Hypoascorbemia disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: HYP781 MIFTS: 52	Hypoascorbemia Categories: Mental diseases, Metabolic diseases, Rare diseases, Skin diseases
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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:

MalaCards categories:
Global: Rare diseases Metabolic diseases
Anatomical: Skin diseases Mental diseases

See all MalaCards categories (disease lists)

ICD10: ³²

Endocrine, nutritional and metabolic diseases

Other nutritional deficiencies

Ascorbic acid deficiency

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

EFO ¹⁷ EFO_1001169

UMLS ⁷⁰ C0003969 C0036474

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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

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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
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:

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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

Sources

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

Atorvastatin

Approved

Phase 4

134523-00-5

60823

Morphine

Approved, Investigational

Phase 4

57-27-2

5288826

Ferrous fumarate

Approved

Phase 4

141-01-5

Nebivolol

Approved, Investigational

Phase 4

152520-56-4, 118457-14-0, 99200-09-6

71301

Metoprolol

Approved, Investigational

Phase 4

37350-58-6, 51384-51-1

4171

chloroquine

Approved, Investigational, Vet_approved

Phase 4

54-05-7

2719

Ferrous succinate

Approved

Phase 4

10030-90-7

Nitroglycerin

Approved, Investigational

Phase 4

55-63-0

4510

Bisacodyl

Approved

Phase 4

603-50-9

Pyrimethamine

Approved, Investigational, Vet_approved

Phase 4

58-14-0

4993

Sulfadoxine

Approved, Investigational

Phase 4

2447-57-6

17134

tannic acid

Approved

Phase 4

1401-55-4

Titanium dioxide

Approved

Phase 4

13463-67-7

Benzocaine

Approved, Investigational

Phase 4

1994-09-7, 94-09-7

2337

Ofloxacin

Approved

Phase 4

82419-36-1

4583

Oseltamivir

Approved

Phase 4

204255-11-8, 196618-13-0

65028

Levofloxacin

Approved, Investigational

Phase 4

100986-85-4

149096

Ceftaroline fosamil

Approved, Investigational

Phase 4

229016-73-3

Ceftriaxone

Approved

Phase 4

73384-59-5

5479530 5361919

Roxithromycin

Approved, Investigational, Withdrawn

Phase 4

80214-83-1

6915744 444037

Clarithromycin

Approved

Phase 4

81103-11-9

84029

Amoxicillin

Approved, Vet_approved

Phase 4

26787-78-0

33613

Heparin

Approved, Investigational

Phase 4

9005-49-6

772 9812414

Tazobactam

Approved

Phase 4

89786-04-9

123630

Clopidogrel

Approved

Phase 4

113665-84-2, 120202-66-6

60606

Dalteparin

Approved

Phase 4

9005-49-6

Moxifloxacin

Approved, Investigational

Phase 4

354812-41-2, 151096-09-2

152946

Piperacillin

Approved

Phase 4

66258-76-2

43672

Ticagrelor

Approved

Phase 4

274693-27-5

9871419

Simvastatin

Approved

Phase 4

79902-63-9

54454

Aspirin

Approved, Vet_approved

Phase 4

50-78-2

2244

Tinzaparin

Approved

Phase 4

9041-08-1, 9005-49-6

25244225

Apremilast

Approved, Investigational

Phase 4

608141-41-9

11561674

Interferon beta-1a

Approved, Investigational

Phase 4

145258-61-3

6438354

Selenium

Approved, Investigational, Vet_approved

Phase 4

7782-49-2

Methylcobalamin

Approved, Investigational

Phase 4

13422-55-4

Hydroxocobalamin

Approved

Phase 4

13422-51-0

11953898 15589840

Hyaluronic acid

Approved, Vet_approved

Phase 4

9004-61-9

53477741

Hydrocortisone

Approved, Vet_approved

Phase 4

50-23-7

5754

Hydrocortisone acetate

Approved, Vet_approved

Phase 4

50-03-3

Guaifenesin

Approved, Investigational, Vet_approved

Phase 4

93-14-1

3516

Phenylpropanolamine

Approved, Vet_approved, Withdrawn

Phase 4

14838-15-4

26934

Bacitracin

Approved, Vet_approved

Phase 4

1405-87-4

10909430 439542

Melatonin

Approved, Nutraceutical, Vet_approved

Phase 4

73-31-4

896

Riboflavin

Approved, Investigational, Nutraceutical, Vet_approved

Phase 4

83-88-5

493570

Cyanocobalamin

Approved, Nutraceutical

Phase 4

68-19-9

44176380

Pyridoxine

Approved, Investigational, Nutraceutical, Vet_approved

Phase 4

65-23-6

1054

Methionine

Approved, Nutraceutical

Phase 4

63-68-3

6137

Betaine

Approved, Nutraceutical

Phase 4

107-43-7, 6915-17-9

248

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

Sources

Genetic Tests for Hypoascorbemia

Sources

Anatomical Context for Hypoascorbemia

MalaCards organs/tissues related to Hypoascorbemia:

⁴⁰

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

Sources

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	Sotiriou S...Nussbaum RL	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	Kawai T...Yagi K	1400508	1992
3	Homo sapiens ascorbicus, a biochemically corrected robust human mutant. ⁶¹ ⁵⁷	Stone I	491997	1979
4	Immunologic evidence that the gene for L-gulono-gamma-lactone oxidase is not expressed in animals subject to scurvy. ⁵⁷ ⁶¹	Nishikimi M...Udenfriend S	819930	1976
5	The genetic disease, Hypoascorbemia. A fresh approach to an ancient disease and some of its medical implications. ⁵⁷ ⁶¹	Stone I	6063937	1967
6	New view at C. ⁵⁷	Hediger MA	11984580	2002
7	Vitamin C pharmacokinetics in healthy volunteers: evidence for a recommended dietary allowance. ⁵⁷	Levine M...Cantilena LR	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	Nishikimi M...Yagi K	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	Nishikimi M...Yagi K	1400507	1992
10	Occurrence in humans and guinea pigs of the gene related to their missing enzyme L-gulono-gamma-lactone oxidase. ⁵⁷	Nishikimi M...Yagi K	3214183	1988
11	New concepts in the biology and biochemistry of ascorbic acid. ⁵⁷	Levine M	3513016	1986
12	Evolution and the biosynthesis of ascorbic acid. ⁵⁷	Chatterjee IB	4752221	1973
13	Evolution and the need for ascorbic acid. ⁵⁷	Pauling L	5275366	1970
14	Non-Darwinian evolution. ⁵⁷	King JL...Jukes TH	5767777	1969
15	The influence of vitamin-C intake on blood glucose measurements in COVID-19 pandemic. ⁴²	Al-Obaidi ZMJ...Al-Rekabi MD	33690202	2021
16	Safety and effectiveness of high-dose vitamin C in patients with COVID-19: a randomized open-label clinical trial. ⁴²	JamaliMoghadamSiahkali S...Ghiasvand F	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	Thomas S...Desai MY	33576820	2021
18	Pediatric scurvy MRI appearance. ⁶¹	Ganske A...Hull N	33747331	2021
19	Ascorbic Acid Route to the Endoplasmic Reticulum: Function and Role in Disease. ⁶¹	Pozzer D...Zito E	31867990	2021
20	A review of the effectiveness of hibiscus for treatment of metabolic syndrome. ⁶¹	Jeffery TD...Richardson ML	33383111	2021
21	Ascorbic acid in the acute care setting. ⁶¹	Kressin C...Flannery AH	33675075	2021
22	Death in the Arctic - the tragic fate of members of the Franklin expedition (1845). ⁶¹	Byard RW	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	Yule S...Ziff M	33221247	2021
24	Scurvy in a Pediatric Patient With Autism and Limp: A Case Report. ⁶¹	Luckow C...Thomas AA	33109434	2021
25	Scurvy: hard to remember, easy to diagnose and treat. ⁶¹	Souza PRM...Rodrigues FE	33622632	2021
26	Scurvy preceded by hematuria and gait difficulties in two pediatric patients. ⁶¹	Murakami Y...Kodama K	33638223	2021
27	[Scurvy presenting with low-extremity necrotic and purpuric ulcers: Two cases]. ⁶¹	Guellich A...Mahe E	33203540	2021
28	Scurvy: a forgotten cause of purpuric rash. ⁶¹	Ward R...Natkunarajah J	33655521	2021
29	Modern Day Scurvy in Pediatric Orthopaedics: A Forgotten Illness. ⁶¹	Pan T...Hennrikus WL	33528119	2021
30	Scurvy-associated oral mucosal bleeding presenting as suspected haematemesis. ⁶¹	Hui S...Junckerstorff R	33738946	2021
31	Identifying Social Determinants of Health Leads to the Diagnoses of Scurvy in the Developed World. Case Report. ⁶¹	Pappan N...Petroccione R	33681707	2021
32	Scurvy, Starvation, and Flea Infestation - A Case Report From 21st Century Europe. ⁶¹	Esteves A...Laranjeira P	33728161	2021
33	"What can you C in a limping child?" Scurvy in an otherwise healthy "picky eater". ⁶¹	Diab Shehade K...Yeshayahu Y	33109452	2021
34	Bleeding tendency and ascorbic acid requirements: systematic review and meta-analysis of clinical trials. ⁶¹	Hujoel PP...Hujoel MLA	33517432	2021
35	Vitamin C-Sources, Physiological Role, Kinetics, Deficiency, Use, Toxicity, and Determination. ⁶¹	Dosedel M...On Behalf Of The Oemonom	33668681	2021
36	The cobbler's children have no shoes: scurvy in a farmer. ⁶¹	Villarreal-Paul G...Demelo-Rodriguez P	33393090	2021
37	A Bendable Biofuel Cell-Based Fully Integrated Biomedical Nanodevice for Point-of-Care Diagnosis of Scurvy. ⁶¹	Sun M...Zhou M	33356148	2021
38	Scurvy: A Rare Cause of Bone Marrow Edema. ⁶¹	Amar SK...Melath S	31868833	2021
39	Clinical Profile of Scurvy in Hamilton Since 2009: a Cohort Study. ⁶¹	Dadgar K...Neary J	31942674	2021
40	Dermatological Manifestations in Inflammatory Bowel Diseases. ⁶¹	Antonelli E...Maconi G	33477990	2021
41	A Case Report of a Modern-Day Scurvy. ⁶¹	Regehr J...Ofei-Dodoo S	33654545	2021
42	From blocked flows to suppressed emotions: the life of a trope. ⁶¹	Justman S	33303624	2020
43	Scurvy: A Disease not to be Forgotten. ⁶¹	Montalto M...Landolfi R	33368529	2020
44	The Scottish Scurvy Epidemic of 1847. ⁶¹	MacGillivray N	33469627	2020
45	Scurvy presenting as lower limb ecchymoses in the setting of metastatic colorectal cancer. ⁶¹	Inglis JM...Tan J	33370932	2020
46	Revisiting the pathobiology of scurvy: a review of the literature in the context of a challenging case. ⁶¹	Deirawan H...Moossavi M	32154584	2020
47	Keratosis pilaris with adjacent haemosiderin deposition: a clue to scurvy. ⁶¹	Tee JL...Strutton G	33317905	2020
48	Thiamine Deficiency as a Cause for Acute Circulatory Failure: An Overlooked Association in Western Countries. ⁶¹	Hayek A...Bochaton T	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	Cheudjeu A	32846167	2020
50	A multifunctional electrochemical sensor for the simultaneous detection of ascorbic acid, dopamine, uric acid, and nitrite. ⁶¹	Wang H...Wang X	33201187	2020

Sources

Genes for Hypoascorbemia

Genes related to Hypoascorbemia (1 elite genes):

(show all 18)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	GULOP	Gulonolactone (L-) Oxidase, Pseudogene	Pseudogene	507.33	Molecular basis known ⁵⁷ GeneCards inferred via : Summaries (show sections)
2	SLC23A2	Solute Carrier Family 23 Member 2	Protein Coding	8.51	DISEASES inferred ¹⁵
3	SLC23A1	Solute Carrier Family 23 Member 1	Protein Coding	8.28	DISEASES inferred ¹⁵
4	RGN	Regucalcin	Protein Coding	7.35	DISEASES inferred ¹⁵
5	GDPGP1	GDP-D-Glucose Phosphorylase 1	Protein Coding	7.04	DISEASES inferred ¹⁵
6	MIOX	Myo-Inositol Oxygenase	Protein Coding	5.8	DISEASES inferred ¹⁵
7	ERO1B	Endoplasmic Reticulum Oxidoreductase 1 Beta	Protein Coding	5.79	DISEASES inferred ¹⁵
8	TET1	Tet Methylcytosine Dioxygenase 1	Protein Coding	5.67	DISEASES inferred ¹⁵
9	AKR1A1	Aldo-Keto Reductase Family 1 Member A1	Protein Coding	5.66	DISEASES inferred ¹⁵
10	GPR33	G Protein-Coupled Receptor 33	Protein Coding	5.59	DISEASES inferred ¹⁵
11	PRDX4	Peroxiredoxin 4	Protein Coding	5.54	DISEASES inferred ¹⁵
12	SLC2A1	Solute Carrier Family 2 Member 1	Protein Coding	5.47	DISEASES inferred ¹⁵
13	SLC23A3	Solute Carrier Family 23 Member 3	Protein Coding	5.41	DISEASES inferred ¹⁵
14	ALB	Albumin	Protein Coding	5.39	DISEASES inferred ¹⁵
15	SLC2A14	Solute Carrier Family 2 Member 14	Protein Coding	5.28	DISEASES inferred ¹⁵
16	P4HB	Prolyl 4-Hydroxylase Subunit Beta	Protein Coding	5.27	DISEASES inferred ¹⁵
17	P3H2	Prolyl 3-Hydroxylase 2	Protein Coding	5.17	DISEASES inferred ¹⁵
18	SLC2A3	Solute Carrier Family 2 Member 3	Protein Coding	5.12	DISEASES inferred ¹⁵

Sources

Variations for Hypoascorbemia

Sources

Expression for Hypoascorbemia

Search GEO for disease gene expression data for Hypoascorbemia.

Sources

Pathways for Hypoascorbemia

Pathways related to Hypoascorbemia according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Metabolism ⁶⁵ Show member pathways Metabolic pathways ³⁶ Metabolism of lipids and lipoproteins ⁶⁵	13.72	SLC2A3 SLC2A14 SLC2A1 SLC23A2 SLC23A1 RGN
2	Metabolism of water-soluble vitamins and cofactors ⁶⁵ Show member pathways [2Fe-2S] iron-sulfur cluster biosynthesis ¹ Biotin transport and metabolism ⁶⁵ biotin-carboxyl carrier protein assembly ¹ coenzyme A biosynthesis ¹ Coenzyme A biosynthesis ⁶⁵ flavin biosynthesis ¹ folate polyglutamylation ¹ Metabolism of folate and pterines ⁶⁵ Metabolism of vitamins and cofactors ⁶⁵ molybdenum cofactor biosynthesis ¹ Molybdenum cofactor biosynthesis ⁶⁵ thiamin salvage III ¹ thio-molybdenum cofactor biosynthesis ¹ Vitamin B1 (thiamin) metabolism ⁶⁵ Vitamin B2 (riboflavin) metabolism ⁶⁵ Vitamin B5 (pantothenate) metabolism ⁶⁵ Vitamin C (ascorbate) metabolism ⁶⁵ Vitamins B6 activation to pyridoxal phosphate ⁶⁵	12.23	SLC2A3 SLC2A1 SLC23A2 SLC23A1
3	NRF2 pathway ¹	11.59	SLC2A3 SLC2A14 SLC2A1
4	Hexose transport ⁶⁵ Show member pathways Glucose transport ⁶⁵	11.13	SLC2A3 SLC2A14 SLC2A1
5	Photodynamic therapy-induced HIF-1 survival signaling ¹	10.97	SLC2A3 SLC2A1
6	Pentose and glucuronate interconversions ³⁶ Show member pathways Ascorbate and aldarate metabolism ³⁶ Catabolism of glucuronate to xylulose-5-phosphate ⁶⁵ D-glucuronate degradation ¹	10.65	RGN MIOX AKR1A1
7	Prostaglandin 2 biosynthesis and metabolism FM ²³	10.52	PRDX4 AKR1A1

Sources

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

Sources for Hypoascorbemia

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Apr-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

Hypoascorbemia

Aliases & Classifications for Hypoascorbemia

MalaCards integrated aliases for Hypoascorbemia:

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Hypoascorbemia

Related Diseases for Hypoascorbemia

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

Graphical network of the top 20 diseases related to Hypoascorbemia:

Symptoms & Phenotypes for Hypoascorbemia

Human phenotypes related to Hypoascorbemia:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Symptoms:

MGI Mouse Phenotypes related to Hypoascorbemia:

Drugs & Therapeutics for Hypoascorbemia

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

Interventional clinical trials:

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

Cochrane evidence based reviews: scurvy

Genetic Tests for Hypoascorbemia

Anatomical Context for Hypoascorbemia

MalaCards organs/tissues related to Hypoascorbemia:

Publications for Hypoascorbemia

Articles related to Hypoascorbemia:

Genes for Hypoascorbemia

Genes related to Hypoascorbemia (1 elite genes):

Variations for Hypoascorbemia

Expression for Hypoascorbemia

Pathways for Hypoascorbemia

Pathways related to Hypoascorbemia according to GeneCards Suite gene sharing:

GO Terms for Hypoascorbemia

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

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

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

Sources for Hypoascorbemia

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