MCID: HMT008
MIFTS: 35

Hematuria, Benign Familial malady

Categories: Genetic diseases, Rare diseases, Nephrological diseases

Aliases & Classifications for Hematuria, Benign Familial

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Aliases & Descriptions for Hematuria, Benign Familial:

Name: Hematuria, Benign Familial 49 11 67 65
Thin Basement Membrane Nephropathy 45 67
Hematuria Benign Familial 47 24
Thin Membrane Nephropathy 45 67
Familial Benign Essential Hematuria 45
Thin Basement Membrane Disease 65
Familial Hematuric Nephritis 45
 
Benign Hereditary Nephritis 45
Benign Essential Hematuria 45
Hematuria, Familial Benign 11
Benign Familial Hematuria 45
Tbmn 45
Bfh 67
Tmn 67

Characteristics:

HPO:

61
hematuria, benign familial:
Onset and clinical course: nonprogressive
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 141200
MeSH36 D006417
UMLS65 C0403440, C0241908

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 thin glomerular basement membraneand hematuria. An important gene associated with Hematuria, Benign Familial is COL4A3 (Collagen Type IV Alpha 3), and among its related pathways are Pathways in cancer and Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases. Related mouse phenotypes are renal/urinary system and vision/eye.

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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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 thin glomerular basement membrane HP:0012577
2 hematuria HP:0000790

Drugs & Therapeutics for Hematuria, Benign Familial

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

(show all 14)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Ramiprilapproved14487333-19-55362129
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
Unipril
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
2
Spironolactoneapproved1591952-01-7, 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
3Mineralocorticoid Receptor Antagonists284
4Mineralocorticoids301
5Protease Inhibitors4558
6Hydroxymethylglutaryl-CoA Reductase Inhibitors1804
7Natriuretic Agents1403
8Hormones, Hormone Substitutes, and Hormone Antagonists9988
9Diuretics, Potassium Sparing1445
10diuretics1194
11HIV Protease Inhibitors4558
12Hormone Antagonists10002
13Hormones11748
14Angiotensin-Converting Enzyme Inhibitors634

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
2MP:00053918.2COL4A3, 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
6NM_000091.4(COL4A3): c.765+2T> Csingle nucleotide variantPathogenicrs869025326GRCh37Chr 2, 228118356: 228118356
7NM_000091.4(COL4A3): c.3410G> Asingle nucleotide variantPathogenicrs869025327GRCh37Chr 2, 228159278: 228159278
8NM_000091.4(COL4A3): c.765G> Tsingle nucleotide variantPathogenicrs869025328GRCh37Chr 2, 228118354: 228118354
9COL4A4NM_000092.4(COL4A4): c.2986G> Asingle nucleotide variantPathogenicrs370474706GRCh37Chr 2, 227915857: 227915857
10COL4A4NM_000092.4(COL4A4): c.1100-2A> Csingle nucleotide variantPathogenicrs869025329GRCh37Chr 2, 227963516: 227963516

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 18)
idSuper pathwaysScoreTop Affiliating Genes
18.5COL4A3, COL4A4, COL4A5
2
Show member pathways
8.5COL4A3, 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
98.5COL4A3, COL4A4, COL4A5
10
Show member pathways
8.5COL4A3, 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
188.5COL4A3, 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
1collagen type IV trimerGO:00055878.5COL4A3, COL4A4, COL4A5

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

idNameGO IDScoreTop Affiliating Genes
1collagen catabolic processGO:00305748.9COL4A3, COL4A4
2extracellular matrix disassemblyGO:00226178.5COL4A3, 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