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 celiac disease and thrombocytopenia. An important gene associated with Congenital Analbuminemia is ALB (Albumin). Affiliated tissues include breast, kidney and tongue.

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
1celiac disease10.1
2thrombocytopenia10.1
3sarcoma10.1
4polyarteritis nodosa10.1
5muscular dystrophy10.1
6heparin-induced thrombocytopenia10.1
7tracheobronchomalacia10.1
8uterine sarcoma10.1

Graphical network of diseases related to Congenital Analbuminemia:



Diseases related to congenital analbuminemia

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
Breast, Kidney, Tongue

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
Tubular network formation by adriamycin-resistant MCF-7 breast cancer cells is closely linked to MMP-9 and VEGFR-2/VEGFR-3 over-expressions. (22542663)
2012
2
Identification of E74-like factor 1 (ELF1) as a transcriptional regulator of the Hox cofactor MEIS1. (20600580)
2010
3
Netrin-1 and kidney injury. II. Netrin-1 is an early biomarker of acute kidney injury. (18234954)
2008
4
Tongue necrosis from temporal arteritis. (17935244)
2007
5
Genetic and expression aberrations of E3 ubiquitin ligases in human breast cancer. (17050664)
2006
6
Identification of ubiquitin nitration and oxidation using a liquid chromatography/mass selective detector system. (16522858)
2005
7
Beyond monoamine-based therapies: clues to new approaches. (15453010)
2002
8
Expression of functional CD40 in human hepatocellular carcinoma. (10498643)
1999
9
Increased proliferation of Leydig cells induced by neonatal hypothyroidism in the rat. (8792213)
1996
10
The effect of mast cell growth factor on peripheral blood granulocyte-macrophage colony-forming cells in methylcellulose in myeloproliferative disorders. (7589339)
1995
11
Chromosome aberrations in Sotos syndrome. (1817484)
1991

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