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MCID: HYP058
MIFTS: 48

Hypervitaminosis a

Categories: Metabolic diseases
Genes Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Hypervitaminosis a

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MalaCards integrated aliases for Hypervitaminosis a:

Name: Hypervitaminosis a 58 12 77 56 45 15 17 74
Hypervitaminosis a, Susceptibility to 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
hypervitaminosis a:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Metabolic diseases
See all MalaCards categories (disease lists)
ICD10: 34


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Summaries for Hypervitaminosis a

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Disease Ontology : 12 An overnutrition that is characterized by excess vitamin A, has symptom hepatomegaly, anorexia, fever, alopecia, and arthralgia, and has material basis in excessive intake of vitaimin A, and/or derangement of vitamin A metabolism.

MalaCards based summary : Hypervitaminosis a, also known as hypervitaminosis a, susceptibility to, is related to keratomalacia and hypercarotenemia and vitamin a deficiency, autosomal dominant, and has symptoms including hepatomegaly An important gene associated with Hypervitaminosis a is RBP4 (Retinol Binding Protein 4), and among its related pathways/superpathways are Common Cytokine Receptor Gamma-Chain Family Signaling Pathways and ErbB signaling pathway. The drugs Vitamin A and Antioxidants have been mentioned in the context of this disorder. Affiliated tissues include bone, liver and lung, and related phenotypes are increased intracranial pressure and renal insufficiency

Wikipedia : 77 Hypervitaminosis A refers to the toxic effects of ingesting too much preformed vitamin A. Symptoms arise... more...

Description from OMIM: 240150
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Related Diseases for Hypervitaminosis a

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Diseases in the Hypervitaminosis a family:

Hypervitaminosis D

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

(show all 38)
# Related Disease Score Top Affiliating Genes
1 keratomalacia 29.9 RBP4 TTR
2 hypercarotenemia and vitamin a deficiency, autosomal dominant 29.2 RARS RBP4 TTR
3 cleft palate, isolated 10.1
4 hyperostosis 10.1
5 intracranial hypertension 10.1
6 exencephaly 10.1
7 intracranial hypertension, idiopathic 10.1
8 cystic fibrosis 10.0
9 retinal cancer 10.0 CDKN1A CDKN1B
10 hyperparathyroidism 9.9
11 hypoxia 9.9
12 ocular cancer 9.9 CDKN1A CDKN1B
13 breast cancer 9.8
14 alagille syndrome 1 9.8
15 anencephaly 9.8
16 autism 9.8
17 neuroblastoma 9.8
18 alopecia 9.8
19 hepatitis 9.8
20 hydrocephalus 9.8
21 liver cirrhosis 9.8
22 thrombocytopenia 9.8
23 portal hypertension 9.8
24 hydronephrosis 9.8
25 brain compression 9.8
26 protein-energy malnutrition 9.8
27 goiter 9.8
28 gout 9.8
29 cholestasis 9.8
30 papilledema 9.8
31 viral hepatitis 9.8
32 spondylosis 9.8
33 papilloma 9.8
34 overnutrition 9.8
35 adenoma 9.8
36 fatty liver disease 9.8
37 hypervitaminosis d 9.8
38 dysphagia 9.8

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



Diseases related to Hypervitaminosis a
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Symptoms & Phenotypes for Hypervitaminosis a

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Human phenotypes related to Hypervitaminosis a:

33 (show all 10)
# Description HPO Frequency HPO Source Accession
1 increased intracranial pressure 33 HP:0002516
2 renal insufficiency 33 HP:0000083
3 ascites 33 HP:0001541
4 hypercalcemia 33 HP:0003072
5 papilledema 33 HP:0001085
6 abnormality of the liver 33 HP:0001392
7 lower limb pain 33 HP:0012514
8 abnormality of the coagulation cascade 33 HP:0003256
9 nausea 33 HP:0002018
10 alopecia totalis 33 HP:0007418

Symptoms via clinical synopsis from OMIM:

58
H E E N T:
increased intracranial pressure
papilledema
splayed cranial sutures

Lab:
hypercalcemia

G U:
renal failure

Heme:
coagulopathy

G I:
ascites
nausea
liver disease

Skin:
alopecia totalis
erythematous, exfoliative rash

Skel:
leg pain
periosteal new bone formation

Clinical features from OMIM:

240150

Symptoms:

12
  • • hepatomegaly

MGI Mouse Phenotypes related to Hypervitaminosis a:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.1 CDKN1A CDKN1B CYP26B1 ELK1 RBP4 TTR
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Drugs & Therapeutics for Hypervitaminosis a

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

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Vitamin A Approved, Nutraceutical, Vet_approved 22737-96-8, 68-26-8, 11103-57-4 9904001 445354
2 Antioxidants
3 Retinol palmitate
4 Nutrients
5 retinol
6 Trace Elements
7 Vitamins
8 Micronutrients
9 Liver Extracts
10 Protective Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Total Body Vitamin A Before and After Vitamin A Supplementation in a Community Where Liver is Frequently Eaten Completed NCT02915731
2 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

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Genetic Tests for Hypervitaminosis a

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Anatomical Context for Hypervitaminosis a

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MalaCards organs/tissues related to Hypervitaminosis a:

42
Bone, Liver, Lung, Skin, Testes, Thyroid, Adrenal Gland
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Publications for Hypervitaminosis a

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Articles related to Hypervitaminosis a:

(show top 50) (show all 361)
# Title Authors Year
1
Liver Cirrhosis From Chronic Hypervitaminosis A Resulting in Liver Transplantation: A Case Report. ( 30655144 )
2019
2
Studies of indirect and direct effects of hypervitaminosis A on rat bone by comparing free access to food and pair-feeding. ( 29697007 )
2018
3
Bones in human CYP26B1 deficiency and rats with hypervitaminosis A phenocopy Vegfa overexpression. ( 30003121 )
2018
4
Identification of potential target genes and related regulatory transcription factors in spontaneous hairline fracture induced by hypervitaminosis A. ( 28511966 )
2017
5
Hypervitaminosis A-induced hepatic fibrosis in a cat. ( 24563496 )
2014
6
Hypervitaminosis a causing hypercalcemia in cystic fibrosis. Case report and focused review. ( 25188737 )
2014
7
Hypervitaminosis A is prevalent in children with CKD and contributes to hypercalcemia. ( 25119682 )
2014
8
Hypercalcaemia Secondary to Hypervitaminosis A in a Patient with Chronic Renal Failure. ( 25303202 )
2014
9
Hypervitaminosis A in lambs fed milk replacer. ( 22952133 )
2012
10
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
11
Valproic acid downregulates RBP4 and elicits hypervitaminosis A-teratogenesis--a kinetic analysis on retinol/retinoic acid homeostatic system. ( 23028466 )
2012
12
Microarray profiling of diaphyseal bone of rats suffering from hypervitaminosis A. ( 22215263 )
2012
13
Hepatoprotective and immunological functions of Nigella sativa seed oil against hypervitaminosis A in adult male rats. ( 23591666 )
2012
14
Case of hypercalcemia secondary to hypervitaminosis a in a 6-year-old boy with autism. ( 22937283 )
2011
15
Correcting a misrepresentation of hypervitaminosis A attributed to Herbalife product consumption. ( 21315714 )
2011
16
Coordinated gene expression during gilthead sea bream skeletogenesis and its disruption by nutritional hypervitaminosis A. ( 21306609 )
2011
17
Hypervitaminosis A inducing intra-hepatic cholestasis--a rare case report. ( 19944093 )
2010
18
The effects of hypervitaminosis A in sheep following intramuscular administrations of vitamin A. ( 19808077 )
2010
19
Orally ingested (13)C(2)-retinol is incorporated into hepatic retinyl esters in a nonhuman primate (Macaca mulatta) model of hypervitaminosis A. ( 20158952 )
2010
20
Acute hypervitaminosis A in a young lady. ( 20395929 )
2010
21
Pseudotumor cerebri due to hypervitaminosis A or hypervitaminosis D or both in Alagille syndrome. ( 19619235 )
2010
22
Dysphagia and hypervitaminosis A: cervical hyperostosis. ( 19289294 )
2009
23
Mathematical modeling of serum 13C-retinol in captive rhesus monkeys provides new insights on hypervitaminosis A. ( 19710158 )
2009
24
Hypervitaminosis A altering the lipid profile in a hypercholesterolemic patient. ( 21291816 )
2009
25
Hypervitaminosis A in experimental nonhuman primates: evidence, causes, and the road to recovery. ( 19484706 )
2009
26
[Hypercalcemia revealing iatrogenic hypervitaminosis A in a child with autistic troubles]. ( 18162381 )
2008
27
Hypervitaminosis a in pediatric hematopoietic stem cell patients requiring renal replacement therapy. ( 19033221 )
2008
28
Central physeal arrests as a manifestation of hypervitaminosis A. ( 17414024 )
2007
29
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
30
Subclinical hypervitaminosis A in rat: measurements of bone mineral density (BMD) do not reveal adverse skeletal changes. ( 16289060 )
2006
31
Hypervitaminosis A-induced liver fibrosis: stellate cell activation and daily dose consumption. ( 16448456 )
2006
32
Hypervitaminosis A in the cat: a case report and review of the literature. ( 15994105 )
2005
33
Hypercalcemia caused by iatrogenic hypervitaminosis A. ( 15635357 )
2005
34
Hypervitaminosis A resulting in DNA aberration in fetal transgenic mice (Muta Mouse). ( 16054864 )
2005
35
Polar hysteria: an expression of hypervitaminosis A. ( 15543093 )
2004
36
Hypervitaminosis A and fractures. ( 12540650 )
2003
37
Antagonism of hypervitaminosis A-induced anterior neural tube closure defects with a methyl-donor deficiency in murine whole-embryo culture. ( 14608074 )
2003
38
Hypervitaminosis A and the redistribution of calcium in the neutrophil of chronic renal failure patients on maintenance hemodialysis treatment. ( 12356198 )
2002
39
Subclinical hypervitaminosis A causes fragile bones in rats. ( 12531562 )
2002
40
Infant hypervitaminosis A causes severe anemia and thrombocytopenia: evidence of a retinol-dependent bone marrow cell growth inhibition. ( 11877274 )
2002
41
Hyperostotic polyarthropathy in a rabbit--a suspected case of chronic hypervitaminosis A from a diet of carrots. ( 11702930 )
2001
42
Hypervitaminosis A and bone. ( 10860393 )
2000
43
Back-scattered electron imaging of a non-vertebral case of hypervitaminosis A in a cat. ( 11716591 )
2000
44
Local disappearance of epiphyseal growth plates in rats with hypervitaminosis A. ( 9713809 )
1998
45
Benign intracranial hypertension associated with hypervitaminosis A. ( 9503739 )
1998
46
Alterations in kidney enzyme pattern in acute hypervitaminosis A. ( 9830487 )
1998
47
Mouse palatal width growth rates as an "at risk" factor in the development of cleft palate induced by hypervitaminosis A. ( 9493079 )
1997
48
Hypervitaminosis - a. ( 20947982 )
1996
49
Hypervitaminosis A as a complication of treatment for neuroblastoma. ( 8599009 )
1996
50
[The effect of the prodigiozan stimulation of Kupffer cells on the development of perisinusoidal fibrosis in experimental hypervitaminosis A]. ( 9081613 )
1996
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Variations for Hypervitaminosis a

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Expression for Hypervitaminosis a

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Search GEO for disease gene expression data for Hypervitaminosis a.
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Pathways for Hypervitaminosis a

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

(show all 16)
# Super pathways Score Top Affiliating Genes
1
Common Cytokine Receptor Gamma-Chain Family Signaling Pathways 66
Show member pathways
 12.23 CDKN1A CDKN1B ELK1 RBP4
2
ErbB signaling pathway 1 38
Show member pathways
 12.1 CDKN1A CDKN1B ELK1
3
Development IGF-1 receptor signaling 23
Show member pathways
 11.88 CDKN1A CDKN1B ELK1
4
Validated targets of C-MYC transcriptional repression 1
11.34 CDKN1A CDKN1B
5
Celecoxib Pathway, Pharmacodynamics 62
11.31 CDKN1A CDKN1B
6
Regulation of retinoblastoma protein 1
11.28 CDKN1A CDKN1B
7
the visual cycle I (vertebrates) 1
Show member pathways
 11.26 RBP4 TTR
9
Photodynamic therapy-induced AP-1 survival signaling. 1
11.2 CDKN1A ELK1
10
miRNAs involved in DNA damage response 1
11.18 CDKN1A CDKN1B
11
Association Between Physico-Chemical Features and Toxicity Associated Pathways 1
11.16 CDKN1A CDKN1B ELK1
12
Aryl Hydrocarbon Receptor 1
11.14 CDKN1A CDKN1B
13
Integrated Cancer Pathway 1
11.1 CDKN1A CDKN1B
14
Vitamin A and Carotenoid Metabolism 1
11.05 CYP26B1 RBP4
15
Visual Cycle in Retinal Rods 65
10.9 CDKN1A CDKN1B RBP4 TTR
16
Development_Thrombopoetin signaling via JAK-STAT pathway 23
10.62 CDKN1A CDKN1B RBP4 TTR
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GO Terms for Hypervitaminosis a

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

# Name GO ID Score Top Affiliating Genes
1 protein-containing complex GO:0032991 8.92 CDKN1A CDKN1B RBP4 TTR

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

# Name GO ID Score Top Affiliating Genes
1 retinoid metabolic process GO:0001523 9.48 RBP4 TTR
2 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest GO:0006977 9.46 CDKN1A CDKN1B
3 regulation of cyclin-dependent protein serine/threonine kinase activity GO:0000079 9.43 CDKN1A CDKN1B
4 positive regulation of cell death GO:0010942 9.4 CDKN1A CDKN1B
5 response to retinoic acid GO:0032526 9.37 CYP26B1 RBP4
6 negative regulation of vascular smooth muscle cell proliferation GO:1904706 9.32 CDKN1A CDKN1B
7 retinol metabolic process GO:0042572 9.26 RBP4 TTR
8 negative regulation of cyclin-dependent protein serine/threonine kinase activity GO:0045736 9.16 CDKN1A CDKN1B
9 negative regulation of phosphorylation GO:0042326 8.96 CDKN1A CDKN1B
10 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 protein kinase inhibitor activity GO:0004860 8.96 CDKN1A CDKN1B
3 cyclin-dependent protein serine/threonine kinase inhibitor activity GO:0004861 8.62 CDKN1A CDKN1B
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Sources for Hypervitaminosis a

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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