ANALBA
MCID: ANL018
MIFTS: 51

Analbuminemia (ANALBA)

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

Aliases & Classifications for Analbuminemia

MalaCards integrated aliases for Analbuminemia:

Name: Analbuminemia 57 74 29 6 40
Hypoalbuminemia 44 72
Analba 57 74
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
MeSH 44 D034141
ICD10 via Orphanet 34 R77.0
Orphanet 59 ORPHA86816
MedGen 42 C0878666
UMLS 72 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 deficiency anemia and microvascular complications of diabetes 3. An important gene associated with Analbuminemia is ALB (Albumin), and among its related pathways/superpathways is FOXA2 and FOXA3 transcription factor networks. The drugs Miconazole and Caspofungin have been mentioned in the context of this disorder. Affiliated tissues include liver, kidney and heart, and related phenotypes are hypotension and fatigue

UniProtKB/Swiss-Prot : 74 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 : 75 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 441)
# Related Disease Score Top Affiliating Genes
1 deficiency anemia 30.7 TF EPO CRP ALB
2 microvascular complications of diabetes 3 30.5 NPHS1 ALB
3 portal hypertension 30.5 GPT F2 ALB
4 homocysteinemia 30.5 F2 CRP ALB
5 peritonitis 30.5 F2 CRP ALB
6 cholecystitis 30.3 GPT F2 ALB
7 purpura 30.2 F3 F2 CRP
8 uremia 30.2 TF EPO CRP ALB
9 protein-energy malnutrition 30.2 TTR TF GPT ALB
10 respiratory failure 30.2 TTR F3 CRP ALB
11 end stage renal failure 30.2 TF NPHS1 EPO CRP ALB
12 hypersplenism 30.2 F2 EPO ALB
13 membranous nephropathy 30.0 TF NPHS1 ALB
14 nutritional deficiency disease 29.8 TTR TF EPO CRP ALB
15 bilirubin metabolic disorder 29.8 SLC17A5 GPT F2 ALB
16 pulmonary embolism 29.8 F3 F2 CRP ALB
17 kidney disease 29.7 TTR TF NPHS1 EPO CRP ALB
18 vascular disease 29.6 F3 F2 CRP ALB
19 hepatitis b 29.6 SLC17A5 GPT F2 ALB
20 thrombocytosis 29.4 F3 F2 EPO CRP
21 scrub typhus 29.3 SLC17A5 GPT F3 CRP
22 kwashiorkor 29.0 TTR TF SLC17A5 GPT F2 ALB
23 liver disease 28.9 TF SLC17A5 GPT F3 F2 ALB
24 acute liver failure 28.9 SLC17A5 GPT GC F2 ALB
25 liver cirrhosis 27.6 TTR TF SLC17A5 GPT F3 F2
26 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 12.8
27 congenital analbuminemia 12.7
28 diarrhea 10, protein-losing enteropathy type 11.5
29 systemic capillary leak syndrome 11.4
30 nephrotic syndrome, type 2 11.3
31 nephrotic syndrome, type 9 11.3
32 nephrotic syndrome, type 1 11.2
33 focal segmental glomerulosclerosis 6 11.2
34 nephrotic syndrome, type 6 11.2
35 nephrotic syndrome, type 4 11.1
36 glomerulopathy with fibronectin deposits 2 11.1
37 focal segmental glomerulosclerosis 1 11.1
38 nephrotic syndrome, type 3 11.1
39 nephrotic syndrome, type 5, with or without ocular abnormalities 11.1
40 nephrotic syndrome, type 7 11.1
41 nephrotic syndrome, type 8 11.1
42 nephrotic syndrome, type 10 11.1
43 nephrotic syndrome, type 11 11.1
44 nephrotic syndrome, type 12 11.1
45 nephrotic syndrome, type 13 11.1
46 nephrotic syndrome, type 14 11.1
47 nephrotic syndrome, type 15 11.1
48 nephrotic syndrome, type 16 11.1
49 nephrotic syndrome, type 17 11.1
50 nephrotic syndrome, type 18 11.1

Graphical network of the top 20 diseases related to Analbuminemia:



Diseases related to Analbuminemia

Symptoms & Phenotypes for Analbuminemia

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

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:

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

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

(show top 50) (show all 208)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
2
Caspofungin Approved Phase 4 179463-17-3, 162808-62-0 468682 2826718
3
Omeprazole Approved, Investigational, Vet_approved Phase 4 73590-58-6 4594
4
Esomeprazole Approved, Investigational Phase 4 119141-88-7, 161796-78-7, 161973-10-0 9568614 4594
5
Mecasermin Approved, Investigational Phase 4 68562-41-4
6
Norepinephrine Approved Phase 4 51-41-2 439260
7
Mannitol Approved, Investigational Phase 4 69-65-8 453 6251
8
Isoleucine Approved, Investigational, Nutraceutical Phase 4 443-79-8, 73-32-5 6306
9 Omega 3 Fatty Acid Phase 4
10 Antifungal Agents Phase 4
11 Antacids Phase 4
12 Hemostatics Phase 4
13 Proton Pump Inhibitors Phase 4
14 Anti-Ulcer Agents Phase 4
15 insulin Phase 4
16 Insulin, Globin Zinc Phase 4
17 Mitogens Phase 4
18 Pharmaceutical Solutions Phase 4
19 Neurotransmitter Agents Phase 4
20 Ophthalmic Solutions Phase 4
21 Plasma-lyte 148 Phase 4
22 Vasoconstrictor Agents Phase 4
23 Liver Extracts Phase 4
24 Sympathomimetics Phase 4
25 Adrenergic Agonists Phase 4
26 Adrenergic alpha-Agonists Phase 4
27 Adrenergic Agents Phase 4
28 Autonomic Agents Phase 4
29 valine Phase 4
30 leucine Phase 4
31 Ferric Compounds Phase 4
32
Ethanol Approved Phase 3 64-17-5 702
33
Pentoxifylline Approved, Investigational Phase 3 6493-05-6 4740
34
tannic acid Approved Phase 3 1401-55-4
35
Benzocaine Approved, Investigational Phase 3 94-09-7, 1994-09-7 2337
36
Lactulose Approved Phase 2, Phase 3 4618-18-2 11333
37
Rifaximin Approved, Investigational Phase 2, Phase 3 80621-81-4 46783403 6436173
38
Prednisone Approved, Vet_approved Phase 3 53-03-2 5865
39
Prednisolone phosphate Approved, Vet_approved Phase 3 302-25-0
40
Methylprednisolone hemisuccinate Approved Phase 3 2921-57-5
41
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 6741
42
Prednisolone Approved, Vet_approved Phase 3 50-24-8 5755
43
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 3 303-98-0 5281915
44
Prednisolone hemisuccinate Experimental Phase 3 2920-86-7
45 Eicosapentaenoic acid ethyl ester Phase 3
46 Anti-Infective Agents Phase 3
47 Platelet Aggregation Inhibitors Phase 3
48 Ubiquinone Phase 3
49 Lecithin Phase 3
50 Antiviral Agents Phase 3

Interventional clinical trials:

(show top 50) (show all 85)
# 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 the Safety and Effect in TB Patients With NAC Unknown status NCT02889757 Phase 4 Acteylcysteine
3 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
4 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
5 Pharmacokinetics and Optimal Dosage of Caspofungin in Critically Ill Patients With Suspected Invasive Candidiasis Completed NCT01994096 Phase 4 Caspofungin
6 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
7 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
8 Influence of Albumin on the Development of Acute Renal Dysfunction Associated With Cardiac Surgery Under Extracorporeal Circulation Recruiting NCT03373318 Phase 4 Human albumin;Plasmalyte
9 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%
10 Does Perioperative Substitution of Albumin Deficiency Reduce Postoperative Complications? Recruiting NCT03167645 Phase 4 Human albumin
11 Prevention of Hypoglycemia Among Diabetes Patients Admitted to Internal Medicine Departments, by Means of a Designated Nutritional Care Program Recruiting NCT03802942 Phase 4
12 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
13 Effect of Velphoro on Serum Phosphate and Albumin in Peritoneal Dialysis Patients Not yet recruiting NCT04046263 Phase 4 Sucroferric Oxyhydroxide Chewable Tablet
14 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
15 Evolution of Albumin on AOA1 Patients Supplemented With Coenzyme Q10 Completed NCT02333305 Phase 3
16 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
17 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
18 Hepatocellular Carcinoma Postoperative Adjuvant Therapy Disease Committee of Taiwan Cooperative Oncology Group Completed NCT00149565 Phase 3 IFN-α2b
19 Growth Hormone Therapy and Its Effect on Nitrogen Metabolism and Malnutrition in Liver Cirrhosis Recruiting NCT03420144 Phase 2, Phase 3 Standard Medical Therapy;Growth Hormone
20 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
21 Phase 3 Study: The Effect of Thalidomide in Suppression of the Systemic Inflammatory Response Syndrome in Hemodialysis Patients Terminated NCT00529633 Phase 3 Thalidomide
22 Resistance to ErythroPoietin Effectiveness Algorithm Trial Terminated NCT00319150 Phase 3 erythropoietin
23 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
24 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
25 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
26 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
27 Efficacy and Safety of Dengue Vaccine in Healthy Children Aged 4 to 11 Years in Thailand Completed NCT00842530 Phase 2
28 Cholecalciferol as a Modifier of Serum Hepcidin in Children With Chronic Kidney Disease Completed NCT01532349 Phase 2 Cholecalciferol
29 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
30 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
31 A Phase 2 Trial of N-Acetylcysteine in Biliary Atresia After Kasai Portoenterostomy Recruiting NCT03499249 Phase 2 N-Acetyl cysteine
32 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
33 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
34 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
35 Prevention of Clostridium Difficile-associated Diarrhea by Daily Intake of Kefir Terminated NCT02707198 Phase 2 kefir
36 Pharmacokinetics of Apixaban in Nephrotic Syndrome Completed NCT02599532 Phase 1 apixaban
37 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
38 Effect of Albumin Administration on Vasopressor Duration in Resolving Septic Shock Terminated NCT02716597 Phase 1 25% Albumin;Placebo
39 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
40 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
41 Acid Base Balance of ICU Patients With Severe Hypoalbuminemia, Before and After an Albumin Infusion, Using Stewart Approach Unknown status NCT02288494
42 Impact of Providing High Protein Bar to Dialysis Patients With Low Serum Albumin Unknown status NCT00597025
43 Pharmacokinetics of Vancomycin in ICU Patients Unknown status NCT02844192
44 A Descriptive Study on the Effectiveness and Safety of Cyclosporin A Therapy in Steroid Dependent and Steroid Resistant Childhood Nephrotic Syndrome Unknown status NCT03219684
45 Strong Ion Gap as Prognostic Indicator for Adult Patients Admitted With Shock to the Intensive Care Units Unknown status NCT02652364
46 Once Daily Dosing to Improve Medication Adherence and Patient Satisfaction in Kidney Transplant Recipients: A Pilot Study Unknown status NCT02426502 Conversion to Advagraf;conversion of non-immunosuppressant drugs to once daily;Conversion to once daily MPA
47 Steroid Treatment of Childhood Idiopathic Nephrotic Syndrome: Epidemiology, Therapeutic Adequacy, Medium and Long Term Outcomes. A Prospective Observational Cohort Study. Unknown status NCT01386957
48 Comparison of Ringer Lactate and Isotonic Acetate Solution as Maintenance Fluids in Children Undergoing Elective Laparoscopic Surgery Unknown status NCT02936167
49 Stent vs. Angioplasty for Treatment of Thrombosed AV Grfats: Long-Term Outcomes Unknown status NCT00496639
50 Impact of Hypoalbuminemia on Voriconazole Pharmacokinetics in Critically Ill Adult Patients. Completed NCT01812473

Search NIH Clinical Center for Analbuminemia

Inferred drug relations via UMLS 72 / NDF-RT 51 :


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

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
Liver, Kidney, Heart, Bone, Monocytes, Colon, Myeloid

Publications for Analbuminemia

Articles related to Analbuminemia:

(show top 50) (show all 349)
# Title Authors PMID Year
1
A novel insertion (c.1098dupT) in the albumin gene causes analbuminemia in a consanguineous family. 38 8 71
29981851 2019
2
Splicing mutation in human hereditary analbuminemia. 38 8 71
3353369 1988
3
A novel splicing mutation causes an undescribed type of analbuminemia. 38 8
11781148 2002
4
Influence of methodology on the detection and diagnosis of congenital analbuminemia. 38 8
9799768 1998
5
Bennhold's analbuminemia: a follow-up study of the first two cases (1953-1992). 38 8
8621984 1996
6
Analbuminemia: three cases resulting from different point mutations in the albumin gene. 38 8
7937781 1994
7
A nucleotide insertion and frameshift cause analbuminemia in an Italian family. 38 71
8134387 1994
8
Molecular genetics of human serum albumin: restriction enzyme fragment length polymorphisms and analbuminemia. 38 8
6310605 1983
9
Analbuminemia: report of a case and review of the literature. 38 8
7010780 1980
10
Albumin-deficient rat mutant. 38 8
451621 1979
11
Analbuminemia in an American Indian girl. 38 8
1269174 1976
12
Analbuminemia in a neonate. 38 8
1127526 1975
13
Comparative studies on the half-life of I 131-labeled albumins and nonradioactive human serum albumin in a case of analbuminemia. 38 8
13654522 1959
14
Exon skipping during splicing of albumin mRNA precursors in Nagase analbuminemic rats. 8
1690892 1990
15
Thyroxine transport and distribution in Nagase analbuminemic rats. 8
2910905 1989
16
A seven-base-pair deletion in an intron of the albumin gene of analbuminemic rats. 8
6572011 1983
17
Presence of albumin mRNA precursors in nuclei of analbuminemic rat liver lacking cytoplasmic albumin mRNA. 8
6950424 1982
18
Absence of albumin mRNA in the liver of analbuminemic rats. 8
6932016 1980
19
Congenital Analbuminemia in a Korean Male Diagnosed with Single Nucleotide Polymorphism in the ALB Gene: The First Case Reported in Korea. 38
31250585 2019
20
Congenital analbuminemia in a patient affected by hypercholesterolemia: A case report. 38
30842957 2019
21
Diagnosis, Phenotype, and Molecular Genetics of Congenital Analbuminemia. 38
31057599 2019
22
Understanding fetal factors that contribute to preterm birth: Sjögren-Larsson syndrome as a model. 38
28915122 2018
23
Congenital Analbuminemia in Unrelated Algerian and Turkish Families is Caused by the Same Molecular Defect in the Albumin Gene. 38
29214768 2018
24
Fetal liver cell-containing hybrid organoids improve cell viability and albumin production upon transplantation. 38
26725405 2016
25
A nucleotide deletion and frame-shift cause analbuminemia in a Turkish family. 38
27346974 2016
26
Congenital analbuminemia caused by a novel aberrant splicing in the albumin gene. 38
24627724 2014
27
Effect of albumin on transthyretin and amyloidogenic transthyretin Val30Met disposition and tissue deposition in familial amyloidotic polyneuropathy. 38
24211615 2013
28
Treatment of a patient with congenital analbuminemia with atorvastatin and albumin infusion. 38
24303462 2013
29
Transplantation of engineered chimeric liver with autologous hepatocytes and xenobiotic scaffold. 38
22691372 2013
30
A novel mutation in the albumin gene (c.1A>C) resulting in analbuminemia. 38
23176518 2013
31
A two-base-pairs deletion in the albumin gene causes a new case of analbuminemia. 38
23093284 2012
32
Proteinuria decreases tissue lipoprotein receptor levels resulting in altered lipoprotein structure and increasing lipid levels. 38
22785171 2012
33
Detection of a novel splicing mutation causing analbuminemia in a Libyan family. 38
22613267 2012
34
Perinatal and childhood morbidity and mortality in congenital analbuminemia. 38
23730173 2012
35
A novel splicing mutation causes analbuminemia in a Portuguese boy. 38
22227324 2012
36
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. 38
21963200 2011
37
Coronary artery bypass surgery in a patient with analbuminemia. 38
21423479 2011
38
Molecular diagnosis of analbuminemia: a new case caused by a nonsense mutation in the albumin gene. 38
22174600 2011
39
A novel frameshift deletion in the albumin gene causes analbuminemia in a young Turkish woman. 38
20638375 2010
40
Kawasaki disease in adults: report of 10 cases. 9
20453601 2010
41
Importance of multi-lineage hematologic involvement and hypoalbuminemia at diagnosis in patients with "risk-organ" multi-system Langerhans cell histiocytosis. 9
20418784 2010
42
Depression and health-related quality of life in maintenance hemodialysis patients. 9
20420798 2010
43
Administration of 5% human serum albumin in critically ill small animal patients with hypoalbuminemia: 418 dogs and 170 cats (1994-2008). 9
20487252 2010
44
Clinical measures identify vitamin D deficiency in dialysis. 9
20185603 2010
45
FcRn binding properties of an abnormal truncated analbuminemic albumin variant. 38
20006594 2010
46
Location of the mutation site in the first two reported cases of analbuminemia. 38
20025859 2010
47
[Albumin and drug therapy in the prognosis of hospitalized elderly]. 9
20498986 2010
48
A hospital-based multidisciplinary approach improves nutritional status of the elderly living in long-term care facilities in middle Taiwan. 9
20171451 2010
49
Early nephrology referral is associated with prolonged survival in hemodialysis patients even after exclusion of lead-time bias. 9
20145431 2010
50
Reassessment of albumin as a nutritional marker in kidney disease. 38
20075063 2010

Variations for Analbuminemia

ClinVar genetic disease variations for Analbuminemia:

6 (show all 12)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ALB NM_000477.7(ALB): c.714-2A> G single nucleotide variant Pathogenic rs77335374 4:74277711-74277711 4:73411994-73411994
2 ALB NM_000477.5(ALB): c.872dupA (p.Asn291Lysfs) duplication Pathogenic rs77449454 4:74279165-74279165 4:73413448-73413448
3 ALB NM_000477.7(ALB): c.412C> T (p.Arg138Ter) single nucleotide variant Pathogenic rs77238412 4:74274452-74274452 4:73408735-73408735
4 ALB NM_000477.7(ALB): c.1098dup (p.Val367fs) duplication Pathogenic 4:74280791-74280791 4:73415074-73415074
5 ALB NM_000477.7(ALB): c.597T> A (p.Ala199=) single nucleotide variant not provided rs281860282 4:74275186-74275186 4:73409469-73409469
6 ALB NM_000477.7(ALB): c.714G> A (p.Trp238Ter) single nucleotide variant not provided rs76454301 4:74277713-74277713 4:73411996-73411996
7 ALB NM_000477.7(ALB): c.802G> T (p.Glu268Ter) single nucleotide variant not provided rs78340021 4:74277801-74277801 4:73412084-73412084
8 ALB NM_000477.7(ALB): c.1275C> A (p.Tyr425Ter) single nucleotide variant not provided rs281860283 4:74282056-74282056 4:73416339-73416339
9 ALB NM_000477.7(ALB): c.1428+2T> C single nucleotide variant not provided rs78784172 4:74283388-74283388 4:73417671-73417671
10 ALB NM_000477.7(ALB): c.1610del (p.Ile537fs) deletion not provided rs77081291 4:74283986-74283986 4:73418269-73418269
11 ALB NM_000477.7(ALB): c.166C> T (p.Gln56Ter) single nucleotide variant not provided rs75470261 4:74272374-74272374 4:73406657-73406657
12 ALB NM_000477.7(ALB): c.228_229del (p.Val78fs) deletion not provided rs75152012 4:74272436-74272437 4:73406719-73406720

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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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