Aliases & Classifications for Hypervitaminosis a

MalaCards integrated aliases for Hypervitaminosis a:

Name: Hypervitaminosis a 53 12 72 51 41 14 69
Hypervitaminosis a, Susceptibility to 53

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
hypervitaminosis a:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Hypervitaminosis a

MalaCards based summary : Hypervitaminosis a, also known as hypervitaminosis a, susceptibility to, is related to keratomalacia and hepatitis, and has symptoms including nausea, increased intracranial pressure and renal insufficiency. An important gene associated with Hypervitaminosis a is RBP4 (Retinol Binding Protein 4), and among its related pathways/superpathways are Kaposi's sarcoma-associated herpesvirus infection and Common Cytokine Receptor Gamma-Chain Family Signaling Pathways. The drugs Vitamin A and acetic acid have been mentioned in the context of this disorder. Affiliated tissues include bone, liver and lung, and related phenotype is vision/eye.

Wikipedia : 72 Hypervitaminosis A refers to the toxic effects of ingesting too much preformed vitamin A. Symptoms arise... more...

Description from OMIM: 240150

Related Diseases for Hypervitaminosis a

Graphical network of the top 20 diseases related to Hypervitaminosis a:



Diseases related to Hypervitaminosis a

Symptoms & Phenotypes for Hypervitaminosis a

Symptoms via clinical synopsis from OMIM:

53
GI:
nausea
ascites
liver disease

Lab:
hypercalcemia

GU:
renal failure

Heme:
coagulopathy

HEENT:
increased intracranial pressure
papilledema
splayed cranial sutures

Skin:
alopecia totalis
erythematous, exfoliative rash

Skel:
leg pain
periosteal new bone formation


Clinical features from OMIM:

240150

Human phenotypes related to Hypervitaminosis a:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 nausea 31 HP:0002018
2 increased intracranial pressure 31 HP:0002516
3 renal insufficiency 31 HP:0000083
4 ascites 31 HP:0001541
5 abnormality of the skeletal system 31 HP:0000924
6 hypercalcemia 31 HP:0003072
7 papilledema 31 HP:0001085
8 abnormality of the liver 31 HP:0001392
9 alopecia totalis 31 HP:0007418
10 abnormality of the coagulation cascade 31 HP:0003256

MGI Mouse Phenotypes related to Hypervitaminosis a:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.1 CDKN1A CDKN1B CYP26B1 ELK1 RBP4 TTR

Drugs & Therapeutics for Hypervitaminosis a

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

(show all 13)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Vitamin A Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 68-26-8, 11103-57-4 445354
2
acetic acid Approved, Nutraceutical Phase 1, Phase 2 64-19-7 176
3 Antioxidants Phase 1, Phase 2
4 Micronutrients Phase 1, Phase 2
5 Protective Agents Phase 1, Phase 2
6 Retinol palmitate Phase 1, Phase 2
7 Trace Elements Phase 1, Phase 2
8 Vitamins Phase 1, Phase 2
9 Adjuvants, Immunologic Phase 1, Phase 2
10
Retinol acetate Phase 1, Phase 2 127-47-9 10245972
11 retinol Nutraceutical Phase 1, Phase 2
12 Sunflower Nutraceutical Phase 1, Phase 2
13 Liver Extracts

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Novel Isotope Dilution Technique to Assess Vitamin A Status and Hypervitaminosis A Recruiting NCT03000543 Phase 1, Phase 2
2 Total Body Vitamin A Before and After Vitamin A Supplementation in a Community Where Liver is Frequently Eaten Completed NCT02915731
3 Vitamin A Liver Reserves and Serum Markers of Vitamin A in US Adults at Time of Death Completed NCT03305042

Search NIH Clinical Center for Hypervitaminosis a

Cochrane evidence based reviews: hypervitaminosis a

Genetic Tests for Hypervitaminosis a

Anatomical Context for Hypervitaminosis a

MalaCards organs/tissues related to Hypervitaminosis a:

38
Bone, Liver, Lung, Skin, Testes, Thyroid, Adrenal Gland

Publications for Hypervitaminosis a

Articles related to Hypervitaminosis a:

(show top 50) (show all 351)
# Title Authors Year
1
Identification of potential target genes and related regulatory transcription factors in spontaneous hairline fracture induced by hypervitaminosis A. ( 28511966 )
2017
2
Hypervitaminosis a causing hypercalcemia in cystic fibrosis. Case report and focused review. ( 25188737 )
2014
3
Hypervitaminosis A-induced hepatic fibrosis in a cat. ( 24563496 )
2014
4
Hypervitaminosis A is prevalent in children with CKD and contributes to hypercalcemia. ( 25119682 )
2014
5
Hypercalcaemia Secondary to Hypervitaminosis A in a Patient with Chronic Renal Failure. ( 25303202 )
2014
6
Hypervitaminosis A in lambs fed milk replacer. ( 22952133 )
2012
7
Hypercalcemia, hypervitaminosis A and 3-epi-25-OH-D3 levels after consumption of an "over the counter" vitamin D remedy. a case report. ( 22426357 )
2012
8
Microarray profiling of diaphyseal bone of rats suffering from hypervitaminosis A. ( 22215263 )
2012
9
Hepatoprotective and immunological functions of Nigella sativa seed oil against hypervitaminosis A in adult male rats. ( 23591666 )
2012
10
Valproic acid downregulates RBP4 and elicits hypervitaminosis A-teratogenesis--a kinetic analysis on retinol/retinoic acid homeostatic system. ( 23028466 )
2012
11
Correcting a misrepresentation of hypervitaminosis A attributed to Herbalife product consumption. ( 21315714 )
2011
12
Case of hypercalcemia secondary to hypervitaminosis a in a 6-year-old boy with autism. ( 22937283 )
2011
13
Coordinated gene expression during gilthead sea bream skeletogenesis and its disruption by nutritional hypervitaminosis A. ( 21306609 )
2011
14
Pseudotumor cerebri due to hypervitaminosis A or hypervitaminosis D or both in Alagille syndrome. ( 19619235 )
2010
15
Hypervitaminosis A inducing intra-hepatic cholestasis--a rare case report. ( 19944093 )
2010
16
The effects of hypervitaminosis A in sheep following intramuscular administrations of vitamin A. ( 19808077 )
2010
17
Acute hypervitaminosis A in a young lady. ( 20395929 )
2010
18
Orally ingested (13)C(2)-retinol is incorporated into hepatic retinyl esters in a nonhuman primate (Macaca mulatta) model of hypervitaminosis A. ( 20158952 )
2010
19
Hypervitaminosis A in experimental nonhuman primates: evidence, causes, and the road to recovery. ( 19484706 )
2009
20
Mathematical modeling of serum 13C-retinol in captive rhesus monkeys provides new insights on hypervitaminosis A. ( 19710158 )
2009
21
Hypervitaminosis A altering the lipid profile in a hypercholesterolemic patient. ( 21291816 )
2009
22
Dysphagia and hypervitaminosis A: cervical hyperostosis. ( 19289294 )
2009
23
Hypervitaminosis a in pediatric hematopoietic stem cell patients requiring renal replacement therapy. ( 19033221 )
2008
24
Central physeal arrests as a manifestation of hypervitaminosis A. ( 17414024 )
2007
25
Hypervitaminosis A-induced premature closure of epiphyses (physeal obliteration) in humans and calves (hyena disease): a historical review of the human and veterinary literature. ( 17909784 )
2007
26
Hypervitaminosis A-induced liver fibrosis: stellate cell activation and daily dose consumption. ( 16448456 )
2006
27
Subclinical hypervitaminosis A in rat: measurements of bone mineral density (BMD) do not reveal adverse skeletal changes. ( 16289060 )
2006
28
Hypervitaminosis A resulting in DNA aberration in fetal transgenic mice (Muta Mouse). ( 16054864 )
2005
29
Hypervitaminosis A in the cat: a case report and review of the literature. ( 15994105 )
2005
30
Hypercalcemia caused by iatrogenic hypervitaminosis A. ( 15635357 )
2005
31
Polar hysteria: an expression of hypervitaminosis A. ( 15543093 )
2004
32
Hypervitaminosis A and fractures. ( 12540650 )
2003
33
Antagonism of hypervitaminosis A-induced anterior neural tube closure defects with a methyl-donor deficiency in murine whole-embryo culture. ( 14608074 )
2003
34
Subclinical hypervitaminosis A causes fragile bones in rats. ( 12531562 )
2002
35
Hypervitaminosis A and the redistribution of calcium in the neutrophil of chronic renal failure patients on maintenance hemodialysis treatment. ( 12356198 )
2002
36
Infant hypervitaminosis A causes severe anemia and thrombocytopenia: evidence of a retinol-dependent bone marrow cell growth inhibition. ( 11877274 )
2002
37
Hyperostotic polyarthropathy in a rabbit--a suspected case of chronic hypervitaminosis A from a diet of carrots. ( 11702930 )
2001
38
Back-scattered electron imaging of a non-vertebral case of hypervitaminosis A in a cat. ( 11716591 )
2000
39
Hypervitaminosis A and bone. ( 10860393 )
2000
40
Benign intracranial hypertension associated with hypervitaminosis A. ( 9503739 )
1998
41
Local disappearance of epiphyseal growth plates in rats with hypervitaminosis A. ( 9713809 )
1998
42
Alterations in kidney enzyme pattern in acute hypervitaminosis A. ( 9830487 )
1998
43
Mouse palatal width growth rates as an "at risk" factor in the development of cleft palate induced by hypervitaminosis A. ( 9493079 )
1997
44
Hypervitaminosis - a. ( 20947982 )
1996
45
Hypervitaminosis A as a complication of treatment for neuroblastoma. ( 8599009 )
1996
46
Hypervitaminosis A in two hemodialysis patients. ( 7847365 )
1995
47
Effects of hypervitaminosis A on rat fetus esophagus smooth muscle cells. ( 8580885 )
1995
48
Effect of hypervitaminosis A on intestinal digestive & absorptive functions in rat. ( 8063349 )
1994
49
Vitamin A absorption in cystic fibrosis: risk of hypervitaminosis A. ( 1612491 )
1992
50
Hypervitaminosis A in a cat. ( 1639706 )
1992

Variations for Hypervitaminosis a

Expression for Hypervitaminosis a

Search GEO for disease gene expression data for Hypervitaminosis a.

Pathways for Hypervitaminosis a

Pathways related to Hypervitaminosis a according to GeneCards Suite gene sharing:

(show all 17)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.24 CDKN1A CDKN1B ELK1
2
Show member pathways
12.13 CDKN1A CDKN1B ELK1 RBP4
3
Show member pathways
12.03 CDKN1A CDKN1B ELK1
4
Show member pathways
11.88 CDKN1A CDKN1B ELK1
5 11.35 CDKN1A CDKN1B
6 11.32 CDKN1A CDKN1B
7 11.28 CDKN1A CDKN1B
8
Show member pathways
11.26 RBP4 TTR
10 11.2 CDKN1A ELK1
11 11.18 CDKN1A CDKN1B
12 11.14 CDKN1A CDKN1B
13 11.1 CDKN1A CDKN1B
14 11.01 CYP26B1 RBP4
15 10.96 CDKN1A CDKN1B ELK1
16
Show member pathways
10.54 RBP4 TTR
17 10.29 CDKN1A CDKN1B RBP4 TTR

GO Terms for Hypervitaminosis a

Cellular components related to Hypervitaminosis a according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein complex GO:0043234 8.92 CDKN1A CDKN1B RBP4 TTR

Biological processes related to Hypervitaminosis a according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 retinoid metabolic process GO:0001523 9.49 RBP4 TTR
2 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest GO:0006977 9.48 CDKN1A CDKN1B
3 positive regulation of cell death GO:0010942 9.46 CDKN1A CDKN1B
4 protein kinase B signaling GO:0043491 9.43 CDKN1A CDKN1B
5 regulation of cyclin-dependent protein serine/threonine kinase activity GO:0000079 9.4 CDKN1A CDKN1B
6 retinol metabolic process GO:0042572 9.37 RBP4 TTR
7 cellular response to gamma radiation GO:0071480 9.32 CDKN1A ELK1
8 negative regulation of cyclin-dependent protein serine/threonine kinase activity GO:0045736 9.26 CDKN1A CDKN1B
9 negative regulation of phosphorylation GO:0042326 9.16 CDKN1A CDKN1B
10 mitotic cell cycle arrest GO:0071850 8.96 CDKN1A CDKN1B
11 negative regulation of cyclin-dependent protein kinase activity GO:1904030 8.62 CDKN1A CDKN1B

Molecular functions related to Hypervitaminosis a according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cyclin-dependent protein serine/threonine kinase activity GO:0004693 9.16 CDKN1A CDKN1B
2 cyclin binding GO:0030332 8.96 CDKN1A CDKN1B
3 cyclin-dependent protein serine/threonine kinase inhibitor activity GO:0004861 8.62 CDKN1A CDKN1B

Sources for Hypervitaminosis a

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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