MCID: CNG336
MIFTS: 14

Congenital Analbuminemia malady

Categories: Genetic diseases, Blood diseases, Rare diseases

Aliases & Classifications for Congenital Analbuminemia

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Sources:
51Orphanet, 28ICD10 via Orphanet
See all MalaCards sources

Aliases & Descriptions for Congenital Analbuminemia:

Name: Congenital Analbuminemia 51

Characteristics:

Orphanet epidemiological data:

51
congenital analbuminemia:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy

Classifications:



External Ids:

Orphanet51 86816
ICD10 via Orphanet28 R77.0

Summaries for Congenital Analbuminemia

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MalaCards based summary: Congenital Analbuminemia is related to analbuminemia and glomerulonephritis. An important gene associated with Congenital Analbuminemia is ALB (Albumin). Affiliated tissues include tongue, breast and kidney.

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
1analbuminemia10.4
2glomerulonephritis9.9
3nephrotic syndrome9.9

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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MalaCards organs/tissues related to Congenital Analbuminemia:

33
Tongue, Breast, Kidney

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_000477.5(ALB): c.714-2A> Gsingle nucleotide variantPathogenicrs77335374GRCh37Chr 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
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