ANALBA
MCID: ANL018
MIFTS: 44

Analbuminemia (ANALBA) malady

Categories: Genetic diseases, Blood diseases, Rare diseases

Aliases & Classifications for Analbuminemia

Aliases & Descriptions for Analbuminemia:

Name: Analbuminemia 54 66 29
Hypoalbuminemia 42 69
Congenital Analbuminemia 56
Analba 66

Characteristics:

Orphanet epidemiological data:

56
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 54 616000
Orphanet 56 ORPHA86816
ICD10 via Orphanet 34 R77.0
MedGen 40 C0878666
MeSH 42 D034141

Summaries for Analbuminemia

OMIM : 54 Analbuminemia is a rare autosomal recessive disorder manifested by the presence of a very low amount of circulating... (616000) more...

MalaCards based summary : Analbuminemia, also known as hypoalbuminemia, is related to capillary leak syndrome and congenital analbuminemia, and has symptoms including fatigue, hypotension and osteoporosis. An important gene associated with Analbuminemia is ALB (Albumin), and among its related pathways/superpathways is FOXA2 and FOXA3 transcription factor networks. The drugs Esomeprazole and Omeprazole have been mentioned in the context of this disorder. Affiliated tissues include testes and pituitary, and related phenotypes are Increased shRNA abundance and homeostasis/metabolism

UniProtKB/Swiss-Prot : 66 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 159)
id Related Disease Score Top Affiliating Genes
1 capillary leak syndrome 31.9 ALB CRP
2 congenital analbuminemia 12.2
3 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 12.2
4 nephrotic syndrome, type 6 10.8
5 nephrotic syndrome, type 2 10.8
6 nephrotic syndrome, type 9 10.8
7 nephrotic syndrome, type 1 10.8
8 glomerulosclerosis, focal segmental, 6 10.8
9 nephrotic syndrome, type 3 10.7
10 nephrotic syndrome, type 4 10.7
11 nephrotic syndrome type 11 10.7
12 nephrotic syndrome, type 10 10.7
13 nephrotic syndrome type 12 10.7
14 nephrotic syndrome, type 7 10.7
15 nephrotic syndrome type 13 10.7
16 nephrotic syndrome, type 8 10.7
17 nephrotic syndrome, type 5, with or without ocular abnormalities 10.7
18 glomerulosclerosis, focal segmental, 1 10.7
19 phaeochromocytoma 10.3 ALB TTR
20 nondystrophic myotonia 10.3 ALB F2
21 shoulder impingement syndrome 10.3 ALB CRP
22 acute infection of pinna 10.3 CRP F2
23 polycystic echinococcosis 10.3 F2 TF
24 pharynx carcinoma in situ 10.3 ALB F2
25 citrulline transport defect 10.3 CRP F2
26 synostosis 10.3 CRP F2
27 heterophyiasis 10.3 CRP GPT
28 cataract 10.2 ALB CRP TTR
29 villonodular synovitis 10.2 CRP EPO
30 erythema infectiosum 10.2 ALB CRP TTR
31 familial progressive hyperpigmentation 10.2 F2 GPT
32 male genital organ stricture 10.2 ALB TF TTR
33 choriodal dystrophy, central areolar 2 10.2 TF TTR
34 gastric neuroendocrine tumor type 1 10.2 GPT SLC17A5
35 inner ear disease 10.2 ALB TTR
36 ischemic optic neuropathy 10.2 ALB CRP F2
37 hemoglobin c disease 10.2 CRP TF
38 krauss herman holmes syndrome 10.2 ALB OXA1L
39 focal epithelial hyperplasia 10.2 ALB TF TTR
40 radiation induced cancer 10.2 GPT SLC17A5
41 animal phobia 10.2 EPO SLC17A5
42 tmem216-related meckel syndrome 10.2 EPO TF
43 asbestosis 10.2 ALB CRP F2
44 cerebral sarcoidosis 10.2 ALB EPO TF
45 sclerosing adenosis of breast 10.2 ALB CRP F2
46 body dysmorphic disorder 10.2 ALB CRP TTR
47 poems syndrome 10.2 CRP EPO TF
48 ovarian papillary cystadenoma 10.2 ALB EPO F2
49 hemarthrosis 10.2 F2 F3
50 influenza 10.2 F2 F3

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

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

26
id 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:

44
id 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

Drugs for Analbuminemia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 145)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Esomeprazole Approved, Investigational Phase 4 161796-78-7, 119141-88-7 4594 9579578
2
Omeprazole Approved, Investigational, Vet_approved Phase 4 73590-58-6 4594
3
Caspofungin Approved Phase 4 179463-17-3, 162808-62-0 468682 2826718
4
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
5
Norepinephrine Approved Phase 4 51-41-2 439260
6 Pharmaceutical Solutions Phase 4,Phase 3
7 Antacids Phase 4
8 Anti-Ulcer Agents Phase 4
9 Gastrointestinal Agents Phase 4,Phase 3
10 Hemostatics Phase 4
11
Proton pump inhibitors Phase 4
12 Antifungal Agents Phase 4
13 Anti-Infective Agents Phase 4,Phase 3,Phase 2
14 Echinocandins Phase 4
15 insulin Phase 4
16 Insulin, Globin Zinc Phase 4
17 Mitogens Phase 4,Phase 2
18 Neurotransmitter Agents Phase 4
19 Vasoconstrictor Agents Phase 4
20 Autonomic Agents Phase 4,Phase 3
21 Peripheral Nervous System Agents Phase 4,Phase 3
22 Adrenergic Agents Phase 4
23 Adrenergic Agonists Phase 4
24 Adrenergic alpha-Agonists Phase 4
25
Benzocaine Approved Phase 3 1994-09-7, 94-09-7 2337
26
Cyclophosphamide Approved, Investigational Phase 3,Phase 2 50-18-0, 6055-19-2 2907
27
Mycophenolate mofetil Approved, Investigational Phase 3 128794-94-5 5281078
28
Mycophenolic acid Approved Phase 3 24280-93-1 446541
29
Pentoxifylline Approved, Investigational Phase 3 6493-05-6 4740
30
Lamivudine Approved, Investigational Phase 3 134678-17-4 60825
31
Telbivudine Approved, Investigational Phase 3 3424-98-4 159269
32
Ethanol Approved Phase 3 64-17-5 702
33
Glycerol Approved, Experimental Phase 3 56-81-5 753
34
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 6741
35
Prednisolone Approved, Vet_approved Phase 3 50-24-8 5755
36
Prednisone Approved, Vet_approved Phase 3 53-03-2 5865
37 tannic acid Approved, Nutraceutical Phase 3
38 Alkylating Agents Phase 3,Phase 2
39 Anti-Bacterial Agents Phase 3,Phase 2
40 Antibiotics, Antitubercular Phase 3,Phase 2
41 Antineoplastic Agents, Alkylating Phase 3,Phase 2
42 Antirheumatic Agents Phase 3,Phase 2
43 Immunosuppressive Agents Phase 3,Phase 2
44 Anti-Inflammatory Agents Phase 3
45 Antioxidants Phase 3
46 Chelating Agents Phase 3
47 Phosphodiesterase Inhibitors Phase 3
48 Platelet Aggregation Inhibitors Phase 3
49 Protective Agents Phase 3
50 Radiation-Protective Agents Phase 3

Interventional clinical trials:

(show all 36)
id Name Status NCT ID Phase
1 Hypoalbuminemia in Burn Patients Unknown status NCT01436292 Phase 4
2 The Therapeutic Role of Intravenous Albumin Administration for Peptic Ulcer Bleeding Patients With Hypoalbuminemia Completed NCT01822600 Phase 4
3 Optimal Dosage of Caspofungin in Critically Ill Patients Completed NCT01994096 Phase 4
4 Very Low Protein Diet or Dialysis in Uremic Elderly? Completed NCT00388648 Phase 4
5 The Effect of Ophiocephalus Striatus Extract on Levels of IGF-1, Albumin, and MNA Score in Elderly With Malnutrition Completed NCT03065595 Phase 4
6 Effect of Albumin Administration on Vasopressor Duration in Resolving Septic Shock Recruiting NCT02716597 Phase 4
7 SUbstition of PERioperative Albumin Deficiency Disorders Not yet recruiting NCT03167645 Phase 4
8 Optimization of Therapeutic Human Serum Albumin Infusion in Selected Critically Ill Patients Not yet recruiting NCT02755155 Phase 4
9 Volume Replacement With Albumin in Severe Sepsis Completed NCT00707122 Phase 3
10 Cyclophosphamide Versus Mycophenolate Mofetil for the Treatment of Steroid-dependent Nephrotic Syndrome in Children Completed NCT01092962 Phase 3
11 Anit-Inflammatory and Anti-Oxidative Nutrition in Dialysis Patients Completed NCT00561093 Phase 3
12 A Comparison of the Drug Telbivudine (LdT) and Lamivudine in Adults With Decompensated Chronic Hepatitis B and Evidence of Cirrhosis. Completed NCT00275652 Phase 3
13 Effect of W-3 Polyunsaturated Fatty Acids on Serum Albumin Concentration in Patients With Acute Heart Failure, Hypoalbuminemia, and High Inflammatory Activity Recruiting NCT02708771 Phase 3
14 Evolution of Albumin on AOA1 Patients Supplemented With Coenzyme Q10 Recruiting NCT02333305 Phase 3
15 Prednisolone Trial in Children Younger Than 4 Years Recruiting NCT03141970 Phase 3
16 The Effect of Thalidomide in Suppression of the Systemic Inflammatory Response Syndrome in Hemodialysis Patients Terminated NCT00529633 Phase 3
17 Effect of Non-Surgical Periodontal Therapy on Serum Albumin Levels of Patients on Maintenance Hemodialysis Therapy, Unknown status NCT01641757 Phase 2
18 A Phase II, Double-blinded, Randomized, Controlled Study to Evaluate the Efficacy and Safety of Vitalliver in Patients With Decompensated Cirrhosis Completed NCT00562783 Phase 2
19 Cetuximab and Lenalidomide in Head and Neck Completed NCT01133665 Phase 2
20 Evaluation of an Anti-cancer Immunotherapy Combined With Standard Neoadjuvant Treatment in Patients With WT1-positive Primary Invasive Breast Cancer Terminated NCT01220128 Phase 2
21 A Study of Safety and Clinical Activity of Immunotherapy Plus Chemotherapy in Metastatic Melanoma Patients Terminated NCT00849875 Phase 2
22 Pharmacokinetics and Pharmacodynamics of Apixaban in Nephrotic Syndrome Recruiting NCT02599532 Phase 1
23 Acid Base Balance of ICU Patients With Severe Hypoalbuminemia, Before and After an Albumin Infusion, Using Stewart Approach Unknown status NCT02288494
24 Impact of Providing High Protein Bar to Dialysis Patients With Low Serum Albumin Unknown status NCT00597025
25 Valproic Acid-associated Hypoalbuminemia in Medically Fragile Patients Completed NCT00723762
26 Hyponatremia and Hypoalbuminemia is Morbimortality Predictors in Coronary Artery Bypass Graft Surgery Completed NCT02765061
27 Plasma Protein Binding Characteristics of Voriconazole Completed NCT01812473
28 Total Body Albumin Measurement Utilizing a Modification of the BVA 100 Blood Volume Analyzer Completed NCT01542749
29 An Observational Study of the Role of Intra-abdominal Pressure Monitoring in Patients With Acute Pancreatitis Completed NCT01611532
30 Body Composition and Serum Biochemistry After Intravenous Infusion or Oral Intake of Saline in Healthy Volunteers Completed NCT01539798
31 Fosrenol for Enhancing Dietary Protein Intake in Hypoalbuminemic Dialysis Patients (FrEDI) Study Completed NCT01116947
32 Mitochondrial Function in Patients With Severe Liver Disease Recruiting NCT02457702
33 Evaluation of the Pharmacokinetics of Caspofungin in ICU Patients Recruiting NCT02596984
34 Pharmacokinetics of Vancomycin in ICU Patients Active, not recruiting NCT02844192
35 Effect of Cervical Epidural Analgesia on the Occurrence of Pharyngocutaneous Fistula Not yet recruiting NCT02870556
36 Effects of Fluid Balance Control in Critically Ill Patients Not yet recruiting NCT02765009

Search NIH Clinical Center for Analbuminemia

Cochrane evidence based reviews: hypoalbuminemia

Genetic Tests for Analbuminemia

Genetic tests related to Analbuminemia:

id Genetic test Affiliating Genes
1 Analbuminemia 29

Anatomical Context for Analbuminemia

MalaCards organs/tissues related to Analbuminemia:

39
Testes, Pituitary

Publications for Analbuminemia

Articles related to Analbuminemia:

(show top 50) (show all 74)
id Title Authors Year
1
A nucleotide deletion and frame-shift cause analbuminemia in a Turkish family. ( 27346974 )
2016
2
ANNALS EXPRESS: A novel splicing mutation in the albumin gene (c.270+1G>T) causes analbuminemia in a German infant. ( 26543026 )
2015
3
Congenital analbuminemia caused by a novel aberrant splicing in the albumin gene. ( 24627724 )
2014
4
Treatment of a patient with congenital analbuminemia with atorvastatin and albumin infusion. ( 24303462 )
2013
5
A novel mutation in the albumin gene (c.1A>C) resulting in analbuminemia. ( 23176518 )
2013
6
Detection of a novel splicing mutation causing analbuminemia in a Libyan family. ( 22613267 )
2012
7
A novel splicing mutation causes analbuminemia in a Portuguese boy. ( 22227324 )
2012
8
A two-base-pairs deletion in the albumin gene causes a new case of analbuminemia. ( 23093284 )
2012
9
Perinatal and childhood morbidity and mortality in congenital analbuminemia. ( 23730173 )
2012
10
Molecular diagnosis of analbuminemia: a new case caused by a nonsense mutation in the albumin gene. ( 22174600 )
2011
11
Coronary artery bypass surgery in a patient with analbuminemia. ( 21423479 )
2011
12
A novel frameshift deletion in the albumin gene causes analbuminemia in a young Turkish woman. ( 20638375 )
2010
13
Location of the mutation site in the first two reported cases of analbuminemia. ( 20025859 )
2010
14
A novel nonsense mutation in the albumin gene (c.1275 C>A) causing analbuminemia in a Tunisian boy. ( 19803814 )
2009
15
Congenital analbuminemia with acute glomerulonephritis: a diagnostic challenge. ( 18791744 )
2009
16
Analbuminemia in a Swedish male is caused by the Kayseri mutation (c228_229delAT). ( 18602380 )
2008
17
Analbuminemia Zonguldak: case report and mutational analysis. ( 18154732 )
2008
18
A boy with congenital analbuminemia and steroid-sensitive idiopathic nephrotic syndrome: an experiment of nature. ( 17952464 )
2008
19
Toxicokintic and toxicodynamic analysis of clofibrate based on free drug concentrations in nagase analbuminemia rats (NAR). ( 18670166 )
2008
20
Novel frameshift in the serum albumin gene results in analbuminemia through premature truncation and post translational modification. ( 18801349 )
2008
21
Genetical analbuminemia is not an appropriate model for hypoalbuminemia in critically ill patients. ( 17998381 )
2007
22
Analbuminemia presenting with severe hypercholesterolemia: a risk for atherosclerosis? ( 17451149 )
2007
23
Analbuminemia produced by a novel splicing mutation. ( 17644793 )
2007
24
Albumin locust valley: a new case of analbuminemia. ( 16713595 )
2006
25
Analbuminemia in a Slovak Romany (gypsy) family: case report and mutational analysis. ( 16183048 )
2006
26
A speculation about hypercholesterolemia in congenital analbuminemia. ( 16443434 )
2006
27
Analbuminemia in a Swiss family is caused by a C --> T transition at nucleotide 4446 of the albumin gene. ( 15996651 )
2005
28
Congenital analbuminemia attributable to compound heterozygosity for novel mutations in the albumin gene. ( 15976105 )
2005
29
Novel nonsense mutation causes analbuminemia in a Moroccan family. ( 15613718 )
2005
30
Effects of gender on hepatic HMG-CoA reductase, cholesterol 7alpha-hydroxylase, and LDL receptor in hereditary analbuminemia. ( 16030068 )
2005
31
Treatment of severe hypercholesterolemia with atorvastatin in congenital analbuminemia. ( 15541334 )
2004
32
HMG-CoA reductase, cholesterol 7alpha-hydroxylase, LCAT, ACAT, LDL receptor, and SRB-1 in hereditary analbuminemia. ( 12787409 )
2003
33
Transplantation of hepatocytes cultured on hydroxyapatite into Nagase analbuminemia rats. ( 16233488 )
2003
34
A novel splicing mutation causes an undescribed type of analbuminemia. ( 11781148 )
2002
35
Molecular diagnosis of analbuminemia: a novel mutation identified in two Amerindian and two Turkish families. ( 12028999 )
2002
36
Influence of methodology on the detection and diagnosis of congenital analbuminemia. ( 9799768 )
1998
37
Lipoprotein kinetics in patients with analbuminemia. Evidence for the role of serum albumin in controlling lipoprotein metabolism. ( 9261269 )
1997
38
Bennhold's analbuminemia: a follow-up study of the first two cases (1953-1992). ( 8621984 )
1996
39
Amelioration of analbuminemia by transplantation of allogeneic hepatocytes in tolerized rats. ( 7762076 )
1995
40
Analbuminemia: three cases resulting from different point mutations in the albumin gene. ( 7937781 )
1994
41
A nucleotide insertion and frameshift cause analbuminemia in an Italian family. ( 8134387 )
1994
42
Analbuminemia does not significantly influence hepatocarcinogenesis on comparing F344 rats and a congenic line carrying the analbuminemic mutation. ( 8313513 )
1994
43
Radioimmunoassay measurement of albumin in urine is a valid method for monitoring analbuminemia in rats. ( 1569211 )
1992
44
Receptor-mediated gene delivery in vivo. Partial correction of genetic analbuminemia in Nagase rats. ( 1860843 )
1991
45
Splicing mutation in human hereditary analbuminemia. ( 3353369 )
1988
46
Reduced activity of androgen biosynthesis in the testes of rats with analbuminemia. ( 3084876 )
1986
47
Bile acid profiles in analbuminemia rats. ( 3997792 )
1985
48
Hormone levels of anterior pituitary gland and serum in Nagase analbuminemia rats. ( 6430688 )
1984
49
Molecular genetics of human serum albumin: restriction enzyme fragment length polymorphisms and analbuminemia. ( 6310605 )
1983
50
Turnover of autologous alpha 1-antitrypsin in a patient with congenital analbuminemia. ( 6603561 )
1983

Variations for Analbuminemia

ClinVar genetic disease variations for Analbuminemia:

6
id 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:

id 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:

id 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 9.32 ALB AVP CRP EPO F2 F3

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

id Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.26 ALB F2 TF TTR
2 sodium-independent organic anion transport GO:0043252 9.16 ALB AVP
3 acute-phase response GO:0006953 8.8 CRP EPO F2

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

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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