c.765G>T (p.Thr255=) SNV Pathogenic 222053 rs869025328 GRCh37: 2:228118354-228118354
GRCh38: 2:227253638-227253638
25 COL4A4 NM_000092.4(COL4A4):c.2986G>A (p.Gly996Arg) SNV Pathogenic 222055 rs370474706 GRCh37: 2:227915857-227915857
GRCh38: 2:227051141-227051141
26 MFF-DT , COL4A3 NM_000091.4(COL4A3):c.3410G>A (p.Gly1137Asp) SNV Pathogenic 222052 rs869025327 GRCh37: 2:228159278-228159278
GRCh38: 2:227294562-227294562
27 COL4A4 NM_000092.4(COL4A4):c.2690G>A (p.Gly897Glu) SNV Likely pathogenic 17406 rs121912860 GRCh37: 2:227920687-227920687
GRCh38: 2:227055971-227055971
28 MFF-DT , COL4A3 NM_000091.4(COL4A3):c.3257G>A (p.Gly1086Glu) SNV Likely pathogenic 638006 rs1574813350 GRCh37: 2:228157953-228157953
GRCh38: 2:227293237-227293237
29 COL4A4 NM_000092.5(COL4A4):c.1970G>A (p.Gly657Asp) SNV Likely pathogenic 975093 GRCh37: 2:227942627-227942627
GRCh38: 2:227077911-227077911
30 COL4A5 NM_033380.3(COL4A5):c.4906dup (p.Ile1636fs) Duplication Likely pathogenic 523548 rs1556463583 GRCh37: X:107938580-107938581
GRCh38: X:108695350-108695351
31 COL4A4 NM_000092.4(COL4A4):c.81_86del (p.27_28IL[1]) Deletion Likely pathogenic 369962 rs771943519 GRCh37: 2:228009260-228009265
GRCh38: 2:227144544-227144549
32 COL4A5 NM_033380.3(COL4A5):c.1397G>A (p.Gly466Glu) SNV Likely pathogenic 24406 rs104886114 GRCh37: X:107834848-107834848
GRCh38: X:108591618-108591618
33 LOC106501713 , CLCNKB NM_000085.4(CLCNKB):c.937_940dup (p.Arg314delinsLysTer) Duplication Likely pathogenic 523321 rs779593707 GRCh37: 1:16376379-16376380
GRCh38: 1:16049884-16049885
34 COL4A4 NM_000092.5(COL4A4):c.2320G>C SNV Likely pathogenic 242442 rs569681869 GRCh37: 2:227924184-227924184
GRCh38: 2:227059468-227059468
35 COL4A4 NM_000092.4(COL4A4):c.4394G>A (p.Gly1465Asp) SNV Likely pathogenic 523324 rs533297350 GRCh37: 2:227875157-227875157
GRCh38: 2:227010441-227010441
36 MFF-DT , COL4A3 NM_000091.5(COL4A3):c.4045G>A (p.Gly1349Ser) SNV Likely pathogenic 862824 GRCh37: 2:228168752-228168752
GRCh38: 2:227304036-227304036
37 COL4A4 NM_000092.5(COL4A4):c.193G>A (p.Gly65Ser) SNV Likely pathogenic 974513 GRCh37: 2:227985864-227985864
GRCh38: 2:227121148-227121148
38 MFF-DT , COL4A3 NM_000091.5(COL4A3):c.2021G>T (p.Gly674Val) SNV Likely pathogenic 988107 GRCh37: 2:228142165-228142165
GRCh38: 2:227277449-227277449
39 MFF-DT , COL4A3 NM_000091.4(COL4A3):c.2323_2340del (p.772_774LPG[1]) Deletion Likely pathogenic 556542 rs1306992119 GRCh37: 2:228145246-228145263
GRCh38: 2:227280530-227280547
40 COL4A4 NM_000092.5(COL4A4):c.3593_3594del (p.Gly1198fs) Deletion Likely pathogenic 988150 GRCh37: 2:227896976-227896977
GRCh38: 2:227032260-227032261
41 COL4A4 NM_000092.5(COL4A4):c.3408del (p.Met1137fs) Deletion Likely pathogenic 988151 GRCh37: 2:227906961-227906961
GRCh38: 2:227042245-227042245
42 MFF-DT , COL4A3 NM_000091.4(COL4A3):c.361G>A (p.Gly121Ser) SNV Likely pathogenic 522453 rs778886174 GRCh37: 2:228110706-228110706
GRCh38: 2:227245990-227245990
43 COL4A4 NM_000092.5(COL4A4):c.718G>C (p.Gly240Arg) SNV Likely pathogenic 992427 GRCh37: 2:227973314-227973314
GRCh38: 2:227108598-227108598
44 MFF-DT , COL4A3 NM_000091.4(COL4A3):c.1372G>C (p.Gly458Arg) SNV Likely pathogenic 447166 rs757341933 GRCh37: 2:228131189-228131189
GRCh38: 2:227266473-227266473
45 COL4A4 NM_000092.4(COL4A4):c.1108G>A (p.Gly370Arg) SNV Likely pathogenic 562328 rs1559617617 GRCh37: 2:227963506-227963506
GRCh38: 2:227098790-227098790
46 MFF-DT , COL4A3 NM_000091.4(COL4A3):c.833dup (p.Pro279fs) Duplication Likely pathogenic 225321 rs1363680371 GRCh37: 2:228119375-228119376
GRCh38: 2:227254659-227254660
47 COL4A4 NM_000092.5(COL4A4):c.1192_1195dup (p.Ala399fs) Duplication Likely pathogenic 870357 GRCh37: 2:227963418-227963419
GRCh38: 2:227098702-227098703
48 MFF-DT , COL4A3 NM_000091.5(COL4A3):c.2207G>T (p.Gly736Val) SNV Likely pathogenic 870361 GRCh37: 2:228144590-228144590
GRCh38: 2:227279874-227279874
49 COL4A4 NM_000092.5(COL4A4):c.1580del (p.Gly527fs) Deletion Likely pathogenic 870358 GRCh37: 2:227953412-227953412
GRCh38: 2:227088696-227088696
50 MFF-DT , COL4A3 NM_000091.5(COL4A3):c.647G>T (p.Gly216Val) SNV Likely pathogenic 972684 GRCh37: 2:228118013-228118013
GRCh38: 2:227253297-227253297

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

72
# 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 rs155369623
5 COL4A4 p.Gly960Arg VAR_031624 rs769783985
6 COL4A4 p.Gly999Glu VAR_031625 rs13027659
7 COL4A4 p.Pro1132Leu VAR_031626

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 KEGG:

36
# Name Kegg Source Accession
1 Focal adhesion hsa04510
2 ECM-receptor interaction hsa04512

GO Terms for Hematuria, Benign Familial

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

# Name GO ID Score Top Affiliating Genes
1 collagen-containing extracellular matrix GO:0062023 9.67 HAPLN1 COL4A5 COL4A4 COL4A3
2 extracellular matrix GO:0031012 9.62 HAPLN1 COL4A5 COL4A4 COL4A3
3 synapse GO:0045202 9.5 SLC32A1 HRH3 HRH1 HCRTR2 HCRTR1 HCRT
4 basement membrane GO:0005604 9.43 COL4A5 COL4A4 COL4A3
5 collagen trimer GO:0005581 9.33 COL4A5 COL4A4 COL4A3
6 collagen type IV trimer GO:0005587 8.8 COL4A5 COL4A4 COL4A3

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.73 HAPLN1 COL4A5 COL4A4 COL4A3
2 response to immobilization stress GO:0035902 9.46 GAL FOS
3 neuropeptide signaling pathway GO:0007218 9.46 HCRTR2 HCRTR1 HCRT GAL
4 phospholipase C-activating G protein-coupled receptor signaling pathway GO:0007200 9.43 HRH1 HCRTR2 HCRT
5 collagen-activated tyrosine kinase receptor signaling pathway GO:0038063 9.4 COL4A5 COL4A3
6 sleep GO:0030431 9.37 HCRT FOS
7 chemical synaptic transmission GO:0007268 9.35 HRH3 HRH1 HCRTR2 HCRTR1 HCRT
8 glomerular basement membrane development GO:0032836 9.32 COL4A4 COL4A3
9 feeding behavior GO:0007631 8.92 HCRTR2 HCRTR1 HCRT GAL

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 9.43 COL4A5 COL4A4 COL4A3
2 histamine receptor activity GO:0004969 9.16 HRH3 HRH1
3 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.13 COL4A5 COL4A4 COL4A3
4 orexin receptor activity GO:0016499 8.62 HCRTR2 HCRTR1

Sources for Hematuria, Benign Familial

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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