ANALBA
MCID: ANL018
MIFTS: 44

Analbuminemia (ANALBA)

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

Aliases & Classifications for Analbuminemia

MalaCards integrated aliases for Analbuminemia:

Name: Analbuminemia 58 76 30 13 6 41
Hypoalbuminemia 45 74
Analba 58 76
Congenital Analbuminemia 60

Characteristics:

Orphanet epidemiological data:

60
congenital analbuminemia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

HPO:

33
analbuminemia:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 616000
MeSH 45 D034141
ICD10 via Orphanet 35 R77.0
Orphanet 60 ORPHA86816
MedGen 43 C0878666
UMLS 74 C0239981

Summaries for Analbuminemia

OMIM : 58 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 portal hypertension and homocysteinemia. 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 liver, heart and kidney, and related phenotypes are hypotension and fatigue

UniProtKB/Swiss-Prot : 76 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.

Wikipedia : 77 Analbuminaemia or analbuminemia is a genetically inherited metabolic defect characterised by an impaired... more...

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 327)
# Related Disease Score Top Affiliating Genes
1 portal hypertension 30.2 ALB F2 GPT
2 homocysteinemia 30.2 ALB CRP F2
3 burns 30.2 ALB TTR
4 deficiency anemia 30.2 ALB CRP EPO TF
5 purpura 30.1 CRP F2 F3
6 hypersplenism 29.9 ALB EPO F2
7 cholecystitis 29.8 ALB F2 GPT
8 membranous nephropathy 29.8 ALB NPHS1 TF
9 respiratory failure 29.8 ALB CRP F3 TTR
10 uremia 29.7 ALB CRP EPO TF
11 kidney disease 29.6 ALB CRP EPO NPHS1 TF TTR
12 chronic kidney failure 29.6 ALB CRP EPO NPHS1 TF TTR
13 infantile liver failure syndrome 1 29.5 ALB F2 GPT SLC17A5
14 bilirubin metabolic disorder 29.5 ALB F2 GPT SLC17A5
15 hepatitis b 29.5 ALB F2 GPT SLC17A5
16 scrub typhus 29.3 CRP F3 GPT SLC17A5
17 end stage renal failure 29.3 ALB CRP EPO NPHS1 TF
18 liver disease 29.1 ALB F2 F3 GPT SLC17A5 TF
19 acute liver failure 28.8 ALB F2 GC GPT SLC17A5
20 liver cirrhosis 28.1 ALB AVP F2 F3 GPT SLC17A5
21 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 12.7
22 congenital analbuminemia 12.6
23 diarrhea 10, protein-losing enteropathy type 11.4
24 focal segmental glomerulosclerosis 1 11.3
25 systemic capillary leak syndrome 11.3
26 nephrotic syndrome, type 2 11.2
27 nephrotic syndrome, type 9 11.2
28 nephrotic syndrome, type 1 11.1
29 focal segmental glomerulosclerosis 6 11.1
30 nephrotic syndrome, type 6 11.1
31 nephrotic syndrome, type 4 10.9
32 glomerulopathy with fibronectin deposits 2 10.9
33 nephrotic syndrome, type 3 10.9
34 nephrotic syndrome, type 5, with or without ocular abnormalities 10.9
35 nephrotic syndrome, type 7 10.9
36 nephrotic syndrome, type 8 10.9
37 nephrotic syndrome, type 10 10.9
38 nephrotic syndrome, type 11 10.9
39 nephrotic syndrome, type 12 10.9
40 nephrotic syndrome, type 13 10.9
41 nephrotic syndrome, type 14 10.9
42 nephrotic syndrome, type 15 10.9
43 nephrotic syndrome, type 16 10.9
44 nephrotic syndrome, type 17 10.9
45 nephrotic syndrome, type 18 10.9
46 nephrotic syndrome, type 19 10.9
47 dengue disease 10.9
48 paramyloidosis 10.4 ALB TTR
49 gastrointestinal tuberculosis 10.4 ALB CRP
50 antipyrine metabolism 10.4 ALB F2

Graphical network of the top 20 diseases related to Analbuminemia:



Diseases related to Analbuminemia

Symptoms & Phenotypes for Analbuminemia

Human phenotypes related to Analbuminemia:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 hypotension 33 HP:0002615
2 fatigue 33 HP:0012378
3 osteoporosis 33 HP:0000939
4 lipodystrophy 33 HP:0009125
5 hyperlipidemia 33 HP:0003077
6 hypoalbuminemia 33 HP:0003073

Clinical features from OMIM:

616000

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

27
# 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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.4 ALB APTX AVP CRP EPO F2

Drugs & Therapeutics for Analbuminemia

Search Clinical Trials , NIH Clinical Center for Analbuminemia

Inferred drug relations via UMLS 74 / NDF-RT 52 :


Cochrane evidence based reviews: hypoalbuminemia

Genetic Tests for Analbuminemia

Genetic tests related to Analbuminemia:

# Genetic test Affiliating Genes
1 Analbuminemia 30 ALB

Anatomical Context for Analbuminemia

MalaCards organs/tissues related to Analbuminemia:

42
Liver, Heart, Kidney, Bone, Pituitary, Testes, Pancreas

Publications for Analbuminemia

Articles related to Analbuminemia:

(show top 50) (show all 78)
# 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
[A further case of analbuminemia]. ( 10842774 )
2000
40
Influence of methodology on the detection and diagnosis of congenital analbuminemia. ( 9799768 )
1998
41
Lipoprotein kinetics in patients with analbuminemia. Evidence for the role of serum albumin in controlling lipoprotein metabolism. ( 9261269 )
1997
42
Bennhold's analbuminemia: a follow-up study of the first two cases (1953-1992). ( 8621984 )
1996
43
Amelioration of analbuminemia by transplantation of allogeneic hepatocytes in tolerized rats. ( 7762076 )
1995
44
Analbuminemia: three cases resulting from different point mutations in the albumin gene. ( 7937781 )
1994
45
A nucleotide insertion and frameshift cause analbuminemia in an Italian family. ( 8134387 )
1994
46
Analbuminemia does not significantly influence hepatocarcinogenesis on comparing F344 rats and a congenic line carrying the analbuminemic mutation. ( 8313513 )
1994
47
Radioimmunoassay measurement of albumin in urine is a valid method for monitoring analbuminemia in rats. ( 1569211 )
1992
48
Receptor-mediated gene delivery in vivo. Partial correction of genetic analbuminemia in Nagase rats. ( 1860843 )
1991
49
Splicing mutation in human hereditary analbuminemia. ( 3353369 )
1988
50
Reduced activity of androgen biosynthesis in the testes of rats with analbuminemia. ( 3084876 )
1986

Variations for Analbuminemia

ClinVar genetic disease variations for Analbuminemia:

6 (show all 22)
# 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_000477.6(ALB): c.714-2A> G single nucleotide variant Pathogenic rs77335374 GRCh38 Chromosome 4, 73411994: 73411994
3 ALB NM_000477.5(ALB): c.872dupA (p.Asn291Lysfs) duplication Pathogenic rs77449454 GRCh37 Chromosome 4, 74279165: 74279165
4 ALB NM_000477.5(ALB): c.872dupA (p.Asn291Lysfs) duplication Pathogenic rs77449454 GRCh38 Chromosome 4, 73413448: 73413448
5 ALB NM_000477.6(ALB): c.1275C> A (p.Tyr425Ter) single nucleotide variant not provided rs281860283 GRCh38 Chromosome 4, 73416339: 73416339
6 ALB NM_000477.6(ALB): c.1275C> A (p.Tyr425Ter) single nucleotide variant not provided rs281860283 GRCh37 Chromosome 4, 74282056: 74282056
7 ALB NM_000477.6(ALB): c.1428+2T> C single nucleotide variant not provided rs78784172 GRCh38 Chromosome 4, 73417671: 73417671
8 ALB NM_000477.6(ALB): c.1428+2T> C single nucleotide variant not provided rs78784172 GRCh37 Chromosome 4, 74283388: 74283388
9 ALB NM_000477.6(ALB): c.1610delT (p.Ile537Asnfs) deletion not provided rs77081291 GRCh38 Chromosome 4, 73418269: 73418269
10 ALB NM_000477.6(ALB): c.1610delT (p.Ile537Asnfs) deletion not provided rs77081291 GRCh37 Chromosome 4, 74283986: 74283986
11 ALB NM_000477.6(ALB): c.166C> T (p.Gln56Ter) single nucleotide variant not provided rs75470261 GRCh38 Chromosome 4, 73406657: 73406657
12 ALB NM_000477.6(ALB): c.166C> T (p.Gln56Ter) single nucleotide variant not provided rs75470261 GRCh37 Chromosome 4, 74272374: 74272374
13 ALB NM_000477.6(ALB): c.228_229delAT (p.Val78Cysfs) deletion not provided rs75152012 GRCh38 Chromosome 4, 73406719: 73406720
14 ALB NM_000477.6(ALB): c.228_229delAT (p.Val78Cysfs) deletion not provided rs75152012 GRCh37 Chromosome 4, 74272436: 74272437
15 ALB NM_000477.6(ALB): c.412C> T (p.Arg138Ter) single nucleotide variant Pathogenic rs77238412 GRCh38 Chromosome 4, 73408735: 73408735
16 ALB NM_000477.6(ALB): c.412C> T (p.Arg138Ter) single nucleotide variant Pathogenic rs77238412 GRCh37 Chromosome 4, 74274452: 74274452
17 ALB NM_000477.6(ALB): c.597T> A (p.Ala199=) single nucleotide variant not provided rs281860282 GRCh37 Chromosome 4, 74275186: 74275186
18 ALB NM_000477.6(ALB): c.597T> A (p.Ala199=) single nucleotide variant not provided rs281860282 GRCh38 Chromosome 4, 73409469: 73409469
19 ALB NM_000477.6(ALB): c.714G> A (p.Trp238Ter) single nucleotide variant not provided rs76454301 GRCh38 Chromosome 4, 73411996: 73411996
20 ALB NM_000477.6(ALB): c.714G> A (p.Trp238Ter) single nucleotide variant not provided rs76454301 GRCh37 Chromosome 4, 74277713: 74277713
21 ALB NM_000477.6(ALB): c.802G> T (p.Glu268Ter) single nucleotide variant not provided rs78340021 GRCh37 Chromosome 4, 74277801: 74277801
22 ALB NM_000477.6(ALB): c.802G> T (p.Glu268Ter) single nucleotide variant not provided rs78340021 GRCh38 Chromosome 4, 73412084: 73412084

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 9.8 ALB F2 GC GPT NPHS1 TF
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 9.32 ALB AVP CRP EPO F2 F3

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

# Name GO ID Score Top Affiliating Genes
1 regulation of signaling 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
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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