MCID: CNG336
MIFTS: 17

Congenital Analbuminemia

Categories: Blood diseases, Bone diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Congenital Analbuminemia

MalaCards integrated aliases for Congenital Analbuminemia:

Name: Congenital Analbuminemia 54
Analbuminemia 54
Analba 54

Classifications:



Summaries for Congenital Analbuminemia

NIH Rare Diseases : 54 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.

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 bone, heart and testes.

Related Diseases for Congenital Analbuminemia

Diseases in the Analbuminemia family:

Congenital Analbuminemia

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

# Related Disease Score Top Affiliating Genes
1 analbuminemia 11.6
2 glomerulonephritis 10.1
3 nephrotic syndrome 10.1

Symptoms & Phenotypes for Congenital Analbuminemia

Drugs & Therapeutics for Congenital Analbuminemia

Search Clinical Trials , NIH Clinical Center for Congenital Analbuminemia

Genetic Tests for Congenital Analbuminemia

Anatomical Context for Congenital Analbuminemia

MalaCards organs/tissues related to Congenital Analbuminemia:

42
Bone, Heart, Testes, Pituitary

Publications for Congenital Analbuminemia

Articles related to Congenital Analbuminemia:

(show top 50) (show all 77)
# Title Authors Year
1
A novel insertion (c.1098dupT) in the albumin gene causes analbuminemia in a consanguineous family. ( 29981851 )
2019
2
Congenital analbuminemia in a patient affected by hypercholesterolemia: A case report. ( 30842957 )
2019
3
Diagnosis, Phenotype, and Molecular Genetics of Congenital Analbuminemia. ( 31057599 )
2019
4
Congenital Analbuminemia in Unrelated Algerian and Turkish Families is Caused by the Same Molecular Defect in the Albumin Gene. ( 29214768 )
2018
5
A nucleotide deletion and frame-shift cause analbuminemia in a Turkish family. ( 27346974 )
2016
6
Congenital analbuminemia caused by a novel aberrant splicing in the albumin gene. ( 24627724 )
2014
7
A novel mutation in the albumin gene (c.1A>C) resulting in analbuminemia. ( 23176518 )
2013
8
Treatment of a patient with congenital analbuminemia with atorvastatin and albumin infusion. ( 24303462 )
2013
9
A novel splicing mutation causes analbuminemia in a Portuguese boy. ( 22227324 )
2012
10
Detection of a novel splicing mutation causing analbuminemia in a Libyan family. ( 22613267 )
2012
11
A two-base-pairs deletion in the albumin gene causes a new case of analbuminemia. ( 23093284 )
2012
12
Perinatal and childhood morbidity and mortality in congenital analbuminemia. ( 23730173 )
2012
13
Coronary artery bypass surgery in a patient with analbuminemia. ( 21423479 )
2011
14
Molecular diagnosis of analbuminemia: a new case caused by a nonsense mutation in the albumin gene. ( 22174600 )
2011
15
Location of the mutation site in the first two reported cases of analbuminemia. ( 20025859 )
2010
16
A novel frameshift deletion in the albumin gene causes analbuminemia in a young Turkish woman. ( 20638375 )
2010
17
Congenital analbuminemia with acute glomerulonephritis: a diagnostic challenge. ( 18791744 )
2009
18
A novel nonsense mutation in the albumin gene (c.1275 C>A) causing analbuminemia in a Tunisian boy. ( 19803814 )
2009
19
A boy with congenital analbuminemia and steroid-sensitive idiopathic nephrotic syndrome: an experiment of nature. ( 17952464 )
2008
20
Analbuminemia Zonguldak: case report and mutational analysis. ( 18154732 )
2008
21
Analbuminemia in a Swedish male is caused by the Kayseri mutation (c228_229delAT). ( 18602380 )
2008
22
Toxicokintic and toxicodynamic analysis of clofibrate based on free drug concentrations in nagase analbuminemia rats (NAR). ( 18670166 )
2008
23
Novel frameshift in the serum albumin gene results in analbuminemia through premature truncation and post translational modification. ( 18801349 )
2008
24
Analbuminemia presenting with severe hypercholesterolemia: a risk for atherosclerosis? ( 17451149 )
2007
25
Analbuminemia produced by a novel splicing mutation. ( 17644793 )
2007
26
Genetical analbuminemia is not an appropriate model for hypoalbuminemia in critically ill patients. ( 17998381 )
2007
27
Analbuminemia in a Slovak Romany (gypsy) family: case report and mutational analysis. ( 16183048 )
2006
28
A speculation about hypercholesterolemia in congenital analbuminemia. ( 16443434 )
2006
29
Albumin locust valley: a new case of analbuminemia. ( 16713595 )
2006
30
Novel nonsense mutation causes analbuminemia in a Moroccan family. ( 15613718 )
2005
31
Congenital analbuminemia attributable to compound heterozygosity for novel mutations in the albumin gene. ( 15976105 )
2005
32
Analbuminemia in a Swiss family is caused by a C --> T transition at nucleotide 4446 of the albumin gene. ( 15996651 )
2005
33
Effects of gender on hepatic HMG-CoA reductase, cholesterol 7alpha-hydroxylase, and LDL receptor in hereditary analbuminemia. ( 16030068 )
2005
34
Treatment of severe hypercholesterolemia with atorvastatin in congenital analbuminemia. ( 15541334 )
2004
35
HMG-CoA reductase, cholesterol 7alpha-hydroxylase, LCAT, ACAT, LDL receptor, and SRB-1 in hereditary analbuminemia. ( 12787409 )
2003
36
Transplantation of hepatocytes cultured on hydroxyapatite into Nagase analbuminemia rats. ( 16233488 )
2003
37
Molecular diagnosis of analbuminemia: a novel mutation identified in two Amerindian and two Turkish families. ( 12028999 )
2002
38
A novel splicing mutation causes an undescribed type of analbuminemia. ( 11781148 )
2002
39
Influence of methodology on the detection and diagnosis of congenital analbuminemia. ( 9799768 )
1998
40
Lipoprotein kinetics in patients with analbuminemia. Evidence for the role of serum albumin in controlling lipoprotein metabolism. ( 9261269 )
1997
41
Bennhold's analbuminemia: a follow-up study of the first two cases (1953-1992). ( 8621984 )
1996
42
Amelioration of analbuminemia by transplantation of allogeneic hepatocytes in tolerized rats. ( 7762076 )
1995
43
Analbuminemia: three cases resulting from different point mutations in the albumin gene. ( 7937781 )
1994
44
A nucleotide insertion and frameshift cause analbuminemia in an Italian family. ( 8134387 )
1994
45
Analbuminemia does not significantly influence hepatocarcinogenesis on comparing F344 rats and a congenic line carrying the analbuminemic mutation. ( 8313513 )
1994
46
Radioimmunoassay measurement of albumin in urine is a valid method for monitoring analbuminemia in rats. ( 1569211 )
1992
47
Receptor-mediated gene delivery in vivo. Partial correction of genetic analbuminemia in Nagase rats. ( 1860843 )
1991
48
Splicing mutation in human hereditary analbuminemia. ( 3353369 )
1988
49
Reduced activity of androgen biosynthesis in the testes of rats with analbuminemia. ( 3084876 )
1986
50
Bile acid profiles in analbuminemia rats. ( 3997792 )
1985

Variations for Congenital Analbuminemia

Expression for Congenital Analbuminemia

Search GEO for disease gene expression data for Congenital Analbuminemia.

Pathways for Congenital Analbuminemia

GO Terms for Congenital Analbuminemia

Sources for Congenital Analbuminemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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