MCID: HYP781
MIFTS: 52

Hypoascorbemia

Categories: Mental diseases, Metabolic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Hypoascorbemia

MalaCards integrated aliases for Hypoascorbemia:

Name: Hypoascorbemia 57 20
Scurvy 57 12 73 20 13 44 15 17 70
Ascorbic Acid Deficiency 70 32
Vitamin C Deficiency 20 36
Vitamin C, Inability to Synthesize 57
Deficiency of Vitamin C 20
Scorbutus 20
Vitamin C 42

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
homo sapiens do not have a functional l-gulonolactone oxidase gene


HPO:

31
hypoascorbemia:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:13724
OMIM® 57 240400
KEGG 36 H01580
MeSH 44 D012614
NCIt 50 C35010
SNOMED-CT 67 267493006
ICD10 32 E54
MedGen 41 C0036474
SNOMED-CT via HPO 68 258211005
UMLS 70 C0003969 C0036474

Summaries for Hypoascorbemia

KEGG : 36 Scurvy occurs because of reduced intake or absorption of vitamin C, which is characterized by bleeding gums, impaired wound healing, petechiae, perifollicular hemorrhage, anemia, arthralgia and joint effusions, fatigue, depression, and sudden death. It appears to result primarily from the decreased synthesis of collagen, a major protein in the body dependent on vitamin C for its biosynthesis. However, this role of vitamin C does not explain all of the manifestations associated with scurvy. At-risk groups include the poor (because of reduced access to groceries), food faddists, and individuals with purported allergies to multiple fruit and vegetable products. Other at-risk groups include persons with gastrointestinal disease (e.g. colitis), anatomical abnormalities, poor dentition, cancer patients on chemotherapy, patients on hemodialysis, and psychiatric disorders (e.g. depression, schizophrenia, or anorexia). Alcoholic persons represent one of the largest groups at risk for scurvy because they may have poorly balanced diets and because alcohol decreases the absorption of vitamin C. The diagnosis of scurvy is generally based on clinical features and dietary history, and there is rapid resolution of signs and symptoms after vitamin C supplementation.

MalaCards based summary : Hypoascorbemia, also known as scurvy, is related to iron-refractory iron deficiency anemia and iron overload in africa, and has symptoms including fatigue An important gene associated with Hypoascorbemia is GULOP (Gulonolactone (L-) Oxidase, Pseudogene), and among its related pathways/superpathways are Metabolism and Metabolism of water-soluble vitamins and cofactors. The drugs Atorvastatin and Morphine have been mentioned in the context of this disorder. Affiliated tissues include endothelial, skin and bone, and related phenotypes are abnormality of metabolism/homeostasis and homeostasis/metabolism

Disease Ontology : 12 A nutritional deficiency disease that is characterized by vitamin C (ascorbic acid) deficiency and has symptom fatigue, weakness, anemia, petechiae, corkscrew hair, gingivitis, and poor wound healing.

GARD : 20 Scurvy is a condition that develops in people who do not consume an adequate amount of vitamin C in their diet. Although scurvy is relatively rare in the United States, it continues to be a problem in malnourished populations around the world (such as impoverished, underdeveloped third world countries). Early features of the condition include general weakness, fatigue and aching limbs. If left untreated, more serious problems can develop such as anemia, gum disease, and skin hemorrhages. Symptoms generally develop after at least 3 months of severe or total vitamin C deficiency. Scurvy can be cured with vitamin C supplements taken by mouth. Once recovery is complete, dietary modifications to ensure the "recommended daily intake" of vitamin C is reached will prevent relapse. Except in the case of severe dental disease, permanent damage from scurvy does not usually occur.

MedlinePlus : 42 Vitamins are substances that your body needs to grow and develop normally. Vitamin C is an antioxidant. It is important for your skin, bones, and connective tissue. It promotes healing and helps the body absorb iron. Vitamin C comes from fruits and vegetables. Good sources include citrus, red and green peppers, tomatoes, broccoli, and greens. Some juices and cereals have added vitamin C. Some people may need extra vitamin C: Pregnant/breastfeeding women Smokers People recovering from surgery Burn victims

Wikipedia : 73 Scurvy is a disease resulting from a lack of vitamin C (ascorbic acid). Early symptoms of deficiency... more...

More information from OMIM: 240400

Related Diseases for Hypoascorbemia

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

(show top 50) (show all 807)
# Related Disease Score Top Affiliating Genes
1 iron-refractory iron deficiency anemia 11.1
2 iron overload in africa 11.1
3 tyrosinemia 11.1
4 osmotic diarrhea 11.0
5 hematohidrosis 11.0
6 purpura 10.5
7 pre-eclampsia 10.5
8 rickets 10.5
9 helicobacter pylori infection 10.4
10 deficiency anemia 10.4
11 exanthem 10.4
12 keratosis 10.4
13 eclampsia 10.4
14 cataract 10.4
15 pneumonia 10.3
16 type 2 diabetes mellitus 10.3
17 gingivitis 10.3
18 vasculitis 10.3
19 atrophic gastritis 10.3
20 breast cancer 10.3
21 asthma 10.3
22 cerebral palsy 10.3
23 hemarthrosis 10.3
24 triiodothyronine receptor auxiliary protein 10.2
25 covid-19 10.2
26 adult respiratory distress syndrome 10.2
27 autoimmune disease 10.2
28 hypertension, essential 10.2
29 atrial fibrillation 10.2
30 severe acute respiratory syndrome 10.2
31 ischemia 10.2
32 infertility 10.2
33 diabetes mellitus 10.2
34 hypoxia 10.2
35 anorexia nervosa 10.2
36 mycobacterium tuberculosis 1 10.2
37 postherpetic neuralgia 10.2
38 bladder cancer 10.2
39 esophageal cancer 10.2
40 alcohol dependence 10.2
41 autism 10.2
42 autism spectrum disorder 10.2
43 osteomyelitis 10.2
44 pellagra 10.2
45 arteries, anomalies of 10.2
46 lipoprotein quantitative trait locus 10.2
47 respiratory failure 10.2
48 chagas disease 10.2
49 hyperuricemia 10.2
50 acute kidney failure 10.2

Graphical network of the top 20 diseases related to Hypoascorbemia:



Diseases related to Hypoascorbemia

Symptoms & Phenotypes for Hypoascorbemia

Human phenotypes related to Hypoascorbemia:

31
# Description HPO Frequency HPO Source Accession
1 abnormality of metabolism/homeostasis 31 HP:0001939

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Laboratory Abnormalities:
hypoascorbemia
l-gulonolactone oxidase deficiency

Clinical features from OMIM®:

240400 (Updated 05-Apr-2021)

Symptoms:

12
  • fatigue

MGI Mouse Phenotypes related to Hypoascorbemia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.4 AKR1A1 ALB ERO1B MIOX P3H2 P4HB

Drugs & Therapeutics for Hypoascorbemia

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

(show top 50) (show all 489)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Atorvastatin Approved Phase 4 134523-00-5 60823
2
Morphine Approved, Investigational Phase 4 57-27-2 5288826
3
Ferrous fumarate Approved Phase 4 141-01-5
4
Nebivolol Approved, Investigational Phase 4 152520-56-4, 118457-14-0, 99200-09-6 71301
5
Metoprolol Approved, Investigational Phase 4 37350-58-6, 51384-51-1 4171
6
chloroquine Approved, Investigational, Vet_approved Phase 4 54-05-7 2719
7
Ferrous succinate Approved Phase 4 10030-90-7
8
Nitroglycerin Approved, Investigational Phase 4 55-63-0 4510
9
Bisacodyl Approved Phase 4 603-50-9
10
Pyrimethamine Approved, Investigational, Vet_approved Phase 4 58-14-0 4993
11
Sulfadoxine Approved, Investigational Phase 4 2447-57-6 17134
12
tannic acid Approved Phase 4 1401-55-4
13
Titanium dioxide Approved Phase 4 13463-67-7
14
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
15
Ofloxacin Approved Phase 4 82419-36-1 4583
16
Oseltamivir Approved Phase 4 204255-11-8, 196618-13-0 65028
17
Levofloxacin Approved, Investigational Phase 4 100986-85-4 149096
18
Ceftaroline fosamil Approved, Investigational Phase 4 229016-73-3
19
Ceftriaxone Approved Phase 4 73384-59-5 5479530 5361919
20
Roxithromycin Approved, Investigational, Withdrawn Phase 4 80214-83-1 6915744 444037
21
Clarithromycin Approved Phase 4 81103-11-9 84029
22
Amoxicillin Approved, Vet_approved Phase 4 26787-78-0 33613
23
Heparin Approved, Investigational Phase 4 9005-49-6 772 9812414
24
Tazobactam Approved Phase 4 89786-04-9 123630
25
Clopidogrel Approved Phase 4 113665-84-2, 120202-66-6 60606
26
Dalteparin Approved Phase 4 9005-49-6
27
Moxifloxacin Approved, Investigational Phase 4 354812-41-2, 151096-09-2 152946
28
Piperacillin Approved Phase 4 66258-76-2 43672
29
Ticagrelor Approved Phase 4 274693-27-5 9871419
30
Simvastatin Approved Phase 4 79902-63-9 54454
31
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
32
Tinzaparin Approved Phase 4 9041-08-1, 9005-49-6 25244225
33
Apremilast Approved, Investigational Phase 4 608141-41-9 11561674
34
Interferon beta-1a Approved, Investigational Phase 4 145258-61-3 6438354
35
Selenium Approved, Investigational, Vet_approved Phase 4 7782-49-2
36
Methylcobalamin Approved, Investigational Phase 4 13422-55-4
37
Hydroxocobalamin Approved Phase 4 13422-51-0 11953898 15589840
38
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741
39
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 5754
40
Hydrocortisone acetate Approved, Vet_approved Phase 4 50-03-3
41
Guaifenesin Approved, Investigational, Vet_approved Phase 4 93-14-1 3516
42
Phenylpropanolamine Approved, Vet_approved, Withdrawn Phase 4 14838-15-4 26934
43
Bacitracin Approved, Vet_approved Phase 4 1405-87-4 10909430 439542
44
Melatonin Approved, Nutraceutical, Vet_approved Phase 4 73-31-4 896
45
Riboflavin Approved, Investigational, Nutraceutical, Vet_approved Phase 4 83-88-5 493570
46
Cyanocobalamin Approved, Nutraceutical Phase 4 68-19-9 44176380
47
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved Phase 4 65-23-6 1054
48
Methionine Approved, Nutraceutical Phase 4 63-68-3 6137
49
Betaine Approved, Nutraceutical Phase 4 107-43-7, 6915-17-9 248
50
Thiamine Approved, Investigational, Nutraceutical, Vet_approved Phase 4 70-16-6, 59-43-8 1130

Interventional clinical trials:

(show top 50) (show all 450)
# Name Status NCT ID Phase Drugs
1 Randomized Cross-Over Trial of Captafer® vs. Oral Iron Sulfate in the Treatment of Iron Deficiency Anemia in Patients With Inflammatory Bowel Disease Unknown status NCT02774057 Phase 4 Captafer®;Iron Sulfate
2 Effect of Multi-vitamins With Minerals on Uric Acid Metabolism in Subjects With Hyperuricemia: A Randomized, Double-blinded, Placebo-controlled Trail Unknown status NCT03218709 Phase 4
3 Effect of Vitamin C Infusion on Coronary Reperfusion Indexes Unknown status NCT01090895 Phase 4 Vitamin C;Placebo
4 Randomized Placebo Controlled Trial of Postoperative Pain After Intravenous Vitamin C Injection for Arthroscopic Rotator Cuff Repair Unknown status NCT02992028 Phase 4 Intravenous Nutrition (Vitamins) injection;Intravenous Saline injection
5 The Effect of a Nutrient Fortified Oat Drink on Iron, Zinc, Vitamin A, and Vitamin C Status Among Filipino Children Unknown status NCT01418898 Phase 4
6 Effects of Long-term Vitamin C+E and Statin Therapy on Vasospasm Improvement and Regression of Atheroma in Patients With Variant Angina Unknown status NCT03228238 Phase 4 Vitamin C and Vitamin E;Statin;Standard medication for variant angina
7 Effects of Vitamin C, Thiamine and Hydrocortisone in Septic Shock: a Randomized, Controlled Trial Unknown status NCT04039815 Phase 4 Ascorbic acid-Vitamin B1-Hydrocortisone;Placebo
8 Comparison Of The Effects Of Preoperative Melatonin Or Vitamin C Administration On Postoperative Analgesia Unknown status NCT02639741 Phase 4 Melatonin;Vitamin C
9 Oxidative Stress In Semen And Male Infertility Unknown status NCT03464656 Phase 4 Fairhaven Pro for men
10 Improving Gait in Persons With Knee Related Mobility Limitations by Rosenoids® Food Supplement: a Randomized Double-blind Placebo-controlled Trial Completed NCT01927848 Phase 4
11 Assessment of the Effect of Vitamin C on Anemia in Patients With Continuous Ambulatory Peritoneal Dialysi Completed NCT02780505 Phase 4 vitamin c;placebo
12 Iron Bioavailability Study Of Fortified Oat Drink Completed NCT01423162 Phase 4
13 Effect of Oral Vitamin C on The Inflammatory Biomarkers in Hemodialysis Completed NCT01356433 Phase 4 oral vitamin C;oral vitamin C
14 Cognitive and Cerebral Blood Flow Effects of Vitamin C Completed NCT01055418 Phase 4
15 Nebivolol and Endothelial Regulation of Fibrinolysis Completed NCT01595516 Phase 4 Nebivolol;Metoprolol;Placebo
16 Effect of Prenatal Nutritional Supplementation on Birth Outcome in Hounde District, Burkina Faso Completed NCT00909974 Phase 4
17 Pharmacokinetics of Two Different High-dose Regimens of Intravenous Vitamin C in Critically Ill Patients Completed NCT02455180 Phase 4 Ascorbic Acid
18 Prophylactic Administration of Vitamin C in Wrist Fractures; a Randomized Placebo Controlled Multicentre Dose-Finding Study of the Incidence of Complex Regional Pain Syndrome Completed NCT00296868 Phase 4 ascorbic acid (vitamin C) versus placebo
19 Double-Blind, Randomized Study of High Dose Vitamin C On Outcome in Cardiac Surgery Patients Completed NCT01167569 Phase 4 Ascorbic Acid
20 The Role of a Single Oral Dose (2g) of Vitamin C in Reducing Intensity of Pain and Opioids Consumption in Patients Undergoing Laparoscopic Cholecystectomy. A Randomized, Double-blinded, Placebo-controlled Study Completed NCT01322061 Phase 4 Ascorbic Acid
21 The First-day High Dose Vitamin E and Vitamin C in Hypoxic Ischemic Encephalopathy (Following Birth Asphyxia) in Newborns Completed NCT01743742 Phase 4 Vitamin E, Vitamin C
22 The Efficacy and Safety of Vitamin C for Iron Supplementation Therapy in Adult Patients With Iron Deficiency Anemia(IDA) Completed NCT02631668 Phase 4 ferrous succinate and vitamin C;ferrous succinate;ferrous succinate
23 Effects of Vitamin C and E on Endothelial Function in Adolescent Diabetes Completed NCT02019186 Phase 4
24 Phase 4 Study of High Dose Vitamin C in Chronic Hepatitis Patients Completed NCT01413360 Phase 4 High dose vitamin C
25 Effect of Low Doses of Vitamin C on Salivary Cortisol , Heart Rate , Blood Pressure During Group Presentation Completed NCT04135378 Phase 4 ascorbic acid
26 Effects of the Preoperative Administration of Dexketoprofen Trometamol on Pain and Swelling After Implant Surgery: a Randomized, Double-blind Controlled Trial. Completed NCT03107338 Phase 4 DEXKETOPROFEN TROMETAMOL
27 Physiological Effects of Gestational Diabetes on the Placenta and Neonatal Outcome; Role of Antioxidant Administration Completed NCT02355197 Phase 4 L-ascorbic acid
28 Effect of Antioxidants on Ocular Blood Flow, Endothelial Function, and Cytokine Levels in LPS Induced Inflammatory Model in Humans. Completed NCT00431691 Phase 4 vitamin and mineral supplement;Escherichia coli Endotoxin (LPS);100% O2;nitroglycerin
29 2L Oral Bi-PegLyte Versus 2L Oral MoviPrep Regimen for Outpatient Colonic Preparation: A Randomized, Non-Inferiority Open Trial Completed NCT01865916 Phase 4 Polyethylene Glycol (PEG) and 15 mg Bisacodyl;Polyethylene Glycol (PEG) + ascorbic acid
30 FLIPS: Ferfer Liposomal Iron Performance Study Completed NCT03112187 Phase 4 Iron Supplement
31 Diarrhea, Malaria, Anemia, and Helminthiasis Prevention Through Household-based Interventions in Rural Western Kenya: the Nyando Integrated Child Health and Education (NICHE) Project Completed NCT01088958 Phase 4
32 Prevention of Intrauterine Growth Retardation in Hounde District, Burkina Faso: the Malaria Component Completed NCT00680732 Phase 4 Chloroquine (CQ);Sulphadoxyne-pyrimethamine (SP)
33 Oxidative Damage and Inflammation in Obese Diabetic Emirati Subjects Supplemented With Antioxidants and B-vitamins: a Randomized Placebo-controlled Trail Completed NCT01691365 Phase 4 Placebo
34 The Effectiveness of Pleuran in Treatment of Acute Gastroenteritis in Children- a Randomized, Placebo-controlled, Double-blind Trial Recruiting NCT03988257 Phase 4
35 The Impact of Vitamin C on Postoperative Acute Kidney Injury in Risk Patients Undergoing Valvular Heart Surgery Recruiting NCT04210453 Phase 4 Vitamin C;Control (Normal saline)
36 The Study of Quadruple Therapy Zinc, Quercetin, Bromelain and Vitamin C on the Clinical Outcomes of Patients Infected With COVID-19 Recruiting NCT04468139 Phase 4 Quercetin;Zinc;Vitamin C
37 Can Vitamin C Reduce the Risk of Postoperative Shoulder Stiffness? A Mono-center, Double-blinded, Randomized and Placebo-controlled Study Recruiting NCT04472000 Phase 4 Vitamin C;Placebo
38 Randomized, Embedded, Multifactorial Adaptive Platform Trial for Community- Acquired Pneumonia Recruiting NCT02735707 Phase 4 Fixed-duration Hydrocortisone;Shock-dependent hydrocortisone;Ceftriaxone;Moxifloxacin or Levofloxacin;Piperacillin-tazobactam;Ceftaroline;Amoxicillin-clavulanate;Macrolide administered for 3-5 days;Macrolide administered for up to 14 days;Five-days oseltamivir;Ten-days oseltamivir;Lopinavir/ritonavir;Hydroxychloroquine;Hydroxychloroquine + lopinavir/ritonavir;Interferon-β1a;Anakinra;Fixed-duration higher dose Hydrocortisone;Tocilizumab;Sarilumab;Vitamin C;Therapeutic anticoagulation;Simvastatin;Eritoran;Apremilast;Aspirin;Clopidogrel;Prasugrel;Ticagrelor
39 The Effect Of Hyaluronic Acid And Melatonin With Systemic Administration of Vitamin C On Implant Stability After Immediate Implant Placement in Anterior and Premolar Region in Systemically Healthy Patients Not yet recruiting NCT03804177 Phase 4
40 Parenteral Ascorbic Acid Repletion in TransplantatIon (PARTI): A Randomized, Double-Blinded, Placebo-Controlled Trial Not yet recruiting NCT04756063 Phase 4 Ascorbic acid
41 Use of Sumor in the Antidepressant Therapy of Subjects With Major Depression: a Randomized Placebo-controlled Clinical Trial Not yet recruiting NCT04832178 Phase 4
42 Low Dose Euthyrox in Treatments of Paraquat Intoxication: a Randomized, Controlled, Multicenter Trial in China. Not yet recruiting NCT04132622 Phase 4 Levothyroxine Sodium;Traditional therapy
43 Investigation of Macular Pigment Augmentation on Dark Adaptation Terminated NCT00478439 Phase 4
44 A Randomized, Double Blind, Placebo-Controlled Study to Investigate the Effects of Vitamin C, Hydrocortisone and Thiamine on the Outcome of Patients With Severe Sepsis and Septic Shock Terminated NCT03335124 Phase 4 Vitamin C;Hydrocortisone;Thiamine;0.9% Sodium Chloride Injection
45 Vitamin C for Prevention of Urinary Tract Infections in the Spinal Cord Injured Terminated NCT00869427 Phase 4 vitamin C
46 The Relationship of Hemoglobin A1c and Diabetic Wound Healing Terminated NCT01350102 Phase 4 Bacitracin;AmeriGel®
47 Study of Safty and Efficacy of Adjuvant Vitamin c in Augmenting Iron Chelation Unknown status NCT02083575 Phase 2, Phase 3 Vitamin C, Defriprone, deferisarox;deferiprone , deferesarox
48 Controlled, Randomized, Double-blind, Multicentre Study on Efficacy and Safety of Echinaforce Junior Tablets in Comparison With Vitamin C for the Prevention of Viral Respiratory Tract Infections in Children (4-12 Years) Unknown status NCT02971384 Phase 3 Echinaforce
49 Clinical Trials Phase III, Double Blind, Crossover to Asses the Safety and Efficacy of Vitamin C and Vitamin E in Combination Versus Placebo for Treating Cognitive and Behavior Disorder in Children With Fragile X Syndrome Unknown status NCT02942498 Phase 3 Vitamin C 10mg/Kg Vitamin E 10 mg/Kg;Placebo
50 Evaluation of Hydrocortisone, Vitamin C and Thiamine for the Treatment of Septic Shock Unknown status NCT03380507 Phase 2, Phase 3 Triple therapy group

Search NIH Clinical Center for Hypoascorbemia

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


Ascorbic Acid
Ascorbic Acid Powder
Sodium Ascorbate

Cochrane evidence based reviews: scurvy

Genetic Tests for Hypoascorbemia

Anatomical Context for Hypoascorbemia

MalaCards organs/tissues related to Hypoascorbemia:

40
Endothelial, Skin, Bone, Liver, Eye, Colon, Skeletal Muscle

Publications for Hypoascorbemia

Articles related to Hypoascorbemia:

(show top 50) (show all 1837)
# Title Authors PMID Year
1
Ascorbic-acid transporter Slc23a1 is essential for vitamin C transport into the brain and for perinatal survival. 61 57
11984597 2002
2
A missense mutation of L-gulono-gamma-lactone oxidase causes the inability of scurvy-prone osteogenic disorder rats to synthesize L-ascorbic acid. 61 57
1400508 1992
3
Homo sapiens ascorbicus, a biochemically corrected robust human mutant. 61 57
491997 1979
4
Immunologic evidence that the gene for L-gulono-gamma-lactone oxidase is not expressed in animals subject to scurvy. 57 61
819930 1976
5
The genetic disease, Hypoascorbemia. A fresh approach to an ancient disease and some of its medical implications. 57 61
6063937 1967
6
New view at C. 57
11984580 2002
7
Vitamin C pharmacokinetics in healthy volunteers: evidence for a recommended dietary allowance. 57
8623000 1996
8
Cloning and chromosomal mapping of the human nonfunctional gene for L-gulono-gamma-lactone oxidase, the enzyme for L-ascorbic acid biosynthesis missing in man. 57
8175804 1994
9
Guinea pigs possess a highly mutated gene for L-gulono-gamma-lactone oxidase, the key enzyme for L-ascorbic acid biosynthesis missing in this species. 57
1400507 1992
10
Occurrence in humans and guinea pigs of the gene related to their missing enzyme L-gulono-gamma-lactone oxidase. 57
3214183 1988
11
New concepts in the biology and biochemistry of ascorbic acid. 57
3513016 1986
12
Evolution and the biosynthesis of ascorbic acid. 57
4752221 1973
13
Evolution and the need for ascorbic acid. 57
5275366 1970
14
Non-Darwinian evolution. 57
5767777 1969
15
The influence of vitamin-C intake on blood glucose measurements in COVID-19 pandemic. 42
33690202 2021
16
Safety and effectiveness of high-dose vitamin C in patients with COVID-19: a randomized open-label clinical trial. 42
33573699 2021
17
Effect of High-Dose Zinc and Ascorbic Acid Supplementation vs Usual Care on Symptom Length and Reduction Among Ambulatory Patients With SARS-CoV-2 Infection: The COVID A to Z Randomized Clinical Trial. 42
33576820 2021
18
Pediatric scurvy MRI appearance. 61
33747331 2021
19
Ascorbic Acid Route to the Endoplasmic Reticulum: Function and Role in Disease. 61
31867990 2021
20
A review of the effectiveness of hibiscus for treatment of metabolic syndrome. 61
33383111 2021
21
Ascorbic acid in the acute care setting. 61
33675075 2021
22
Death in the Arctic - the tragic fate of members of the Franklin expedition (1845). 61
32845447 2021
23
Nutritional Deficiency Disease Secondary to ARFID Symptoms Associated with Autism and the Broad Autism Phenotype: A Qualitative Systematic Review of Case Reports and Case Series. 61
33221247 2021
24
Scurvy in a Pediatric Patient With Autism and Limp: A Case Report. 61
33109434 2021
25
Scurvy: hard to remember, easy to diagnose and treat. 61
33622632 2021
26
Scurvy preceded by hematuria and gait difficulties in two pediatric patients. 61
33638223 2021
27
[Scurvy presenting with low-extremity necrotic and purpuric ulcers: Two cases]. 61
33203540 2021
28
Scurvy: a forgotten cause of purpuric rash. 61
33655521 2021
29
Modern Day Scurvy in Pediatric Orthopaedics: A Forgotten Illness. 61
33528119 2021
30
Scurvy-associated oral mucosal bleeding presenting as suspected haematemesis. 61
33738946 2021
31
Identifying Social Determinants of Health Leads to the Diagnoses of Scurvy in the Developed World. Case Report. 61
33681707 2021
32
Scurvy, Starvation, and Flea Infestation - A Case Report From 21st Century Europe. 61
33728161 2021
33
"What can you C in a limping child?" Scurvy in an otherwise healthy "picky eater". 61
33109452 2021
34
Bleeding tendency and ascorbic acid requirements: systematic review and meta-analysis of clinical trials. 61
33517432 2021
35
Vitamin C-Sources, Physiological Role, Kinetics, Deficiency, Use, Toxicity, and Determination. 61
33668681 2021
36
The cobbler's children have no shoes: scurvy in a farmer. 61
33393090 2021
37
A Bendable Biofuel Cell-Based Fully Integrated Biomedical Nanodevice for Point-of-Care Diagnosis of Scurvy. 61
33356148 2021
38
Scurvy: A Rare Cause of Bone Marrow Edema. 61
31868833 2021
39
Clinical Profile of Scurvy in Hamilton Since 2009: a Cohort Study. 61
31942674 2021
40
Dermatological Manifestations in Inflammatory Bowel Diseases. 61
33477990 2021
41
A Case Report of a Modern-Day Scurvy. 61
33654545 2021
42
From blocked flows to suppressed emotions: the life of a trope. 61
33303624 2020
43
Scurvy: A Disease not to be Forgotten. 61
33368529 2020
44
The Scottish Scurvy Epidemic of 1847. 61
33469627 2020
45
Scurvy presenting as lower limb ecchymoses in the setting of metastatic colorectal cancer. 61
33370932 2020
46
Revisiting the pathobiology of scurvy: a review of the literature in the context of a challenging case. 61
32154584 2020
47
Keratosis pilaris with adjacent haemosiderin deposition: a clue to scurvy. 61
33317905 2020
48
Thiamine Deficiency as a Cause for Acute Circulatory Failure: An Overlooked Association in Western Countries. 61
33305236 2020
49
Correlation of D-xylose with severity and morbidity-related factors of COVID-19 and possible therapeutic use of D-xylose and antibiotics for COVID-19. 61
32846167 2020
50
A multifunctional electrochemical sensor for the simultaneous detection of ascorbic acid, dopamine, uric acid, and nitrite. 61
33201187 2020

Variations for Hypoascorbemia

Expression for Hypoascorbemia

Search GEO for disease gene expression data for Hypoascorbemia.

Pathways for Hypoascorbemia

Pathways related to Hypoascorbemia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.72 SLC2A3 SLC2A14 SLC2A1 SLC23A2 SLC23A1 RGN
2
Show member pathways
12.23 SLC2A3 SLC2A1 SLC23A2 SLC23A1
3 11.59 SLC2A3 SLC2A14 SLC2A1
4
Show member pathways
11.13 SLC2A3 SLC2A14 SLC2A1
5 10.97 SLC2A3 SLC2A1
6
Show member pathways
10.65 RGN MIOX AKR1A1
7 10.52 PRDX4 AKR1A1

GO Terms for Hypoascorbemia

Cellular components related to Hypoascorbemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 apical plasma membrane GO:0016324 8.92 SLC2A1 SLC23A2 SLC23A1 AKR1A1

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.93 SLC2A3 SLC2A14 SLC2A1 SLC23A3 SLC23A2 SLC23A1
2 oxidation-reduction process GO:0055114 9.7 TET1 PRDX4 P4HB P3H2 MIOX ERO1B
3 carbohydrate transport GO:0008643 9.61 SLC2A3 SLC2A14 SLC2A1
4 protein folding in endoplasmic reticulum GO:0034975 9.51 P4HB ERO1B
5 peptidyl-proline hydroxylation to 4-hydroxy-L-proline GO:0018401 9.49 PRDX4 P4HB
6 glucose import across plasma membrane GO:0098708 9.48 SLC2A3 SLC2A1
7 glucose transmembrane transport GO:1904659 9.43 SLC2A3 SLC2A14 SLC2A1
8 transepithelial L-ascorbic acid transport GO:0070904 9.4 SLC23A2 SLC23A1
9 L-ascorbic acid biosynthetic process GO:0019853 9.37 RGN AKR1A1
10 L-ascorbic acid transmembrane transport GO:0015882 9.32 SLC23A2 SLC23A1
11 dehydroascorbic acid transport GO:0070837 9.13 SLC2A14 SLC2A1 SLC23A1
12 L-ascorbic acid metabolic process GO:0019852 8.92 SLC2A3 SLC2A1 SLC23A2 SLC23A1

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.88 TET1 PRDX4 P3H2 MIOX ERO1B AKR1A1
2 iron ion binding GO:0005506 9.7 TET1 P3H2 MIOX
3 dioxygenase activity GO:0051213 9.65 TET1 P4HB P3H2
4 transporter activity GO:0005215 9.61 SLC23A3 SLC23A2 SLC23A1
5 antioxidant activity GO:0016209 9.54 PRDX4 ALB
6 protein disulfide isomerase activity GO:0003756 9.51 P4HB ERO1B
7 aldo-keto reductase (NADP) activity GO:0004033 9.49 MIOX AKR1A1
8 thiol oxidase activity GO:0016972 9.46 P4HB ERO1B
9 sodium-dependent L-ascorbate transmembrane transporter activity GO:0070890 9.37 SLC23A2 SLC23A1
10 glucose transmembrane transporter activity GO:0005355 9.33 SLC2A3 SLC2A14 SLC2A1
11 L-ascorbic acid transmembrane transporter activity GO:0015229 9.32 SLC23A2 SLC23A1
12 L-ascorbate:sodium symporter activity GO:0008520 9.26 SLC23A2 SLC23A1
13 dehydroascorbic acid transmembrane transporter activity GO:0033300 9.13 SLC2A14 SLC2A1 SLC23A1
14 transmembrane transporter activity GO:0022857 9.1 SLC2A3 SLC2A14 SLC2A1 SLC23A3 SLC23A2 SLC23A1

Sources for Hypoascorbemia

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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