MCID: HMT008
MIFTS: 32

Hematuria, Benign Familial malady

Genetic diseases, Rare diseases, Nephrological diseases categories

Aliases & Classifications for Hematuria, Benign Familial

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Aliases & Descriptions for Hematuria, Benign Familial:

Name: Hematuria, Benign Familial 49 11 65 67
Thin Basement Membrane Nephropathy 45 67
Thin Membrane Nephropathy 45 67
Familial Benign Essential Hematuria 45
Thin Basement Membrane Disease 65
Familial Hematuric Nephritis 45
Benign Hereditary Nephritis 45
 
Hematuria, Familial Benign 11
Benign Essential Hematuria 45
Benign Familial Hematuria 45
Hematuria Benign Familial 47
Tbmn 45
Tmn 67
Bfh 67


Classifications:



External Ids:

OMIM49 141200
MeSH36 D006417

Summaries for Hematuria, Benign Familial

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OMIM:49 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, autosomal dominant and alport syndrome, autosomal recessive, and has symptoms including autosomal dominant inheritance, hematuria and nonprogressive. An important gene associated with Hematuria, Benign Familial is COL4A3 (Collagen, Type IV, Alpha 3 (Goodpasture Antigen)), and among its related pathways are Integrin cell surface interactions and Pathways in cancer. Related mouse phenotype renal/urinary system.

UniProtKB/Swiss-Prot:67 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

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

(show all 47)
idRelated DiseaseScoreTop Affiliating Genes
1alport syndrome, autosomal dominant29.9COL4A3, COL4A4
2alport syndrome, autosomal recessive29.7COL4A3, COL4A4, COL4A5
3membranous nephropathy11.2
4alport syndrome and thin basement membrane nephropathy10.9
5alport syndrome10.9
6focal segmental glomerulosclerosis10.6
7glomerulosclerosis10.6
8glomerular disease10.5
9glomerulonephritis10.4
10nephrolithiasis10.4
11iga glomerulonephritis10.4
12carotid artery dissection10.4
13cerebritis10.4
14aortitis10.4
15aneurysm10.4
16cerebral aneurysms10.4
17urinary system disease10.2
18basement membrane disease10.2
19osteoarthritis-510.1
20osteoarthritis10.1
21hip luxation10.1
22esophageal cancer10.0
23bladder disease10.0
24female stress incontinence10.0
25muscle disorders10.0
26urethral syndrome10.0
27hypoactive sexual desire disorder10.0
28lipoid nephrosis10.0
29esophagitis10.0
30impotence10.0
31male reproductive system disease10.0
32muscle tissue disease10.0
33myopathy10.0
34penile disease10.0
35sexual disorder10.0
36spinal cord disease10.0
37male genital disorders10.0
38ataxia with vitamin e deficiency9.7COL4A3, COL4A4, COL4A5
39hematuria, benign familial9.7COL4A3, COL4A4, COL4A5
40basilar migraine9.6COL4A3, COL4A4, COL4A5
41tuberculous peritonitis9.6COL4A3, COL4A4, COL4A5
42leiomyosarcoma9.6COL4A3, COL4A4, COL4A5
43deafness, x-linked 69.6COL4A3, COL4A4, COL4A5
44glycogen storage disease9.6COL4A3, COL4A4, COL4A5
45benign breast adenomyoepithelioma9.6COL4A3, COL4A4, COL4A5
46b cell deficiency9.5COL4A3, COL4A4, COL4A5
47autosomal recessive disease9.4COL4A3, COL4A4, COL4A5

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



Diseases related to hematuria, benign familial

Symptoms for Hematuria, Benign Familial

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Symptoms by clinical synopsis from OMIM:

141200

Clinical features from OMIM:

141200

HPO human phenotypes related to Hematuria, Benign Familial:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 hematuria HP:0000790
3 nonprogressive HP:0003680
4 thin glomerular basement membrane HP:0012577

Drugs & Therapeutics for Hematuria, Benign Familial

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Spironolactoneapproved1571952-01-7, 52-01-75833
Synonyms:
4-18-00-01601 (Beilstein Handbook Reference)
4-Pregnen-21-oic acid-17alpha-ol-3-one-7alpha-thiol gamma-lactone 7-acetate
496916-40-6
52-01-7
7-alpha-Acetylthio-3-oxo-17-alpha-pregn-4-ene-21,17-beta-carbolactone
7alpha-(acetylsulfanyl)-3-oxo-17alpha-pregn-4-ene-21,17-carbolactone
AB00513806
AC-4214
AC1L1L8Q
Abbolactone
Acelat
Aldace
Aldactazide
Aldactide
Aldactone
Aldactone (TN)
Aldactone A
Alderon
Aldopur
Almatol
Alphapharm Brand of Spironolactone
Alpharma Brand of Spironolactone
Alter Brand of Spironolactone
Altex
Aquareduct
Ashbourne Brand of Spironolactone
Azupharma Brand of Spironolactone
BIDD:PXR0071
BPBio1_000194
BRD-K90027355-001-03-4
BRN 0057767
BSPBio_000176
C07310
C24H32O4S
CHEBI:428201
CHEBI:45692
CHEBI:9241
CHEMBL1393
CID5833
CPD000471892
Cardel Brand of Spironolactone
D00443
D013148
DB00421
Deverol
Dexo Brand of Spironolactone
Diatensec
Dira
Duraspiron
EINECS 200-133-6
Espironolactona
Espironolactona Alter
Espironolactona Mundogen
Espironolactona [INN-Spanish]
Euteberol
Flumach
Frumikal
Generosan Brand of Spironolactone
HMS1568I18
HMS2090N21
HSDB 3184
Hormosan Brand of Spironolactone
I06-1970
Jenapharm Brand of Spironolactone
Jenaspiron
LS-118614
LT00772287
Lacalmin
Lacdene
Laractone
MLS001074672
MLS001333253
MLS001333254
MLS002153245
MLS002207058
Mayoly-Spindler Brand of Spironolactone
Melarcon
Merck dura Brand of Spironolactone
Mundogen Brand of Spironolactone
NCGC00164397-01
 
NCGC00164397-02
NSC 150399
NSC150399
Nefurofan
Novo Spiroton
Novo-Spiroton
NovoSpiroton
Novopharm Brand of Spironolactone
Osyrol
Pfizer Brand of Spironolactone
Pharmafrid Brand of Spironolactone
Practon
Prestwick0_000128
Prestwick1_000128
Prestwick2_000128
Prestwick3_000128
Roche Brand of Spironolactone
S0260
S3378_SIGMA
SAM002264648
SC 9420
SC-9420
SC9420
SMR000471892
SNL
SPBio_002115
Sagisal
Searle Brand of Spironolactone
Sincomen
Spiractin
Spiresis
Spiretic
Spiridon
Spiro L.U.T.
Spiro(17H-cyclopenta(a)phenauthrene-17,2'-(3'H)-furan)
Spiro-Tablinen
Spiro[17H-cyclopenta[a]phenauthrene-17,2'-(3'H)-furan]
Spirobeta
Spiroctan
Spiroctanie
Spiroderm
Spirogamma
Spirolactone
Spirolakton
Spirolang
Spirolone
Spirone
Spirono Isis
Spirono-Isis
Spironocompren
Spironolactone
Spironolactone (JP15/USP/INN)
Spironolactone A
Spironolactone [BAN:INN:JAN]
Spironolactone [INN:BAN:JAN]
Spironolactonum
Spironolactonum [INN-Latin]
Spironolattone
Spironolattone [DCIT]
Spironone
Spirospare
Sprioderm
Supra-puren
Suracton
UNII-27O7W4T232
Uractone
Urusonin
Veroshpiron
Verospiron
Verospirone
Verospirone Opianin
WLN: L E5 B666 FX OV MUTJ A1 E1 KSV1 F-& CT5VOXTJ
Worwag Brand of Spironolactone
Xenalon
ZINC03861599
betapharm Brand of Spironolactone
ct Arzneimittel Brand of Spironolactone
ct-Arzneimittel Brand of Spironolactone
spiro von ct
spironolactone
spironolattone
von ct, spiro
2
Ramiprilapproved14187333-19-55362129
Synonyms:
(2 S ,3 aS ,6 aS )-1[( S )-N-[( S )-1-Carboxy-3-phenylpropyl] alanyl] octahydrocyclopenta [ b ]pyrrole-2-carboxylic acid, 1-ethyl ester
(2S,3aS,6aS)-1-((S)-2-((S)-1-ethoxy-1-oxo-4-phenylbutan-2-ylamino)propanoyl) octahydrocyclopenta[b]pyrrole-2-carboxylic acid
(2S,3aS,6aS)-1-((S)-N-((S)-1-Carboxy-3-phenylpropyl)alanyl)octahydrocyclopenta(b)pyrrole-2-carboxylic acid, 1-ethyl ester
(2S,3aS,6aS)-1-((S)-N-((S)-1-Ethoxycarbonyl-3-phenylpropyl)alanyl)octahydrocyclopenta(b)pyrrol-2-carbonsaeure
(2S,3aS,6aS)-1-[(2S)-2-[[(2S)-1-ethoxy-1-oxo-4-phenylbutan-2-yl]amino]propanoyl]-3,3a,4,5,6,6a-hexahydro-2H-cyclopenta[b]pyrrole-2-carboxylic acid
(2S,3aS,6aS)-1-[(2S)-2-{[(1S)-1-ethoxycarbonyl-3-phenylpropyl]amino}propanoyl]octahydrocyclopenta[b]pyrrole-2-carboxylic acid
(2S,3aS,6aS)-1-[(2S)-2-{[(2S)-1-ethoxy-1-oxo-4-phenylbutan-2-yl]amino}propanoyl]octahydrocyclopenta[b]pyrrole-2-carboxylic acid (non-preferred name)
(2S-(1(R*(R*)),2alpha,3abeta,6abeta))-1-(2-((1-(Ethoxycarbonyl)-3-phenylpropyl)amino)-1-oxopropyl)octahydrocyclopenta(b)pyrrole-2-carboxylic acid.
(2S-(1(R*(r*)),2alpha,3abeta,6abeta))-1-(2-((1-(ethoxycarbonyl)-3-phenylpropyl)amino)-1-oxopropyl)octahydrocyclopenta(b)pyrrole-2-carboxylic acid
(2s,3as,6as)-1((s)-n-((s)-1-carboxy-3-phenylpropyl)alanyl)octahydrocyclopenta(b)pyrrole-2-carboxylic
(2s,3as,6as)-1-((s)-2-((s)-1-ethoxy-1-oxo-4-phenylbutan-2-ylamino)propanoyl)-octahydrocyclopenta[b]p
(2s,3as,6as)-1-[(s)-2-((s)-1-ethoxycarbonyl-3-phenyl-propylamino)-propionyl]-octahydro-cyclopenta[b]
126613-39-6
87333-19-5
AC-1347
AC1NSFPR
Acovil
Almirall Brand of Ramipril
Altace
Altace (TN)
Altace (tn)
Astra Brand of Ramipril
AstraZeneca Brand of Ramipril
Aventis Brand of Ramipril
Aventis Pharma Brand of Ramipril
BIDD:GT0803
BSPBio_003347
Bio-0651
C23H32N2O5
CHEBI:289203
CHEBI:8774
CHEMBL1168
CID5362129
CPD000466386
Carasel
Cardace
D00421
D017257
DB00178
Delix
HMS2051E04
HMS2090L11
HMS2093M10
HOE 498
HOE498
Hoe-498
Hoechst Brand of Ramipril
 
Hypren
Hytren
KBio2_002504
KBio2_005072
KBio2_007640
KBio3_002849
KBioGR_001858
KBioSS_002512
LS-58199
Lostapres
MLS000759523
MLS001216547
MLS001423965
MolPort-001-736-571
Monarch Brand of Ramipril
N-(1S-carboethoxy-3-phenylpropyl)-S-alanyl-cis,endo-2-azabicyclo[3.3.0]octane-3S-carboxylic Acid
NCGC00178127-01
Naprix
Pramace
Pramace (discontinued)
Promed Brand of Ramipril
Quark
R0404_SIGMA
Ramace
Ramipril
Ramipril (USP/INN)
Ramipril [USAN:INN:BAN]
Ramiprilum
Ramiprilum [Latin]
Ramipro, Tritace, Altace, Prilace, Ramipril
S1793_Selleck
SAM001246757
SAM002699899
SMR000466386
SPECTRUM1505214
STK801937
Spectrum3_001794
Spectrum4_001269
Spectrum5_001721
Spectrum_001958
Triatec
Tritace
UNII-L35JN3I7SJ
Vesdil
Zabien
[2S,3aS,6aS]-1-[(2S)-2-[[(1S)-1-(Ethoxycarbonyl)-3-phenylpropyl]amino]-1-oxopropyl]octahydrocyclopenta[b]pyrrole-2-carboxylic acid
[2s,3as,6as]-1-[(2s)-2-[[(1s)-1-(ethoxycarbonyl)-3-phenylpropyl]amino]-1-oxopropyl]octahydrocyclopen
ramipril
3Mineralocorticoids294

Interventional clinical trials:

idNameStatusNCT IDPhase
1European Alport Therapy Registry - European Initiative Towards Delaying Renal Failure in Alport SyndromeRecruitingNCT02378805
2Alport Syndrome Treatments and Outcomes RegistryRecruitingNCT00481130

Search NIH Clinical Center for Hematuria, Benign Familial

Genetic Tests for Hematuria, Benign Familial

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Anatomical Context for Hematuria, Benign Familial

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Animal Models for Hematuria, Benign Familial or affiliated genes

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MGI Mouse Phenotypes related to Hematuria, Benign Familial:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.5COL4A3, COL4A4, COL4A5

Publications for Hematuria, Benign Familial

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Variations for Hematuria, Benign Familial

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

67
id Symbol AA change Variation ID SNP ID
1COL4A3p.Gly985ValVAR_030948
2COL4A3p.Gly1015GluVAR_030949
3COL4A4p.Gly897GluVAR_001912
4COL4A4p.Gly116GluVAR_031623
5COL4A4p.Gly960ArgVAR_031624
6COL4A4p.Gly999GluVAR_031625rs13027659
7COL4A4p.Pro1132LeuVAR_031626

Clinvar genetic disease variations for Hematuria, Benign Familial:

5
id Gene Variation Type Significance SNP ID Assembly Location
1COL4A4NM_000092.4(COL4A4): c.2690G> A (p.Gly897Glu)single nucleotide variantPathogenicrs121912860GRCh37Chr 2, 227920687: 227920687
2COL4A4COL4A4, 1-BP INS, 3222AinsertionPathogenic
3COL4A4COL4A4, GLY960ARGundetermined variantPathogenic
4NM_000091.4(COL4A3): c.3044G> A (p.Gly1015Glu)single nucleotide variantPathogenicrs121912826GRCh37Chr 2, 228154778: 228154778
5NM_000091.4(COL4A3): c.2954G> T (p.Gly985Val)single nucleotide variantPathogenicrs121912827GRCh37Chr 2, 228153938: 228153938

Expression for genes affiliated with Hematuria, Benign Familial

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

Pathways for genes affiliated with Hematuria, Benign Familial

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

(show all 17)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.0COL4A3, COL4A4
28.5COL4A3, COL4A4, COL4A5
3
Show member pathways
8.5COL4A3, COL4A4, COL4A5
4
Show member pathways
8.5COL4A3, COL4A4, COL4A5
5
Show member pathways
8.5COL4A3, COL4A4, COL4A5
6
Show member pathways
8.5COL4A3, COL4A4, COL4A5
7
Show member pathways
8.5COL4A3, COL4A4, COL4A5
8
Show member pathways
8.5COL4A3, COL4A4, COL4A5
9
Show member pathways
8.5COL4A3, COL4A4, COL4A5
108.5COL4A3, COL4A4, COL4A5
118.5COL4A3, COL4A4, COL4A5
128.5COL4A3, COL4A4, COL4A5
138.5COL4A3, COL4A4, COL4A5
148.5COL4A3, COL4A4, COL4A5
158.5COL4A3, COL4A4, COL4A5
168.5COL4A3, COL4A4, COL4A5
178.5COL4A3, COL4A4, COL4A5

GO Terms for genes affiliated with Hematuria, Benign Familial

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

idNameGO IDScoreTop Affiliating Genes
1basal laminaGO:00056059.8COL4A4, COL4A5
2collagen trimerGO:00055818.6COL4A3, COL4A4, COL4A5
3collagen type IV trimerGO:00055878.5COL4A3, COL4A4, COL4A5
4extracellular regionGO:00055768.5COL4A3, COL4A4, COL4A5
5basement membraneGO:00056048.4COL4A3, COL4A4, COL4A5
6endoplasmic reticulum lumenGO:00057888.2COL4A3, COL4A4, COL4A5

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

idNameGO IDScoreTop Affiliating Genes
1glomerular basement membrane developmentGO:00328369.5COL4A3, COL4A4
2extracellular matrix disassemblyGO:00226178.6COL4A3, COL4A4, COL4A5
3extracellular matrix organizationGO:00301988.5COL4A3, COL4A4, COL4A5
4collagen catabolic processGO:00305748.4COL4A3, COL4A4, COL4A5
5axon guidanceGO:00074118.2COL4A3, COL4A4, COL4A5

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

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituentGO:00052018.5COL4A3, COL4A4, COL4A5

Sources for Hematuria, Benign Familial

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet