MCID: ANL018
MIFTS: 25

Analbuminemia malady

Categories: Genetic diseases, Blood diseases, Rare diseases

Aliases & Classifications for Analbuminemia

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Aliases & Descriptions for Analbuminemia:

Name: Analbuminemia 49 67 24
 
Analba 67

Characteristics:

HPO:

61
analbuminemia:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 616000
MedGen34 C0878666
MeSH36 D034141

Summaries for Analbuminemia

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OMIM:49 Analbuminemia is a rare autosomal recessive disorder manifested by the presence of a very low amount of circulating... (616000) more...

MalaCards based summary: Analbuminemia, also known as analba, is related to congenital analbuminemia and nephrotic syndrome, and has symptoms including osteoporosis, hypotension and hypoalbuminemia. An important gene associated with Analbuminemia is ALB (Albumin). Affiliated tissues include t cells, heart and endothelial.

UniProtKB/Swiss-Prot:67 Analbuminemia: A rare autosomal recessive disorder manifested by the presence of a very low amount of circulating serum albumin. Affected individuals manifest mild edema, hypotension, fatigue, and, occasionally, lower body lipodystrophy (mainly in adult females). The most common biochemical finding is hyperlipidemia, with a significant increase in the total and LDL cholesterol concentrations, but normal concentrations of HDL cholesterol and triglycerides.

Related Diseases for Analbuminemia

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Diseases in the Analbuminemia family:

Congenital Analbuminemia

Diseases related to Analbuminemia via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1congenital analbuminemia12.1
2nephrotic syndrome10.0
3atherosclerosis9.9
4glomerulonephritis9.9
5hepatitis9.9

Graphical network of diseases related to Analbuminemia:



Diseases related to analbuminemia

Symptoms for Analbuminemia

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Clinical features from OMIM:

616000

HPO human phenotypes related to Analbuminemia:

(show all 6)
id Description Frequency HPO Source Accession
1 osteoporosis HP:0000939
2 hypotension HP:0002615
3 hypoalbuminemia HP:0003073
4 hyperlipidemia HP:0003077
5 lipodystrophy HP:0009125
6 fatigue HP:0012378

Drugs & Therapeutics for Analbuminemia

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Analbuminemia

Genetic Tests for Analbuminemia

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Anatomical Context for Analbuminemia

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MalaCards organs/tissues related to Analbuminemia:

33
T cells, Heart, Endothelial, Prostate, Tongue, Skin, Kidney

Animal Models for Analbuminemia or affiliated genes

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Publications for Analbuminemia

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Articles related to Analbuminemia:

(show top 50)    (show all 73)
idTitleAuthorsYear
1
ANNALS EXPRESS: A novel splicing mutation in the albumin gene (c.270+1G>T) causes analbuminemia in a German infant. (26543026)
2015
2
A novel mutation in the albumin gene (c.1A>C) resulting in analbuminemia. (23176518)
2013
3
Treatment of a patient with congenital analbuminemia with atorvastatin and albumin infusion. (24303462)
2013
4
Perinatal and childhood morbidity and mortality in congenital analbuminemia. (23730173)
2012
5
A novel splicing mutation causes analbuminemia in a Portuguese boy. (22227324)
2012
6
A two-base-pairs deletion in the albumin gene causes a new case of analbuminemia. (23093284)
2012
7
Coronary artery bypass surgery in a patient with analbuminemia. (21423479)
2011
8
A novel frameshift deletion in the albumin gene causes analbuminemia in a young Turkish woman. (20638375)
2010
9
Location of the mutation site in the first two reported cases of analbuminemia. (20025859)
2010
10
A novel nonsense mutation in the albumin gene (c.1275 C>A) causing analbuminemia in a Tunisian boy. (19803814)
2009
11
Novel frameshift in the serum albumin gene results in analbuminemia through premature truncation and post translational modification. (18801349)
2008
12
Toxicokintic and toxicodynamic analysis of clofibrate based on free drug concentrations in nagase analbuminemia rats (NAR). (18670166)
2008
13
Analbuminemia in a Swedish male is caused by the Kayseri mutation (c228_229delAT). (18602380)
2008
14
A boy with congenital analbuminemia and steroid-sensitive idiopathic nephrotic syndrome: an experiment of nature. (17952464)
2008
15
Analbuminemia produced by a novel splicing mutation. (17644793)
2007
16
Analbuminemia presenting with severe hypercholesterolemia: a risk for atherosclerosis? (17451149)
2007
17
Analbuminemia in a Slovak Romany (gypsy) family: case report and mutational analysis. (16183048)
2006
18
Albumin locust valley: a new case of analbuminemia. (16713595)
2006
19
Novel nonsense mutation causes analbuminemia in a Moroccan family. (15613718)
2005
20
Effects of gender on hepatic HMG-CoA reductase, cholesterol 7alpha-hydroxylase, and LDL receptor in hereditary analbuminemia. (16030068)
2005
21
Congenital analbuminemia attributable to compound heterozygosity for novel mutations in the albumin gene. (15976105)
2005
22
Treatment of severe hypercholesterolemia with atorvastatin in congenital analbuminemia. (15541334)
2004
23
HMG-CoA reductase, cholesterol 7alpha-hydroxylase, LCAT, ACAT, LDL receptor, and SRB-1 in hereditary analbuminemia. (12787409)
2003
24
A novel splicing mutation causes an undescribed type of analbuminemia. (11781148)
2002
25
Molecular diagnosis of analbuminemia: a novel mutation identified in two Amerindian and two Turkish families. (12028999)
2002
26
Influence of methodology on the detection and diagnosis of congenital analbuminemia. (9799768)
1998
27
Lipoprotein kinetics in patients with analbuminemia. Evidence for the role of serum albumin in controlling lipoprotein metabolism. (9261269)
1997
28
Bennhold's analbuminemia: a follow-up study of the first two cases (1953-1992). (8621984)
1996
29
Amelioration of analbuminemia by transplantation of allogeneic hepatocytes in tolerized rats. (7762076)
1995
30
A nucleotide insertion and frameshift cause analbuminemia in an Italian family. (8134387)
1994
31
Analbuminemia does not significantly influence hepatocarcinogenesis on comparing F344 rats and a congenic line carrying the analbuminemic mutation. (8313513)
1994
32
Radioimmunoassay measurement of albumin in urine is a valid method for monitoring analbuminemia in rats. (1569211)
1992
33
Receptor-mediated gene delivery in vivo. Partial correction of genetic analbuminemia in Nagase rats. (1860843)
1991
34
Bile acid profiles in analbuminemia rats. (3997792)
1985
35
Hormone levels of anterior pituitary gland and serum in Nagase analbuminemia rats. (6430688)
1984
36
Turnover of autologous alpha 1-antitrypsin in a patient with congenital analbuminemia. (6603561)
1983
37
Plasma lipid concentrations and enzyme activities in Nagase analbuminemia rats (NAR). (6852119)
1983
38
Analbuminemia. (6348399)
1983
39
Molecular genetics of human serum albumin: restriction enzyme fragment length polymorphisms and analbuminemia. (6310605)
1983
40
Characterization of hyperlipidemia in two patients with analbuminemia. (6851139)
1983
41
Restriction fragment length polymorphism of the rat albumin gene in Sprague-Dawley rats and its application in genetic study of analbuminemia. (6289269)
1982
42
Linkage of the analbuminemia locus (alb) and the hooded locus in the rat, Rattus norvegicus. (7140831)
1982
43
Further studies on plasma proteins, lipids, and dye- and drug-binding in a child with analbuminemia. (7237786)
1981
44
Additional data on albumin variants in Italy (one new type of slow variant, two new homozygotes for rare variants, four cases of analbuminemia). (7466161)
1980
45
Turnover of serum proteins in rats with analbuminemia. (465033)
1979
46
Analbuminemia in an American Indian girl. (1269174)
1976
47
Analbuminemia in a neonate. (1127526)
1975
48
Serum cholinesterase in analbuminemia. (5900596)
1966
49
STUDIES ON THE METABOLISM OF THE SERUM PROTEINS AND LIPIDS IN A PATIENT WITH ANALBUMINEMIA. (14246095)
1964
50
Analbuminemia with the nephrotic syndrome. (13852171)
1959

Variations for Analbuminemia

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Clinvar genetic disease variations for 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 Analbuminemia

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Search GEO for disease gene expression data for Analbuminemia.

Pathways for genes affiliated with Analbuminemia

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GO Terms for genes affiliated with Analbuminemia

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Sources for 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