MCID: HYP781
MIFTS: 42

Hypoascorbemia

Categories: Rare diseases, Metabolic 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
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 purpura and pellagra. 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 73)
# Related Disease Score Top Affiliating Genes
1 purpura 11.3
2 pellagra 10.0
3 hepatitis 10.0
4 megaloblastic anemia 9.9
5 hemarthrosis 9.9
6 vasculitis 9.9
7 kwashiorkor 9.9
8 osteoporosis 9.9
9 autism 9.9
10 rickets 9.9
11 gingivitis 9.9
12 aging 9.8
13 anorexia nervosa 9.8
14 cerebral palsy 9.8
15 thalassemia 9.8
16 siderosis 9.8
17 cerebritis 9.8
18 peritonitis 9.8
19 obsessive-compulsive disorder 9.7
20 schizophrenia 9.7
21 beta-thalassemia 9.7
22 autism spectrum disorder 9.7
23 osteomyelitis 9.7
24 panniculitis 9.7
25 iron metabolism disease 9.7
26 periodontal disease 9.7
27 retinitis 9.7
28 periodontitis 9.7
29 depression 9.7
30 encephalopathy 9.7
31 alcohol dependence 9.6
32 spondyloarthropathy 1 9.6
33 rheumatoid arthritis 9.6
34 hypervitaminosis a 9.6
35 paine syndrome 9.6
36 malaria 9.6
37 deficiency anemia 9.6
38 pulmonary hypertension 9.6
39 alopecia 9.6
40 arthritis 9.6
41 crohn's disease 9.6
42 spinal cord injury 9.6
43 tungiasis 9.6
44 meningococcal meningitis 9.6
45 common cold 9.6
46 keratomalacia 9.6
47 iron deficiency anemia 9.6
48 hemosiderosis 9.6
49 trichuriasis 9.6
50 diarrhea 9.6

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 SLC23A2 SPARC

Drugs & Therapeutics for Hypoascorbemia

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

(show all 19)
# 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 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 6221 5280795
6 Antioxidants Phase 2,Phase 1
7 Bone Density Conservation Agents Phase 2
8 Ergocalciferols Phase 2
9 Micronutrients Phase 2,Phase 1
10 Protective Agents Phase 2,Phase 1
11 Trace Elements Phase 2,Phase 1
12 Vitamins Phase 2,Phase 1
13 Cholinergic Agents Phase 2
14 insulin Phase 2
15 Insulin, Globin Zinc Phase 2
16 Neurotransmitter Agents Phase 2
17 Vasodilator Agents Phase 2
18 Calciferol Nutraceutical Phase 2
19 Vitamin D2 Nutraceutical Phase 2

Interventional clinical trials:


# 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

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

Publications for Hypoascorbemia

Articles related to Hypoascorbemia:

(show all 41)
# Title Authors Year
1
Hypovitaminosis C and vitamin C deficiency in critically ill patients despite recommended enteral and parenteral intakes. ( 29228951 )
2017
2
Modern American scurvy - experience with vitamin C deficiency at a large children's hospital. ( 27778040 )
2017
3
Improper Use of a Plant-Based Vitamin C-Deficient Beverage Causes Scurvy in an Infant. ( 26783325 )
2016
4
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
5
Hypoascorbemia induces atherosclerosis and vascular deposition of lipoprotein(a) in transgenic mice. ( 26064792 )
2015
6
Gingival overgrowth caused by vitamin C deficiency associated with metabolic syndrome and severe periodontal infection: a case report. ( 25548632 )
2014
7
Does vitamin C deficiency increase lifestyle-associated vascular disease progression? Evidence based on experimental and clinical studies. ( 23642093 )
2013
8
Chronic vitamin E deficiency promotes vitamin C deficiency in zebrafish leading to degenerative myopathy and impaired swimming behavior. ( 23570751 )
2013
9
Association between vitamin C deficiency and dialysis modalities. ( 22404236 )
2012
10
Scurvy in the Great Irish Famine: evidence of vitamin C deficiency from a mid-19th century skeletal population. ( 22460661 )
2012
11
Vitamin C deficiency is an under-diagnosed contributor to degenerative disc disease in the elderly. ( 19932568 )
2010
12
Vitamin C deficiency attenuates liver fibrosis by way of up-regulated peroxisome proliferator-activated receptor-gamma expression in senescence marker protein 30 knockout mice. ( 20162732 )
2010
13
Extensive bruising secondary to vitamin C deficiency. ( 21686649 )
2009
14
Vitamin C deficiency and scurvy are not only a dietary problem but are codetermined by the haptoglobin polymorphism. ( 17644791 )
2007
15
[Vitamin C deficiency and leg ulcers. A case control study]. ( 17475430 )
2007
16
Possible interplay between vitamin C deficiency and prolactin in pregnant women with premature rupture of membranes: facts and hypothesis. ( 15607547 )
2005
17
Vitamin C deficiency in cancer patients. ( 15690864 )
2005
18
Spontaneous fractures in the mouse mutant sfx are caused by deletion of the gulonolactone oxidase gene, causing vitamin C deficiency. ( 16059632 )
2005
19
Elevated blood histamine caused by vaccinations and Vitamin C deficiency may mimic the shaken baby syndrome. ( 15050101 )
2004
20
Could Vitamin C deficiency have a role in shaken baby syndrome? ( 15660885 )
2004
21
Hemorrhage associated with vitamin C deficiency in surgical patients. ( 11935131 )
2002
22
The L-gulono-gamma-lactone oxidase gene (GULO) which is a candidate for vitamin C deficiency in pigs maps to chromosome 14. ( 10467707 )
1999
23
Less induced 1-methyl-4-phenylpyridinium ion neurotoxicity on striatal slices from guinea-pigs fed with a vitamin C-deficient diet. ( 9044384 )
1997
24
Evidence for an in vivo role of insulin-like growth factor-binding protein-1 and -2 as inhibitors of collagen gene expression in vitamin C-deficient and fasted guinea pigs. ( 7509738 )
1994
25
Effect of vitamin C deficiency and excess on the liver: a histopathological and biochemical study in guinea pigs fed normal or high cholesterol diet. ( 2132497 )
1990
26
Effect of vitamin C deficiency on hydroxylation of trimethylaminobutyrate to carnitine in the guinea pig. ( 6692007 )
1984
27
Vitamin C deficiency (scurvy)--a case report. ( 6605327 )
1983
28
Platelet function in scurvy and experimental human vitamin C deficiency. ( 7330838 )
1981
29
Adult vitamin C deficiency. Scurvy- a case report. ( 7299021 )
1981
30
The effect of vitamin C deficiency on complement systems and complement components. ( 7328444 )
1981
31
Relationship between hemorrhagic ocular diseases and vitamin C deficiency: clinical and experimental data. ( 7211624 )
1980
32
Vitamin C deficiency. ( 7418435 )
1980
33
Scurvy and vitamin C deficiency in Crohn's disease. ( 432168 )
1979
34
Vitamin C deficiency in guinea pigs: changes in urinary excretion of proline, hydroxyproline and total amino nitrogen. ( 468470 )
1979
35
The hypoascorbemia - kwashiorkor approach to drug addiction therapy: a pilot study. ( 418764 )
1978
36
[The significance of changes in the functional properties of blood platelets, factor XIII activity and fibrin clot quality in the pathogenesis of hemorrhagic diathesis secondary to experimental vitamin C deficiency]. ( 5370913 )
1969
37
The genetic disease, Hypoascorbemia. A fresh approach to an ancient disease and some of its medical implications. ( 6063937 )
1967
38
Hypoascorbemia, the genetic disease causing the human requirement for exogenous ascorbic acid. ( 6002772 )
1966
39
Vitamin-C Deficiency and Periostitis of Both Ulnae.? Scurvy. ( 19991745 )
1939
40
THE RELATION OF VITAMIN C DEFICIENCY TO INTESTINAL TUBERCULOSIS IN THE GUINEA PIG. ( 19870211 )
1933
41
Vitamin-C Deficiency and Periostitis of Both UlnA ( 20916142 )
0

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 9.43 SLC23A1 SLC23A2
2 lung development GO:0030324 9.4 SLC23A1 SPARC
3 ossification GO:0001503 9.37 CHRDL1 SPARC
4 nucleobase-containing compound metabolic process GO:0006139 9.32 SLC23A1 SLC23A2
5 L-ascorbic acid metabolic process GO:0019852 9.26 SLC23A1 SLC23A2
6 transepithelial L-ascorbic acid transport GO:0070904 9.16 SLC23A1 SLC23A2
7 L-ascorbic acid transmembrane transport GO:0015882 8.96 SLC23A1 SLC23A2
8 nucleobase transport GO:0015851 8.62 SLC23A1 SLC23A2

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

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