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 57 75 29 6 40
Hypoalbuminemia 44 73
Analba 57 75
Congenital Analbuminemia 59

Characteristics:

Orphanet epidemiological data:

59
congenital analbuminemia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

HPO:

32
analbuminemia:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 616000
Orphanet 59 ORPHA86816
ICD10 via Orphanet 34 R77.0
MedGen 42 C0878666
MeSH 44 D034141
UMLS 73 C0239981

Summaries for Analbuminemia

OMIM : 57 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 purpura. 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 : 75 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 : 76 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 312)
# Related Disease Score Top Affiliating Genes
1 portal hypertension 30.1 ALB F2 GPT
2 purpura 30.0 CRP F2 F3
3 burns 29.9 CRP TTR
4 respiratory failure 29.9 ALB CRP F3 TTR
5 kidney disease 29.8 ALB CRP EPO NPHS1 TF TTR
6 hypersplenism 29.7 ALB EPO F2
7 chronic kidney failure 29.7 ALB CRP EPO NPHS1 TF TTR
8 cholecystitis 29.7 ALB F2 GPT
9 membranous nephropathy 29.7 ALB NPHS1 TF
10 uremia 29.6 ALB CRP EPO TF
11 deficiency anemia 29.6 ALB CRP EPO TF
12 infantile liver failure syndrome 1 29.5 ALB F2 GPT SLC17A5
13 hepatitis b 29.5 ALB F2 GPT SLC17A5
14 scrub typhus 29.4 CRP F3 GPT SLC17A5
15 liver disease 29.3 ALB F2 F3 GPT SLC17A5 TF
16 acute liver failure 29.1 ALB F2 GC GPT SLC17A5
17 liver cirrhosis 28.5 ALB AVP F2 F3 GPT SLC17A5
18 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 12.5
19 congenital analbuminemia 12.5
20 focal segmental glomerulosclerosis 1 11.2
21 systemic capillary leak syndrome 11.2
22 nephrotic syndrome, type 1 11.1
23 nephrotic syndrome, type 2 11.1
24 focal segmental glomerulosclerosis 6 11.1
25 nephrotic syndrome, type 6 11.1
26 nephrotic syndrome, type 9 11.1
27 nephrotic syndrome, type 4 10.9
28 glomerulopathy with fibronectin deposits 2 10.9
29 nephrotic syndrome, type 3 10.9
30 nephrotic syndrome, type 5, with or without ocular abnormalities 10.9
31 nephrotic syndrome, type 7 10.9
32 nephrotic syndrome, type 8 10.9
33 nephrotic syndrome, type 10 10.9
34 nephrotic syndrome, type 11 10.9
35 nephrotic syndrome, type 12 10.9
36 nephrotic syndrome, type 13 10.9
37 nephrotic syndrome, type 14 10.9
38 nephrotic syndrome, type 15 10.9
39 nephrotic syndrome, type 16 10.9
40 dengue disease 10.9
41 paramyloidosis 10.3 ALB TTR
42 gastrointestinal tuberculosis 10.3 ALB CRP
43 antipyrine metabolism 10.3 ALB F2
44 pyuria 10.3 ALB CRP
45 non-a-e hepatitis 10.3 ALB F2
46 malignant otitis externa 10.3 CRP F2
47 yellow nail syndrome 10.3 ALB TF
48 chronic thromboembolic pulmonary hypertension 10.3 CRP F2
49 aleutian mink disease 10.2 ALB TTR
50 keratomalacia 10.2 TF TTR

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:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 hypotension 32 HP:0002615
2 fatigue 32 HP:0012378
3 osteoporosis 32 HP:0000939
4 lipodystrophy 32 HP:0009125
5 hyperlipidemia 32 HP:0003077
6 hypoalbuminemia 32 HP:0003073

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

26
# 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:

46
# 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 73 / NDF-RT 51 :


Cochrane evidence based reviews: hypoalbuminemia

Genetic Tests for Analbuminemia

Genetic tests related to Analbuminemia:

# Genetic test Affiliating Genes
1 Analbuminemia 29 ALB

Anatomical Context for Analbuminemia

MalaCards organs/tissues related to Analbuminemia:

41
Kidney, Liver, Heart, Spinal Cord, Pituitary, Thyroid, Pancreas

Publications for Analbuminemia

Articles related to Analbuminemia:

(show top 50) (show all 425)
# 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 novel insertion (c.1098dupT) in the albumin gene causes analbuminemia in a consanguineous family. ( 29981851 )
2018
3
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
4
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
5
Proteinuria, Hypoalbuminemia, and Chronic Lymphocytic Leukemia: An Unusual Trio. ( 29568782 )
2018
6
Hypoalbuminemia is related to inflammation rather than malnutrition in sarcoidosis. ( 29703691 )
2018
7
Prevalence of hypoalbuminemia in outpatients with HIV/AIDS. ( 29768554 )
2018
8
Pre-operative core muscle index in combination with hypoalbuminemia is associated with poor prognosis in advanced ovarian cancer. ( 29409111 )
2018
9
The Clinical Significance of Low Serum Arachidonic Acid in Sepsis Patients with Hypoalbuminemia. ( 29491308 )
2018
10
Effect of Oral Branched-Chain Amino Acids on Serum Albumin Concentration in Heart Failure Patients with Hypoalbuminemia: Results of a Preliminary Study. ( 29511994 )
2018
11
Should patients with hypoalbuminemia undergo LVAD implantation? ( 29900590 )
2018
12
Early postoperative hypoalbuminemia is a risk factor for postoperative acute kidney injury following hip fracture surgery. ( 29908852 )
2018
13
Anemia and hypoalbuminemia as risk factors for left ventricular diastolic dysfunction in children with chronic kidney disease on peritoneal dialysis. ( 30032857 )
2018
14
Hypoalbuminemia as a predictor of acute kidney injury during colistin treatment. ( 30097635 )
2018
15
Hypoalbuminemia: a price worth paying for improved dialytic removal of middle-molecular-weight uremic toxins? ( 30102329 )
2018
16
The importance of hypoalbuminemia in peritoneal dialysis patients: Impact of gender. ( 30106520 )
2018
17
Preoperative Hypoalbuminemia Predicts Poor Short-term Outcomes for Hip Fracture Surgery. ( 30222797 )
2018
18
Hypoalbuminemia: Pathogenesis and Clinical Significance. ( 30288759 )
2018
19
In reply to: "Meyer CP et al., The association of hypoalbuminemia with early perioperative outcomes - A comprehensive assessment across 16 major procedures". ( 28082008 )
2018
20
Association of preoperative hypoalbuminemia with postoperative acute kidney injury in patients undergoing brain tumor surgery: a retrospective study. ( 28474996 )
2018
21
Hypoalbuminemia is a predictor of mortality and rebleeding in peptic ulcer bleeding under proton pump inhibitor use. ( 28751088 )
2018
22
Markers of nutritional status and mortality in older adults: The role of anemia and hypoalbuminemia. ( 28782162 )
2018
23
Hypoalbuminemia is a Predictive Factor for Fistula Formation in Recurrent Cervical Cancer. ( 28817390 )
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
Hypoalbuminemia Predicts Perioperative Morbidity and Mortality after Infrainguinal Lower Extremity Bypass for Critical Limb Ischemia. ( 28242402 )
2017
35
Obesity and morbid obesity associated with higher odds of hypoalbuminemia in adults without liver disease or renal failure. ( 29184425 )
2017
36
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
37
Prognostic value of hypoalbuminemia for adverse outcomes in patients with rheumatic heart disease undergoing valve replacement surgery. ( 28512327 )
2017
38
Preoperative hypoalbuminemia is associated with poor clinical outcomes after open and endovascular abdominal aortic aneurysm repair. ( 28216349 )
2017
39
Strongyloides stercoralis hyperinfection: An often missed but potentially fatal cause of anemia and hypoalbuminemia in leprosy patients on long-term steroid therapy. ( 28366925 )
2017
40
Valproate serum concentrations in patients with hypoalbuminemia and medical complications. ( 29955492 )
2017
41
Preoperative hypoalbuminemia is associated with worse outcomes in colon cancer patients. ( 27612919 )
2017
42
Hypoalbuminemia: a risk factor for acute kidney injury development and progression to chronic kidney disease in critically ill patients. ( 27817055 )
2017
43
Treating Hypoalbuminemia. ( 27890435 )
2017
44
Prognostic Value of Hypoalbuminemia After Transcatheter Aortic Valve Implantation (from the Japanese Multicenter OCEAN-TAVI Registry). ( 28017301 )
2017
45
Severe hypoalbuminemia and steatohepatitis leading to death in a young vegetarian female, 8 months after mini gastric bypass: A case report. ( 28088126 )
2017
46
Hypoalbuminemia Is a Better Predictor than Obesity of Complications After Total Knee Arthroplasty: a Propensity Score-Adjusted Observational Analysis. ( 28167877 )
2017
47
Histopathologic Characteristics of Intestinal Biopsy Samples from Dogs With Chronic Inflammatory Enteropathy With and Without Hypoalbuminemia. ( 28256026 )
2017
48
Significance of admission hypoalbuminemia in acute intracerebral hemorrhage. ( 28283821 )
2017
49
Preoperative Hypoalbuminemia is a Risk Factor for Early and Late Mortality in Patients Undergoing Endovascular Juxtarenal and Thoracoabdominal Aortic Aneurysm Repair. ( 28359793 )
2017
50
Pseudohypocalcemia in Cancer Patients: A Recommendation for the Postanalytical Correction of Serum Calcium in Patients with Hypoalbuminemia. ( 28515104 )
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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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