MCID: ANL018
MIFTS: 45

Analbuminemia

Categories: Genetic diseases, Rare diseases, Blood diseases

Aliases & Classifications for Analbuminemia

MalaCards integrated aliases for Analbuminemia:

Name: Analbuminemia 53 71 28
Hypoalbuminemia 41 69 28
Analba 53 71
Congenital Analbuminemia 55

Characteristics:

Orphanet epidemiological data:

55
congenital analbuminemia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

HPO:

31
analbuminemia:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 616000
Orphanet 55 ORPHA86816
ICD10 via Orphanet 33 R77.0
MedGen 39 C0878666
MeSH 41 D034141
UMLS 69 C0239981

Summaries for Analbuminemia

OMIM : 53 Analbuminemia is a rare autosomal recessive disorder manifested by the presence of a very low amount of circulating serum albumin. Affected individuals have few clinical symptoms other than mild edema, hypotension, fatigue, and, occasionally, a peculiar lower body lipodystrophy (mainly in adult females). The most common biochemical finding is a gross hyperlipidemia, with a significant increase in the total and LDL cholesterol concentrations, but normal concentrations of HDL cholesterol and triglycerides. Analbuminemia often leads to fetal or neonatal death in sibs in families of analbuminemic subjects, which may explain the rarity of the trait (summary by Caridi et al., 2014). (616000)

MalaCards based summary : Analbuminemia, also known as hypoalbuminemia, is related to peritonitis and ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, and has symptoms including osteoporosis, hypotension and hypoalbuminemia. An important gene associated with Analbuminemia is ALB (Albumin), and among its related pathways/superpathways is FOXA2 and FOXA3 transcription factor networks. Affiliated tissues include pituitary and testes, and related phenotypes are Increased shRNA abundance and homeostasis/metabolism

UniProtKB/Swiss-Prot : 71 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

Diseases in the Analbuminemia family:

Congenital Analbuminemia

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

(show top 50) (show all 178)
# Related Disease Score Top Affiliating Genes
1 peritonitis 30.6 ALB CRP F2
2 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 12.4
3 congenital analbuminemia 12.3
4 nephrotic syndrome, type 1 10.9
5 nephrotic syndrome, type 2 10.9
6 focal segmental glomerulosclerosis 6 10.9
7 nephrotic syndrome, type 6 10.9
8 nephrotic syndrome, type 9 10.9
9 nephrotic syndrome, type 4 10.8
10 glomerulopathy with fibronectin deposits 2 10.8
11 focal segmental glomerulosclerosis 1 10.8
12 nephrotic syndrome, type 3 10.8
13 nephrotic syndrome, type 5, with or without ocular abnormalities 10.8
14 nephrotic syndrome, type 7 10.8
15 nephrotic syndrome, type 8 10.8
16 nephrotic syndrome, type 10 10.8
17 nephrotic syndrome, type 11 10.8
18 nephrotic syndrome, type 12 10.8
19 nephrotic syndrome, type 13 10.8
20 nephrotic syndrome 14 10.8
21 nephrotic syndrome 15 10.8
22 dengue disease 10.8
23 systemic capillary leak syndrome 10.8
24 paramyloidosis 10.6 ALB TTR
25 antipyrine metabolism 10.5 ALB F2
26 non-a-e hepatitis 10.5 ALB F2
27 pyuria 10.5 ALB CRP
28 malignant otitis externa 10.5 CRP F2
29 burns 10.5 ALB TTR
30 abdominal tuberculosis 10.5 ALB F2
31 epstein-barr virus hepatitis 10.5 F2 TF
32 yellow nail syndrome 10.5 ALB TF
33 median rhomboid glossitis 10.5 TF TTR
34 ischemic neuropathy 10.5 CRP F2
35 melancholia 10.5 CRP TF
36 aleutian mink disease 10.5 ALB TTR
37 chronic ulcer of skin 10.5 ALB TTR
38 miliary tuberculosis 10.4 CRP EPO
39 amyloidosis aa 10.4 CRP TTR
40 pyomyositis 10.4 CRP GPT
41 orbital cyst 10.4 F2 TF
42 hyperthyroxinemia 10.4 ALB TTR
43 uremic pruritus 10.4 CRP SLC17A5
44 esophageal varix 10.4 ALB F2
45 hepatoportal sclerosis 10.4 F2 GPT
46 kidney fibrosarcoma 10.4 EPO SLC17A5
47 decubitus ulcer 10.4 ALB CRP TTR
48 kidney hypertrophy 10.4 ALB NPHS1
49 tuberculous peritonitis 10.4 ALB CRP
50 paraquat poisoning 10.4 GPT SLC17A5

Graphical network of the top 20 diseases related to Analbuminemia:



Diseases related to Analbuminemia

Symptoms & Phenotypes for Analbuminemia

Clinical features from OMIM:

616000

Human phenotypes related to Analbuminemia:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 osteoporosis 31 HP:0000939
2 hypotension 31 HP:0002615
3 hypoalbuminemia 31 HP:0003073
4 hyperlipidemia 31 HP:0003077
5 lipodystrophy 31 HP:0009125
6 fatigue 31 HP:0012378

GenomeRNAi Phenotypes related to Analbuminemia according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance GR00327-A 8.92 APTX EPO GC OXA1L

MGI Mouse Phenotypes related to Analbuminemia:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.4 APTX AVP CRP EPO F2 F3

Drugs & Therapeutics for Analbuminemia

Search Clinical Trials , NIH Clinical Center for Analbuminemia

Inferred drug relations via UMLS 69 / NDF-RT 47 :


Cochrane evidence based reviews: hypoalbuminemia

Genetic Tests for Analbuminemia

Genetic tests related to Analbuminemia:

# Genetic test Affiliating Genes
1 Analbuminemia 28 ALB
2 Hypoalbuminemia 28

Anatomical Context for Analbuminemia

MalaCards organs/tissues related to Analbuminemia:

38
Pituitary, Testes

Publications for Analbuminemia

Articles related to Analbuminemia:

(show top 50) (show all 75)
# Title Authors Year
1
Congenital Analbuminemia in Unrelated Algerian and Turkish Families is Caused by the Same Molecular Defect in the Albumin Gene. ( 29214768 )
2018
2
A nucleotide deletion and frame-shift cause analbuminemia in a Turkish family. ( 27346974 )
2016
3
ANNALS EXPRESS: A novel splicing mutation in the albumin gene (c.270+1G>T) causes analbuminemia in a German infant. ( 26543026 )
2015
4
Congenital analbuminemia caused by a novel aberrant splicing in the albumin gene. ( 24627724 )
2014
5
A novel mutation in the albumin gene (c.1A>C) resulting in analbuminemia. ( 23176518 )
2013
6
Treatment of a patient with congenital analbuminemia with atorvastatin and albumin infusion. ( 24303462 )
2013
7
A novel splicing mutation causes analbuminemia in a Portuguese boy. ( 22227324 )
2012
8
Perinatal and childhood morbidity and mortality in congenital analbuminemia. ( 23730173 )
2012
9
A two-base-pairs deletion in the albumin gene causes a new case of analbuminemia. ( 23093284 )
2012
10
Detection of a novel splicing mutation causing analbuminemia in a Libyan family. ( 22613267 )
2012
11
Molecular diagnosis of analbuminemia: a new case caused by a nonsense mutation in the albumin gene. ( 22174600 )
2011
12
Coronary artery bypass surgery in a patient with analbuminemia. ( 21423479 )
2011
13
A novel frameshift deletion in the albumin gene causes analbuminemia in a young Turkish woman. ( 20638375 )
2010
14
Location of the mutation site in the first two reported cases of analbuminemia. ( 20025859 )
2010
15
Congenital analbuminemia with acute glomerulonephritis: a diagnostic challenge. ( 18791744 )
2009
16
A novel nonsense mutation in the albumin gene (c.1275 C>A) causing analbuminemia in a Tunisian boy. ( 19803814 )
2009
17
Analbuminemia in a Swedish male is caused by the Kayseri mutation (c228_229delAT). ( 18602380 )
2008
18
Toxicokintic and toxicodynamic analysis of clofibrate based on free drug concentrations in nagase analbuminemia rats (NAR). ( 18670166 )
2008
19
Novel frameshift in the serum albumin gene results in analbuminemia through premature truncation and post translational modification. ( 18801349 )
2008
20
A boy with congenital analbuminemia and steroid-sensitive idiopathic nephrotic syndrome: an experiment of nature. ( 17952464 )
2008
21
Analbuminemia Zonguldak: case report and mutational analysis. ( 18154732 )
2008
22
Analbuminemia produced by a novel splicing mutation. ( 17644793 )
2007
23
Analbuminemia presenting with severe hypercholesterolemia: a risk for atherosclerosis? ( 17451149 )
2007
24
Genetical analbuminemia is not an appropriate model for hypoalbuminemia in critically ill patients. ( 17998381 )
2007
25
A speculation about hypercholesterolemia in congenital analbuminemia. ( 16443434 )
2006
26
Albumin locust valley: a new case of analbuminemia. ( 16713595 )
2006
27
Analbuminemia in a Slovak Romany (gypsy) family: case report and mutational analysis. ( 16183048 )
2006
28
Novel nonsense mutation causes analbuminemia in a Moroccan family. ( 15613718 )
2005
29
Congenital analbuminemia attributable to compound heterozygosity for novel mutations in the albumin gene. ( 15976105 )
2005
30
Effects of gender on hepatic HMG-CoA reductase, cholesterol 7alpha-hydroxylase, and LDL receptor in hereditary analbuminemia. ( 16030068 )
2005
31
Analbuminemia in a Swiss family is caused by a C --> T transition at nucleotide 4446 of the albumin gene. ( 15996651 )
2005
32
Treatment of severe hypercholesterolemia with atorvastatin in congenital analbuminemia. ( 15541334 )
2004
33
HMG-CoA reductase, cholesterol 7alpha-hydroxylase, LCAT, ACAT, LDL receptor, and SRB-1 in hereditary analbuminemia. ( 12787409 )
2003
34
Transplantation of hepatocytes cultured on hydroxyapatite into Nagase analbuminemia rats. ( 16233488 )
2003
35
A novel splicing mutation causes an undescribed type of analbuminemia. ( 11781148 )
2002
36
Molecular diagnosis of analbuminemia: a novel mutation identified in two Amerindian and two Turkish families. ( 12028999 )
2002
37
Influence of methodology on the detection and diagnosis of congenital analbuminemia. ( 9799768 )
1998
38
Lipoprotein kinetics in patients with analbuminemia. Evidence for the role of serum albumin in controlling lipoprotein metabolism. ( 9261269 )
1997
39
Bennhold's analbuminemia: a follow-up study of the first two cases (1953-1992). ( 8621984 )
1996
40
Amelioration of analbuminemia by transplantation of allogeneic hepatocytes in tolerized rats. ( 7762076 )
1995
41
Analbuminemia does not significantly influence hepatocarcinogenesis on comparing F344 rats and a congenic line carrying the analbuminemic mutation. ( 8313513 )
1994
42
A nucleotide insertion and frameshift cause analbuminemia in an Italian family. ( 8134387 )
1994
43
Analbuminemia: three cases resulting from different point mutations in the albumin gene. ( 7937781 )
1994
44
Radioimmunoassay measurement of albumin in urine is a valid method for monitoring analbuminemia in rats. ( 1569211 )
1992
45
Receptor-mediated gene delivery in vivo. Partial correction of genetic analbuminemia in Nagase rats. ( 1860843 )
1991
46
Splicing mutation in human hereditary analbuminemia. ( 3353369 )
1988
47
Reduced activity of androgen biosynthesis in the testes of rats with analbuminemia. ( 3084876 )
1986
48
Bile acid profiles in analbuminemia rats. ( 3997792 )
1985
49
Hormone levels of anterior pituitary gland and serum in Nagase analbuminemia rats. ( 6430688 )
1984
50
Molecular genetics of human serum albumin: restriction enzyme fragment length polymorphisms and analbuminemia. ( 6310605 )
1983

Variations for Analbuminemia

ClinVar genetic disease variations for Analbuminemia:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ALB NM_000477.6(ALB): c.714-2A> G single nucleotide variant Pathogenic rs77335374 GRCh37 Chromosome 4, 74277711: 74277711
2 ALB NM_000477.5(ALB): c.872dupA (p.Asn291Lysfs) duplication Pathogenic rs77449454 GRCh37 Chromosome 4, 74279165: 74279165

Expression for Analbuminemia

Search GEO for disease gene expression data for Analbuminemia.

Pathways for Analbuminemia

Pathways related to Analbuminemia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.44 ALB F2 TTR

GO Terms for Analbuminemia

Cellular components related to Analbuminemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.91 ALB CRP F2 F3 GC GPT
2 extracellular region GO:0005576 9.61 ALB AVP CRP EPO F2 F3
3 blood microparticle GO:0072562 9.46 ALB F2 GC TF
4 extracellular space GO:0005615 9.28 ALB CRP EPO F2 F3 GC

Biological processes related to Analbuminemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of receptor activity GO:0010469 9.46 AVP EPO F2 TTR
2 cellular protein metabolic process GO:0044267 9.26 ALB F2 TF TTR
3 acute-phase response GO:0006953 8.8 CRP EPO F2

Molecular functions related to Analbuminemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 8.8 AVP EPO TTR

Sources for Analbuminemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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