MCID: HYP781
MIFTS: 51

Hypoascorbemia

Categories: Metabolic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Hypoascorbemia

MalaCards integrated aliases for Hypoascorbemia:

Name: Hypoascorbemia 56 52
Scurvy 56 12 74 52 13 43 15 17 71
Ascorbic Acid Deficiency 71 32
Vitamin C Deficiency 52 36
Vitamin C, Inability to Synthesize 56
Deficiency of Vitamin C 52
Scorbutus 52
Vitamin C 42

Characteristics:

OMIM:

56
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 56 240400
KEGG 36 H01580
MeSH 43 D012614
NCIt 49 C35010
ICD10 32 E54
MedGen 41 C0036474
SNOMED-CT via HPO 68 258211005
UMLS 71 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 tyrosinemia, and has symptoms including fatigue An important gene associated with Hypoascorbemia is GULOP (Gulonolactone (L-) Oxidase, Pseudogene), and among its related pathways/superpathways is Prostaglandin 2 biosynthesis and metabolism FM. The drugs Aspirin and Meperidine have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and endothelial, and related phenotypes are abnormality of metabolism/homeostasis and endocrine/exocrine gland

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.

NIH Rare Diseases : 52 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 : 74 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 799)
# Related Disease Score Top Affiliating Genes
1 iron-refractory iron deficiency anemia 11.6
2 tyrosinemia 11.3
3 iron overload in africa 11.3
4 osmotic diarrhea 11.2
5 hematohidrosis 11.2
6 purpura 10.6
7 rickets 10.6
8 pre-eclampsia 10.5
9 exanthem 10.4
10 keratosis 10.4
11 vasculitis 10.4
12 cataract 10.4
13 deficiency anemia 10.4
14 gingivitis 10.4
15 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 10.4
16 cerebral palsy 10.3
17 hemarthrosis 10.3
18 eclampsia 10.3
19 kidney disease 10.3
20 helicobacter pylori infection 10.3
21 alcohol dependence 10.3
22 autism 10.3
23 anorexia nervosa 10.3
24 osteomyelitis 10.3
25 pellagra 10.3
26 gastric cancer 10.3
27 atherosclerosis susceptibility 10.2
28 kwashiorkor 10.2
29 osteoporosis 10.2
30 bone mineral density quantitative trait locus 8 10.2
31 bone mineral density quantitative trait locus 15 10.2
32 autism spectrum disorder 10.2
33 pulmonary hypertension 10.2
34 megaloblastic anemia 10.2
35 posttransplant acute limbic encephalitis 10.2
36 rapidly involuting congenital hemangioma 10.2
37 bladder cancer 10.2
38 hypertension, essential 10.2
39 exophthalmos 10.2
40 autoimmune disease 10.2
41 dermatitis 10.2
42 atrophic gastritis 10.2
43 hypoxia 10.2
44 thalassemia 10.1
45 colorectal cancer 10.1
46 triiodothyronine receptor auxiliary protein 10.1
47 asthma 10.1
48 pneumonia 10.1
49 esophageal cancer 10.1
50 skin carcinoma 10.1

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:

56
Laboratory Abnormalities:
hypoascorbemia
l-gulonolactone oxidase deficiency

Clinical features from OMIM:

240400

Symptoms:

12
  • fatigue

MGI Mouse Phenotypes related to Hypoascorbemia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.56 ALB DBH ERO1B HR P4HB PRDX4
2 homeostasis/metabolism MP:0005376 9.44 AKR1A1 ALB CTSC DBH ERO1B HR

Drugs & Therapeutics for Hypoascorbemia

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

(show top 50) (show all 510)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
2
Meperidine Approved Phase 4 57-42-1 4058
3
Tramadol Approved, Investigational Phase 4 27203-92-5 33741
4
Ketoprofen Approved, Vet_approved Phase 4 22071-15-4 3825
5
Ferrous succinate Approved Phase 4 10030-90-7
6
Metoprolol Approved, Investigational Phase 4 37350-58-6, 51384-51-1 4171
7
Nebivolol Approved, Investigational Phase 4 99200-09-6, 118457-14-0, 152520-56-4 71301
8
Bisacodyl Approved Phase 4 603-50-9
9
chloroquine Approved, Investigational, Vet_approved Phase 4 54-05-7 2719
10
Sulfadoxine Approved, Investigational Phase 4 2447-57-6 17134
11
Pyrimethamine Approved, Investigational, Vet_approved Phase 4 58-14-0 4993
12
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
13
Methenamine Approved, Vet_approved Phase 4 100-97-0 4101
14
Trimethoprim Approved, Vet_approved Phase 4 738-70-5 5578
15
Morphine Approved, Investigational Phase 4 57-27-2 5288826
16
Pentoxifylline Approved, Investigational Phase 4 6493-05-6 4740
17
Ferrous fumarate Approved Phase 4 141-01-5
18
Zinc Approved, Investigational Phase 4 7440-66-6 32051
19
Tocopherol Approved, Investigational Phase 4 1406-66-2, 54-28-4 14986
20
Selenium Approved, Investigational, Vet_approved Phase 4 7782-49-2
21
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741
22
Hydroxychloroquine Approved Phase 4 118-42-3 3652
23
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 5754
24
Hydrocortisone acetate Approved, Vet_approved Phase 4 50-03-3
25
Guaifenesin Approved, Investigational, Vet_approved Phase 4 93-14-1 3516
26
Bacitracin Approved, Vet_approved Phase 4 1405-87-4 439542 10909430
27
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4 59-02-9 14985
28
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 22737-96-8, 68-26-8, 11103-57-4 9904001 445354
29
Melatonin Approved, Nutraceutical, Vet_approved Phase 4 73-31-4 896
30
Thiamine Approved, Investigational, Nutraceutical, Vet_approved Phase 4 59-43-8, 70-16-6 1130
31
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
32
Uric acid Investigational Phase 4 69-93-2 1175
33
Bradykinin Investigational Phase 4 58-82-2 439201
34
Trichostatin A Experimental Phase 4 58880-19-6
35 Tocotrienol Investigational Phase 4 6829-55-6
36 Fibrinolytic Agents Phase 4
37 Narcotics Phase 4
38 Epoetin alfa Phase 4 113427-24-0
39 Anti-Arrhythmia Agents Phase 4
40 Rose Hips Phase 4
41 Analgesics, Opioid Phase 4
42 Cola Phase 4
43 Estrogens Phase 4
44 Dexketoprofen trometamol Phase 4
45
Procyanidin Phase 4 4852-22-6 147299
46 Proanthocyanidin Phase 4
47 Cytochrome P-450 Enzyme Inhibitors Phase 4
48 Adrenergic beta-Agonists Phase 4
49 Kininogens Phase 4
50 Adrenergic beta-1 Receptor Antagonists Phase 4

Interventional clinical trials:

(show top 50) (show all 651)
# Name Status NCT ID Phase Drugs
1 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
2 Effect of Vitamin C Infusion on Coronary Reperfusion Indexes Unknown status NCT01090895 Phase 4 Vitamin C;Placebo
3 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
4 Effect of Preoperative Aspirin in Patients Undergoing Off-pump Coronary Artery Bypass Grafting: A Double-blind, Placebo-controlled, Randomized Trial Unknown status NCT03049085 Phase 4 Aspirin;vitamin C
5 Intraoperative Use of Dexketoprofen Trometamol, Tramadol Hcl, Pethidine Hcl and Their Combinations for Postoperative Pain Management in Laparoscopic Nissen Fundoplication Unknown status NCT01558622 Phase 4 dexketoprofen trometamol;tramadol hydrochloride;pethidine hydrochloride;dexketoprofen trometamol + tramadol hydrochloride;dexketoprofen trometamol + pethidine hydrochloride;vitamin c
6 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
7 Effect of Helicobacter Pylori on the Availability of Vitamin E and C Unknown status NCT00303160 Phase 4 vitamin C & E supplements
8 High-dose Ascorbic Acid Intravenous Injection Decreases Mitochondrial DNA Damage in Chronic Fatigue Patients: Randomized-controlled Study Unknown status NCT01926132 Phase 4 ascorbic acid 10g/20ml;Normal Saline 150ml
9 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
10 Oxidative Stress In Semen And Male Infertility Unknown status NCT03464656 Phase 4 Fairhaven Pro for men
11 Effect of Oral Vitamin C on The Inflammatory Biomarkers in Hemodialysis Completed NCT01356433 Phase 4 oral vitamin C;oral vitamin C
12 Pharmacokinetics of Two Different High-dose Regimens of Intravenous Vitamin C in Critically Ill Patients Completed NCT02455180 Phase 4 Ascorbic Acid
13 Assessment of the Effect of Vitamin C on Anemia in Patients With Continuous Ambulatory Peritoneal Dialysi Completed NCT02780505 Phase 4 vitamin c;placebo
14 Single High Dose Vitamin E and Vitamin C in Hypoxic Ischemic Encephalopathy (Following Birth Asphyxia)in Newborns Completed NCT01743742 Phase 4 Vitamin E, Vitamin C
15 Phase 4 Study of High Dose Vitamin C in Chronic Hepatitis Patients Completed NCT01413360 Phase 4 High dose vitamin C
16 Iron Bioavailability Study Of Fortified Oat Drink Completed NCT01423162 Phase 4
17 Cognitive and Cerebral Blood Flow Effects of Vitamin C Completed NCT01055418 Phase 4
18 Double-Blind, Randomized Study of High Dose Vitamin C On Outcome in Cardiac Surgery Patients Completed NCT01167569 Phase 4 Ascorbic Acid
19 Effects of Vitamin C and E on Endothelial Function in Adolescent Diabetes Completed NCT02019186 Phase 4
20 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
21 Improving Gait in Persons With Knee Related Mobility Limitations by Rosenoids® Food Supplement: a Randomized Double-blind Placebo-controlled Trial Completed NCT01927848 Phase 4
22 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
23 Effect of Low Doses of Vitamin C on Salivary Cortisol , Heart Rate , Blood Pressure During Group Presentation Completed NCT04135378 Phase 4 ascorbic acid
24 Physiological Effects of Gestational Diabetes on the Placenta and Neonatal Outcome; Role of Antioxidant Administration Completed NCT02355197 Phase 4 L-ascorbic acid
25 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
26 Ascorbic Acid Versus Diode Laser in the Treatment of Gingival Hyperpigmentation: Histological and Clinical Randomized Study Completed NCT03252418 Phase 4 Ascorbic Acid 500 MG
27 The Impact of Ascorbic Acid Therapy on Inflammatory Mediators in Cardiothoracic Surgery Patients: The Atrial Fibrillation Suppression Trial IV (AFIST IV) Pilot Study Completed NCT00519337 Phase 4 Ascorbic acid;Placebo
28 Hyperoxia and Antioxidants During Major Non-cardiac Surgery and Risk of Cardiovascular Complications, a Blinded 2x2 Factorial Randomised Clinical Trial Completed NCT03494387 Phase 4 Oxygen;Antioxidants
29 Nebivolol and Endothelial Regulation of Fibrinolysis Completed NCT01595516 Phase 4 Nebivolol;Metoprolol;Placebo
30 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
31 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
32 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
33 FLIPS: Ferfer Liposomal Iron Performance Study Completed NCT03112187 Phase 4 Iron Supplement
34 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
35 Prevention of Intrauterine Growth Retardation in Hounde District, Burkina Faso: the Malaria Component Completed NCT00680732 Phase 4 Chloroquine (CQ);Sulphadoxyne-pyrimethamine (SP)
36 The Treatment of Acute Schizophrenia With High Dose Niacinmide Plus Ascorbate Plus Pyridoxine Plus Centrum Forte vs. Centrum Forte Only as an Add-On to Risperidone and Dietary Counseling Completed NCT00140166 Phase 4 niacinamide;pyridoxine;ascorbate
37 Effect of Prenatal Nutritional Supplementation on Birth Outcome in Hounde District, Burkina Faso Completed NCT00909974 Phase 4
38 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
39 Methenamine Hippurate Versus Trimethoprim in the Prevention of Recurrent UTIs Completed NCT03077711 Phase 4 Trimethoprim;Methenamine hippurate
40 Prevention of Intrauterine Growth Retardation in Hounde District, Burkina Faso Completed NCT00642408 Phase 4
41 A Comparative Randomized Controlled Study of Arginine Free Immunoenhancing Diet and Isocaloric, Isonitrogenous Formula in Critically Ill Patients Completed NCT01713257 Phase 4
42 Prospective Double-Blind Randomized Controlled Clinical Trial in the Gingivitis Prevention With an Oligomeric Proanthocyanidins Nutritional Supplement Completed NCT02515929 Phase 4
43 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)
44 Comparison Of The Effects Of Preoperative Melatonin Or Vitamin C Administration On Postoperative Analgesia Recruiting NCT02639741 Phase 4 Melatonin;Vitamin C
45 Effects of Long-term Vitamin C+E and Statin Therapy on Vasospasm Improvement and Regression of Atheroma in Patients With Variant Angina Recruiting NCT03228238 Phase 4 Vitamin C and Vitamin E;Statin;Standard medication for variant angina
46 Effects of Ascorbic Acid Administration in the Treatment of Anemia in Chronic Hemodialysed Patients With Iron Overload Recruiting NCT02225886 Phase 4 Ascorbic Acid
47 The Effectiveness of Pleuran in Treatment of Acute Gastroenteritis in Children- a Randomized, Placebo-controlled, Double-blind Trial Recruiting NCT03988257 Phase 4
48 Pentoxifylline Effect on Renal Function, Oxidative Stress, Inflammation, and Fibrosis Markers, and Quality of Life in Patients With Diabetic Nephropathy Recruiting NCT03664414 Phase 4 pentoxifylline
49 A Randomized Controlled Trial of Pre-Operative Treatment With Ferrous Fumarate 300 mg Once Daily Versus Placebo in Newly Diagnoses Gynecologic Oncology Patients Who Are Primary Surgical Candidates. Active, not recruiting NCT01953107 Phase 4
50 Effects of Vitamin C, Thiamine and Hydrocortisone in Septic Shock: a Randomized, Controlled Trial Enrolling by invitation NCT04039815 Phase 4 Ascorbic acid-Vitamin B1-Hydrocortisone;Placebo

Search NIH Clinical Center for Hypoascorbemia

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


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
Skin, Bone, Endothelial, Lung, Heart, Liver, Eye

Publications for Hypoascorbemia

Articles related to Hypoascorbemia:

(show top 50) (show all 1756)
# Title Authors PMID Year
1
Ascorbic-acid transporter Slc23a1 is essential for vitamin C transport into the brain and for perinatal survival. 61 56
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 56
1400508 1992
3
Homo sapiens ascorbicus, a biochemically corrected robust human mutant. 61 56
491997 1979
4
Immunologic evidence that the gene for L-gulono-gamma-lactone oxidase is not expressed in animals subject to scurvy. 61 56
819930 1976
5
The genetic disease, Hypoascorbemia. A fresh approach to an ancient disease and some of its medical implications. 56 61
6063937 1967
6
New view at C. 56
11984580 2002
7
Vitamin C pharmacokinetics in healthy volunteers: evidence for a recommended dietary allowance. 56
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. 56
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. 56
1400507 1992
10
Occurrence in humans and guinea pigs of the gene related to their missing enzyme L-gulono-gamma-lactone oxidase. 56
3214183 1988
11
New concepts in the biology and biochemistry of ascorbic acid. 56
3513016 1986
12
Evolution and the biosynthesis of ascorbic acid. 56
4752221 1973
13
Evolution and the need for ascorbic acid. 56
5275366 1970
14
Non-Darwinian evolution. 56
5767777 1969
15
Effects of vitamin C supplementation on essential hypertension: A systematic review and meta-analysis. 42
32080138 2020
16
Efficacy of mosapride citrate with a split dose of polyethylene glycol plus ascorbic acid for bowel preparation in elderly patients: A randomized controlled trial. 42
31914075 2020
17
What Is the Effect of Vitamin C on Finger Stiffness After Distal Radius Fracture? A Double-blind, Placebo-controlled Randomized Trial. 42
32142501 2019
18
Interaction between aspirin and vitamin C with human serum albumin as binary and ternary systems. 61
32325408 2020
19
Infantile scurvy: Still a relevant differential diagnosis in Western medicine. 61
32247222 2020
20
Scurvy as a Sequela of Avoidant-Restrictive Food Intake Disorder in Autism: A Systematic Review. 61
32044868 2020
21
Vitamin C deficiency mimicking inflammatory bone disease of the hand. 61
32517792 2020
22
The neuropsychiatric effects of vitamin C deficiency: a systematic review. 61
32552785 2020
23
Metabolic diseases in Andean paleopathology: Retrospect and prospect. 61
31377145 2020
24
NASPGHAN Position Paper: Plant-Based Milks. 61
32459740 2020
25
The risk for scurvy in children with neurodevelopmental disorders. 61
32330999 2020
26
Mucocutaneous Manifestations of Scurvy. 61
32402165 2020
27
A bedside technique and historical aspects of the cutaneous findings in scurvy. 61
32446991 2020
28
No longer a historical ailment: two cases of childhood scurvy with recommendations for bone health providers. 61
31901946 2020
29
Comprehensive and quantitative stability study of ascorbic acid using capillary zone electrophoresis with ultraviolet detection and high-resolution tandem mass spectrometry. 61
32384201 2020
30
[Bloody tears: About a case and a review of the literature]. 61
31882188 2020
31
On the effect of vitamin C intake on human health: How to (mis)interprete the clinical evidence. 61
32535545 2020
32
Patients with Community Acquired Pneumonia Exhibit Depleted Vitamin C Status and Elevated Oxidative Stress. 61
32384616 2020
33
Childhood Scurvy: A Nearly Extinct Disease Posing a New Diagnostic Challenge, a Case Report. 61
31504984 2020
34
Scurvy: An Unexpected Nutritional Complication in an Adolescent Female With Anorexia Nervosa. 61
32291151 2020
35
Is it leukemia, doctor? No, it's scurvy induced by an ARFID! 61
32313189 2020
36
Cook's Endeavour, ship of discovery or ship of distemper: an assessment after 250 years. 61
32270624 2020
37
Further anthropological and pathological arguments related to St Louis' scurvy and infection signs on the Notre-Dame mandible (Paris, France). 61
31904525 2020
38
The mandible of Saint-Louis (1270 AD): Retrospective diagnosis and circumstances of death. 61
31185300 2020
39
Revisiting the pathobiology of scurvy: a review of the literature in the context of a challenging case. 61
32154584 2020
40
Now you C me: a case of scurvy presenting as depression and anaemia. 61
32139451 2020
41
Scurvy: Remember to obtain a dietary history in inflammatory "rheumatic" conditions. 61
32089175 2020
42
Concurrent beau lines, onychomadesis, and retronychia following scurvy. 61
32352431 2020
43
James Cook's first Pacific voyage: alleged scurvy-freedom unmasked. 61
32141201 2020
44
Scurvy Masquerading as Juvenile Idiopathic Arthritis or Vasculitis with Elevated Inflammatory Markers: A Case Series. 61
31843213 2020
45
The association between vitamin deficiency and otolaryngologic diseases: A therapeutic target. 61
31733530 2020
46
Synergistic effect of ascorbic acid and taurine in the treatment of a spinal cord injury-induced model in rats. 61
32002341 2020
47
Impact of Nutrition on Pulmonary Arterial Hypertension. 61
31936113 2020
48
Scurvy may occur even in children with no underlying risk factors: a case report. 61
31973768 2020
49
Old Era Continues in Modern World: A Case Report of Scurvy Induced Myopathy in Patient with Chronic Alcoholism. 61
32328106 2020
50
Do You C What I C: Emergency Department Evaluation and Diagnosis of Pediatric Scurvy in an Autistic Child With a Restricted Diet. 61
29369263 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 9.98 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 13)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.91 SLC2A14 SLC2A1 SLC23A3 SLC23A2 SLC23A1
2 cell redox homeostasis GO:0045454 9.67 PRDX4 P4HB ERO1B
3 oxidation-reduction process GO:0055114 9.56 TET1 PRDX4 P4HB MIOX HR ERO1B
4 glucose transmembrane transport GO:1904659 9.52 SLC2A14 SLC2A1
5 protein maturation by protein folding GO:0022417 9.48 PRDX4 ERO1B
6 positive regulation of proteolysis involved in cellular protein catabolic process GO:1903052 9.46 RGN CTSC
7 transepithelial L-ascorbic acid transport GO:0070904 9.43 SLC23A2 SLC23A1
8 peptidyl-proline hydroxylation to 4-hydroxy-L-proline GO:0018401 9.43 PRDX4 P4HB ERO1B
9 L-ascorbic acid biosynthetic process GO:0019853 9.4 RGN AKR1A1
10 L-ascorbic acid transmembrane transport GO:0015882 9.37 SLC23A2 SLC23A1
11 L-ascorbic acid metabolic process GO:0019852 9.33 SLC2A1 SLC23A2 SLC23A1
12 nucleobase transport GO:0015851 9.32 SLC23A2 SLC23A1
13 dehydroascorbic acid transport GO:0070837 8.8 SLC2A14 SLC2A1 SLC23A1

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 transporter activity GO:0005215 9.61 SLC23A3 SLC23A2 SLC23A1
2 transmembrane transporter activity GO:0022857 9.55 SLC2A14 SLC2A1 SLC23A3 SLC23A2 SLC23A1
3 antioxidant activity GO:0016209 9.51 PRDX4 ALB
4 oxidoreductase activity GO:0016491 9.5 TET1 PRDX4 MIOX HR ERO1B DBH
5 protein disulfide isomerase activity GO:0003756 9.49 P4HB ERO1B
6 glucose transmembrane transporter activity GO:0005355 9.48 SLC2A14 SLC2A1
7 aldo-keto reductase (NADP) activity GO:0004033 9.46 MIOX AKR1A1
8 sodium-dependent L-ascorbate transmembrane transporter activity GO:0070890 9.4 SLC23A2 SLC23A1
9 L-ascorbic acid transmembrane transporter activity GO:0015229 9.37 SLC23A2 SLC23A1
10 nucleobase transmembrane transporter activity GO:0015205 9.32 SLC23A2 SLC23A1
11 L-ascorbate:sodium symporter activity GO:0008520 9.26 SLC23A2 SLC23A1
12 dehydroascorbic acid transmembrane transporter activity GO:0033300 8.8 SLC2A14 SLC2A1 SLC23A1

Sources for Hypoascorbemia

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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