Aliases & Classifications for Hypervitaminosis a

MalaCards integrated aliases for Hypervitaminosis a:

Name: Hypervitaminosis a 57 12 74 54 44 15 17 71 32
Hypervitaminosis a, Susceptibility to 57

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive


HPO:

31
hypervitaminosis a:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:9972
OMIM® 57 240150
ICD9CM 34 278.2
MeSH 44 D006986
SNOMED-CT 67 64559002
ICD10 32 E67.0
MedGen 41 C1855883
UMLS 71 C0020579

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 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 Signaling by GPCR and Drug metabolism - cytochrome P450. The drugs Vitamin A and Trace Elements 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 : 74 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 96)
# Related Disease Score Top Affiliating Genes
1 keratomalacia 29.7 TTR RBP4 RARS1 LRAT CYP26A1
2 neural tube defects 28.3 CYP26B1 CYP26A1 CRABP2 CRABP1
3 cleft palate, isolated 10.4
4 intracranial hypertension 10.3
5 hyperostosis 10.3
6 acne 10.3
7 hydrocephalus 10.2
8 intracranial hypertension, idiopathic 10.2
9 kidney disease 10.2
10 chronic kidney disease 10.2
11 exencephaly 10.2
12 papilledema 10.1
13 caffey disease 10.1
14 cystic fibrosis 10.1
15 portal hypertension 10.1
16 spondylosis, cervical 10.0
17 anencephaly 10.0
18 autism 10.0
19 bone resorption disease 10.0
20 hydronephrosis 10.0
21 hyperparathyroidism 10.0
22 spondylosis 10.0
23 ankylosis 10.0
24 acute kidney failure 10.0
25 neuroblastoma 10.0
26 fatty liver disease 10.0
27 alopecia 10.0
28 hypervitaminosis d 10.0
29 du pan syndrome 9.9 CYP26B1 CYP26A1
30 atherosclerosis susceptibility 9.8
31 gastroesophageal reflux 9.8
32 alagille syndrome 1 9.8
33 fibrosis of extraocular muscles, congenital, 1 9.8
34 migraine with or without aura 1 9.8
35 varicose veins 9.8
36 hypoascorbemia 9.8
37 ocular motor apraxia 9.8
38 fryns microphthalmia syndrome 9.8
39 homocysteinemia 9.8
40 bulimia nervosa 9.8
41 malaria 9.8
42 deficiency anemia 9.8
43 hyperphosphatemia 9.8
44 brachydactyly 9.8
45 biotin deficiency 9.8
46 autism spectrum disorder 9.8
47 intestinal pseudo-obstruction 9.8
48 microphthalmia 9.8
49 meningocele 9.8
50 microcephaly 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 abnormality of the liver 31 HP:0001392
6 alopecia totalis 31 HP:0007418
7 papilledema 31 HP:0001085
8 lower limb pain 31 HP:0012514
9 nausea 31 HP:0002018
10 abnormality of the coagulation cascade 31 HP:0003256

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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 05-Mar-2021)

Symptoms:

12
  • hepatomegaly

MGI Mouse Phenotypes related to Hypervitaminosis a:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.01 CDKN1A CDKN1B CRABP2 CYP26A1 CYP26B1 RBP4
2 homeostasis/metabolism MP:0005376 9.96 BCO1 CDKN1A CDKN1B CRABP1 CYP26B1 LRAT
3 endocrine/exocrine gland MP:0005379 9.91 CDKN1A CDKN1B CRABP1 CYP26B1 LRAT RBP1
4 hearing/vestibular/ear MP:0005377 9.72 CDKN1A CDKN1B CRABP1 CRABP2 RBP1
5 no phenotypic analysis MP:0003012 9.63 CDKN1A CDKN1B CYP26A1 ISX STRA6 TTR
6 reproductive system MP:0005389 9.56 CDKN1A CDKN1B CRABP1 CYP26A1 CYP26B1 LRAT
7 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 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Vitamin A Approved, Nutraceutical, Vet_approved 68-26-8, 11103-57-4 445354
2 Trace Elements
3 Micronutrients
4 Nutrients
5 Liver Extracts
6 retinol
7 Retinol palmitate
8 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 Niveles de Retinol Hepatico y óseo en cadáveres de Adolescentes y Adultos Guatemaltecos (Liver and Bone Retinol Levels in Guatemalan Adolescents and Adults) Recruiting NCT04438200

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
Liver, Bone, Skin, Lung, Thyroid, Eye, Testes

Publications for Hypervitaminosis a

Articles related to Hypervitaminosis a:

(show top 50) (show all 745)
# Title Authors PMID Year
1
Severe hypervitaminosis A in siblings: evidence of variable tolerance to retinol intake. 61 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. 61 54
8664978 1996
4
Serum levels of vitamin A and retinol binding protein in chronic renal patients treated by continuous ambulatorial peritoneal dialysis. 61 54
1517032 1992
5
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. 61
33513162 2021
6
Hypervitaminosis A Following the Ingestion of Fish Liver: Report on 3 Cases from the Poison Control Center in Marseille. 61
32861618 2020
7
Hypervitaminosis A is associated with immunological non-response in HIV-1-infected adults: a case-control study. 61
32607910 2020
8
Multiple Vaccinations and the Enigma of Vaccine Injury. 61
33198395 2020
9
Myositis, rhabdomyolysis and severe hypercalcaemia in a body builder. 61
32698126 2020
10
Hypercalcemia from hypervitaminosis A in a child with autism. 61
32658863 2020
11
Liver toxicity from vitamin A. 61
32280780 2020
12
Vitamin A administration in lizards during tail regeneration determines epithelial mucogenesis and delays muscle and cartilage differentiation. 61
31631512 2020
13
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. 61
32158187 2020
14
Is it time for South Africa to end the routine high-dose vitamin A supplementation programme? 61
31865950 2019
15
Rubella Virus Infection, the Congenital Rubella Syndrome, and the Link to Autism. 61
31546693 2019
16
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
17
Overlapping vitamin A interventions in the United States, Guatemala, Zambia, and South Africa: case studies. 61
30265402 2019
18
Restricting vitamin A intake increases bone formation in Zambian children with high liver stores of vitamin. 61
31254130 2019
19
Correction osteotomy for bilateral varus knee deformity caused by premature epiphyseal closure induced by hypervitaminosis A: a case report. 61
31202274 2019
20
Retinol isotope dilution accurately predicts liver reserves in piglets but overestimates reserves in lactating sows. 61
30889962 2019
21
Vitamin A decreases the anabolic bone response to mechanical loading by suppressing bone formation. 61
30668919 2019
22
The Need to Consider Context in the Evaluation of Anti-infectious and Immunomodulatory Effects of Vitamin A and its Derivatives. 61
30556501 2019
23
Gulf War Illness: Unifying Hypothesis for a Continuing Health Problem. 61
30609834 2019
24
Spectrum of Voriconazole-Induced Periostitis With Review of the Differential Diagnosis. 61
30403528 2019
25
Liver Cirrhosis From Chronic Hypervitaminosis A Resulting in Liver Transplantation: A Case Report. 61
30655144 2019
26
Acute hypervitaminosis A misdiagnosed as malaria in a 7-year-old Nigerian boy. 61
31372061 2019
27
Bones in human CYP26B1 deficiency and rats with hypervitaminosis A phenocopy Vegfa overexpression. 61
30003121 2018
28
Effects of retinoids on physiologic and inflammatory osteoclastogenesis in vitro. 61
30059166 2018
29
Serum retinyl esters are positively correlated with analyzed total liver vitamin A reserves collected from US adults at time of death. 61
30475970 2018
30
Hepatic Vitamin A Concentrations in Vervets (Chlorocebus aethiops) Supplemented with Carotenoids Derived from Oil Palm. 61
30021671 2018
31
Studies of indirect and direct effects of hypervitaminosis A on rat bone by comparing free access to food and pair-feeding. 61
29697007 2018
32
Acute fish liver intoxication induced blisters formation and generalized skin peeling. 61
28841060 2018
33
Malaria, Epstein-Barr virus infection and the pathogenesis of Burkitt's lymphoma. 61
28707393 2017
34
Identification of potential target genes and related regulatory transcription factors in spontaneous hairline fracture induced by hypervitaminosis A. 61
28511966 2017
35
IMPACT OF ATRA ON OVALBUMIN AND MOLD-SENSITIZED F344 RATS AND REVERSAL OF HEALTH-RELATED IMPLICATIONS BY CITRAL. 61
29033473 2017
36
Vitamin A in pediatrics: An update from the Nutrition Committee of the French Society of Pediatrics. 61
28139365 2017
37
Excessive dietary intake of vitamin A reduces skull bone thickness in mice. 61
28426756 2017
38
Hypertrophic Osteoarthropathy: Clinical and Imaging Features. 61
27935768 2017
39
A baby with a lot of nerve. 61
26656927 2016
40
Assessing the Safety of Vitamin A Delivered Through Large-Scale Intervention Programs: Workshop Report on Setting the Research Agenda. 61
26893060 2016
41
Immediate effects of retinoic acid on gene expression in primary murine osteoblasts. 61
25956707 2016
42
Characterization of hypertrophic osteoarthropathy in an identified skeleton from Évora, Portugal, using combined and comparative morphology and microscopy. 61
29539516 2016
43
[MALABSORPTION FAT-SOLUBLE VITAMINS AND PROSPECTS OF THEIR USE IN LIVER DISEASES]. 61
30284430 2016
44
Pathogenesis of Zika Virus-Associated Embryopathy. 61
27403405 2016
45
Persistent behavioral effects following early life exposure to retinoic acid or valproic acid in zebrafish. 61
26439099 2016
46
Association of dietary consumption and serum levels of vitamin A and β-carotene with bone mineral density in Chinese adults. 61
26027509 2015
47
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
48
Comparisons among Equations Used for Retinol Isotope Dilution in the Assessment of Total Body Stores and Total Liver Reserves. 61
25809683 2015
49
[Idiopathic intracranial hypertension caused by dietary hypervitaminosis A]. 61
25088054 2015
50
Hypervitaminosis A is prevalent in children with CKD and contributes to hypercalcemia. 61
25119682 2015

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 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.88 TTR STRA6 RBP4 RBP1 LRAT CYP26B1
2
Show member pathways
12.58 LRAT CYP26B1 CYP26A1 CRABP1 BCO1
3
Show member pathways
12.44 TTR RBP4 RBP1 LRAT BCO1
4
Show member pathways
12.13 TTR STRA6 RBP4 RBP1 LRAT BCO1
5 11.81 CYP26B1 CYP26A1 CDKN1A
6 11.6 RBP1 CDKN1B CDKN1A
7
Show member pathways
11.49 CYP26B1 CYP26A1 CRABP2 CRABP1
8 11.41 TTR RBP4 RBP1 LRAT CDKN1B CDKN1A
9
Show member pathways
11.29 TTR STRA6 RBP4 RBP1 LRAT
10 10.87 RBP4 RBP1 LRAT CYP26B1 CYP26A1 CRABP2
11
Show member pathways
10.84 TTR STRA6 RBP4 RBP1
12
Show member pathways
10.61 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 20)
# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.83 STRA6 RBP4 CDKN1B CDKN1A
2 kidney development GO:0001822 9.75 STRA6 CYP26B1 CYP26A1
3 response to retinoic acid GO:0032526 9.67 RBP4 LRAT CYP26B1 CYP26A1
4 negative regulation of cyclin-dependent protein serine/threonine kinase activity GO:0045736 9.59 CDKN1B CDKN1A
5 sterol metabolic process GO:0016125 9.58 CYP26B1 CYP26A1
6 negative regulation of phosphorylation GO:0042326 9.57 CDKN1B CDKN1A
7 mitotic cell cycle arrest GO:0071850 9.56 CDKN1B CDKN1A
8 retinoic acid metabolic process GO:0042573 9.56 RBP1 CYP26B1 CYP26A1 CRABP2
9 regulation of cell cycle G1/S phase transition GO:1902806 9.55 CDKN1B CDKN1A
10 negative regulation of retinoic acid receptor signaling pathway GO:0048387 9.54 CYP26B1 CYP26A1
11 vitamin A metabolic process GO:0006776 9.51 RBP1 LRAT
12 retinoic acid catabolic process GO:0034653 9.5 CYP26B1 CYP26A1 CRABP1
13 vitamin metabolic process GO:0006766 9.49 CYP26B1 CYP26A1
14 regulation of retinoic acid receptor signaling pathway GO:0048385 9.48 CYP26B1 CRABP2
15 negative regulation of cyclin-dependent protein kinase activity GO:1904030 9.46 CDKN1B CDKN1A
16 response to vitamin A GO:0033189 9.46 RBP1 LRAT CYP26B1 CYP26A1
17 negative regulation of cardiac muscle tissue regeneration GO:1905179 9.43 CDKN1B CDKN1A
18 retinol transport GO:0034633 9.4 STRA6 RBP4
19 retinol metabolic process GO:0042572 9.35 TTR RBP4 RBP1 LRAT BCO1
20 retinoid metabolic process GO:0001523 9.1 TTR STRA6 RBP4 RBP1 LRAT BCO1

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

# Name GO ID Score Top Affiliating Genes
1 protein-containing complex binding GO:0044877 9.78 TTR RBP4 CDKN1B CDKN1A
2 retinoid binding GO:0005501 9.56 RBP4 RBP1 CRABP2 CRABP1
3 retinoic acid binding GO:0001972 9.55 LRAT CYP26B1 CYP26A1 CRABP2 CRABP1
4 cyclin binding GO:0030332 9.54 CRABP2 CDKN1B CDKN1A
5 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 9.46 CYP26B1 CYP26A1
6 cyclin-dependent protein serine/threonine kinase inhibitor activity GO:0004861 9.43 CDKN1B CDKN1A
7 retinoic acid 4-hydroxylase activity GO:0008401 9.4 CYP26B1 CYP26A1
8 retinal binding GO:0016918 9.35 STRA6 RBP4 RBP1 CRABP2 CRABP1
9 retinol transmembrane transporter activity GO:0034632 9.32 STRA6 RBP4
10 retinol binding GO:0019841 9.1 STRA6 RBP4 RBP1 LRAT CRABP2 CRABP1

Sources for Hypervitaminosis a

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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