ANALBA
MCID: ANL018
MIFTS: 54

Analbuminemia (ANALBA)

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

Aliases & Classifications for Analbuminemia

MalaCards integrated aliases for Analbuminemia:

Name: Analbuminemia 56 52 73 29 6 39
Analba 56 52 73
Congenital Analbuminemia 52 58
Hypoalbuminemia 43 71

Characteristics:

Orphanet epidemiological data:

58
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:

Orphanet: 58  
Rare haematological diseases


Summaries for Analbuminemia

NIH Rare Diseases : 52 Congenital analbuminemia (CAA) is a rare disorder characterized by the absence or very low levels of human serum albumin (HSA). Although albumin is the most abundant plasma protein and has many functions, patients with CAA present with only a few mild clinical signs, such as fatigue, low blood pressure, and swelling (edema). However, CAA patients may loss fat tissue (lipodystrophy) and present with high cholesterol, which may result in early atherosclerosis and heart problems. Rarely, CAA may be complicated by hypercoagulability (when the blood tends to clot too much), osteoporosis (which causes bones to become weak and brittle) and respiratory tract infections. It is more severe in the fetus or during early infancy. CAA is caused by mutations in the ALB gene . Inheritance is autosomal recessive . Treatment aims to prevent heart and vascular problems and may include s tatins and periodic albumin infusions.

MalaCards based summary : Analbuminemia, also known as analba, is related to deficiency anemia and pulmonary edema. An important gene associated with Analbuminemia is ALB (Albumin), and among its related pathways/superpathways is FOXA2 and FOXA3 transcription factor networks. The drugs Caspofungin and Omeprazole have been mentioned in the context of this disorder. Affiliated tissues include liver, heart and kidney, and related phenotypes are hypoalbuminemia and fatigue

OMIM : 56 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)

UniProtKB/Swiss-Prot : 73 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 : 74 Analbuminaemia or analbuminemia is a genetically inherited metabolic defect characterised by an impaired... more...

Related Diseases for Analbuminemia

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

(show top 50) (show all 587)
# Related Disease Score Top Affiliating Genes
1 deficiency anemia 30.6 TF EPO CRP ALB
2 pulmonary edema 30.3 F2 EPO CRP
3 acute kidney failure 30.3 GPT F2 ALB
4 end stage renal disease 30.3 NPHS1 EPO CRP ALB
5 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 30.3 TTR TF EPO CRP ALB
6 homocysteinemia 30.2 F2 CRP ALB
7 constrictive pericarditis 30.2 CRP ALB
8 peritonitis 30.2 F2 CRP ALB
9 cholecystitis 30.2 GPT F2 ALB
10 acquired immunodeficiency syndrome 30.2 EPO CRP ALB
11 metabolic acidosis 30.1 GPT F2 ALB
12 protein-energy malnutrition 30.1 TTR TF GPT ALB
13 glomerular disease 30.1 NPHS1 ALB
14 cholecystolithiasis 30.1 GPT CRP
15 hemopericardium 30.1 F3 F2
16 neutropenia 30.0 GPT EPO CRP ALB
17 purpura 30.0 F3 F2 CRP
18 thyroid gland disease 29.9 GPT CRP ALB
19 bacterial pneumonia 29.9 GPT CRP ALB
20 thalassemia 29.9 TF GPT F2 EPO
21 uremia 29.9 OXA1L EPO CRP ALB
22 hyperuricemia 29.9 GPT CRP ALB
23 hyperthyroidism 29.8 GPT CRP ALB
24 acute proliferative glomerulonephritis 29.8 NPHS1 CRP ALB
25 rapidly progressive glomerulonephritis 29.8 NPHS1 CRP ALB
26 schistosomiasis 29.8 GPT F2 ALB
27 acute pancreatitis 29.8 GPT CRP ALB
28 myeloma, multiple 29.7 TTR EPO CRP ALB
29 cholestasis 29.7 SLC17A5 GPT F2 ALB
30 portal hypertension 29.7 GPT F3 F2 ALB
31 interstitial lung disease 29.6 TF CRP ALB
32 hypersplenism 29.5 GPT F2 EPO ALB
33 hepatitis b 29.4 SLC17A5 GPT F2 ALB
34 nutritional deficiency disease 29.4 TTR TF F2 EPO CRP ALB
35 active peptic ulcer disease 29.4 F3 F2 CRP ALB
36 tricuspid valve insufficiency 29.4 F3 F2 CRP ALB
37 acute liver failure 29.4 SLC17A5 GPT GC F2 ALB
38 hemolytic anemia 29.4 TF F3 F2 EPO
39 nephrosclerosis 29.3 NPHS1 F3 F2
40 vascular disease 29.2 F3 F2 EPO CRP ALB
41 peripheral nervous system disease 29.2 TTR GPT EPO CRP APTX ALB
42 scrub typhus 29.1 SLC17A5 GPT F3 CRP
43 kwashiorkor 29.1 TTR SLC17A5 GPT F2 CRP ALB
44 acute cystitis 29.1 OXA1L GPT F2 CRP ALB
45 thrombocytosis 29.0 F3 F2 EPO CRP ALB
46 hepatorenal syndrome 29.0 GPT F2 AVP ALB
47 kidney disease 29.0 TTR TF NPHS1 F3 EPO CRP
48 thrombocytopenia 29.0 GPT F3 F2 EPO CRP ALB
49 exanthem 28.9 GPT F3 F2 CRP ALB
50 lipoprotein quantitative trait locus 28.9 GPT F3 F2 CRP ALB

Graphical network of the top 20 diseases related to Analbuminemia:



Diseases related to Analbuminemia

Symptoms & Phenotypes for Analbuminemia

Human phenotypes related to Analbuminemia:

58 31 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypoalbuminemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0003073
2 fatigue 58 31 frequent (33%) Frequent (79-30%) HP:0012378
3 lipodystrophy 58 31 frequent (33%) Frequent (79-30%) HP:0009125
4 hyperlipidemia 58 31 frequent (33%) Frequent (79-30%) HP:0003077
5 hypercholesterolemia 58 31 frequent (33%) Frequent (79-30%) HP:0003124
6 premature birth 58 31 frequent (33%) Frequent (79-30%) HP:0001622
7 pedal edema 58 31 frequent (33%) Frequent (79-30%) HP:0010741
8 small for gestational age 58 31 frequent (33%) Frequent (79-30%) HP:0001518
9 hypoproteinemia 58 31 frequent (33%) Frequent (79-30%) HP:0003075
10 increased alpha-globulin 58 31 frequent (33%) Frequent (79-30%) HP:0005413
11 increased circulating antibody level 31 frequent (33%) HP:0010702
12 obesity 58 31 occasional (7.5%) Occasional (29-5%) HP:0001513
13 oligohydramnios 58 31 occasional (7.5%) Occasional (29-5%) HP:0001562
14 mild global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0011342
15 spontaneous abortion 58 31 occasional (7.5%) Occasional (29-5%) HP:0005268
16 facial edema 58 31 occasional (7.5%) Occasional (29-5%) HP:0000282
17 recurrent lower respiratory tract infections 58 31 occasional (7.5%) Occasional (29-5%) HP:0002783
18 low pulse pressure 58 31 occasional (7.5%) Occasional (29-5%) HP:0030851
19 edema 58 Very frequent (99-80%)
20 osteoporosis 31 HP:0000939
21 increased antibody level in blood 58 Frequent (79-30%)
22 hypotension 31 HP:0002615

Clinical features from OMIM:

616000

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:

45
# 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 184)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Caspofungin Approved Phase 4 162808-62-0, 179463-17-3 2826718 468682
2
Omeprazole Approved, Investigational, Vet_approved Phase 4 73590-58-6 4594
3
Esomeprazole Approved, Investigational Phase 4 161796-78-7, 119141-88-7, 161973-10-0 9568614 4594
4
Norepinephrine Approved Phase 4 51-41-2 439260
5
Mannitol Approved, Investigational Phase 4 69-65-8 6251 453
6
Valine Approved, Nutraceutical Phase 4 72-18-4 6287
7 Omega 3 Fatty Acid Phase 4
8 Plasma-lyte 148 Phase 4
9 Ophthalmic Solutions Phase 4
10 Antacids Phase 4
11 Hemostatics Phase 4
12 Anti-Ulcer Agents Phase 4
13 Insulin, Globin Zinc Phase 4
14 Mitogens Phase 4
15 insulin Phase 4
16 Liver Extracts Phase 4
17 Ferric Compounds Phase 4
18
Leucine Investigational, Nutraceutical Phase 4 61-90-5 6106
19
Isoleucine Investigational, Nutraceutical Phase 4 443-79-8, 73-32-5 6306
20
Rifaximin Approved, Investigational Phase 2, Phase 3 80621-81-4 6436173 46783403
21
Lactulose Approved Phase 2, Phase 3 4618-18-2 11333
22
Ethanol Approved Phase 3 64-17-5 702
23
Pentoxifylline Approved, Investigational Phase 3 6493-05-6 4740
24
tannic acid Approved Phase 3 1401-55-4
25
Benzocaine Approved, Investigational Phase 3 94-09-7, 1994-09-7 2337
26
Prednisolone phosphate Approved, Vet_approved Phase 3 302-25-0
27
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 6741
28
Methylprednisolone hemisuccinate Approved Phase 3 2921-57-5
29
Prednisolone Approved, Vet_approved Phase 3 50-24-8 5755
30 Prednisolone acetate Approved, Vet_approved Phase 3 52-21-1
31
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 3 303-98-0 5281915
32
Prednisolone hemisuccinate Experimental Phase 3 2920-86-7
33
BCG vaccine Investigational Phase 3
34 Eicosapentaenoic acid ethyl ester Phase 3
35 Anti-Infective Agents Phase 3
36 Lecithin Phase 3
37 Ubiquinone Phase 3
38 Phosphodiesterase Inhibitors Phase 3
39 Platelet Aggregation Inhibitors Phase 3
40 Vasodilator Agents Phase 3
41 Radiation-Protective Agents Phase 3
42 Antiviral Agents Phase 3
43 Interferon alpha-2 Phase 3
44 Interferon-alpha Phase 3
45 interferons Phase 3
46 Analgesics Phase 3
47 Bronchodilator Agents Phase 3
48 Methylprednisolone Acetate Phase 3
49 Anti-Bacterial Agents Phase 3
50 Hematinics Phase 3

Interventional clinical trials:

(show top 50) (show all 97)
# Name Status NCT ID Phase Drugs
1 Hypoalbuminemia in Burn Patients: Should we Care? - A Randomized Controlled Clinical Pilot Trial Unknown status NCT01436292 Phase 4 5% human albumin solution (HAS)
2 Influence of Albumin on the Development of Acute Renal Dysfunction Associated With Cardiac Surgery Under Extracorporeal Circulation Unknown status NCT03373318 Phase 4 Human albumin;Plasmalyte
3 the Safety and Effect in TB Patients With NAC Unknown status NCT02889757 Phase 4 Acteylcysteine
4 Influence of Immune Nutrition Diet on 90-Day Outcomes in Patients Undergoing Radical Cystectomy and Bladder Substitutions: A Randomized Controlled Trial Unknown status NCT03147586 Phase 4 Bio-tech and omega-3 plus;placebo
5 The Therapeutic Role of Albumin Supply on Peptic Ulcer Bleeding and the Correlation Between Clinical Course and Expression of Serum Response Factor on Ulcer Tissue and Superoxide Free Radical in Blood Completed NCT01822600 Phase 4 Human albumin;Omeprazole
6 Pharmacokinetics and Optimal Dosage of Caspofungin in Critically Ill Patients With Suspected Invasive Candidiasis Completed NCT01994096 Phase 4 Caspofungin
7 The Effect of Ophicephalus Striatus Extract on Levels of Insulin-like Growth Factor-1 (IGF-1), Albumin, and Mini Nutritional Assessment Score in Elderly Patients With Malnutrition: A Double Blind Randomized Controlled Trial Completed NCT03065595 Phase 4
8 Efficacy and Safety of a Very Low Protein Diet in Postponing Dialysis in Elderly: a Prospective Randomized Multicenter Controlled Study Completed NCT00388648 Phase 4 mixture of amino and keto acids
9 Comparison of Diuretic Effect With Furosemide Alone Versus the Combination of Furosemide and Albumin in Cirrhotic Patients Recruiting NCT04216784 Phase 4 Furosemide Injection;Albumin Human
10 Comparison of 2 Strategies of Therapeutic Human Serum Albumin Infusion in Critically Ill Patients With Severe Systemic Inflammatory Response Syndrome and Low Plasma Albumin: Continuous Low Versus Intermittent High Doses Recruiting NCT02755155 Phase 4 Human serum albumin infusion 4%;Human serum albumin infusion 20%
11 Does Perioperative Substitution of Albumin Deficiency Reduce Postoperative Complications? Recruiting NCT03167645 Phase 4 Human albumin
12 Prevention of Hypoglycemia Among Diabetes Patients Admitted to Internal Medicine Departments, by Means of a Designated Nutritional Care Program Recruiting NCT03802942 Phase 4
13 Treatment of Sarcopenia Improves the Muscle Mass and Muscle Strength of Patients With Liver Cirrhosis- Child C: A Randomized Double Blind Control Trial Recruiting NCT03633279 Phase 4 Branched chain amino acid;Placebo
14 Effect of Velphoro on Serum Phosphate and Albumin in Peritoneal Dialysis Patients Not yet recruiting NCT04046263 Phase 4 Sucroferric Oxyhydroxide Chewable Tablet
15 Effect of W-3 Polyunsaturated Fatty Acids on Serum Albumin Concentration in Patients With Acute Heart Failure, Hypoalbuminemia, and High Inflammatory Activity Unknown status NCT02708771 Phase 3 Polyunsaturated fatty acids omega-3;Placebo
16 Growth Hormone Therapy and Its Effect on Nitrogen Metabolism and Malnutrition in Liver Cirrhosis Unknown status NCT03420144 Phase 2, Phase 3 Standard Medical Therapy;Growth Hormone
17 Evolution of Albumin on AOA1 Patients Supplemented With Coenzyme Q10 Completed NCT02333305 Phase 3
18 Pilot/Feasibility Randomized Control Trial to Examine the Effect of Oral Nutritional Supplements With Anti-inflammatory/Anti-oxidative Properties and Pentoxiphylline on Malnutrition-inflammation-cachexia Syndrome in Maintenance Hemodialysis Patients Completed NCT00561093 Phase 3 pentoxiphylline;Placebo pill imitating pentoxiphylline
19 Efficacy of Albumin Administration for Volume Replacement in Patients With Severe Sepsis or Septic Shock - the ALBumin Italian Outcome Sepsis (ALBIOS) Study Completed NCT00707122 Phase 3
20 Hepatocellular Carcinoma Postoperative Adjuvant Therapy Disease Committee of Taiwan Cooperative Oncology Group Completed NCT00149565 Phase 3 IFN-α2b
21 Effect of Albumin Administration on Outcomes in Hypoalbuminemic Patients Hospitalized With Community-acquired Pneumonia (ALBUCAP): a Prospective, Randomized, Phase III Clinical Controlled Trial. Recruiting NCT04071041 Phase 3 Albumin Human
22 Randomized, Multicentric, Open Label, Parallel Group Trial to Compare the Efficacy of 6-months Versus 3-months Therapy With Prednisolone for the First Episode of Idiopathic Nephrotic Syndrome in Children Younger Than 4 Years Recruiting NCT03141970 Phase 3 Prednisolone
23 Albumin 5% as Resuscitation in Adult Dengue Fever Patients With Plasma Leakage Recruiting NCT04076254 Phase 3 Albumins;Fluid
24 Phase 3 Study: The Effect of Thalidomide in Suppression of the Systemic Inflammatory Response Syndrome in Hemodialysis Patients Terminated NCT00529633 Phase 3 Thalidomide
25 Resistance to ErythroPoietin Effectiveness Algorithm Trial Terminated NCT00319150 Phase 3 erythropoietin
26 Effect of Non-Surgical Periodontal Therapy on Serum Albumin Levels of Patients on Maintenance Hemodialysis Therapy, A Randomized Control Trial Unknown status NCT01641757 Phase 2
27 A Phase 2, Randomised, Single-Blind, Placebo-controlled Study of Half Molar Sodium Lactate Solution in the Treatment of Subjects With Acute Heart Failure Completed NCT01981655 Phase 2 0.5M Sodium lactate;Hartmann's solution
28 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 Vitaliver;Placebo
29 Efficacy and Safety of Dengue Vaccine in Healthy Children Aged 4 to 11 Years in Thailand Completed NCT00842530 Phase 2
30 A Phase II Clinical Trial of Anti-Tac(Fv)-PE38 (LMB-2) Immunotoxin for Treatment of CD25 Positive Chronic Lymphocytic Leukemia Completed NCT00077922 Phase 2 LMB-2
31 Cholecalciferol as a Modifier of Serum Hepcidin in Children With Chronic Kidney Disease Completed NCT01532349 Phase 2 Cholecalciferol
32 A Phase II Clinical Trial of Anti-Tac(Fv)-PE38 (LMB-2) Immunotoxin for Treatment of CD25 Positive Cutaneous T-Cell Lymphomas Completed NCT00080535 Phase 2
33 Natural History Study of the KSHV Inflammatory Cytokine Syndrome (KICS) Incorporating Pilot Evaluation of KSHV Targeted Therapies Recruiting NCT01419561 Phase 2 Zidovudine;Liposomal Doxorubicin;Valganiclovir;Rituximab
34 A Phase 2 Trial of N-Acetylcysteine in Biliary Atresia After Kasai Portoenterostomy Recruiting NCT03499249 Phase 2 N-Acetyl cysteine
35 Efficacy of Chimeric Monoclonal Anti-CD20 Antibodies (Rituximab Biosimilar) in the Treatment of Childhood Steroid-dependent Nephrotic Syndrome and Development of Cell Biomarkers Predicting Outcome. The RTX 4 Trial. Recruiting NCT04402580 Phase 2 Rituximab Biosimilar;Mycophenolate Mofetil
36 A Phase II Clinical Trial of Anti-Tac(Fv)-PE38 (LMB-2) Immunotoxin for CD25 Positive Hairy Cell Leukemia Active, not recruiting NCT00321555 Phase 2 Anti-Tac(Fv)-PE38 (LMB-2) Immunotoxin
37 Impact of Branched-chain Amino Acid Supplementation on Quality of Life and Overall Survival in Patients Receiving Liver Directed Therapy for Hepatocellular Carcinoma Not yet recruiting NCT03908255 Phase 2 Branch Chain Amino Acid
38 Multicenter, Phase II Trial Assessing the Efficacy of Rituximab in HIV Infected Patients With Multicentric Castleman Disease Dependent on Chemotherapy (ANRS 117 Study, CastlemaB) Terminated NCT00127569 Phase 2 Rituximab
39 Prevention of Clostridium Difficile-associated Diarrhea by Daily Intake of Kefir Terminated NCT02707198 Phase 2 kefir
40 Pharmacokinetics of Apixaban in Nephrotic Syndrome Completed NCT02599532 Phase 1 apixaban
41 Assessment of the Efficacy of Lipid-lowering Agents to Limit Lipid Oxidation and Activation of the Clotting System in Patients With the Nephrotic Syndrome: a Pilot Study. Completed NCT01845428 Phase 1 Pravastatin
42 Effect of Albumin Administration on Vasopressor Duration in Resolving Septic Shock Terminated NCT02716597 Phase 1 25% Albumin;Placebo
43 Phase I Study of LEE011plus Cetuximab in Patients With Recurrent or Metastatic Squamous Cell Carcinoma of the Head and Neck Terminated NCT02429089 Phase 1 LEE011
44 A Single-center Open-label Phase I Study of ALT-801 for ex Vivo Maturation and in Vivo Retargeting of Haploidentical Natural Killer Cells Delivered Following Fludarabine, Cytarabine, and G-CSF in Patients With Relapsed/Refractory Acute Myeloid Leukemia Withdrawn NCT01478074 Phase 1 G-CSF;Cytarabine;Fludarabine
45 Acid Base Balance of ICU Patients With Severe Hypoalbuminemia, Before and After an Albumin Infusion, Using Stewart Approach Unknown status NCT02288494
46 The Analysis of Factors Influencing the Apparent Volume of Distribution of Imipenem in Septic Shock Patients Unknown status NCT03308214 Imipenem
47 Pharmacokinetics of Vancomycin in ICU Patients Unknown status NCT02844192
48 Diagnostic and Prognostic Value of Miss-1 Study in Children and Adult With Nephrotic Syndrome MISSNEPHROTIQUE Unknown status NCT03592030
49 Clinical Significance of Assesment of Serum miRNA-30a in Childhood Nephrotic Syndrome Unknown status NCT03235128
50 A Descriptive Study on the Effectiveness and Safety of Cyclosporin A Therapy in Steroid Dependent and Steroid Resistant Childhood Nephrotic Syndrome Unknown status NCT03219684

Search NIH Clinical Center for Analbuminemia

Inferred drug relations via UMLS 71 / NDF-RT 50 :


Albumin Human, USP
ALBUMIN,AGGREGATED
ALBUMIN,EGG
ALBUMIN,HUMAN INJ
ALBUMIN,MICROSPHERE HUMAN SERUM

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:

40
Liver, Heart, Kidney, Bone, Monocytes, Colon, Thyroid

Publications for Analbuminemia

Articles related to Analbuminemia:

(show top 50) (show all 350)
# Title Authors PMID Year
1
A novel insertion (c.1098dupT) in the albumin gene causes analbuminemia in a consanguineous family. 56 6 61
29981851 2019
2
Splicing mutation in human hereditary analbuminemia. 6 56 61
3353369 1988
3
A novel splicing mutation causes an undescribed type of analbuminemia. 61 56
11781148 2002
4
Influence of methodology on the detection and diagnosis of congenital analbuminemia. 61 56
9799768 1998
5
Bennhold's analbuminemia: a follow-up study of the first two cases (1953-1992). 61 56
8621984 1996
6
Analbuminemia: three cases resulting from different point mutations in the albumin gene. 56 61
7937781 1994
7
A nucleotide insertion and frameshift cause analbuminemia in an Italian family. 6 61
8134387 1994
8
Molecular genetics of human serum albumin: restriction enzyme fragment length polymorphisms and analbuminemia. 56 61
6310605 1983
9
Analbuminemia: report of a case and review of the literature. 56 61
7010780 1980
10
Albumin-deficient rat mutant. 61 56
451621 1979
11
Analbuminemia in an American Indian girl. 61 56
1269174 1976
12
Analbuminemia in a neonate. 61 56
1127526 1975
13
Comparative studies on the half-life of I 131-labeled albumins and nonradioactive human serum albumin in a case of analbuminemia. 61 56
13654522 1959
14
Exon skipping during splicing of albumin mRNA precursors in Nagase analbuminemic rats. 56
1690892 1990
15
Thyroxine transport and distribution in Nagase analbuminemic rats. 56
2910905 1989
16
A seven-base-pair deletion in an intron of the albumin gene of analbuminemic rats. 56
6572011 1983
17
Presence of albumin mRNA precursors in nuclei of analbuminemic rat liver lacking cytoplasmic albumin mRNA. 56
6950424 1982
18
Absence of albumin mRNA in the liver of analbuminemic rats. 56
6932016 1980
19
Recurrent Hypoglycemia in a Case of Congenital Analbuminemia. 61
32181025 2020
20
Congenital Analbuminemia in a Korean Male Diagnosed with Single Nucleotide Polymorphism in the ALB Gene: The First Case Reported in Korea. 61
31250585 2019
21
Congenital analbuminemia in a patient affected by hypercholesterolemia: A case report. 61
30842957 2019
22
Diagnosis, Phenotype, and Molecular Genetics of Congenital Analbuminemia. 61
31057599 2019
23
Understanding fetal factors that contribute to preterm birth: Sjögren-Larsson syndrome as a model. 61
28915122 2018
24
Congenital Analbuminemia in Unrelated Algerian and Turkish Families is Caused by the Same Molecular Defect in the Albumin Gene. 61
29214768 2018
25
Fetal liver cell-containing hybrid organoids improve cell viability and albumin production upon transplantation. 61
26725405 2016
26
A nucleotide deletion and frame-shift cause analbuminemia in a Turkish family. 61
27346974 2016
27
Congenital analbuminemia caused by a novel aberrant splicing in the albumin gene. 61
24627724 2014
28
Effect of albumin on transthyretin and amyloidogenic transthyretin Val30Met disposition and tissue deposition in familial amyloidotic polyneuropathy. 61
24211615 2013
29
Treatment of a patient with congenital analbuminemia with atorvastatin and albumin infusion. 61
24303462 2013
30
Transplantation of engineered chimeric liver with autologous hepatocytes and xenobiotic scaffold. 61
22691372 2013
31
A novel mutation in the albumin gene (c.1A>C) resulting in analbuminemia. 61
23176518 2013
32
A two-base-pairs deletion in the albumin gene causes a new case of analbuminemia. 61
23093284 2012
33
Proteinuria decreases tissue lipoprotein receptor levels resulting in altered lipoprotein structure and increasing lipid levels. 61
22785171 2012
34
Detection of a novel splicing mutation causing analbuminemia in a Libyan family. 61
22613267 2012
35
Perinatal and childhood morbidity and mortality in congenital analbuminemia. 61
23730173 2012
36
A novel splicing mutation causes analbuminemia in a Portuguese boy. 61
22227324 2012
37
The higher susceptibility of congenital analbuminemic rats to Ca2+-induced mitochondrial permeability transition is associated with the increased expression of cyclophilin D and nitrosothiol depletion. 61
21963200 2011
38
Coronary artery bypass surgery in a patient with analbuminemia. 61
21423479 2011
39
Molecular diagnosis of analbuminemia: a new case caused by a nonsense mutation in the albumin gene. 61
22174600 2011
40
A novel frameshift deletion in the albumin gene causes analbuminemia in a young Turkish woman. 61
20638375 2010
41
Kawasaki disease in adults: report of 10 cases. 54
20453601 2010
42
Importance of multi-lineage hematologic involvement and hypoalbuminemia at diagnosis in patients with "risk-organ" multi-system Langerhans cell histiocytosis. 54
20418784 2010
43
Depression and health-related quality of life in maintenance hemodialysis patients. 54
20420798 2010
44
Administration of 5% human serum albumin in critically ill small animal patients with hypoalbuminemia: 418 dogs and 170 cats (1994-2008). 54
20487252 2010
45
Clinical measures identify vitamin D deficiency in dialysis. 54
20185603 2010
46
FcRn binding properties of an abnormal truncated analbuminemic albumin variant. 61
20006594 2010
47
Location of the mutation site in the first two reported cases of analbuminemia. 61
20025859 2010
48
[Albumin and drug therapy in the prognosis of hospitalized elderly]. 54
20498986 2010
49
Early nephrology referral is associated with prolonged survival in hemodialysis patients even after exclusion of lead-time bias. 54
20145431 2010
50
A hospital-based multidisciplinary approach improves nutritional status of the elderly living in long-term care facilities in middle Taiwan. 54
20171451 2010

Variations for Analbuminemia

ClinVar genetic disease variations for Analbuminemia:

6 (show all 13) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ALB NM_000477.7(ALB):c.1098dup (p.Val367fs)duplication Pathogenic 636260 4:74280790-74280791 4:73415073-73415074
2 ALB NM_000477.5(ALB):c.872dupA (p.Asn291Lysfs)duplication Pathogenic 18224 rs77449454 4:74279165-74279165 4:73413444-73413445
3 ALB NM_000477.7(ALB):c.714-2A>GSNV Pathogenic 18210 rs77335374 4:74277711-74277711 4:73411994-73411994
4 ALB NM_000477.7(ALB):c.228_229del (p.Val78fs)deletion Pathogenic 156319 rs75152012 4:74272436-74272437 4:73406719-73406720
5 ALB NM_000477.7(ALB):c.412C>T (p.Arg138Ter)SNV Pathogenic 156320 rs77238412 4:74274452-74274452 4:73408735-73408735
6 ALB NM_000477.7(ALB):c.1669G>A (p.Val557Met)SNV Uncertain significance 156313 rs78284052 4:74285240-74285240 4:73419523-73419523
7 ALB NM_000477.7(ALB):c.166C>T (p.Gln56Ter)SNV not provided 156314 rs75470261 4:74272374-74272374 4:73406657-73406657
8 ALB NM_000477.7(ALB):c.597T>A (p.Ala199=)SNV not provided 156322 rs281860282 4:74275186-74275186 4:73409469-73409469
9 ALB NM_000477.7(ALB):c.714G>A (p.Trp238Ter)SNV not provided 156323 rs76454301 4:74277713-74277713 4:73411996-73411996
10 ALB NM_000477.7(ALB):c.802G>T (p.Glu268Ter)SNV not provided 156324 rs78340021 4:74277801-74277801 4:73412084-73412084
11 ALB NM_000477.7(ALB):c.1275C>A (p.Tyr425Ter)SNV not provided 156309 rs281860283 4:74282056-74282056 4:73416339-73416339
12 ALB NM_000477.7(ALB):c.1428+2T>CSNV not provided 156311 rs78784172 4:74283388-74283388 4:73417671-73417671
13 ALB NM_000477.7(ALB):c.1610del (p.Ile537fs)deletion not provided 156312 rs77081291 4:74283986-74283986 4:73418269-73418269

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 TTR F2 ALB

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 TTR TF NPHS1 GPT GC F2
2 extracellular region GO:0005576 9.61 TTR TF GC F3 F2 EPO
3 blood microparticle GO:0072562 9.46 TF GC F2 ALB
4 extracellular space GO:0005615 9.32 TTR TF GPT GC F3 F2

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

# Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.26 TTR TF F2 ALB
2 acute-phase response GO:0006953 8.8 F2 EPO CRP

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 TTR EPO AVP

Sources for Analbuminemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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