MCID: CNG336
MIFTS: 11

Congenital Analbuminemia malady

Genetic diseases, Blood diseases, Rare diseases categories

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).

Aliases & Classifications for Congenital Analbuminemia

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Sources:
47Orphanet, 26ICD10 via Orphanet
See all sources

Congenital Analbuminemia, Aliases & Descriptions:

Name: Congenital Analbuminemia 47


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Blood diseases


Characteristics (Orphanet epidemiological data):

47
congenital analbuminemia:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy


External Ids:

Orphanet47 86816
ICD10 via Orphanet26 R77.0

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
1analbuminemia10.7
2glomerulonephritis10.1
3nephrotic syndrome10.1

Symptoms for Congenital Analbuminemia

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Drugs & Therapeutics for Congenital Analbuminemia

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Drug clinical trials:

Search ClinicalTrials for Congenital Analbuminemia

Search 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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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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Compounds for genes affiliated with Congenital Analbuminemia

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GO Terms for genes affiliated with Congenital Analbuminemia

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Products for genes affiliated with Congenital Analbuminemia

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Congenital Analbuminemia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet