MCID: HYP781
MIFTS: 48

Hypoascorbemia

Categories: Metabolic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Hypoascorbemia

MalaCards integrated aliases for Hypoascorbemia:

Name: Hypoascorbemia 57 53
Scurvy 57 12 76 53 13 44 15 73
Vitamin C Deficiency 53 37
Vitamin C, Inability to Synthesize 57
Ascorbic Acid Deficiency 73
Deficiency of Vitamin C 53
Scorbutus 53
Vitamin C 43

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
hypoascorbemia:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 240400
Disease Ontology 12 DOID:13724
ICD10 33 E54
MeSH 44 D012614
NCIt 50 C35010
SNOMED-CT 68 76169001
MedGen 42 C0036474
KEGG 37 H01580
SNOMED-CT via HPO 69 258211005

Summaries for Hypoascorbemia

NIH Rare Diseases : 53 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.

MalaCards based summary : Hypoascorbemia, also known as scurvy, is related to iron-refractory iron deficiency anemia and osmotic diarrhea. An important gene associated with Hypoascorbemia is GULOP (Gulonolactone (L-) Oxidase, Pseudogene). The drugs Acetylcholine and Ergocalciferol have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and myeloid, and related phenotypes are abnormality of metabolism/homeostasis and Negative genetic interaction between KRASG13D/+ and KRAS+/-

MedlinePlus : 43 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 : 76 Scurvy is a disease resulting from a lack of vitamin C (ascorbic acid). Early symptoms include weakness,... more...

Description 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 328)
# Related Disease Score Top Affiliating Genes
1 iron-refractory iron deficiency anemia 11.2
2 osmotic diarrhea 11.0
3 hematohidrosis 11.0
4 rickets 10.4
5 purpura 10.2
6 pellagra 10.2
7 osteoporosis 10.1
8 autism 10.1
9 kwashiorkor 10.1
10 megaloblastic anemia 10.1
11 hemarthrosis 10.1
12 vasculitis 10.1
13 autism spectrum disorder 10.0
14 schizophrenia 10.0
15 anorexia nervosa 10.0
16 malaria 10.0
17 cerebral palsy 10.0
18 thalassemia 10.0
19 siderosis 10.0
20 peritonitis 10.0
21 pre-eclampsia 9.9
22 melanoma 9.9
23 ischemia 9.9
24 gastritis 9.9
25 werner syndrome 9.9
26 preterm premature rupture of the membranes 9.9
27 diabetes mellitus 9.9
28 eclampsia 9.9
29 periodontitis 9.9
30 postherpetic neuralgia 9.9
31 obsessive-compulsive disorder 9.9
32 rheumatic fever-related antigen 9.9
33 beta-thalassemia 9.9
34 deficiency anemia 9.9
35 pulmonary hypertension 9.9
36 arthritis 9.9
37 osteomyelitis 9.9
38 typhoid fever 9.9
39 panniculitis 9.9
40 rheumatic fever 9.9
41 iron metabolism disease 9.9
42 periodontal disease 9.9
43 plague 9.9
44 syphilis 9.9
45 exophthalmos 9.9
46 congenital syphilis 9.9
47 depression 9.9
48 encephalopathy 9.9
49 shaken baby syndrome 9.9
50 breast cancer 9.9

Graphical network of the top 20 diseases related to Hypoascorbemia:



Diseases related to Hypoascorbemia

Symptoms & Phenotypes for Hypoascorbemia

Symptoms via clinical synopsis from OMIM:

57
Laboratory Abnormalities:
hypoascorbemia
l-gulonolactone oxidase deficiency


Clinical features from OMIM:

240400

Human phenotypes related to Hypoascorbemia:

32
# Description HPO Frequency HPO Source Accession
1 abnormality of metabolism/homeostasis 32 HP:0001939

GenomeRNAi Phenotypes related to Hypoascorbemia according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Negative genetic interaction between KRASG13D/+ and KRAS+/- GR00255-A-5 8.92 CEP170 CHRDL1 NLRC4 SLC23A2

Drugs & Therapeutics for Hypoascorbemia

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

(show all 29)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved Phase 2 51-84-3 187
2
Ergocalciferol Approved, Nutraceutical Phase 2 50-14-6 5280793
3
Vitamin C Approved, Nutraceutical Phase 2,Phase 1,Not Applicable 50-81-7 5785 54670067
4
Vitamin D Approved, Nutraceutical, Vet_approved Phase 2 1406-16-2
5
Vitamin D3 Approved, Nutraceutical Phase 2 67-97-0 5280795 6221
6
Thiamine Approved, Investigational, Nutraceutical, Vet_approved Phase 2 59-43-8, 70-16-6 1130
7
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
8 Micronutrients Phase 2,Phase 1,Not Applicable
9 Bone Density Conservation Agents Phase 2
10 Antioxidants Phase 2,Phase 1,Not Applicable
11 Calciferol Phase 2
12 Vitamins Phase 2,Phase 1,Not Applicable
13 Vitamin D2 Phase 2
14 Protective Agents Phase 2,Phase 1,Not Applicable
15 Trace Elements Phase 2,Phase 1,Not Applicable
16 Ergocalciferols Phase 2
17 Insulin, Globin Zinc Phase 2
18 Vasodilator Agents Phase 2
19 Cholinergic Agents Phase 2
20 insulin Phase 2
21 Neurotransmitter Agents Phase 2
22 Folate Phase 2
23 Vitamin B9 Phase 2
24 Thiamin Phase 2
25 Vitamin B Complex Phase 2
26
Ethanol Approved 64-17-5 702
27 Anti-Infective Agents
28 Anti-Infective Agents, Local
29 Central Nervous System Depressants

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 Vitamin Deficiency and Blood Pressure in Hospitalized Jewish General Hospital (JGH) Patients Completed NCT00921622 Phase 2
2 Study of the Effects of Vitamin C on Patients With Type 2 Diabetes Completed NCT00001870 Phase 2 Acetylcholine
3 Vitamin Therapy in JGH Patients Completed NCT01630720 Phase 2
4 The Effect of Vitamin C on Quality of Life of Terminal Cancer Patients Not yet recruiting NCT03224572 Phase 1, Phase 2 high-dose vitamin C 30gm
5 Vitamin C in Post-cardiac Arrest Not yet recruiting NCT03509662 Phase 2 Vitamin C;Thiamine;Placebos
6 L-Ascorbic Acid Depletion to Treat Acute Myeloid Leukemia and Myelodysplastic Syndromes Suspended NCT00329498 Phase 2 L-Ascorbic Acid
7 "Novo C Plus" Vitamin C Containing Dietary Supplement Bioavailability in Healthy Subjects Completed NCT02606773 Phase 1 Ascorbic Acid
8 Alcohol Abuse or Alcohol Withdrawal: Risk of Latent Scurvy Completed NCT03467022 Vitamin C
9 A Long-term Study to Describe the Use of PASCORBIN® 7.5 g in Patients With Vitamin C Deficiency Recruiting NCT02422901 vitamin C
10 Epigenetics, Vitamin C, and Abnormal Blood Cell Formation - Vitamin C in Patients With Low-Risk Myeloid Malignancies Recruiting NCT03682029 Not Applicable
11 Study of Prevalence and Risk Factors of Hypovitaminosis C in Long Term Care Unit Not yet recruiting NCT03807791 Not Applicable

Search NIH Clinical Center for Hypoascorbemia

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Cochrane evidence based reviews: scurvy

Genetic Tests for Hypoascorbemia

Anatomical Context for Hypoascorbemia

MalaCards organs/tissues related to Hypoascorbemia:

41
Skin, Bone, Myeloid, Liver, Thyroid, Heart, Brain

Publications for Hypoascorbemia

Articles related to Hypoascorbemia:

(show top 50) (show all 498)
# Title Authors Year
1
Dietary Vitamin C Deficiency Is Associated With Health-Related Quality of Life and Cardiac Event-free Survival in Adults With Heart Failure. ( 30211815 )
2019
2
Scurvy due to restrictive diet in a child with autism spectrum disorder: case report. ( 30204999 )
2018
3
Lessons in early identification and treatment from a case of disabling vitamin C deficiency in a child with autism spectrum disorder. ( 30079810 )
2018
4
Scurvy: A rare cause for limp in a child with autism spectrum disorder. ( 29947447 )
2018
5
EXPRESS: Cardiac Arrest and Pulmonary Hypertension in Scurvy. ( 30351242 )
2018
6
Photoexposed skin, skin ageing, Bateman's purpura and local vitamin C deficiency. ( 29633407 )
2018
7
Scurvy as cause of purpura in the XXI century: a review on this "ancient" disease. ( 30024630 )
2018
8
Scurvy: still a threat in the well-fed first world? ( 30087152 )
2018
9
Corrigendum to Ravindran P, Wiltshire S, Das K, Wilson RB. Vitamin C deficiency in an Australian cohort of metropolitan surgical patients. Pathology 2018; 50: 654-8. ( 30502922 )
2018
10
A classic case of scurvy. ( 30102175 )
2018
11
Juvenile scurvy from Late Medieval Knin, Croatia. ( 30236856 )
2018
12
Scurvy: a rare case in an adult. ( 30259130 )
2018
13
Macroscopic features of scurvy in human skeletal remains: A literature synthesis and diagnostic guide. ( 30298514 )
2018
14
Scurvy: an unusual complication of paediatric cancer treatment. ( 30374635 )
2018
15
Scurvy in a hemodialysis patient. Rare or ignored? ( 30411462 )
2018
16
Scurvy-Characteristic Features and Forensic Issues. ( 30422823 )
2018
17
Outbreak of scurvy in Tana River County, Kenya: A case report. ( 30456974 )
2018
18
Florid Scurvy in an Autistic Child on a Ketogenic Diet. ( 30461672 )
2018
19
Scurvy is Back. ( 30479485 )
2018
20
Johann Bachoven von Echt (1515-1576) and his work on scurvy: An omen of Vesalius' death? ( 30488702 )
2018
21
Scurvy in a 3-year-old autistic girl: Whole-body magnetic resonance imaging findings. ( 28647479 )
2018
22
Scurvy, a Not-So-Ancient Disease. ( 29274306 )
2018
23
Do You C What I C: Emergency Department Evaluation and Diagnosis of Pediatric Scurvy in an Autistic Child With a Restricted Diet. ( 29369263 )
2018
24
Doctor-your septic patients have scurvy! ( 29378661 )
2018
25
Comment upon "Basilar portion porosity: A pathological lesion possibly associated with infantile scurvy". ( 29496209 )
2018
26
Response to González et al.'s comment upon "Basilar portion porosity: A pathological lesion possibly associated with infantile scurvy". ( 29496210 )
2018
27
Adult scurvy associated with psychiatric disorders and breast feeding. ( 29602889 )
2018
28
Gingival Enlargement Caused by Vitamin C Deficiency (Scurvy) in a Boy. ( 29663975 )
2018
29
Scurvy in 2017 in the USA. ( 29706829 )
2018
30
Pediatric Scurvy: When Contemporary Eating Habits Bring Back the Past. ( 29780794 )
2018
31
Scurvy: Dietary Discretion in a Developed Country. ( 29849264 )
2018
32
Bruising in a Depressed Patient: Self-Inflicted or Adverse Effect of Antidepressants?: An Unexpected Cause: Scurvy. ( 29912801 )
2018
33
Scurvy and embryo culture. ( 29935658 )
2018
34
Anemia in Scurvy. ( 30054882 )
2018
35
Nonalimental Scurvy With Relapse Symptoms After Stopping Oral Vitamin C Supplementation. ( 30065004 )
2018
36
Scurvy: A rare cause of arthritis in a child with neurologic disorder. ( 30071935 )
2018
37
Hypovitaminosis C and vitamin C deficiency in critically ill patients despite recommended enteral and parenteral intakes. ( 29228951 )
2017
38
Modern American scurvy - experience with vitamin C deficiency at a large children's hospital. ( 27778040 )
2017
39
Paleopathological rigor and differential diagnosis: Case studies involving terminology, description, and diagnostic frameworks for scurvy in skeletal remains. ( 29198404 )
2017
40
Scurvy: When it is a Forgotten Illness the Surgery Makes the Diagnosis. ( 29290869 )
2017
41
Latent scurvy with tiredness and leg pain in alcoholics: An underestimated disease three case reports. ( 29382002 )
2017
42
An Unexpected Case of Scurvy in a Peritoneal Dialysis Patient. ( 29594144 )
2017
43
Dietary vitamin C deficiency depressed the gill physical barriers and immune barriers referring to Nrf2, apoptosis, MLCK, NF-I_B and TOR signaling in grass carp (Ctenopharyngodon idella) under infection of Flavobacterium columnare. ( 27640333 )
2016
44
Approaches to co-occurrence: Scurvy and rickets in infants and young children of 16-18th century Douai, France. ( 29539522 )
2016
45
First probable case of scurvy in ancient Egypt at Nag el-Qarmila, Aswan. ( 29539504 )
2016
46
Possible scurvy in the prisoners of Old Quebec: A re-evaluation of evidence in adult skeletal remains. ( 29539559 )
2016
47
Pharmacology in a Cup of Coffee The Virtue of Coffee and Vitamins Learned from the History of Scurvy and Dropsy. ( 30182708 )
2016
48
Hypoascorbemia induces atherosclerosis and vascular deposition of lipoprotein(a) in transgenic mice. ( 26064792 )
2015
49
Rheumatic manifestations of scurvy. ( 25854491 )
2015
50
Scurvy in a patient on vemurafenib. ( 27075135 )
2015

Variations for Hypoascorbemia

Expression for Hypoascorbemia

Search GEO for disease gene expression data for Hypoascorbemia.

Pathways for Hypoascorbemia

GO Terms for Hypoascorbemia

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

# Name GO ID Score Top Affiliating Genes
1 basal plasma membrane GO:0009925 8.62 SLC23A1 SLC23A2

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

# Name GO ID Score Top Affiliating Genes
1 sodium ion transport GO:0006814 9.4 SLC23A1 SLC23A2
2 response to oxidative stress GO:0006979 9.37 PRDX4 SLC23A2
3 nucleobase-containing compound metabolic process GO:0006139 9.32 SLC23A1 SLC23A2
4 L-ascorbic acid metabolic process GO:0019852 9.26 SLC23A1 SLC23A2
5 L-ascorbic acid transmembrane transport GO:0015882 9.16 SLC23A1 SLC23A2
6 nucleobase transport GO:0015851 8.96 SLC23A1 SLC23A2
7 transepithelial L-ascorbic acid transport GO:0070904 8.62 SLC23A1 SLC23A2

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

# Name GO ID Score Top Affiliating Genes
1 transmembrane transporter activity GO:0022857 9.37 SLC23A1 SLC23A2
2 symporter activity GO:0015293 9.32 SLC23A1 SLC23A2
3 L-ascorbate:sodium symporter activity GO:0008520 9.26 SLC23A1 SLC23A2
4 L-ascorbic acid transmembrane transporter activity GO:0015229 9.16 SLC23A1 SLC23A2
5 nucleobase transmembrane transporter activity GO:0015205 8.96 SLC23A1 SLC23A2
6 sodium-dependent L-ascorbate transmembrane transporter activity GO:0070890 8.62 SLC23A1 SLC23A2

Sources for Hypoascorbemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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