ANALBA
MCID: ANL018
MIFTS: 52

Analbuminemia (ANALBA)

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

Aliases & Classifications for Analbuminemia

MalaCards integrated aliases for Analbuminemia:

Name: Analbuminemia 57 20 72 29 6 39
Analba 57 20 72
Congenital Analbuminemia 20 58
Hypoalbuminemia 44 70

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

GARD : 20 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 peritonitis 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 Omeprazole and Esomeprazole have been mentioned in the context of this disorder. Affiliated tissues include heart, kidney and liver, and related phenotypes are hypoalbuminemia and fatigue

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) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 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 : 73 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 635)
# Related Disease Score Top Affiliating Genes
1 peritonitis 30.3 F2 CRP ALB
2 pulmonary edema 30.3 F2 EPO CRP
3 acute kidney failure 30.2 GPT F2 ALB
4 uremia 30.1 EPO CRP ALB
5 acquired immunodeficiency syndrome 30.1 EPO CRP ALB
6 end stage renal disease 30.1 TTR NPHS1 EPO CRP ALB
7 homocysteinemia 30.1 F2 CRP ALB
8 metabolic acidosis 30.0 GPT F2 ALB
9 cholecystitis 30.0 GPT F2 ALB
10 constrictive pericarditis 30.0 CRP ALB
11 protein-energy malnutrition 30.0 TTR TF GPT ALB
12 bacterial pneumonia 30.0 GPT CRP ALB
13 purpura 29.9 F3 F2 CRP
14 cholecystolithiasis 29.9 GPT CRP
15 neutropenia 29.8 GPT EPO CRP ALB
16 hemopericardium 29.8 F3 F2 CRP
17 deficiency anemia 29.8 TTR TF GPT F2 EPO CRP
18 thyroid gland disease 29.8 GPT CRP ALB
19 hyperuricemia 29.7 GPT CRP ALB
20 hyperthyroidism 29.7 GPT CRP ALB
21 acute proliferative glomerulonephritis 29.7 NPHS1 CRP ALB
22 rapidly progressive glomerulonephritis 29.7 NPHS1 CRP ALB
23 portal hypertension 29.7 GPT F3 F2 ALB
24 schistosomiasis 29.7 GPT F2 ALB
25 acute liver failure 29.7 SLC17A5 GPT GC F2
26 interstitial lung disease 29.7 TF CRP ALB
27 cholestasis 29.7 SLC17A5 GPT F2 ALB
28 nutritional deficiency disease 29.5 TTR TF F2 EPO CRP ALB
29 hypersplenism 29.5 GPT F2 EPO ALB
30 hypothyroidism 29.5 TTR GPT CRP ALB
31 scrub typhus 29.4 SLC17A5 GPT F3 CRP
32 hepatitis b 29.4 SLC17A5 GPT F2 ALB
33 hemolytic anemia 29.4 TF F3 F2 EPO
34 active peptic ulcer disease 29.4 F3 F2 CRP ALB
35 anuria 29.4 F3 F2 CRP ALB
36 nephrosclerosis 29.3 NPHS1 F3 F2
37 vascular disease 29.3 F3 F2 EPO CRP ALB
38 peripheral nervous system disease 29.3 TTR GPT EPO CRP APTX ALB
39 kwashiorkor 29.3 TTR SLC17A5 GPT F2 CRP ALB
40 liver disease 29.2 TF SLC17A5 GPT F3 F2 ALB
41 acute cystitis 29.2 OXA1L GPT F2 CRP ALB
42 thrombocytosis 29.1 F3 F2 EPO CRP ALB
43 hepatorenal syndrome 29.1 GPT F2 AVP ALB
44 thrombocytopenia 29.1 GPT F3 F2 EPO CRP ALB
45 nephrotic syndrome 29.1 TF NPHS1 GC F3 F2 CRP
46 tricuspid valve insufficiency 29.1 GPT F3 F2 CRP ALB
47 pericardial effusion 29.0 TTR GPT F3 F2 CRP ALB
48 exanthem 29.0 GPT F3 F2 CRP ALB
49 kidney disease 29.0 TTR TF NPHS1 F3 EPO CRP
50 lipoprotein quantitative trait locus 29.0 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 small for gestational age 58 31 frequent (33%) Frequent (79-30%) HP:0001518
8 pedal edema 58 31 frequent (33%) Frequent (79-30%) HP:0010741
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 hypotension 31 HP:0002615
20 osteoporosis 31 HP:0000939
21 increased antibody level in blood 58 Frequent (79-30%)
22 edema 58 Very frequent (99-80%)

Clinical features from OMIM®:

616000 (Updated 05-Apr-2021)

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 57)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Omeprazole Approved, Investigational, Vet_approved Phase 4 73590-58-6 4594
2
Esomeprazole Approved, Investigational Phase 4 161973-10-0, 161796-78-7, 119141-88-7 4594 9568614
3
Norepinephrine Approved Phase 4 51-41-2 439260
4 Pharmaceutical Solutions Phase 4
5 Hemostatics Phase 4
6 Gastrointestinal Agents Phase 4
7 Anti-Ulcer Agents Phase 4
8 Antacids Phase 4
9 Proton Pump Inhibitors Phase 4
10 insulin Phase 4
11 Mitogens Phase 4
12 Insulin, Globin Zinc Phase 4
13 Ferric Compounds Phase 4
14 Hematinics Phase 4
15
Ethanol Approved Phase 3 64-17-5 702
16
Pentoxifylline Approved, Investigational Phase 3 6493-05-6 4740
17
Thalidomide Approved, Investigational, Withdrawn Phase 3 50-35-1 5426
18
BCG vaccine Approved, Investigational Phase 3
19
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 3 303-98-0 5281915
20
Lecithin Experimental Phase 3 8002-43-5
21 Trace Elements Phase 3
22 Nutrients Phase 3
23 Complement System Proteins Phase 3
24 Vitamins Phase 3
25 Micronutrients Phase 3
26 Ubiquinone Phase 3
27 Radiation-Protective Agents Phase 3
28 Anti-Inflammatory Agents Phase 3
29 Antioxidants Phase 3
30 Platelet Aggregation Inhibitors Phase 3
31 Phosphodiesterase Inhibitors Phase 3
32 Vasodilator Agents Phase 3
33 Omega 3 Fatty Acid Phase 3
34 Eicosapentaenoic acid ethyl ester Phase 3
35 Antibiotics, Antitubercular Phase 3
36 Analgesics Phase 3
37 Bronchodilator Agents Phase 3
38 Immunosuppressive Agents Phase 3
39 Angiogenesis Inhibitors Phase 3
40 Anti-Infective Agents Phase 3
41 Immunologic Factors Phase 3
42 Anti-Bacterial Agents Phase 3
43
Iodine Approved, Investigational 7553-56-2 807
44
Valproic acid Approved, Investigational 99-66-1 3121
45
carbamide peroxide Approved 124-43-6
46
Voriconazole Approved 137234-62-9 71616
47
Caspofungin Approved 179463-17-3, 162808-62-0 468682 2826718
48
Anidulafungin Approved, Investigational 166663-25-8 166548
49
Glycerol Approved, Investigational 56-81-5 753
50
Ceftriaxone Approved 73384-59-5 5479530 5361919

Interventional clinical trials:

(show all 23)
# 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 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
3 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
4 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%
5 Effect of Velphoro on Serum Phosphate and Albumin in Peritoneal Dialysis Patients Recruiting NCT04046263 Phase 4 Sucroferric Oxyhydroxide Chewable Tablet
6 Does Perioperative Substitution of Albumin Deficiency Reduce Postoperative Complications? Active, not recruiting NCT03167645 Phase 4 Human albumin
7 Evolution of Albumin on AOA1 Patients Supplemented With Coenzyme Q10 Completed NCT02333305 Phase 3
8 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
9 Effect of W-3 Polyunsaturated Fatty Acids on Serum Albumin Concentration in Patients With Acute Heart Failure, Hypoalbuminemia, and High Inflammatory Activity Completed NCT02708771 Phase 3 Polyunsaturated fatty acids omega-3;Placebo
10 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
11 Phase 3 Study: The Effect of Thalidomide in Suppression of the Systemic Inflammatory Response Syndrome in Hemodialysis Patients Terminated NCT00529633 Phase 3 Thalidomide
12 Acid Base Balance of ICU Patients With Severe Hypoalbuminemia, Before and After an Albumin Infusion, Using Stewart Approach Unknown status NCT02288494
13 The Relationship Between Preoperative and Postoperative Hypoalbuminemia and Development of Acute Kidney Failure (AKI) According to KDIGO Criteria in Advanced Age Hip Kidney Surgery Unknown status NCT03675906
14 Pilot Research Study to Asses Total Body Albumin Levels Completed NCT01542749
15 Valproic Acid-associated Hypoalbuminemia in Medically Fragile Pediatric and Young Adult Patients in a Long Term Care Facility Part 1: Potential Mechanism for Decreased Albumin Synthesis Completed NCT00723762
16 Hyponatremia and Hypoalbuminemia is Morbimortality Predictors in Coronary Artery Bypass Completed NCT02765061
17 Impact of Hypoalbuminemia on Voriconazole Pharmacokinetics in Critically Ill Adult Patients. Completed NCT01812473
18 The Effect of Natural Protein vs. Protein Supplements on Peritoneal Dialysis Patients An Open-label Prospective Clinical Trial Completed NCT03569410
19 Impact of Providing High Protein Bar to Dialysis Patients With Low Serum Albumin Completed NCT00597025
20 Impact of Capillary Leak and Hypoalbuminemia on PK/PD of Anidulafungin and Caspofungin in Critically Ill Patients Recruiting NCT04045366
21 Clinical Implication of Nutritional Counseling and Whey Protein Supplements in Patients on Peritoneal Dialysis With Hypoalbuminemia Recruiting NCT04546958
22 Mitochondrial Function in Patients With Severe Liver Disease Recruiting NCT02457702
23 Impact op Capillary Leak and Hypoalbuminemia on PK/PD of Ceftriaxone in Critically Ill Patients With Overwhelming Pneumonia Active, not recruiting NCT03438981

Search NIH Clinical Center for Analbuminemia

Inferred drug relations via UMLS 70 / NDF-RT 51 :


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
Heart, Kidney, Liver, Bone Marrow, Pancreas, Testes, Endothelial

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. 61 6 57
29981851 2019
2
Analbuminemia: three cases resulting from different point mutations in the albumin gene. 6 61 57
7937781 1994
3
Splicing mutation in human hereditary analbuminemia. 6 57 61
3353369 1988
4
Analbuminemia in a Swiss family is caused by a C --> T transition at nucleotide 4446 of the albumin gene. 61 6
15996651 2005
5
Congenital analbuminaemia: biochemical and clinical implications. A case report and literature review. 6 61
15300429 2004
6
A novel splicing mutation causes an undescribed type of analbuminemia. 57 61
11781148 2002
7
Influence of methodology on the detection and diagnosis of congenital analbuminemia. 61 57
9799768 1998
8
Bennhold's analbuminemia: a follow-up study of the first two cases (1953-1992). 61 57
8621984 1996
9
A nucleotide insertion and frameshift cause analbuminemia in an Italian family. 6 61
8134387 1994
10
Molecular genetics of human serum albumin: restriction enzyme fragment length polymorphisms and analbuminemia. 57 61
6310605 1983
11
Analbuminemia: report of a case and review of the literature. 57 61
7010780 1980
12
Albumin-deficient rat mutant. 61 57
451621 1979
13
Analbuminemia in an American Indian girl. 57 61
1269174 1976
14
Analbuminemia in a neonate. 61 57
1127526 1975
15
Comparative studies on the half-life of I 131-labeled albumins and nonradioactive human serum albumin in a case of analbuminemia. 57 61
13654522 1959
16
Exon skipping during splicing of albumin mRNA precursors in Nagase analbuminemic rats. 57
1690892 1990
17
Thyroxine transport and distribution in Nagase analbuminemic rats. 57
2910905 1989
18
A seven-base-pair deletion in an intron of the albumin gene of analbuminemic rats. 57
6572011 1983
19
Presence of albumin mRNA precursors in nuclei of analbuminemic rat liver lacking cytoplasmic albumin mRNA. 57
6950424 1982
20
Absence of albumin mRNA in the liver of analbuminemic rats. 57
6932016 1980
21
Recurrent Hypoglycemia in a Case of Congenital Analbuminemia. 61
32181025 2020
22
Congenital Analbuminemia in a Korean Male Diagnosed with Single Nucleotide Polymorphism in the ALB Gene: The First Case Reported in Korea. 61
31250585 2019
23
Congenital analbuminemia in a patient affected by hypercholesterolemia: A case report. 61
30842957 2019
24
Diagnosis, Phenotype, and Molecular Genetics of Congenital Analbuminemia. 61
31057599 2019
25
Understanding fetal factors that contribute to preterm birth: Sjögren-Larsson syndrome as a model. 61
28915122 2018
26
Congenital Analbuminemia in Unrelated Algerian and Turkish Families is Caused by the Same Molecular Defect in the Albumin Gene. 61
29214768 2018
27
Fetal liver cell-containing hybrid organoids improve cell viability and albumin production upon transplantation. 61
26725405 2016
28
A nucleotide deletion and frame-shift cause analbuminemia in a Turkish family. 61
27346974 2016
29
Congenital analbuminemia caused by a novel aberrant splicing in the albumin gene. 61
24627724 2014
30
Effect of albumin on transthyretin and amyloidogenic transthyretin Val30Met disposition and tissue deposition in familial amyloidotic polyneuropathy. 61
24211615 2013
31
Treatment of a patient with congenital analbuminemia with atorvastatin and albumin infusion. 61
24303462 2013
32
Transplantation of engineered chimeric liver with autologous hepatocytes and xenobiotic scaffold. 61
22691372 2013
33
A novel mutation in the albumin gene (c.1A>C) resulting in analbuminemia. 61
23176518 2013
34
A two-base-pairs deletion in the albumin gene causes a new case of analbuminemia. 61
23093284 2012
35
Proteinuria decreases tissue lipoprotein receptor levels resulting in altered lipoprotein structure and increasing lipid levels. 61
22785171 2012
36
Detection of a novel splicing mutation causing analbuminemia in a Libyan family. 61
22613267 2012
37
Perinatal and childhood morbidity and mortality in congenital analbuminemia. 61
23730173 2012
38
A novel splicing mutation causes analbuminemia in a Portuguese boy. 61
22227324 2012
39
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
40
Coronary artery bypass surgery in a patient with analbuminemia. 61
21423479 2011
41
Molecular diagnosis of analbuminemia: a new case caused by a nonsense mutation in the albumin gene. 61
22174600 2011
42
A novel frameshift deletion in the albumin gene causes analbuminemia in a young Turkish woman. 61
20638375 2010
43
Importance of multi-lineage hematologic involvement and hypoalbuminemia at diagnosis in patients with "risk-organ" multi-system Langerhans cell histiocytosis. 54
20418784 2010
44
Kawasaki disease in adults: report of 10 cases. 54
20453601 2010
45
Depression and health-related quality of life in maintenance hemodialysis patients. 54
20420798 2010
46
Administration of 5% human serum albumin in critically ill small animal patients with hypoalbuminemia: 418 dogs and 170 cats (1994-2008). 54
20487252 2010
47
Clinical measures identify vitamin D deficiency in dialysis. 54
20185603 2010
48
Location of the mutation site in the first two reported cases of analbuminemia. 61
20025859 2010
49
FcRn binding properties of an abnormal truncated analbuminemic albumin variant. 61
20006594 2010
50
[Albumin and drug therapy in the prognosis of hospitalized elderly]. 54
20498986 2010

Variations for Analbuminemia

ClinVar genetic disease variations for Analbuminemia:

6 (show all 13)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ALB NM_000477.7(ALB):c.714-2A>G SNV Pathogenic 18210 rs77335374 GRCh37: 4:74277711-74277711
GRCh38: 4:73411994-73411994
2 ALB NM_000477.7(ALB):c.412C>T (p.Arg138Ter) SNV Pathogenic 156320 rs77238412 GRCh37: 4:74274452-74274452
GRCh38: 4:73408735-73408735
3 ALB NM_000477.7(ALB):c.1098dup (p.Val367fs) Duplication Pathogenic 636260 rs1577939845 GRCh37: 4:74280790-74280791
GRCh38: 4:73415073-73415074
4 ALB NM_000477.5(ALB):c.872dupA (p.Asn291Lysfs) Duplication Pathogenic 18224 rs77449454 GRCh37: 4:74279165-74279165
GRCh38: 4:73413444-73413445
5 ALB NM_000477.7(ALB):c.1669G>A (p.Val557Met) SNV Uncertain significance 156313 rs78284052 GRCh37: 4:74285240-74285240
GRCh38: 4:73419523-73419523
6 ALB NM_000477.7(ALB):c.228_229del (p.Val78fs) Deletion not provided 156319 rs75152012 GRCh37: 4:74272436-74272437
GRCh38: 4:73406719-73406720
7 ALB NM_000477.7(ALB):c.597T>A (p.Ala199=) SNV not provided 156322 rs281860282 GRCh37: 4:74275186-74275186
GRCh38: 4:73409469-73409469
8 ALB NM_000477.7(ALB):c.714G>A (p.Trp238Ter) SNV not provided 156323 rs76454301 GRCh37: 4:74277713-74277713
GRCh38: 4:73411996-73411996
9 ALB NM_000477.7(ALB):c.802G>T (p.Glu268Ter) SNV not provided 156324 rs78340021 GRCh37: 4:74277801-74277801
GRCh38: 4:73412084-73412084
10 ALB NM_000477.7(ALB):c.1275C>A (p.Tyr425Ter) SNV not provided 156309 rs281860283 GRCh37: 4:74282056-74282056
GRCh38: 4:73416339-73416339
11 ALB NM_000477.7(ALB):c.1428+2T>C SNV not provided 156311 rs78784172 GRCh37: 4:74283388-74283388
GRCh38: 4:73417671-73417671
12 ALB NM_000477.7(ALB):c.1610del (p.Ile537fs) Deletion not provided 156312 rs77081291 GRCh37: 4:74283986-74283986
GRCh38: 4:73418269-73418269
13 ALB NM_000477.7(ALB):c.166C>T (p.Gln56Ter) SNV not provided 156314 rs75470261 GRCh37: 4:74272374-74272374
GRCh38: 4:73406657-73406657

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 transport GO:0006810 9.26 GC ALB
2 cellular protein metabolic process GO:0044267 9.26 TTR TF F2 ALB
3 vasoconstriction GO:0042310 9.16 CRP AVP
4 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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