ANALBA
MCID: ANL018
MIFTS: 48

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 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 burns. 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 kidney, liver and heart, 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 324)
# Related Disease Score Top Affiliating Genes
1 portal hypertension 30.2 ALB F2 GPT
2 burns 30.1 ALB TTR
3 deficiency anemia 30.1 ALB CRP EPO TF
4 purpura 30.0 CRP F2 F3
5 respiratory failure 29.9 ALB CRP F3 TTR
6 hypersplenism 29.9 ALB EPO F2
7 cholecystitis 29.8 ALB F2 GPT
8 membranous nephropathy 29.8 ALB NPHS1 TF
9 uremia 29.7 ALB CRP EPO TF
10 kidney disease 29.6 ALB CRP EPO NPHS1 TF TTR
11 chronic kidney failure 29.6 ALB CRP EPO NPHS1 TF TTR
12 infantile liver failure syndrome 1 29.5 ALB F2 GPT SLC17A5
13 bilirubin metabolic disorder 29.5 ALB F2 GPT SLC17A5
14 hepatitis b 29.5 ALB F2 GPT SLC17A5
15 scrub typhus 29.3 CRP F3 GPT SLC17A5
16 end stage renal failure 29.3 ALB CRP EPO NPHS1 TF
17 liver disease 29.0 ALB F2 F3 GPT SLC17A5 TF
18 acute liver failure 28.8 ALB F2 GC GPT SLC17A5
19 liver cirrhosis 28.0 ALB AVP F2 F3 GPT SLC17A5
20 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 12.6
21 congenital analbuminemia 12.5
22 focal segmental glomerulosclerosis 1 11.3
23 nephrotic syndrome, type 2 11.2
24 nephrotic syndrome, type 9 11.2
25 nephrotic syndrome, type 1 11.1
26 focal segmental glomerulosclerosis 6 11.1
27 nephrotic syndrome, type 6 11.1
28 diarrhea 10, protein-losing enteropathy type 11.1
29 nephrotic syndrome, type 4 10.9
30 glomerulopathy with fibronectin deposits 2 10.9
31 nephrotic syndrome, type 3 10.9
32 nephrotic syndrome, type 5, with or without ocular abnormalities 10.9
33 nephrotic syndrome, type 7 10.9
34 nephrotic syndrome, type 8 10.9
35 nephrotic syndrome, type 10 10.9
36 nephrotic syndrome, type 11 10.9
37 nephrotic syndrome, type 12 10.9
38 nephrotic syndrome, type 13 10.9
39 nephrotic syndrome, type 14 10.9
40 nephrotic syndrome, type 15 10.9
41 nephrotic syndrome, type 16 10.9
42 nephrotic syndrome, type 17 10.9
43 nephrotic syndrome, type 18 10.9
44 nephrotic syndrome, type 19 10.9
45 dengue disease 10.9
46 systemic capillary leak syndrome 10.9
47 paramyloidosis 10.4 ALB TTR
48 gastrointestinal tuberculosis 10.4 ALB CRP
49 antipyrine metabolism 10.4 ALB F2
50 non-a-e hepatitis 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
Kidney, Liver, Heart, Brain, Colon, Spinal Cord, Whole Blood

Publications for Analbuminemia

Articles related to Analbuminemia:

(show top 50) (show all 432)
# Title Authors Year
1
Congenital analbuminemia in a patient affected by hypercholesterolemia: A case report. ( 30842957 )
2019
2
Hypoalbuminemia for the prediction of venous thromboembolism and treatment of direct oral anticoagulants in metastatic gastric cancer patients. ( 30788749 )
2019
3
Sepsis patients with complication of hypoglycemia and hypoalbuminemia are an early and easy identification of high mortality risk. ( 30729384 )
2019
4
Hypoalbuminemia as a risk factor for thromboembolic events in inflammatory bowel disease inpatients. ( 30678446 )
2019
5
Relationship between Hypoalbuminemia on Admission and Long-term Mortality in Patients with Acute Decompensated Heart Failure. ( 30799337 )
2019
6
Hypoalbuminemia and the Risk of Acute Kidney Injury in Sepsis. ( 30882443 )
2019
7
Hypoalbuminemia as predictor of recurrence of Clostridium difficile infection. ( 30617709 )
2019
8
Hypoalbuminemia Is Associated With Increased Postoperative Mortality and Complications in Hand Surgery. ( 30661387 )
2019
9
Hypoalbuminemia is an Independent Risk Factor for 30-Day Mortality, Postoperative Complications, Readmission, and Reoperation in the Operative Lower Extremity Orthopedic Trauma Patient. ( 30720559 )
2019
10
Congenital Analbuminemia in Unrelated Algerian and Turkish Families is Caused by the Same Molecular Defect in the Albumin Gene. ( 29214768 )
2018
11
A novel insertion (c.1098dupT) in the albumin gene causes analbuminemia in a consanguineous family. ( 29981851 )
2018
12
Severe Cognitive Impairment Associated With a High Free But Therapeutic Total Concentration of Valproic Acid Due to Hypoalbuminemia in an Older Patient With Bipolar Disorder. ( 29621091 )
2018
13
Hypoalbuminemia is a Predictive Factor for Fistula Formation in Recurrent Cervical Cancer. ( 28817390 )
2018
14
Anemia and hypoalbuminemia as risk factors for left ventricular diastolic dysfunction in children with chronic kidney disease on peritoneal dialysis. ( 30032857 )
2018
15
Supplementation with branched-chain amino acids ameliorates hypoalbuminemia, prevents sarcopenia, and reduces fat accumulation in the skeletal muscles of patients with liver cirrhosis. ( 28741271 )
2018
16
Proteinuria, Hypoalbuminemia, and Chronic Lymphocytic Leukemia: An Unusual Trio. ( 29568782 )
2018
17
Pre-operative core muscle index in combination with hypoalbuminemia is associated with poor prognosis in advanced ovarian cancer. ( 29409111 )
2018
18
Hypoalbuminemia is related to inflammation rather than malnutrition in sarcoidosis. ( 29703691 )
2018
19
Prevalence of hypoalbuminemia in outpatients with HIV/AIDS. ( 29768554 )
2018
20
In reply to: "Meyer CP et al., The association of hypoalbuminemia with early perioperative outcomes - A comprehensive assessment across 16 major procedures". ( 28082008 )
2018
21
Association of preoperative hypoalbuminemia with postoperative acute kidney injury in patients undergoing brain tumor surgery: a retrospective study. ( 28474996 )
2018
22
Hypoalbuminemia is a predictor of mortality and rebleeding in peptic ulcer bleeding under proton pump inhibitor use. ( 28751088 )
2018
23
Markers of nutritional status and mortality in older adults: The role of anemia and hypoalbuminemia. ( 28782162 )
2018
24
Comparison of hypoalbuminemia-corrected serum calcium using BCP albumin assay to ionized calcium and impact on prescribing in hemodialysis patients
. ( 28853704 )
2018
25
Hypoalbuminemia Is Associated With Septic Revisions After Primary Surgery and Postoperative Infection After Revision Surgery. ( 29016434 )
2018
26
Hypoalbuminemia at Day +90 Is Associated with Inferior Nonrelapse Mortality and Overall Survival in Allogeneic Hematopoietic Cell Transplantation Recipients: A Confirmatory Study. ( 29032266 )
2018
27
Preoperative severe hypoalbuminemia is associated with an increased risk of postoperative delirium in elderly patients: Results of a secondary analysis. ( 29055835 )
2018
28
Effects of tolvaptan on urine output in hospitalized heart failure patients with hypoalbuminemia or proteinuria. ( 29063302 )
2018
29
Hypoalbuminemia is a predictor of mortality and rebleeding in peptic ulcer bleeding under proton pump inhibitor use: Methodological issues. ( 29175145 )
2018
30
Reply to "Hypoalbuminemia is a predictor of mortality and rebleeding in peptic ulcer bleeding under proton pump inhibitor use: Methodological issues". ( 29183692 )
2018
31
Comments on preoperative severe hypoalbuminemia is associated with an increased risk of postoperative delirium in elderly patients: Results of a secondary analysis. ( 29254738 )
2018
32
Letter to the Editor. Is preoperative hypoalbuminemia really a risk factor associated with acute kidney injury and mortality after brain tumor surgery? ( 29350604 )
2018
33
Hypoalbuminemia is Associated With Significantly Higher Liver Transplant Waitlist Mortality and Lower Probability of Receiving Liver Transplant. ( 29356783 )
2018
34
The Clinical Significance of Low Serum Arachidonic Acid in Sepsis Patients with Hypoalbuminemia. ( 29491308 )
2018
35
Effect of Oral Branched-Chain Amino Acids on Serum Albumin Concentration in Heart Failure Patients with Hypoalbuminemia: Results of a Preliminary Study. ( 29511994 )
2018
36
Should patients with hypoalbuminemia undergo LVAD implantation? ( 29900590 )
2018
37
Early postoperative hypoalbuminemia is a risk factor for postoperative acute kidney injury following hip fracture surgery. ( 29908852 )
2018
38
Hypoalbuminemia as a predictor of acute kidney injury during colistin treatment. ( 30097635 )
2018
39
Hypoalbuminemia: a price worth paying for improved dialytic removal of middle-molecular-weight uremic toxins? ( 30102329 )
2018
40
The importance of hypoalbuminemia in peritoneal dialysis patients: Impact of gender. ( 30106520 )
2018
41
Preoperative Hypoalbuminemia Predicts Poor Short-term Outcomes for Hip Fracture Surgery. ( 30222797 )
2018
42
Hypoalbuminemia: Pathogenesis and Clinical Significance. ( 30288759 )
2018
43
Correlation between measured and calculated free phenytoin serum concentration in neurointensive care patients with hypoalbuminemia. ( 30588130 )
2018
44
Is early postoperative hypoalbuminemia really a risk factor for acute kidney injury after hip fracture surgery? ( 30600087 )
2018
45
Preoperative Hypoalbuminemia is a Risk Factor for Early and Late Mortality in Patients Undergoing Endovascular Juxtarenal and Thoracoabdominal Aortic Aneurysm Repair. ( 28359793 )
2017
46
Preoperative hypoalbuminemia is associated with poor clinical outcomes after open and endovascular abdominal aortic aneurysm repair. ( 28216349 )
2017
47
Hypoalbuminemia Predicts Perioperative Morbidity and Mortality after Infrainguinal Lower Extremity Bypass for Critical Limb Ischemia. ( 28242402 )
2017
48
Obesity and morbid obesity associated with higher odds of hypoalbuminemia in adults without liver disease or renal failure. ( 29184425 )
2017
49
Anemia, hypoalbuminemia, and elevated troponin levels as risk factors for respiratory failure in patients with severe exacerbations of chronic obstructive pulmonary disease requiring invasive mechanical ventilation. ( 29308831 )
2017
50
Prognostic value of hypoalbuminemia for adverse outcomes in patients with rheumatic heart disease undergoing valve replacement surgery. ( 28512327 )
2017

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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