MCID: HYP058
MIFTS: 48

Hypervitaminosis a

Categories: Endocrine diseases, Liver diseases, Metabolic diseases
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Aliases & Classifications for Hypervitaminosis a

MalaCards integrated aliases for Hypervitaminosis a:

Name: Hypervitaminosis a 57 11 75 53 43 14 16 71 31 33
Hypervitaminosis a, Susceptibility to 57
Hyperalimentation of Vitamin a 33

Characteristics:


Inheritance:

Autosomal recessive 57

Classifications:



External Ids:

Disease Ontology 11 DOID:9972
OMIM® 57 240150
ICD9CM 34 278.2
MeSH 43 D006986
SNOMED-CT 68 64559002
ICD10 31 E67.0
MedGen 40 C1855883
ICD11 33 1465667896
UMLS 71 C0020579

Summaries for Hypervitaminosis a

Disease Ontology: 11 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 neural tube defects, 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 Disease and Metabolism. The drugs Vitamin A and Vitamins have been mentioned in the context of this disorder. Affiliated tissues include liver, bone 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 (retinyl... 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 112)
# Related Disease Score Top Affiliating Genes
1 keratomalacia 30.8 TTR RBP4 RARS1 LRAT CYP26A1
2 neural tube defects 28.6 CYP26B1 CYP26A1 CRABP2 CRABP1
3 intracranial hypertension, idiopathic 10.4
4 cleft palate, isolated 10.4
5 intracranial hypertension 10.3
6 hyperostosis 10.3
7 acne 10.3
8 hydrocephalus 10.2
9 chronic kidney disease 10.2
10 cystic fibrosis 10.2
11 papilledema 10.2
12 kidney disease 10.2
13 exencephaly 10.2
14 caffey disease 10.1
15 autism 10.1
16 portal hypertension 10.1
17 exostosis 10.1
18 liver cirrhosis 10.1
19 alopecia 10.1
20 amyloidosis, hereditary, transthyretin-related 10.0 TTR RBP4
21 spondylosis, cervical 10.0
22 hypoascorbemia 10.0
23 deficiency anemia 10.0
24 autism spectrum disorder 10.0
25 anencephaly 10.0
26 meningocele 10.0
27 microcephaly 10.0
28 hydronephrosis 10.0
29 vitamin k deficiency bleeding 10.0
30 hyperparathyroidism 10.0
31 spondylosis 10.0
32 ankylosis 10.0
33 acute kidney failure 10.0
34 hypervitaminosis d 10.0
35 encephalocele 10.0
36 optic nerve hypoplasia, bilateral 10.0 CYP26B1 CYP26A1
37 carotenemia 9.9 TTR CYP26A1 BCO1
38 gastroesophageal reflux 9.8
39 bladder cancer 9.8
40 alagille syndrome 1 9.8
41 osseous heteroplasia, progressive 9.8
42 varicose veins 9.8
43 biotinidase deficiency 9.8
44 osteopetrosis, autosomal recessive 3 9.8
45 fryns microphthalmia syndrome 9.8
46 fanconi anemia, complementation group e 9.8
47 hyperhomocysteinemia 9.8
48 bulimia nervosa 9.8
49 prothrombin deficiency, congenital 9.8
50 hyperphosphatemia 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:

30 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 increased intracranial pressure 30 HP:0002516
2 renal insufficiency 30 HP:0000083
3 ascites 30 HP:0001541
4 abnormality of the liver 30 HP:0001392
5 hypercalcemia 30 HP:0003072
6 alopecia totalis 30 HP:0007418
7 abnormality of the coagulation cascade 30 HP:0003256
8 nausea 30 HP:0002018
9 papilledema 30 HP:0001085
10 lower limb pain 30 HP:0012514

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 (Updated 08-Dec-2022)

Symptoms:

11
  • hepatomegaly

MGI Mouse Phenotypes related to Hypervitaminosis a:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10 BCO1 CDKN1A CDKN1B CRABP1 CYP26B1 LRAT
2 no phenotypic analysis MP:0003012 9.8 CDKN1A CDKN1B CYP26A1 ISX STRA6 TTR
3 reproductive system MP:0005389 9.56 CDKN1A CDKN1B CRABP1 CYP26A1 CYP26B1 LRAT
4 hearing/vestibular/ear MP:0005377 9.55 CDKN1A CDKN1B CRABP1 CRABP2 RBP1
5 vision/eye MP:0005391 9.28 CDKN1A CDKN1B CRABP1 CYP26B1 LRAT RBP1

Drugs & Therapeutics for Hypervitaminosis a

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

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Vitamin A Approved, Nutraceutical, Vet_approved 22737-96-8, 68-26-8 5280382 445354
2 Vitamins
3 Liver Extracts
4 Retinol palmitate
5 Trace Elements
6 Micronutrients

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Niveles de Retinol Hepatico y óseo en cadáveres de Adolescentes y Adultos Guatemaltecos (Liver and Bone Retinol Levels in Guatemalan Adolescents and Adults) Unknown status NCT04438200
2 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

Search NIH Clinical Center for Hypervitaminosis a

Cochrane evidence based reviews: hypervitaminosis a

Genetic Tests for Hypervitaminosis a

Anatomical Context for Hypervitaminosis a

Organs/tissues related to Hypervitaminosis a:

MalaCards : Liver, Bone, Skin, Testes, Bone Marrow, Smooth Muscle, Small Intestine

Publications for Hypervitaminosis a

Articles related to Hypervitaminosis a:

(show top 50) (show all 762)
# Title Authors PMID Year
1
Severe hypervitaminosis A in siblings: evidence of variable tolerance to retinol intake. 62 57
3655980 1987
2
Unusual presentation of vitamin A intoxication. 57
6644452 1983
3
Analysis of normal and truncated holo- and apo-retinol-binding protein (RBP) in human serum: altered ratios in chronic renal failure. 53 62
8664978 1996
4
Serum levels of vitamin A and retinol binding protein in chronic renal patients treated by continuous ambulatorial peritoneal dialysis. 53 62
1517032 1992
5
Peeling away from hypervitaminosis A: the importance of close monitoring in patients taking high dose vitamin A supplementation. 62
36356936 2022
6
Did hypervitaminosis A have a role in Mawson's ill-fated Antarctic exploration? 62
36286587 2022
7
Total Liver Vitamin a Reserves Are Similar Among Tanzanian Preschool Children Determined with 13C2-Retinol Isotope Dilution in Low and High Vitamin a Exposure Areas. 62
36178059 2022
8
Filipino Children with High Usual Vitamin A Intakes and Exposure to Multiple Sources of Vitamin A Have Elevated Total Body Stores of Vitamin A But Do Not Show Clear Evidence of Vitamin A Toxicity. 62
36060221 2022
9
Structural changes of erythrocyte membrane revealed by 3D confocal optical profilometer. 62
36056822 2022
10
Biochemical markers and anthropometric profile of children enrolled in public daycare centers. 62
34774468 2022
11
Hypervitaminosis A in Pediatric Patients With Advanced Chronic Kidney Disease. 62
34103212 2022
12
Hypervitaminosis A with fulminant secondary intracranial hypertension following personalized medicine-based Elexacaftor/Tezacaftor/Ivacaftor initiation in a preadolescent with cystic fibrosis. 62
35131172 2022
13
Chronic and acute hypervitaminosis A are associated with suboptimal anthropometric measurements in a cohort of South African preschool children. 62
35030234 2022
14
Papilledema and hypervitaminosis A after elexacaftor/tezacaftor/ivacaftor for cystic fibrosis. 62
34058144 2022
15
[The development of portal hypertension and liver failure on the background of long-term intake of vitamin A in a young woman. Case report]. 62
36286747 2022
16
Prevalence of vitamin A deficiency and dietary inadequacy in Indian school-age children and adolescents. 62
34251518 2022
17
Liver Damage and Exposure to Toxic Concentrations of Endogenous Retinoids in the Pathogenesis of COVID-19 Disease: Hypothesis. 62
33983857 2021
18
CFTR Modulator Therapy with Lumacaftor/Ivacaftor Alters Plasma Concentrations of Lipid-Soluble Vitamins A and E in Patients with Cystic Fibrosis. 62
33808590 2021
19
CT and MRI characteristics of presumptive hypervitaminosis A in a cat. 62
33796325 2021
20
Adequate vitamin A liver stores estimated by the modified relative dose response test are positively associated with breastfeeding but not vitamin A supplementation in Senegalese urban children 9-23 months old: A comparative cross-sectional study. 62
33513162 2021
21
Hypervitaminosis A Following the Ingestion of Fish Liver: Report on 3 Cases from the Poison Control Center in Marseille. 62
32861618 2020
22
Multiple Vaccinations and the Enigma of Vaccine Injury. 62
33198395 2020
23
Hypervitaminosis A is associated with immunological non-response in HIV-1-infected adults: a case-control study. 62
32607910 2020
24
Hypercalcemia from hypervitaminosis A in a child with autism. 62
32658863 2020
25
Myositis, rhabdomyolysis and severe hypercalcaemia in a body builder. 62
32698126 2020
26
Liver toxicity from vitamin A. 62
32280780 2020
27
Vitamin A administration in lizards during tail regeneration determines epithelial mucogenesis and delays muscle and cartilage differentiation. 62
31631512 2020
28
The Antagonist of Retinoic Acid Receptor α, ER-50891 Antagonizes the Inhibitive Effect of All-Trans Retinoic Acid and Rescues Bone Morphogenetic Protein 2-Induced Osteoblastogenic Differentiation. 62
32158187 2020
29
Is it time for South Africa to end the routine high-dose vitamin A supplementation programme? 62
31865950 2019
30
Rubella Virus Infection, the Congenital Rubella Syndrome, and the Link to Autism. 62
31546693 2019
31
South African preschool children habitually consuming sheep liver and exposed to vitamin A supplementation and fortification have hypervitaminotic A liver stores: a cohort study. 62
31089689 2019
32
Overlapping vitamin A interventions in the United States, Guatemala, Zambia, and South Africa: case studies. 62
30265402 2019
33
Correction osteotomy for bilateral varus knee deformity caused by premature epiphyseal closure induced by hypervitaminosis A: a case report. 62
31202274 2019
34
Restricting vitamin A intake increases bone formation in Zambian children with high liver stores of vitamin. 62
31254130 2019
35
Retinol isotope dilution accurately predicts liver reserves in piglets but overestimates reserves in lactating sows. 62
30889962 2019
36
Vitamin A decreases the anabolic bone response to mechanical loading by suppressing bone formation. 62
30668919 2019
37
Gulf War Illness: Unifying Hypothesis for a Continuing Health Problem. 62
30609834 2019
38
Spectrum of Voriconazole-Induced Periostitis With Review of the Differential Diagnosis. 62
30403528 2019
39
The Need to Consider Context in the Evaluation of Anti-infectious and Immunomodulatory Effects of Vitamin A and its Derivatives. 62
30556501 2019
40
Acute hypervitaminosis A misdiagnosed as malaria in a 7-year-old Nigerian boy. 62
31372061 2019
41
Liver Cirrhosis From Chronic Hypervitaminosis A Resulting in Liver Transplantation: A Case Report. 62
30655144 2019
42
Bones in human CYP26B1 deficiency and rats with hypervitaminosis A phenocopy Vegfa overexpression. 62
30003121 2018
43
Effects of retinoids on physiologic and inflammatory osteoclastogenesis in vitro. 62
30059166 2018
44
Serum retinyl esters are positively correlated with analyzed total liver vitamin A reserves collected from US adults at time of death. 62
30475970 2018
45
Hepatic Vitamin A Concentrations in Vervets (Chlorocebus aethiops) Supplemented with Carotenoids Derived from Oil Palm. 62
30021671 2018
46
Studies of indirect and direct effects of hypervitaminosis A on rat bone by comparing free access to food and pair-feeding. 62
29697007 2018
47
Acute fish liver intoxication induced blisters formation and generalized skin peeling. 62
28841060 2018
48
Malaria, Epstein-Barr virus infection and the pathogenesis of Burkitt's lymphoma. 62
28707393 2017
49
Identification of potential target genes and related regulatory transcription factors in spontaneous hairline fracture induced by hypervitaminosis A. 62
28511966 2017
50
IMPACT OF ATRA ON OVALBUMIN AND MOLD-SENSITIZED F344 RATS AND REVERSAL OF HEALTH-RELATED IMPLICATIONS BY CITRAL. 62
29033473 2017

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 18)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.58 TTR STRA6 RBP4 RBP1 LRAT CYP26B1
2
Show member pathways
13.57 BCO1 CYP26A1 CYP26B1 LRAT RARS1 RBP1
3
Show member pathways
13.17 TTR STRA6 RBP4 RBP2 RBP1 LRAT
4
Show member pathways
12.77 CYP26B1 CYP26A1 CRABP2 CRABP1 CDKN1B
5
Show member pathways
12.51 TTR RBP4 RBP2 RBP1 LRAT BCO1
6
Show member pathways
12.24 TTR STRA6 RBP4 RBP2 RBP1 LRAT
7 11.85 CYP26B1 CYP26A1 CDKN1A
8 11.63 RBP1 CDKN1B CDKN1A
9
Show member pathways
11.49 LRAT RBP1 RBP4 STRA6 TTR
10
Show member pathways
11.44 CYP26B1 CYP26A1 CRABP2 CRABP1
11 11.42 RBP2 CDKN1B CDKN1A
12 11.41 TTR RBP4 RBP1 LRAT CDKN1B CDKN1A
13
Show member pathways
11.23 LRAT CRABP1 BCO1
14 11.05 CDKN1B CDKN1A
15 10.9 RBP4 RBP2 RBP1 LRAT CYP26B1 CYP26A1
16 10.82 LRAT BCO1
17 10.36 RBP4 RBP1
18
Show member pathways
10.03 RBP4 RBP1

GO Terms for Hypervitaminosis a

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 10.15 STRA6 RBP4 CDKN1B CDKN1A
2 fatty acid transport GO:0015908 9.97 RBP2 RBP1 CRABP2 CRABP1
3 vitamin A metabolic process GO:0006776 9.88 LRAT RBP1 RBP2
4 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest GO:0006977 9.87 CDKN1B CDKN1A
5 regulation of cell cycle G1/S phase transition GO:1902806 9.84 CDKN1B CDKN1A
6 negative regulation of retinoic acid receptor signaling pathway GO:0048387 9.83 CYP26B1 CYP26A1
7 vitamin metabolic process GO:0006766 9.81 CYP26A1 CYP26B1
8 retinoic acid biosynthetic process GO:0002138 9.8 RBP1 CRABP2
9 retinoic acid catabolic process GO:0034653 9.8 CYP26B1 CYP26A1 CRABP1
10 negative regulation of cyclin-dependent protein kinase activity GO:1904030 9.78 CDKN1B CDKN1A
11 retinol transport GO:0034633 9.76 STRA6 RBP4
12 negative regulation of cardiac muscle tissue regeneration GO:1905179 9.73 CDKN1B CDKN1A
13 retinoic acid metabolic process GO:0042573 9.73 RBP1 CYP26B1 CYP26A1 CRABP2
14 response to vitamin A GO:0033189 9.7 CYP26A1 CYP26B1 LRAT RBP1
15 retinol metabolic process GO:0042572 9.61 TTR RBP4 RBP1 LRAT BCO1
16 regulation of macromolecule metabolic process GO:0060255 9.56 CDKN1B CDKN1A
17 response to retinoic acid GO:0032526 9.32 STRA6 RBP4 RBP1 LRAT 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 retinoic acid binding GO:0001972 9.96 CRABP1 CRABP2 CYP26A1 CYP26B1 LRAT
2 fatty acid binding GO:0005504 9.92 RBP2 RBP1 CRABP2 CRABP1
3 cyclin binding GO:0030332 9.88 CRABP2 CDKN1B CDKN1A
4 retinoid binding GO:0005501 9.81 RBP4 RBP2 RBP1 CRABP2 CRABP1
5 lipid binding GO:0008289 9.8 RBP2 RBP1 CRABP2 CRABP1
6 cyclin-dependent protein serine/threonine kinase inhibitor activity GO:0004861 9.78 CDKN1B CDKN1A
7 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 9.76 CYP26B1 CYP26A1
8 retinoic acid 4-hydroxylase activity GO:0008401 9.73 CYP26B1 CYP26A1
9 retinal binding GO:0016918 9.73 STRA6 RBP4 RBP2 RBP1 CRABP2 CRABP1
10 retinol transmembrane transporter activity GO:0034632 9.67 STRA6 RBP4
11 retinol binding GO:0019841 9.44 STRA6 RBP4 RBP2 RBP1 LRAT CRABP2

Sources for Hypervitaminosis a

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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