Aliases & Classifications for Hypervitaminosis a

MalaCards integrated aliases for Hypervitaminosis a:

Name: Hypervitaminosis a 56 12 74 54 43 15 17 71 32
Hypervitaminosis a, Susceptibility to 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
hypervitaminosis a:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Hypervitaminosis a

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 intracranial hypertension, idiopathic, 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 Signaling by GPCR and Metabolism of water-soluble vitamins and cofactors. The drugs Vitamin A and Trace Elements have been mentioned in the context of this disorder. Affiliated tissues include bone, liver and kidney, and related phenotypes are increased intracranial pressure and renal insufficiency

Wikipedia : 74 Hypervitaminosis A refers to the toxic effects of ingesting too much preformed vitamin A. Symptoms arise... more...

More information from OMIM: 240150

Related Diseases for Hypervitaminosis a

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 30.3 RBP4 CYP26A1
2 intracranial hypertension, idiopathic 30.1 RBP4 RARA
3 hypercarotenemia and vitamin a deficiency, autosomal dominant 28.8 TTR RBP4 RARS1 RARA CYP26A1 BCO1
4 cleft palate, isolated 10.3
5 intracranial hypertension 10.3
6 neurofibromatosis, type ii 10.2
7 hyperostosis 10.2
8 hydrocephalus 10.2
9 kidney disease 10.1
10 exencephaly 10.1
11 papilledema 10.1
12 caffey disease 10.0
13 fibrosis of extraocular muscles, congenital, 1 10.0
14 cystic fibrosis 10.0
15 portal hypertension 10.0
16 liver cirrhosis 10.0
17 hard palate cancer 10.0
18 fatty liver disease 10.0
19 spondylosis, cervical 9.9
20 anencephaly 9.9
21 bone resorption disease 9.9
22 hydronephrosis 9.9
23 hyperparathyroidism 9.9
24 spondylosis 9.9
25 ankylosis 9.9
26 acute kidney failure 9.9
27 neuroblastoma 9.9
28 chronic kidney disease 9.9
29 alopecia 9.9
30 hypervitaminosis d 9.9
31 atherosclerosis susceptibility 9.8
32 gastroesophageal reflux 9.8
33 alagille syndrome 1 9.8
34 migraine with or without aura 1 9.8
35 osteoporosis 9.8
36 neural tube defects 9.8
37 varicose veins 9.8
38 autism 9.8
39 hypoascorbemia 9.8
40 ocular motor apraxia 9.8
41 fryns microphthalmia syndrome 9.8
42 homocysteinemia 9.8
43 bulimia nervosa 9.8
44 malaria 9.8
45 bone mineral density quantitative trait locus 8 9.8
46 bone mineral density quantitative trait locus 15 9.8
47 retinal dystrophy, iris coloboma, and comedogenic acne syndrome 9.8
48 hydrops, lactic acidosis, and sideroblastic anemia 9.8
49 hyperphosphatemia 9.8
50 brachydactyly 9.8

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



Diseases related to Hypervitaminosis a

Symptoms & Phenotypes for Hypervitaminosis a

Human phenotypes related to Hypervitaminosis a:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 increased intracranial pressure 31 HP:0002516
2 renal insufficiency 31 HP:0000083
3 ascites 31 HP:0001541
4 hypercalcemia 31 HP:0003072
5 papilledema 31 HP:0001085
6 abnormality of the liver 31 HP:0001392
7 lower limb pain 31 HP:0012514
8 nausea 31 HP:0002018
9 abnormality of the coagulation cascade 31 HP:0003256
10 alopecia totalis 31 HP:0007418

Symptoms via clinical synopsis from OMIM:

56
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:

45 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.16 CDKN1A CDKN1B CYP26A1 CYP26B1 RARA RARG
2 craniofacial MP:0005382 10.04 CDKN1A CDKN1B CYP26A1 CYP26B1 RARA RARG
3 endocrine/exocrine gland MP:0005379 10.03 CDKN1A CDKN1B CRABP1 CYP26B1 RARA RARG
4 digestive/alimentary MP:0005381 10.02 CDKN1A CDKN1B CYP26A1 RARA RARG RBP4
5 embryo MP:0005380 10 CDKN1A CDKN1B CYP26A1 CYP26B1 RARA RARG
6 hearing/vestibular/ear MP:0005377 9.95 CDKN1A CDKN1B CRABP1 CRABP2 RARA RARG
7 limbs/digits/tail MP:0005371 9.91 CDKN1A CRABP1 CRABP2 CYP26A1 CYP26B1 RARA
8 reproductive system MP:0005389 9.81 CDKN1A CDKN1B CRABP1 CYP26A1 CYP26B1 RARA
9 no phenotypic analysis MP:0003012 9.8 CDKN1A CDKN1B CYP26A1 ISX STRA6 TTR
10 renal/urinary system MP:0005367 9.8 CDKN1A CDKN1B CYP26A1 RARA RARG RBP4
11 skeleton MP:0005390 9.56 CDKN1A CDKN1B CYP26A1 CYP26B1 RARA RARG
12 vision/eye MP:0005391 9.28 CDKN1A CDKN1B CYP26B1 RARA RARG RBP1

Drugs & Therapeutics for Hypervitaminosis a

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 68-26-8, 11103-57-4, 22737-96-8 445354 9904001
2 Trace Elements
3 Micronutrients
4 Liver Extracts
5 retinol
6 Nutrients
7 Antioxidants
8 Retinol palmitate
9 Protective Agents
10 Vitamins

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

Genetic Tests for Hypervitaminosis a

Anatomical Context for Hypervitaminosis a

MalaCards organs/tissues related to Hypervitaminosis a:

40
Bone, Liver, Kidney, Skin, Testes, Lung, Thyroid

Publications for Hypervitaminosis a

Articles related to Hypervitaminosis a:

(show top 50) (show all 736)
# Title Authors PMID Year
1
Severe hypervitaminosis A in siblings: evidence of variable tolerance to retinol intake. 61 56
3655980 1987
2
Unusual presentation of vitamin A intoxication. 56
6644452 1983
3
Analysis of normal and truncated holo- and apo-retinol-binding protein (RBP) in human serum: altered ratios in chronic renal failure. 54 61
8664978 1996
4
Serum levels of vitamin A and retinol binding protein in chronic renal patients treated by continuous ambulatorial peritoneal dialysis. 54 61
1517032 1992
5
Vitamin A administration in lizards during tail regeneration determines epithelial mucogenesis and delays muscle and cartilage differentiation. 61
31631512 2020
6
Is it time for South Africa to end the routine high-dose vitamin A supplementation programme? 61
31865950 2019
7
Rubella Virus Infection, the Congenital Rubella Syndrome, and the Link to Autism. 61
31546693 2019
8
South African preschool children habitually consuming sheep liver and exposed to vitamin A supplementation and fortification have hypervitaminotic A liver stores: a cohort study. 61
31089689 2019
9
Restricting vitamin A intake increases bone formation in Zambian children with high liver stores of vitamin. 61
31254130 2019
10
Overlapping vitamin A interventions in the United States, Guatemala, Zambia, and South Africa: case studies. 61
30265402 2019
11
Correction osteotomy for bilateral varus knee deformity caused by premature epiphyseal closure induced by hypervitaminosis A: a case report. 61
31202274 2019
12
Highlight Article: Retinol isotope dilution accurately predicts liver reserves in piglets but overestimates reserves in lactating sows. 61
30889962 2019
13
Vitamin A decreases the anabolic bone response to mechanical loading by suppressing bone formation. 61
30668919 2019
14
The Need to Consider Context in the Evaluation of Anti-infectious and Immunomodulatory Effects of Vitamin A and its Derivatives. 61
30556501 2019
15
Gulf War Illness: Unifying Hypothesis for a Continuing Health Problem. 61
30609834 2019
16
Spectrum of Voriconazole-Induced Periostitis With Review of the Differential Diagnosis. 61
30403528 2019
17
Liver Cirrhosis From Chronic Hypervitaminosis A Resulting in Liver Transplantation: A Case Report. 61
30655144 2019
18
Acute hypervitaminosis A misdiagnosed as malaria in a 7-year-old Nigerian boy. 61
31372061 2019
19
Bones in human CYP26B1 deficiency and rats with hypervitaminosis A phenocopy Vegfa overexpression. 61
30003121 2018
20
Effects of retinoids on physiologic and inflammatory osteoclastogenesis in vitro. 61
30059166 2018
21
Serum retinyl esters are positively correlated with analyzed total liver vitamin A reserves collected from US adults at time of death. 61
30475970 2018
22
Hepatic Vitamin A Concentrations in Vervets (Chlorocebus aethiops) Supplemented with Carotenoids Derived from Oil Palm. 61
30021671 2018
23
Studies of indirect and direct effects of hypervitaminosis A on rat bone by comparing free access to food and pair-feeding. 61
29697007 2018
24
Acute fish liver intoxication induced blisters formation and generalized skin peeling. 61
28841060 2018
25
Malaria, Epstein-Barr virus infection and the pathogenesis of Burkitt's lymphoma. 61
28707393 2017
26
Identification of potential target genes and related regulatory transcription factors in spontaneous hairline fracture induced by hypervitaminosis A. 61
28511966 2017
27
Vitamin A in pediatrics: An update from the Nutrition Committee of the French Society of Pediatrics. 61
28139365 2017
28
IMPACT OF ATRA ON OVALBUMIN AND MOLD-SENSITIZED F344 RATS AND REVERSAL OF HEALTH-RELATED IMPLICATIONS BY CITRAL. 61
29033473 2017
29
Excessive dietary intake of vitamin A reduces skull bone thickness in mice. 61
28426756 2017
30
Hypertrophic Osteoarthropathy: Clinical and Imaging Features. 61
27935768 2017
31
A baby with a lot of nerve. 61
26656927 2016
32
Assessing the Safety of Vitamin A Delivered Through Large-Scale Intervention Programs: Workshop Report on Setting the Research Agenda. 61
26893060 2016
33
Characterization of hypertrophic osteoarthropathy in an identified skeleton from Évora, Portugal, using combined and comparative morphology and microscopy. 61
29539516 2016
34
Immediate effects of retinoic acid on gene expression in primary murine osteoblasts. 61
25956707 2016
35
Pathogenesis of Zika Virus-Associated Embryopathy. 61
27403405 2016
36
[MALABSORPTION FAT-SOLUBLE VITAMINS AND PROSPECTS OF THEIR USE IN LIVER DISEASES]. 61
30284430 2016
37
Persistent behavioral effects following early life exposure to retinoic acid or valproic acid in zebrafish. 61
26439099 2016
38
Association of dietary consumption and serum levels of vitamin A and β-carotene with bone mineral density in Chinese adults. 61
26027509 2015
39
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. 61
26178727 2015
40
Comparisons among Equations Used for Retinol Isotope Dilution in the Assessment of Total Body Stores and Total Liver Reserves. 61
25809683 2015
41
[Idiopathic intracranial hypertension caused by dietary hypervitaminosis A]. 61
25088054 2015
42
Hypervitaminosis A is prevalent in children with CKD and contributes to hypercalcemia. 61
25119682 2015
43
Retinoid receptors in bone and their role in bone remodeling. 61
25814978 2015
44
Stevens-Johnson syndrome and toxic epidermal necrolysis (SJS/TEN): could retinoids play a causative role? 61
25579087 2015
45
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. 61
25411289 2014
46
Hypervitaminosis A causing hypercalcemia in cystic fibrosis. Case report and focused review. 61
25188737 2014
47
Clinical associations of hepatic stellate cell (HSC) hyperplasia. 61
24809674 2014
48
Hypervitaminosis A-induced hepatic fibrosis in a cat. 61
24563496 2014
49
Hypercalcaemia secondary to hypervitaminosis a in a patient with chronic renal failure. 61
25303202 2014
50
Pediatric idiopathic intracranial hypertension and the underlying endocrine-metabolic dysfunction: a pilot study. 61
24025722 2014

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 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.88 TTR STRA6 RBP4 RBP1 RARG RARA
2
Show member pathways
12.43 TTR RBP4 RBP1 BCO1
3
Show member pathways
12.13 TTR STRA6 RBP4 RBP1 BCO1
4 11.85 RARA CYP26B1 CYP26A1 CDKN1A
5 11.63 TTR RBP4 RBP1 CDKN1B CDKN1A
6 11.62 RBP1 CDKN1B CDKN1A
7
Show member pathways
11.36 TTR STRA6 RBP4 RBP1
8 11.29 RARG RARA CRABP2
9
Show member pathways
11.25 RARG RARA CYP26B1 CYP26A1 CRABP2 CRABP1
10 11.18 RARG RARA CYP26A1
11 10.93 RBP1 RARA
12 10.92 RBP4 RBP1 RARG RARA CYP26B1 CYP26A1
13
Show member pathways
10.74 TTR STRA6 RBP4 RBP1
14
Show member pathways
10.62 RBP4 RBP1

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-containing complex GO:0032991 9.02 TTR STRA6 RBP4 CDKN1B CDKN1A

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

(show all 36)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of cell proliferation GO:0008285 9.97 RARG RARA CDKN1B CDKN1A
2 heart development GO:0007507 9.9 STRA6 RBP4 CDKN1B CDKN1A
3 transcription initiation from RNA polymerase II promoter GO:0006367 9.85 RARG RARA CDKN1A
4 kidney development GO:0001822 9.81 STRA6 CYP26B1 CYP26A1
5 cellular response to retinoic acid GO:0071300 9.76 RARG RARA CYP26B1
6 bone morphogenesis GO:0060349 9.67 RARG RARA CYP26B1
7 response to lipid GO:0033993 9.66 RARG RARA
8 sterol metabolic process GO:0016125 9.66 CYP26B1 CYP26A1
9 regulation of myelination GO:0031641 9.65 RARG RARA
10 face development GO:0060324 9.65 RARG RARA
11 mitotic cell cycle arrest GO:0071850 9.65 CDKN1B CDKN1A
12 negative regulation of phosphorylation GO:0042326 9.64 CDKN1B CDKN1A
13 embryonic camera-type eye development GO:0031076 9.63 RARG RARA
14 growth plate cartilage development GO:0003417 9.63 RARG RARA
15 negative regulation of cartilage development GO:0061037 9.62 RARG RARA
16 positive regulation of programmed cell death GO:0043068 9.62 RARG CDKN1A
17 retinol metabolic process GO:0042572 9.62 TTR RBP4 RBP1 BCO1
18 epithelium development GO:0060429 9.61 RARG RARA
19 negative regulation of retinoic acid receptor signaling pathway GO:0048387 9.61 CYP26B1 CYP26A1
20 vitamin metabolic process GO:0006766 9.59 CYP26B1 CYP26A1
21 gland development GO:0048732 9.58 RARG RARA
22 retinoic acid metabolic process GO:0042573 9.58 RBP1 CYP26A1 CRABP2
23 regulation of retinoic acid receptor signaling pathway GO:0048385 9.57 CYP26B1 CRABP2
24 ergosterol biosynthetic process GO:0006696 9.56 CYP26B1 CYP26A1
25 retinoic acid biosynthetic process GO:0002138 9.55 RBP1 CRABP2
26 negative regulation of cyclin-dependent protein kinase activity GO:1904030 9.54 CDKN1B CDKN1A
27 retinoic acid receptor signaling pathway GO:0048384 9.54 RARG RARA CYP26B1
28 trachea cartilage development GO:0060534 9.52 RARG RARA
29 glandular epithelial cell development GO:0002068 9.51 RARG RARA
30 negative regulation of cardiac muscle tissue regeneration GO:1905179 9.48 CDKN1B CDKN1A
31 retinol transport GO:0034633 9.46 STRA6 RBP4
32 response to vitamin A GO:0033189 9.46 RBP1 RARA CYP26B1 CYP26A1
33 regulation of granulocyte differentiation GO:0030852 9.43 RBP1 RARA
34 retinoic acid catabolic process GO:0034653 9.43 CYP26B1 CYP26A1 CRABP1
35 retinoid metabolic process GO:0001523 9.35 TTR STRA6 RBP4 RBP1 BCO1
36 response to retinoic acid GO:0032526 9.02 RBP4 RARG RARA CYP26B1 CYP26A1

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 retinoid binding GO:0005501 9.56 RBP4 RBP1 CRABP2 CRABP1
2 retinoic acid binding GO:0001972 9.55 RARA CYP26B1 CYP26A1 CRABP2 CRABP1
3 cyclin binding GO:0030332 9.49 CDKN1B CDKN1A
4 protein kinase inhibitor activity GO:0004860 9.48 CDKN1B CDKN1A
5 cyclin-dependent protein serine/threonine kinase inhibitor activity GO:0004861 9.46 CDKN1B CDKN1A
6 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen GO:0016709 9.43 CYP26B1 CYP26A1
7 retinoic acid 4-hydroxylase activity GO:0008401 9.4 CYP26B1 CYP26A1
8 C-22 sterol desaturase activity GO:0000249 9.37 CYP26B1 CYP26A1
9 retinol binding GO:0019841 9.35 STRA6 RBP4 RBP1 CRABP2 CRABP1
10 retinol transmembrane transporter activity GO:0034632 9.32 STRA6 RBP4
11 retinal binding GO:0016918 9.02 STRA6 RBP4 RBP1 CRABP2 CRABP1

Sources for Hypervitaminosis a

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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