MCID: CFH006
MIFTS: 15

Cfhr5 Deficiency

Categories: Genetic diseases, Nephrological diseases

Aliases & Classifications for Cfhr5 Deficiency

MalaCards integrated aliases for Cfhr5 Deficiency:

Name: Cfhr5 Deficiency 57 75 29 6 40 73
Nephropathy Due to Cfhr5 Deficiency 57 75 13
Cfhr5d 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
cfhr5 deficiency:
Inheritance autosomal dominant inheritance
Onset and clinical course progressive


Classifications:



Summaries for Cfhr5 Deficiency

UniProtKB/Swiss-Prot : 75 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 glomerulonephritis and hematuria

Description from OMIM: 614809

Related Diseases for Cfhr5 Deficiency

Symptoms & Phenotypes for Cfhr5 Deficiency

Symptoms via clinical synopsis from OMIM:

57
Genitourinary Kidneys:
glomerulonephritis
hematuria
renal failure
end-stage renal disease
glomerular c3 deposits, subendothelial and mesangial
more

Clinical features from OMIM:

614809

Human phenotypes related to Cfhr5 Deficiency:

32
# Description HPO Frequency HPO Source Accession
1 glomerulonephritis 32 HP:0000099
2 hematuria 32 HP:0000790
3 stage 5 chronic kidney disease 32 HP:0003774

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 29 CFHR5

Anatomical Context for Cfhr5 Deficiency

MalaCards organs/tissues related to Cfhr5 Deficiency:

41
Kidney

Publications for Cfhr5 Deficiency

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 CFHR5, 1-BP INS, 485A insertion Pathogenic
3 CFHR5 NM_030787.3(CFHR5): c.678delA (p.Glu226Aspfs) deletion Pathogenic rs368209619 GRCh37 Chromosome 1, 196964917: 196964917
4 CFHR5 NM_030787.3(CFHR5): c.678delA (p.Glu226Aspfs) deletion Pathogenic rs368209619 GRCh38 Chromosome 1, 196995787: 196995787
5 CFHR5 NM_030787.3(CFHR5): c.993C> A (p.Cys331Ter) single nucleotide variant Pathogenic rs751010317 GRCh37 Chromosome 1, 196967280: 196967280
6 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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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