MCID: CNG336
MIFTS: 14

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 46
Analbuminemia 46
 
Analba 46

Classifications:



Summaries for Congenital Analbuminemia

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NIH Rare Diseases:46 Congenital analbuminemia (caa) is a rare disorder characterized by the absence or very low levels of human serum albumin (hsa). although albumin is the most abundant plasma protein and has many functions, patients with caa present with only a few mild clinical signs, such as fatigue, low blood pressure, and swelling (edema). however, caa patients may loss fat tissue (lipodystrophy)  and present with high cholesterol, which may result in early atherosclerosis and heart problems. rarely, caa may be complicated by hypercoagulability (when the blood tends to clot too much), osteoporosis (which causes bones to become weak and brittle) and respiratory tract infections. it is more severe in the fetus or during early infancy. caa is caused by mutations in the alb gene. inheritance is autosomal recessive. treatment aims to prevent heart and vascular problems and may include statins and periodic albumin infusions. last updated: 6/21/2016

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). Affiliated tissues include heart and bone.

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
1analbuminemia11.4
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:

34
Heart, Bone

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> 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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet