MCID: CNG336
MIFTS: 10

Congenital Analbuminemia malady

Categories: Genetic diseases, Rare diseases, Blood diseases

Aliases & Classifications for Congenital Analbuminemia

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Aliases & Descriptions for Congenital Analbuminemia:

Name: Congenital Analbuminemia 47
Analbuminemia 47
 
Analba 47

Classifications:



Summaries for Congenital Analbuminemia

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MalaCards based summary: Congenital Analbuminemia, also known as analbuminemia, is related to analbuminemia and glomerulonephritis. An important gene associated with Congenital Analbuminemia is ALB (Albumin).

Related Diseases for Congenital Analbuminemia

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Diseases in the Analbuminemia family:

congenital analbuminemia

Diseases related to Congenital Analbuminemia via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1analbuminemia11.3
2glomerulonephritis9.8

Symptoms for Congenital Analbuminemia

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Drugs & Therapeutics for Congenital Analbuminemia

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Congenital Analbuminemia

Genetic Tests for Congenital Analbuminemia

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Anatomical Context for Congenital Analbuminemia

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Animal Models for Congenital Analbuminemia or affiliated genes

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Publications for Congenital Analbuminemia

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Articles related to Congenital Analbuminemia:

(show all 11)
idTitleAuthorsYear
1
Congenital analbuminemia caused by a novel aberrant splicing in the albumin gene. (24627724)
2014
2
Treatment of a patient with congenital analbuminemia with atorvastatin and albumin infusion. (24303462)
2013
3
Perinatal and childhood morbidity and mortality in congenital analbuminemia. (23730173)
2012
4
Congenital analbuminemia with acute glomerulonephritis: a diagnostic challenge. (18791744)
2009
5
A boy with congenital analbuminemia and steroid-sensitive idiopathic nephrotic syndrome: an experiment of nature. (17952464)
2008
6
A speculation about hypercholesterolemia in congenital analbuminemia. (16443434)
2006
7
Congenital analbuminemia attributable to compound heterozygosity for novel mutations in the albumin gene. (15976105)
2005
8
Treatment of severe hypercholesterolemia with atorvastatin in congenital analbuminemia. (15541334)
2004
9
Influence of methodology on the detection and diagnosis of congenital analbuminemia. (9799768)
1998
10
Turnover of autologous alpha 1-antitrypsin in a patient with congenital analbuminemia. (6603561)
1983
11
Structural integrity of the human albumin gene in congenital analbuminemia. (6316971)
1983

Variations for Congenital Analbuminemia

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Clinvar genetic disease variations for Congenital Analbuminemia:

5
id Gene Variation Type Significance SNP ID Assembly Location
1ALBNM_000477.6(ALB): c.714-2A> GSNVPathogenicrs77335374GRCh37Chr 4, 74277711: 74277711
2ALBNM_000477.5(ALB): c.872dupA (p.Asn291Lysfs)duplicationPathogenicrs77449454GRCh37Chr 4, 74279165: 74279165

Expression for genes affiliated with Congenital Analbuminemia

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Search GEO for disease gene expression data for Congenital Analbuminemia.

Pathways for genes affiliated with Congenital Analbuminemia

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GO Terms for genes affiliated with Congenital Analbuminemia

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Sources for Congenital Analbuminemia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet