PROCHOB
MCID: PRT251
MIFTS: 11

Proteinuria, Chronic Benign (PROCHOB)

Categories: Genetic diseases

Aliases & Classifications for Proteinuria, Chronic Benign

MalaCards integrated aliases for Proteinuria, Chronic Benign:

Name: Proteinuria, Chronic Benign 56 6
Prochob 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in first decade
benign condition
non-progressive disorder


Classifications:



External Ids:

OMIM 56 618884

Summaries for Proteinuria, Chronic Benign

OMIM : 56 Chronic benign proteinuria (PROCHOB) is an autosomal recessive condition characterized by onset of isolated proteinuria in the first decade of life. The proteinuria is nonprogressive; affected individuals do not develop renal disease or impaired kidney function, and they do not have additional associated abnormalities, such as hypertension. The correct diagnosis is important to avoid inefficient or invasive intervention, such as medication or renal biopsy (summary by Bedin et al., 2020). (618884)

MalaCards based summary : Proteinuria, Chronic Benign, is also known as prochob. An important gene associated with Proteinuria, Chronic Benign is CUBN (Cubilin). Affiliated tissues include kidney.

Related Diseases for Proteinuria, Chronic Benign

Symptoms & Phenotypes for Proteinuria, Chronic Benign

Symptoms via clinical synopsis from OMIM:

56
Genitourinary Kidneys:
normal renal function
no renal disease

Laboratory Abnormalities:
proteinuria, chronic
albuminuria, chronic

Clinical features from OMIM:

618884

Drugs & Therapeutics for Proteinuria, Chronic Benign

Search Clinical Trials , NIH Clinical Center for Proteinuria, Chronic Benign

Genetic Tests for Proteinuria, Chronic Benign

Anatomical Context for Proteinuria, Chronic Benign

MalaCards organs/tissues related to Proteinuria, Chronic Benign:

40
Kidney

Publications for Proteinuria, Chronic Benign

Articles related to Proteinuria, Chronic Benign:

# Title Authors PMID Year
1
Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function. 56 6
31613795 2020

Variations for Proteinuria, Chronic Benign

ClinVar genetic disease variations for Proteinuria, Chronic Benign:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CUBN NM_001081.4(CUBN):c.10852C>T (p.Arg3618Ter)SNV Affects 873115 10:16866994-16866994 10:16824995-16824995
2 CUBN NM_001081.4(CUBN):c.8465C>T (p.Pro2822Leu)SNV Affects 873116 10:16941128-16941128 10:16899129-16899129
3 CUBN NM_001081.4(CUBN):c.3473G>A (p.Trp1158Ter)SNV Likely pathogenic 599173 rs1564492988 10:17087950-17087950 10:17045951-17045951
4 CUBN NM_001081.4(CUBN):c.9053A>C (p.Tyr3018Ser)SNV Uncertain significance 522507 rs370778353 10:16918949-16918949 10:16876950-16876950

Expression for Proteinuria, Chronic Benign

Search GEO for disease gene expression data for Proteinuria, Chronic Benign.

Pathways for Proteinuria, Chronic Benign

GO Terms for Proteinuria, Chronic Benign

Sources for Proteinuria, Chronic Benign

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....