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MCID: HYP058
MIFTS: 45

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 57 12 75 55 44 15 17 72 33
Hypervitaminosis a, Susceptibility to 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
hypervitaminosis a:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Metabolic diseases
See all MalaCards categories (disease lists)
ICD10: 33


External Ids:

Disease Ontology 12 DOID:9972
OMIM 57 240150
ICD9CM 35 278.2
MeSH 44 D006986
SNOMED-CT 68 64559002
ICD10 33 E67.0
MedGen 42 C1855883
UMLS 72 C0020579
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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 Micronutrients have been mentioned in the context of this disorder. Affiliated tissues include bone, liver and skin, and related phenotypes are increased intracranial pressure and renal insufficiency

Wikipedia : 75 Hypervitaminosis A refers to the toxic effects of ingesting too much preformed vitamin A. Symptoms arise... more...

More information 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 top 50) (show all 100)
# Related Disease Score Top Affiliating Genes
1 keratomalacia 30.4 TTR RBP4
2 hypercarotenemia and vitamin a deficiency, autosomal dominant 30.3 TTR RBP4
3 cleft palate, isolated 10.3
4 intracranial hypertension 10.3
5 neurofibromatosis, type ii 10.2
6 hyperostosis 10.2
7 hydrocephalus 10.2
8 congenital hydrocephalus 10.2
9 intracranial hypertension, idiopathic 10.2
10 kidney disease 10.1
11 exencephaly 10.1
12 papilledema 10.1
13 caffey disease 10.0
14 fibrosis of extraocular muscles, congenital, 1 10.0
15 cystic fibrosis 10.0
16 portal hypertension 10.0
17 liver cirrhosis 10.0
18 hard palate cancer 10.0
19 fatty liver disease 10.0
20 retinal cancer 10.0 CDKN1B CDKN1A
21 spondylosis, cervical 9.9
22 anencephaly 9.9
23 neuroblastoma 1 9.9
24 bone resorption disease 9.9
25 hydronephrosis 9.9
26 hyperparathyroidism 9.9
27 spondylosis 9.9
28 ankylosis 9.9
29 acute kidney failure 9.9
30 chronic kidney disease 9.9
31 alopecia 9.9
32 hypervitaminosis d 9.9
33 ocular cancer 9.8 CDKN1B CDKN1A
34 atherosclerosis susceptibility 9.8
35 gastroesophageal reflux 9.8
36 alagille syndrome 1 9.8
37 migraine with or without aura 1 9.8
38 osteoporosis 9.8
39 neural tube defects 9.8
40 varicose veins 9.8
41 autism 9.8
42 hypoascorbemia 9.8
43 ocular motor apraxia 9.8
44 fryns microphthalmia syndrome 9.8
45 branchiootic syndrome 1 9.8
46 homocysteinemia 9.8
47 bulimia nervosa 9.8
48 malaria 9.8
49 bone mineral density quantitative trait locus 8 9.8
50 bone mineral density quantitative trait locus 15 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:

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 increased intracranial pressure 32 HP:0002516
2 renal insufficiency 32 HP:0000083
3 ascites 32 HP:0001541
4 hypercalcemia 32 HP:0003072
5 papilledema 32 HP:0001085
6 abnormality of the liver 32 HP:0001392
7 lower limb pain 32 HP:0012514
8 nausea 32 HP:0002018
9 abnormality of the coagulation cascade 32 HP:0003256
10 alopecia totalis 32 HP:0007418

Symptoms via clinical synopsis from OMIM:

57
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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.1 CDKN1A CDKN1B CYP26B1 ELK1 RBP4 TTR
Sources

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, 11103-57-4, 68-26-8 9904001 445354
2 Micronutrients
3 Trace Elements
4 Antioxidants
5 Vitamins
6 retinol
7 Retinol palmitate
8 Protective Agents
9 Nutrients
10 Liver Extracts

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Total Body Vitamin A Pool Size in Preschool Children Before and After Vitamin A Supplementation in an Impoverished South African Community Where Liver is Frequently Eaten and Children Exposed to Vitamin A Fortified Staple Foods Completed NCT02915731
2 Vitamin A Liver Reserves and Serum Markers of Vitamin A in US Adults at Time of Death Completed NCT03305042
3 High/Low Dose Vit A in Diarrhea/ALRI in Severe PEM Completed NCT00388921 Vitamin A

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:

41
Bone, Liver, Skin, Testes, Lung, Thyroid, Eye
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Publications for Hypervitaminosis a

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Articles related to Hypervitaminosis a:

(show top 50) (show all 735)
# Title Authors PMID Year
1
Severe hypervitaminosis A in siblings: evidence of variable tolerance to retinol intake. 38 8
3655980 1987
2
Unusual presentation of vitamin A intoxication. 8
6644452 1983
3
Analysis of normal and truncated holo- and apo-retinol-binding protein (RBP) in human serum: altered ratios in chronic renal failure. 9 38
8664978 1996
4
Serum levels of vitamin A and retinol binding protein in chronic renal patients treated by continuous ambulatorial peritoneal dialysis. 9 38
1517032 1992
5
Restricting vitamin A intake increases bone formation in Zambian children with high liver stores of vitamin. 38
31254130 2019
6
Overlapping vitamin A interventions in the United States, Guatemala, Zambia, and South Africa: case studies. 38
30265402 2019
7
The Effect of Chronic High Dose Vitamin a Supplementation on Lipid Metabolism in Adipose Tissue (P02-013-19). 38
31224677 2019
8
Correction osteotomy for bilateral varus knee deformity caused by premature epiphyseal closure induced by hypervitaminosis A: a case report. 38
31202274 2019
9
Effects of Chronic Hypervitaminosis a on Global Plasma Metabolome Changes and Liver Gene Expression (OR05-06-19). 38
31225020 2019
10
Highlight Article: Retinol isotope dilution accurately predicts liver reserves in piglets but overestimates reserves in lactating sows. 38
30889962 2019
11
South African preschool children habitually consuming sheep liver and exposed to vitamin A supplementation and fortification have hypervitaminotic A liver stores: a cohort study. 38
31089689 2019
12
Vitamin A decreases the anabolic bone response to mechanical loading by suppressing bone formation. 38
30668919 2019
13
Gulf War Illness: Unifying Hypothesis for a Continuing Health Problem. 38
30609834 2019
14
The Need to Consider Context in the Evaluation of Anti-infectious and Immunomodulatory Effects of Vitamin A and its Derivatives. 38
30556501 2019
15
Spectrum of Voriconazole-Induced Periostitis With Review of the Differential Diagnosis. 38
30403528 2019
16
Liver Cirrhosis From Chronic Hypervitaminosis A Resulting in Liver Transplantation: A Case Report. 38
30655144 2019
17
Acute hypervitaminosis A misdiagnosed as malaria in a 7-year-old Nigerian boy. 38
31372061 2019
18
Bones in human CYP26B1 deficiency and rats with hypervitaminosis A phenocopy Vegfa overexpression. 38
30003121 2018
19
Effects of retinoids on physiologic and inflammatory osteoclastogenesis in vitro. 38
30059166 2018
20
Serum retinyl esters are positively correlated with analyzed total liver vitamin A reserves collected from US adults at time of death. 38
30475970 2018
21
Hepatic Vitamin A Concentrations in Vervets (Chlorocebus aethiops) Supplemented with Carotenoids Derived from Oil Palm. 38
30021671 2018
22
Studies of indirect and direct effects of hypervitaminosis A on rat bone by comparing free access to food and pair-feeding. 38
29697007 2018
23
Acute fish liver intoxication induced blisters formation and generalized skin peeling. 38
28841060 2018
24
Malaria, Epstein-Barr virus infection and the pathogenesis of Burkitt's lymphoma. 38
28707393 2017
25
Identification of potential target genes and related regulatory transcription factors in spontaneous hairline fracture induced by hypervitaminosis A. 38
28511966 2017
26
Vitamin A in pediatrics: An update from the Nutrition Committee of the French Society of Pediatrics. 38
28139365 2017
27
IMPACT OF ATRA ON OVALBUMIN AND MOLD-SENSITIZED F344 RATS AND REVERSAL OF HEALTH-RELATED IMPLICATIONS BY CITRAL. 38
29033473 2017
28
Excessive dietary intake of vitamin A reduces skull bone thickness in mice. 38
28426756 2017
29
Hypertrophic Osteoarthropathy: Clinical and Imaging Features. 38
27935768 2017
30
A baby with a lot of nerve. 38
26656927 2016
31
Assessing the Safety of Vitamin A Delivered Through Large-Scale Intervention Programs: Workshop Report on Setting the Research Agenda. 38
26893060 2016
32
Characterization of hypertrophic osteoarthropathy in an identified skeleton from Évora, Portugal, using combined and comparative morphology and microscopy. 38
29539516 2016
33
Immediate effects of retinoic acid on gene expression in primary murine osteoblasts. 38
25956707 2016
34
Pathogenesis of Zika Virus-Associated Embryopathy. 38
27403405 2016
35
[MALABSORPTION FAT-SOLUBLE VITAMINS AND PROSPECTS OF THEIR USE IN LIVER DISEASES]. 38
30284430 2016
36
Persistent behavioral effects following early life exposure to retinoic acid or valproic acid in zebrafish. 38
26439099 2016
37
Association of dietary consumption and serum levels of vitamin A and β-carotene with bone mineral density in Chinese adults. 38
26027509 2015
38
High provitamin A carotenoid serum concentrations, elevated retinyl esters, and saturated retinol-binding protein in Zambian preschool children are consistent with the presence of high liver vitamin A stores. 38
26178727 2015
39
Comparisons among Equations Used for Retinol Isotope Dilution in the Assessment of Total Body Stores and Total Liver Reserves. 38
25809683 2015
40
[Idiopathic intracranial hypertension caused by dietary hypervitaminosis A]. 38
25088054 2015
41
Hypervitaminosis A is prevalent in children with CKD and contributes to hypercalcemia. 38
25119682 2015
42
Retinoid receptors in bone and their role in bone remodeling. 38
25814978 2015
43
Stevens-Johnson syndrome and toxic epidermal necrolysis (SJS/TEN): could retinoids play a causative role? 38
25579087 2015
44
Biofortified orange maize is as efficacious as a vitamin A supplement in Zambian children even in the presence of high liver reserves of vitamin A: a community-based, randomized placebo-controlled trial. 38
25411289 2014
45
Hypervitaminosis A causing hypercalcemia in cystic fibrosis. Case report and focused review. 38
25188737 2014
46
Clinical associations of hepatic stellate cell (HSC) hyperplasia. 38
24809674 2014
47
Hypervitaminosis A-induced hepatic fibrosis in a cat. 38
24563496 2014
48
Hypercalcaemia secondary to hypervitaminosis a in a patient with chronic renal failure. 38
25303202 2014
49
Pediatric idiopathic intracranial hypertension and the underlying endocrine-metabolic dysfunction: a pilot study. 38
24025722 2014
50
Mefloquine use, psychosis, and violence: a retinoid toxicity hypothesis. 38
23852388 2013
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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 18)
# Super pathways Score Top Affiliating Genes
1
Common Cytokine Receptor Gamma-Chain Family Signaling Pathways 65
Show member pathways
 12.23 RBP4 ELK1 CDKN1B CDKN1A
2
ErbB signaling pathway 37 1
Show member pathways
 12.16 ELK1 CDKN1B CDKN1A
3
Development IGF-1 receptor signaling 22
Show member pathways
 11.96 ELK1 CDKN1B CDKN1A
4
Cell cycle Role of SCF complex in cell cycle regulation 22
Show member pathways
 11.79 UBA1 CDKN1B CDKN1A
5
Validated targets of C-MYC transcriptional repression 1
11.36 CDKN1B CDKN1A
6
Celecoxib Pathway, Pharmacodynamics 61
11.33 CDKN1B CDKN1A
7
Regulation of retinoblastoma protein 1
11.31 CDKN1B CDKN1A
8
the visual cycle I (vertebrates) 1
Show member pathways
 11.29 TTR RBP4
10
Photodynamic therapy-induced AP-1 survival signaling. 1
11.23 ELK1 CDKN1A
11
Visual Cycle in Retinal Rods 64
11.23 TTR RBP4 CDKN1B CDKN1A
12
miRNAs involved in DNA damage response 1
11.21 CDKN1B CDKN1A
13
Aryl Hydrocarbon Receptor 1
11.18 CDKN1B CDKN1A
14
Association Between Physico-Chemical Features and Toxicity Associated Pathways 1
11.16 ELK1 CDKN1B CDKN1A
15
Integrated Cancer Pathway 1
11.14 CDKN1B CDKN1A
16
Vitamin A and Carotenoid Metabolism 1
11.1 RBP4 CYP26B1
17
Diseases associated with visual transduction 66
Show member pathways
 10.6 TTR RBP4
18
Development_Thrombopoetin signaling via JAK-STAT pathway 22
10.29 TTR RBP4 CDKN1B CDKN1A
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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 TTR RBP4 CDKN1B CDKN1A

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 TTR RBP4
2 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest GO:0006977 9.46 CDKN1B CDKN1A
3 regulation of cyclin-dependent protein serine/threonine kinase activity GO:0000079 9.43 CDKN1B CDKN1A
4 positive regulation of cell death GO:0010942 9.4 CDKN1B CDKN1A
5 response to retinoic acid GO:0032526 9.37 RBP4 CYP26B1
6 negative regulation of vascular smooth muscle cell proliferation GO:1904706 9.32 CDKN1B CDKN1A
7 retinol metabolic process GO:0042572 9.26 TTR RBP4
8 negative regulation of cyclin-dependent protein serine/threonine kinase activity GO:0045736 9.16 CDKN1B CDKN1A
9 negative regulation of phosphorylation GO:0042326 8.96 CDKN1B CDKN1A
10 negative regulation of cyclin-dependent protein kinase activity GO:1904030 8.62 CDKN1B CDKN1A

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

# Name GO ID Score Top Affiliating Genes
1 protein kinase inhibitor activity GO:0004860 8.96 CDKN1B CDKN1A
2 cyclin-dependent protein serine/threonine kinase inhibitor activity GO:0004861 8.62 CDKN1B CDKN1A
Sources

Sources for Hypervitaminosis a

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 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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