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



autosomal recessive

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


Inheritance autosomal recessive inheritance


External Ids:

Disease Ontology 12 DOID:13724
OMIM 56 240400
KEGG 36 H01580
MeSH 43 D012614
NCIt 49 C35010
SNOMED-CT 67 76169001
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 are Prostaglandin 2 biosynthesis and metabolism FM and Cytosine methylation. The drugs Aspirin and Tramadol have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and lung, and related phenotype is abnormality of metabolism/homeostasis.

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

Graphical network of the top 20 diseases related to Hypoascorbemia:

Diseases related to Hypoascorbemia

Symptoms & Phenotypes for Hypoascorbemia

Human phenotypes related to Hypoascorbemia:

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

Symptoms via clinical synopsis from OMIM:

Laboratory Abnormalities:
l-gulonolactone oxidase deficiency

Clinical features from OMIM:



  • fatigue

Drugs & Therapeutics for Hypoascorbemia

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

(show top 50) (show all 518)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
Tramadol Approved, Investigational Phase 4 27203-92-5 33741
Meperidine Approved Phase 4 57-42-1 4058
Iron Approved, Experimental Phase 4 7439-89-6, 15438-31-0 23925 27284
Zinc Approved, Investigational Phase 4 7440-66-6 32051
tannic acid Approved Phase 4 1401-55-4
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
Selenium Approved, Investigational, Vet_approved Phase 4 7782-49-2
Copper Approved, Investigational Phase 4 7440-50-8 27099
Ferrous succinate Approved Phase 4 10030-90-7
Ferrous fumarate Approved Phase 4 141-01-5
Nicotinamide Approved, Investigational Phase 4 98-92-0 936
Iodine Approved, Investigational Phase 4 7553-56-2 807
Ketoprofen Approved, Vet_approved Phase 4 22071-15-4 3825
Nebivolol Approved, Investigational Phase 4 152520-56-4, 118457-14-0, 99200-09-6 71301
Metoprolol Approved, Investigational Phase 4 51384-51-1, 37350-58-6 4171
Bisacodyl Approved Phase 4 603-50-9
chloroquine Approved, Investigational, Vet_approved Phase 4 54-05-7 2719
Sulfadoxine Approved, Investigational Phase 4 2447-57-6 17134
Pyrimethamine Approved, Investigational, Vet_approved Phase 4 58-14-0 4993
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
Morphine Approved, Investigational Phase 4 57-27-2 5288826
Pentoxifylline Approved, Investigational Phase 4 6493-05-6 4740
Methenamine Approved, Vet_approved Phase 4 100-97-0 4101
Trimethoprim Approved, Vet_approved Phase 4 738-70-5 5578
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741
Hydrocortisone acetate Approved, Vet_approved Phase 4 50-03-3
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 5754
Bacitracin Approved, Vet_approved Phase 4 1405-87-4 439542 10909430
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 68-26-8, 11103-57-4, 22737-96-8 445354 9904001
Niacin Approved, Investigational, Nutraceutical Phase 4 59-67-6 938
Riboflavin Approved, Investigational, Nutraceutical, Vet_approved Phase 4 83-88-5 493570
Melatonin Approved, Nutraceutical, Vet_approved Phase 4 73-31-4 896
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
Thiamine Approved, Investigational, Nutraceutical, Vet_approved Phase 4 70-16-6, 59-43-8 1130
Uric acid Investigational Phase 4 69-93-2 1175
Bradykinin Investigational Phase 4 58-82-2 439201
38 Fibrinolytic Agents Phase 4
39 Narcotics Phase 4
40 Adjuvants, Anesthesia Phase 4
41 Anti-Infective Agents Phase 4
42 Epoetin alfa Phase 4 113427-24-0
43 retinol Phase 4
44 Retinol palmitate Phase 4
45 Anti-Arrhythmia Agents Phase 4
46 Rose Hips Phase 4
47 Analgesics, Opioid Phase 4
48 Cola Phase 4
49 Vitamin B3 Phase 4
50 Nicotinic Acids Phase 4

Interventional clinical trials:

(show top 50) (show all 604)
# 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 Effect of Oral Vitamin C on The Inflammatory Biomarkers in Hemodialysis Completed NCT01356433 Phase 4 oral vitamin C;oral vitamin C
11 Pharmacokinetics of Two Different High-dose Regimens of Intravenous Vitamin C in Critically Ill Patients Completed NCT02455180 Phase 4 Ascorbic Acid
12 Assessment of the Effect of Vitamin C on Anemia in Patients With Continuous Ambulatory Peritoneal Dialysi Completed NCT02780505 Phase 4 vitamin c;placebo
13 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
14 Phase 4 Study of High Dose Vitamin C in Chronic Hepatitis Patients Completed NCT01413360 Phase 4 High dose vitamin C
15 Iron Bioavailability Study Of Fortified Oat Drink Completed NCT01423162 Phase 4
16 Cognitive and Cerebral Blood Flow Effects of Vitamin C Completed NCT01055418 Phase 4
17 Double-Blind, Randomized Study of High Dose Vitamin C On Outcome in Cardiac Surgery Patients Completed NCT01167569 Phase 4 Ascorbic Acid
18 Effects of Vitamin C and E on Endothelial Function in Adolescent Diabetes Completed NCT02019186 Phase 4
19 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
20 Improving Gait in Persons With Knee Related Mobility Limitations by Rosenoids® Food Supplement: a Randomized Double-blind Placebo-controlled Trial Completed NCT01927848 Phase 4
21 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
22 Effect of Low Doses of Vitamin C on Salivary Cortisol , Heart Rate , Blood Pressure During Group Presentation Completed NCT04135378 Phase 4 ascorbic acid
23 Physiological Effects of Gestational Diabetes on the Placenta and Neonatal Outcome; Role of Antioxidant Administration Completed NCT02355197 Phase 4 L-ascorbic acid
24 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
25 Ascorbic Acid Versus Diode Laser in the Treatment of Gingival Hyperpigmentation: Histological and Clinical Randomized Study Completed NCT03252418 Phase 4 Ascorbic Acid 500 MG
26 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
27 Nebivolol and Endothelial Regulation of Fibrinolysis Completed NCT01595516 Phase 4 Nebivolol;Metoprolol;Placebo
28 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
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 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
31 FLIPS: Ferfer Liposomal Iron Performance Study Completed NCT03112187 Phase 4 Iron Supplement
32 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
33 Prevention of Intrauterine Growth Retardation in Hounde District, Burkina Faso: the Malaria Component Completed NCT00680732 Phase 4 Chloroquine (CQ);Sulphadoxyne-pyrimethamine (SP)
34 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
35 Effect of Prenatal Nutritional Supplementation on Birth Outcome in Hounde District, Burkina Faso Completed NCT00909974 Phase 4
36 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
37 Prevention of Intrauterine Growth Retardation in Hounde District, Burkina Faso Completed NCT00642408 Phase 4
38 A Comparative Randomized Controlled Study of Arginine Free Immunoenhancing Diet and Isocaloric, Isonitrogenous Formula in Critically Ill Patients Completed NCT01713257 Phase 4
39 Prospective Double-Blind Randomized Controlled Clinical Trial in the Gingivitis Prevention With an Oligomeric Proanthocyanidins Nutritional Supplement Completed NCT02515929 Phase 4
40 Comparison Of The Effects Of Preoperative Melatonin Or Vitamin C Administration On Postoperative Analgesia Recruiting NCT02639741 Phase 4 Melatonin;Vitamin C
41 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
42 Hyperoxia and Antioxidants During Major Non-cardiac Surgery and Risk of Cardiovascular Complications, a Blinded 2x2 Factorial Randomised Clinical Trial Recruiting NCT03494387 Phase 4 Oxygen;Antioxidants
43 Oxidative Stress In Semen And Male Infertility Recruiting NCT03464656 Phase 4 Fairhaven Pro for men
44 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
45 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
46 Methenamine Hippurate Versus Trimethoprim in the Prevention of Recurrent UTIs Active, not recruiting NCT03077711 Phase 4 Trimethoprim;Methenamine hippurate
47 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
48 Effects of Glucocorticoid Combined With Vitamin C and Vitamin B1 on Microcirculation in Severe Septic Shock Not yet recruiting NCT03821714 Phase 4 Glucocorticoid combination therapy;Glucocorticoid
49 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
50 The Effect of Ferric Carboximaltose on Intra-myocardial Iron Load Assessed by Cardiac Magnetic Resonance in Patients With Heart Failure With Reduced Ejection Fraction (HFREF). Not yet recruiting NCT03871699 Phase 4 Ferric carboxymaltose

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:

Skin, Bone, Lung, Endothelial, Liver, Heart, Thyroid

Publications for Hypoascorbemia

Articles related to Hypoascorbemia:

(show top 50) (show all 1731)
# Title Authors PMID Year
Ascorbic-acid transporter Slc23a1 is essential for vitamin C transport into the brain and for perinatal survival. 61 56
11984597 2002
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
Homo sapiens ascorbicus, a biochemically corrected robust human mutant. 61 56
491997 1979
Immunologic evidence that the gene for L-gulono-gamma-lactone oxidase is not expressed in animals subject to scurvy. 61 56
819930 1976
The genetic disease, Hypoascorbemia. A fresh approach to an ancient disease and some of its medical implications. 61 56
6063937 1967
New view at C. 56
11984580 2002
Vitamin C pharmacokinetics in healthy volunteers: evidence for a recommended dietary allowance. 56
8623000 1996
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
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
Occurrence in humans and guinea pigs of the gene related to their missing enzyme L-gulono-gamma-lactone oxidase. 56
3214183 1988
New concepts in the biology and biochemistry of ascorbic acid. 56
3513016 1986
Evolution and the biosynthesis of ascorbic acid. 56
4752221 1973
Evolution and the need for ascorbic acid. 56
5275366 1970
Non-Darwinian evolution. 56
5767777 1969
Effect of Vitamin C Infusion on Organ Failure and Biomarkers of Inflammation and Vascular Injury in Patients With Sepsis and Severe Acute Respiratory Failure: The CITRIS-ALI Randomized Clinical Trial. 42
31573637 2019
Should vitamin C routinely be given with oral iron supplements? 42
31103326 2019
Vitamin C for Pregnant Smokers to Improve Infant Lung Function. An Orange a Day Keeps the Respirologist Away? 42
30522341 2019
The association between vitamin deficiency and otolaryngologic diseases: A therapeutic target. 61
31733530 2020
Synergistic effect of ascorbic acid and taurine in the treatment of a spinal cord injury-induced model in rats. 61
32002341 2020
Eighteenth Century Complications With 21st Century General Anesthesia: A Case Report of Scurvy. 61
31850908 2020
Scurvy may occur even in children with no underlying risk factors: a case report. 61
31973768 2020
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
Impact of Nutrition on Pulmonary Arterial Hypertension. 61
31936113 2020
Modern-day scurvy. 61
31988154 2020
Clinical Profile of Scurvy in Hamilton Since 2009: a Cohort Study. 61
31942674 2020
No longer a historical ailment: two cases of childhood scurvy with recommendations for bone health providers. 61
31901946 2020
Further anthropological and pathological arguments related to St Louis' scurvy and infection signs on the Notre-Dame mandible (Paris, France). 61
31904525 2020
Chapter 6: Vitamins and Oral Health. 61
31940621 2020
Ascorbic Acid Route to the Endoplasmic Reticulum: Function and Role in Disease. 61
31867990 2020
A Review of Micronutrients and the Immune System-Working in Harmony to Reduce the Risk of Infection. 61
31963293 2020
[Bloody tears: About a case and a review of the literature]. 61
31882188 2019
Scurvy: An Unrecognized and Emerging Public Health Issue in Developed Economies. 61
31806112 2019
Scurvy: A Rare Cause of Bone Marrow Edema. 61
31868833 2019
Scurvy Masquerading as Juvenile Idiopathic Arthritis or Vasculitis with Elevated Inflammatory Markers: A Case Series. 61
31843213 2019
Hematopoietic findings in a patient with scurvy. 61
31856275 2019
[Cutaneous manifestations of nutritional deficiencies]. 61
31746568 2019
Images of the month 1: 'The scurvy' - diagnosis by gestalt. 61
31732599 2019
The discovery of beri-beri and scurvy vitamins - two hundred and two years from its discovery. 61
31066645 2019
Pulmonary Hypertensive Crisis During General Anesthesia in a 3-Year-Old Autistic Boy With Undiagnosed Scurvy, Undergoing Cardiac Catheterization: A Case Report. 61
31567273 2019
Immunomodulatory and Antimicrobial Effects of Vitamin C. 61
31662885 2019
Basal Sodium-Dependent Vitamin C Transporter 2 polarization in choroid plexus explant cells in normal or scorbutic conditions. 61
31594969 2019
Cases of endocranial lesions on juvenile skeletons from Longshan cultural sites in Henan Province, China. 61
31252199 2019
Scurvy Due to Selective Diet in a Seemingly Healthy 4-Year-Old Boy. 61
31413181 2019
Increases in Acute Phase Reactants in a Patient with Scurvy Despite No Inflammation: Review of Literature. 61
31700721 2019
Scurvy: a rare cause of arthralgia in a young woman. 61
31507047 2019
Scurvy presenting as pseudo-scleroderma of the leg. 61
31517009 2019
Scurvy: A Rare Cause of Anemia. 61
31720162 2019
Severe scurvy in a patient with eosinophilicoesophagitis. 61
31451474 2019
Childhood Scurvy: A Nearly Extinct Disease Posing a New Diagnostic Challenge, a Case Report. 61
31504984 2019
Response to "Severe scurvy in an adult male without clear risk factors for nutritional deficiency". 61
31388535 2019

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 10.32 PRDX4 AKR1A1
Show member pathways
9.74 TET3 TET1

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 9.46 SLC2A1 SLC23A2 SLC23A1 AKR1A1
2 endoplasmic reticulum lumen GO:0005788 9.26 P4HB P4HA3 CTSC ALB
3 female pronucleus GO:0001939 8.62 TET3 SLC2A1

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.91 SLC2A14 SLC2A1 SLC23A3 SLC23A2 SLC23A1
2 oxidation-reduction process GO:0055114 9.56 TET3 TET1 PRDX4 P4HB P4HA3 MIOX
3 glucose transmembrane transport GO:1904659 9.54 SLC2A14 SLC2A1
4 DNA demethylation GO:0080111 9.52 TET3 TET1
5 oxidative demethylation GO:0070989 9.49 TET3 TET1
6 peptidyl-proline hydroxylation to 4-hydroxy-L-proline GO:0018401 9.48 P4HB P4HA3
7 positive regulation of proteolysis involved in cellular protein catabolic process GO:1903052 9.46 RGN CTSC
8 5-methylcytosine catabolic process GO:0006211 9.43 TET3 TET1
9 transepithelial L-ascorbic acid transport GO:0070904 9.4 SLC23A2 SLC23A1
10 L-ascorbic acid biosynthetic process GO:0019853 9.37 RGN AKR1A1
11 L-ascorbic acid metabolic process GO:0019852 9.33 SLC2A1 SLC23A2 SLC23A1
12 L-ascorbic acid transmembrane transport GO:0015882 9.32 SLC23A2 SLC23A1
13 nucleobase transport GO:0015851 9.26 SLC23A2 SLC23A1
14 dehydroascorbic acid transport GO:0070837 8.8 SLC2A14 SLC2A1 SLC23A1

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 iron ion binding GO:0005506 9.78 TET3 TET1 P4HA3 MIOX
2 oxidoreductase activity GO:0016491 9.7 TET3 TET1 PRDX4 P4HA3 MIOX HR
3 transmembrane transporter activity GO:0022857 9.65 SLC2A14 SLC2A1 SLC23A3 SLC23A2 SLC23A1
4 dioxygenase activity GO:0051213 9.62 TET3 TET1 P4HB P4HA3
5 antioxidant activity GO:0016209 9.55 PRDX4 ALB
6 glucose transmembrane transporter activity GO:0005355 9.54 SLC2A14 SLC2A1
7 aldo-keto reductase (NADP) activity GO:0004033 9.52 MIOX AKR1A1
8 procollagen-proline 4-dioxygenase activity GO:0004656 9.51 P4HB P4HA3
9 methylcytosine dioxygenase activity GO:0070579 9.49 TET3 TET1
10 sodium-dependent L-ascorbate transmembrane transporter activity GO:0070890 9.46 SLC23A2 SLC23A1
11 L-ascorbic acid transmembrane transporter activity GO:0015229 9.43 SLC23A2 SLC23A1
12 nucleobase transmembrane transporter activity GO:0015205 9.4 SLC23A2 SLC23A1
13 L-ascorbate:sodium symporter activity GO:0008520 9.37 SLC23A2 SLC23A1
14 transporter activity GO:0005215 9.26 SLC2A1 SLC23A3 SLC23A2 SLC23A1
15 dehydroascorbic acid transmembrane transporter activity GO:0033300 8.8 SLC2A14 SLC2A1 SLC23A1

Sources for Hypoascorbemia

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
54 Novoseek
57 OMIM via Orphanet
61 PubMed
70 Tocris
72 UMLS via Orphanet
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