CFHR5D
MCID: CFH006
MIFTS: 17

Cfhr5 Deficiency (CFHR5D)

Categories: Genetic diseases, Nephrological diseases

Aliases & Classifications for Cfhr5 Deficiency

MalaCards integrated aliases for Cfhr5 Deficiency:

Name: Cfhr5 Deficiency 58 76 30 6 41 74
Nephropathy Due to Cfhr5 Deficiency 58 76 13
Cfhr5d 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
progressive disorder
hematuria may become apparent after respiratory infections (synpharyngitic)
progression more frequent in men than women
first identified in individuals of cypriot origin


HPO:

33
cfhr5 deficiency:
Onset and clinical course progressive
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Cfhr5 Deficiency

UniProtKB/Swiss-Prot : 76 CFHR5 deficiency: A progressive disease characterized by glomerulonephritis, hematuria, renal failure, end-stage renal disease, subendothelial and mesangial glomerular C3 deposits, mesangial matrix expansion, increased glomerular cellularity, and segmental capillary wall thickening. Hematuria may become apparent after respiratory infections.

MalaCards based summary : Cfhr5 Deficiency, is also known as nephropathy due to cfhr5 deficiency. An important gene associated with Cfhr5 Deficiency is CFHR5 (Complement Factor H Related 5). Affiliated tissues include kidney, and related phenotypes are hematuria and stage 5 chronic kidney disease

Description from OMIM: 614809

Related Diseases for Cfhr5 Deficiency

Symptoms & Phenotypes for Cfhr5 Deficiency

Human phenotypes related to Cfhr5 Deficiency:

33
# Description HPO Frequency HPO Source Accession
1 hematuria 33 HP:0000790
2 stage 5 chronic kidney disease 33 HP:0003774
3 glomerulonephritis 33 HP:0000099

Symptoms via clinical synopsis from OMIM:

58
Genitourinary Kidneys:
hematuria
glomerulonephritis
renal failure
end-stage renal disease
glomerular c3 deposits, subendothelial and mesangial
more

Clinical features from OMIM:

614809

Drugs & Therapeutics for Cfhr5 Deficiency

Search Clinical Trials , NIH Clinical Center for Cfhr5 Deficiency

Genetic Tests for Cfhr5 Deficiency

Genetic tests related to Cfhr5 Deficiency:

# Genetic test Affiliating Genes
1 Cfhr5 Deficiency 30 CFHR5

Anatomical Context for Cfhr5 Deficiency

MalaCards organs/tissues related to Cfhr5 Deficiency:

42
Kidney

Publications for Cfhr5 Deficiency

Articles related to Cfhr5 Deficiency:

# Title Authors Year
1
Acute presentation and persistent glomerulonephritis following streptococcal infection in a patient with heterozygous complement factor H-related protein 5 deficiency. ( 22503529 )
2012
2
Identification of a mutation in complement factor H-related protein 5 in patients of Cypriot origin with glomerulonephritis. ( 20800271 )
2010

Variations for Cfhr5 Deficiency

ClinVar genetic disease variations for Cfhr5 Deficiency:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CFHR5 CFHR5, EX2-3DUP copy number gain Pathogenic
2 CFHR5 NM_030787.3(CFHR5): c.678delA (p.Glu226Aspfs) deletion Pathogenic rs368209619 GRCh37 Chromosome 1, 196964917: 196964917
3 CFHR5 NM_030787.3(CFHR5): c.678delA (p.Glu226Aspfs) deletion Pathogenic rs368209619 GRCh38 Chromosome 1, 196995787: 196995787
4 CFHR5 NM_030787.3(CFHR5): c.486dupA (p.Glu163Argfs) duplication Uncertain significance rs565457964 GRCh37 Chromosome 1, 196963265: 196963265
5 CFHR5 NM_030787.3(CFHR5): c.486dupA (p.Glu163Argfs) duplication Uncertain significance rs565457964 GRCh38 Chromosome 1, 196994135: 196994135
6 CFHR5 NM_030787.3(CFHR5): c.993C> A (p.Cys331Ter) single nucleotide variant Pathogenic rs751010317 GRCh37 Chromosome 1, 196967280: 196967280
7 CFHR5 NM_030787.3(CFHR5): c.993C> A (p.Cys331Ter) single nucleotide variant Pathogenic rs751010317 GRCh38 Chromosome 1, 196998150: 196998150

Expression for Cfhr5 Deficiency

Search GEO for disease gene expression data for Cfhr5 Deficiency.

Pathways for Cfhr5 Deficiency

GO Terms for Cfhr5 Deficiency

Sources for Cfhr5 Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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