MCID: CNG336
MIFTS: 13

Congenital Analbuminemia malady

Blood diseases, Rare diseases categories

Summaries for Congenital Analbuminemia

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34MalaCards
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MalaCards: Congenital Analbuminemia is related to analbuminemia and hypercholesterolemia. An important gene associated with Congenital Analbuminemia is ALB (albumin).

Aliases & Classifications for Congenital Analbuminemia

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50Orphanet, 27ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

50
congenital analbuminemia:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

congenital analbuminemia 50


External Ids:

ICD10 via Orphanet27 R77.0

Related Diseases for Congenital Analbuminemia

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18GeneCards, 19GeneDecks
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Diseases in the Analbuminemia family:

congenital analbuminemia

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

idRelated DiseaseScoreTop Affiliating Genes
1analbuminemia10.6
2hypercholesterolemia10.3
3glomerulonephritis10.1
4nephrotic syndrome10.1

Symptoms for Congenital Analbuminemia

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Drugs & Therapeutics for Congenital Analbuminemia

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Congenital Analbuminemia

Drug clinical trials:

Search ClinicalTrials for Congenital Analbuminemia

Search NIH Clinical Center for Congenital Analbuminemia

Search CenterWatch 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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53PubMed
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Articles related to Congenital Analbuminemia:

idTitleAuthorsYear
1
Treatment of a patient with congenital analbuminemia with atorvastatin and albumin infusion. (24303462)
2013
2
Perinatal and childhood morbidity and mortality in congenital analbuminemia. (23730173)
2012
3
Congenital analbuminemia with acute glomerulonephritis: a diagnostic challenge. (18791744)
2009
4
A boy with congenital analbuminemia and steroid-sensitive idiopathic nephrotic syndrome: an experiment of nature. (17952464)
2008
5
A speculation about hypercholesterolemia in congenital analbuminemia. (16443434)
2006
6
Congenital analbuminemia attributable to compound heterozygosity for novel mutations in the albumin gene. (15976105)
2005
7
Treatment of severe hypercholesterolemia with atorvastatin in congenital analbuminemia. (15541334)
2004
8
Influence of methodology on the detection and diagnosis of congenital analbuminemia. (9799768)
1998
9
Turnover of autologous alpha 1-antitrypsin in a patient with congenital analbuminemia. (6603561)
1983
10
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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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Congenital Analbuminemia

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

Sources for Congenital Analbuminemia

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet