HCVAD
MCID: HYP276
MIFTS: 56

Hypercarotenemia and Vitamin a Deficiency, Autosomal Dominant (HCVAD)

Categories: Genetic diseases, Metabolic diseases

Aliases & Classifications for Hypercarotenemia and Vitamin a Deficiency, Autosomal Dominant

MalaCards integrated aliases for Hypercarotenemia and Vitamin a Deficiency, Autosomal Dominant:

Name: Hypercarotenemia and Vitamin a Deficiency, Autosomal Dominant 58 76 30 13 6 41
Vitamin a Deficiency 45 74
Hcvad 58 76
Hypercarotenemia and Hypovitaminosis a 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
hypercarotenemia and vitamin a deficiency, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 115300
MeSH 45 D014802
ICD10 34 E50
UMLS 74 C0042842

Summaries for Hypercarotenemia and Vitamin a Deficiency, Autosomal Dominant

UniProtKB/Swiss-Prot : 76 Hypercarotenemia and vitamin A deficiency, autosomal dominant: A disorder characterized by increased serum beta-carotene, decreased conversion of beta-carotene to vitamin A and decreased serum vitamin A.

MalaCards based summary : Hypercarotenemia and Vitamin a Deficiency, Autosomal Dominant, also known as vitamin a deficiency, is related to keratomalacia and hypervitaminosis a. An important gene associated with Hypercarotenemia and Vitamin a Deficiency, Autosomal Dominant is BCO1 (Beta-Carotene Oxygenase 1), and among its related pathways/superpathways are Signaling by GPCR and Metabolism. The drugs Prednisolone phosphate and Prednisolone have been mentioned in the context of this disorder. Affiliated tissues include liver, eye and lung, and related phenotypes are abnormality of the skin and vitamin a deficiency

Description from OMIM: 115300

Related Diseases for Hypercarotenemia and Vitamin a Deficiency, Autosomal Dominant

Diseases related to Hypercarotenemia and Vitamin a Deficiency, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 120)
# Related Disease Score Top Affiliating Genes
1 keratomalacia 33.6 TTR RBP4
2 hypervitaminosis a 29.2 TTR RBP4 RARS
3 hereditary hypercarotenemia and vitamin a deficiency 12.4
4 hypercarotenemia and vitamin a deficiency, autosomal recessive 12.3
5 xerophthalmia 11.6
6 night blindness 11.3
7 pagod syndrome 11.2
8 microphthalmia 11.2
9 acquired night blindness 11.2
10 acute motor and sensory axonal neuropathy 11.1
11 corneal ulcer 10.9
12 darier-white disease 10.6
13 b-cell lymphomas 10.2
14 diffuse large b-cell lymphoma 10.2
15 lymphoma 10.2
16 diarrhea 10.2
17 cystic fibrosis 10.1
18 iron metabolism disease 10.1
19 newcastle disease 10.1
20 leukemia 10.1
21 myeloid leukemia 10.1
22 yemenite deaf-blind hypopigmentation syndrome 10.0
23 human immunodeficiency virus type 1 10.0
24 malaria 10.0
25 protein-energy malnutrition 10.0
26 hepatitis 9.9
27 tetanus 9.9
28 influenza 9.9
29 measles 9.9
30 pulmonary alveolar microlithiasis 9.8
31 retinitis pigmentosa 9.8
32 hepatitis c virus 9.8
33 deficiency anemia 9.8
34 crohn's disease 9.8
35 liver disease 9.8
36 hypothyroidism 9.8
37 hepatitis c 9.8
38 small cell cancer of the lung 9.8
39 lung cancer 9.8
40 asthma 9.8
41 leber congenital amaurosis 4 9.8
42 gastric cancer 9.8
43 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.8
44 hydrocephalus 9.8
45 liver cirrhosis 9.8
46 colitis 9.8
47 trachoma 9.8
48 goiter 9.8
49 kwashiorkor 9.8
50 adenocarcinoma 9.8

Graphical network of the top 20 diseases related to Hypercarotenemia and Vitamin a Deficiency, Autosomal Dominant:



Diseases related to Hypercarotenemia and Vitamin a Deficiency, Autosomal Dominant

Symptoms & Phenotypes for Hypercarotenemia and Vitamin a Deficiency, Autosomal Dominant

Human phenotypes related to Hypercarotenemia and Vitamin a Deficiency, Autosomal Dominant:

33
# Description HPO Frequency HPO Source Accession
1 abnormality of the skin 33 HP:0000951
2 vitamin a deficiency 33 HP:0004905

Symptoms via clinical synopsis from OMIM:

58
Skin Nails Hair Skin:
yellow-orange colored skin

Laboratory Abnormalities:
increased serum beta-carotene
decreased serum vitamin a
decreased conversion of beta-carotene to vitamin a (retinol)

Clinical features from OMIM:

115300

GenomeRNAi Phenotypes related to Hypercarotenemia and Vitamin a Deficiency, Autosomal Dominant according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Negative genetic interaction between PTTG1-/- and PTTG1+/+ GR00255-A-4 9.26 CYP26A1 LRAT PCK2 TTR
2 Reduced mammosphere formation GR00396-S 9.02 BCO1 RARA RARB RBP4 TTR

MGI Mouse Phenotypes related to Hypercarotenemia and Vitamin a Deficiency, Autosomal Dominant:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.65 CYP26A1 RARA RARB RBP4 TTR
2 limbs/digits/tail MP:0005371 9.46 CYP26A1 RARA RARB RBP4
3 renal/urinary system MP:0005367 9.35 CYP26A1 RARA RARB RBP4 TTR
4 vision/eye MP:0005391 9.02 LRAT RARA RARB RBP4 TTR

Drugs & Therapeutics for Hypercarotenemia and Vitamin a Deficiency, Autosomal Dominant

Drugs for Hypercarotenemia and Vitamin a Deficiency, Autosomal Dominant (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 100)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
2
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
3
Racepinephrine Approved Phase 4 329-65-7 838
4
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
5
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
6
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
7
Albendazole Approved, Vet_approved Phase 4 54965-21-8 2082
8
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable,Early Phase 1 22737-96-8, 68-26-8, 11103-57-4 9904001 445354
9
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
10 Antioxidants Phase 4,Phase 3,Phase 2,Not Applicable,Early Phase 1
11 Peripheral Nervous System Agents Phase 4,Phase 2
12 Anti-Inflammatory Agents Phase 4,Phase 2
13 Retinol palmitate Phase 4,Phase 3,Phase 2,Not Applicable,Early Phase 1
14 Hormones Phase 4,Phase 2,Not Applicable
15 Nutrients Phase 4,Phase 3,Phase 2,Not Applicable,Early Phase 1
16 Autonomic Agents Phase 4,Phase 2
17 retinol Phase 4,Phase 3,Phase 2,Not Applicable,Early Phase 1
18 Trace Elements Phase 4,Phase 3,Phase 2,Not Applicable,Early Phase 1
19 Vitamins Phase 4,Phase 3,Phase 2,Not Applicable,Early Phase 1
20 Antineoplastic Agents, Hormonal Phase 4,Phase 2
21 Hormone Antagonists Phase 4,Phase 2
22 Micronutrients Phase 4,Phase 3,Phase 2,Not Applicable,Early Phase 1
23 Antiemetics Phase 4,Phase 2
24 Gastrointestinal Agents Phase 4,Phase 2
25 glucocorticoids Phase 4,Phase 2
26 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2
27 Protective Agents Phase 4,Phase 3,Phase 2,Not Applicable,Early Phase 1
28 Prednisolone acetate Phase 4
29 Epinephryl borate Phase 4
30 Methylprednisolone Acetate Phase 4
31 Neuroprotective Agents Phase 4
32 Antiprotozoal Agents Phase 4
33 Antimitotic Agents Phase 4
34 Antiparasitic Agents Phase 4
35 Anti-Infective Agents Phase 4,Not Applicable
36 Anthelmintics Phase 4,Not Applicable
37
Tocopherol Approved, Investigational Phase 2, Phase 3,Phase 3,Not Applicable 1406-66-2 14986
38
Iron Approved, Experimental Phase 2, Phase 3,Phase 3,Not Applicable,Early Phase 1 7439-89-6, 15438-31-0 23925 27284
39 Orange Approved Phase 3,Not Applicable
40
leucovorin Approved Phase 3,Not Applicable 58-05-9 6006 143
41
Ferrous fumarate Approved Phase 3 141-01-5
42
Beta carotene Approved, Nutraceutical Phase 3,Phase 2,Not Applicable 7235-40-7
43
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2, Phase 3,Phase 3,Not Applicable 59-02-9 14985
44
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3,Not Applicable 59-30-3 6037
45
Vitamin D Approved, Nutraceutical, Vet_approved Phase 3,Not Applicable 1406-16-2
46 Tocotrienol Investigational Phase 2, Phase 3,Phase 3,Not Applicable 6829-55-6
47 Vaccines Phase 2, Phase 3,Not Applicable
48 Carotenoids Phase 3,Phase 2,Not Applicable
49 Provitamins Phase 3,Phase 2,Not Applicable
50 Tocopherols Phase 2, Phase 3,Phase 3,Not Applicable

Interventional clinical trials:

(show top 50) (show all 75)
# Name Status NCT ID Phase Drugs
1 Adrenal Cortical Function and Vitamin A Deficiency in Sepsis Completed NCT03152474 Phase 4 Solumedrol 20mg;Vitamin A 100,000 IU
2 Deworming and Enhanced Vitamin A Every 6 Month in Rural Indian Children Aged 1-6 Completed NCT00222547 Phase 4 Vitamin A;Albendazole
3 Vitamin A and Very Low Birthweight Babies (VitAL) Completed NCT00417404 Phase 4 Aquasol A;aquasol A
4 Efficacy of β-carotene Biofortified Maize in Reducing Vitamin A Deficiency Among Children Completed NCT01695148 Phase 3
5 Impact of Maternal Supplementation With Dual Megadose of Vitamin A Completed NCT00742937 Phase 2, Phase 3
6 Efficacy of Biofortified Maize to Improve Maternal and Infant Vitamin A Status Completed NCT02804490 Phase 3
7 Stopping Postpartum Vitamin A Supplementation: Missing Concealed Benefit Completed NCT02043223 Phase 2, Phase 3
8 Community Trial of Newborn Vitamin A Supplementation to Reduce Infant Mortality in Rural Bangladesh Terminated NCT00128557 Phase 3 vitamin A supplementation (50,000 IU)
9 Trial of the Impact of Vitamin A on Maternal Mortality Completed NCT00211341 Phase 3
10 Impact of Maternal Vitamin A or Beta-Carotene Supplementation on Maternal and Infant Mortality in Bangladesh Completed NCT00198822 Phase 3
11 Sub-clinical Inflammation and Iron Supplementation Completed NCT01198574 Phase 3
12 Effects of Fat-soluble Vitamins Supplementation on Common Complications and Neural Development in Very Low Birth Weight Infants Recruiting NCT03876704 Phase 3 High dose of fat-Soluble Vitamin;Conventional dose of fat-Soluble Vitamin
13 Effect of Vitamin A Supplementation on Immune Responses in Human Neonates Unknown status NCT01476358 Phase 2
14 Intravitreal Dexamethasone Implant in Retinitis Pigmentosa-related Macular Edema- a Retrospective Study Unknown status NCT02804360 Phase 2
15 Vitamin A Absorption From Cassava in Women Completed NCT01381276 Phase 2
16 Vitamin A Equivalence of Plant Carotenoids in Children Completed NCT00680212 Phase 2
17 Vitamin A to Reduce HIV in Vaginal Secretions and Prevent Viral Transmission Completed NCT00053612 Phase 2 Vitamin A
18 Single-dose Postpartum Vitamin A Supplementation of Mothers and Neonates Active, not recruiting NCT00198718 Phase 2 Vitamin A (retinyl palmitate)
19 Gene Therapy for Gyrate Atrophy Completed NCT00001735 Phase 1
20 Evaluation of Safety of Ciliary Neurotrophic Factor Implants in the Eye Completed NCT00063765 Phase 1 Ciliary Neurotrophic Factor Implant NT-501
21 Vitamin A Supplementation in Preterm Infants Unknown status NCT00063596 Not Applicable Vitamin A supplementation
22 The Role of Multivitamins in Pediatric HIV Management in Nigeria Unknown status NCT02552602 Not Applicable
23 The Effects of Biscuits Containing Red Palm Oil on School Children With Vitamin A Deficiency in West and East Malaysia Recruiting NCT03256123 Not Applicable
24 Treatment of Congenital Stationary Night Blindness With an Alga Containing High Dose of Beta Carotene Completed NCT00569023 Not Applicable
25 Using Stable Isotope Techniques to Monitor and Assess the Vitamin A Status of Children Susceptible to Infection Completed NCT02363985 Not Applicable
26 Efficacy of Vitamin A in Fortified Extruded Rice in School Children Completed NCT01199445 Early Phase 1
27 Efficacy of Newborn Vitamin A Supplementation in Improving Immune Function Completed NCT01583972 Not Applicable
28 Newborn Vitamin A (VA) Supplementation Pilot Project, Pakistan Completed NCT00674089 Not Applicable
29 Dietary Vitamin A Requirement in Chinese Children and the New Technology of Dietary Assessment Completed NCT01559766
30 Vitamin A, Stool Microbiota and Vaccine Response in Bangladeshi Infants Completed NCT02027610
31 An Efficacy Trial of Iron, Zinc and Vitamin A Fortified Rice in Children in Satun, Thailand Completed NCT01061307 Early Phase 1
32 Retinol Equivalence of Plant Carotenoids in Children Completed NCT00082420
33 Vitamin A Liver Reserves and Serum Markers of Vitamin A in US Adults at Time of Death Completed NCT03305042
34 The Efficacy of Pro-vitamin A Biofortified Cassava on Vitamin A Status in Nigerian Preschool Children Completed NCT02627222 Not Applicable
35 Efficacy of Yellow Cassava to Improve Vitamin A Status of Kenyan School Children Completed NCT01614483 Not Applicable
36 Using Stable Isotopes to Assess the Effectiveness of Vitamin A Supplementation in Cameroon Completed NCT03383744 Not Applicable
37 Vitamin A Equivalence of the Provitamin A in Biofortified Bananas Completed NCT02702622 Not Applicable
38 Sub Regional Micronutrient Survey in Ethiopia Not yet recruiting NCT03353662
39 Beta-carotene Absorption and Bioconversion to Vitamin A From Biofortified Cassava Gari Completed NCT02210507 Not Applicable
40 Effect of Daily Consumption of Orange Maize on Breast Milk Retinol in Lactating Zambian Women Completed NCT01922713 Not Applicable
41 Vitamin A Bioavailability in Lactating Women With Marginal Vitamin A Status Completed NCT01420406 Not Applicable
42 Impact of Consumption of Orange-fleshed Sweet Potatoes on the Vitamin A Status of Bangladeshi Women of Reproductive Age Completed NCT00453648 Not Applicable
43 DS vs SIPS-Bariatric Surgery Comparasion Recruiting NCT03236142 Not Applicable
44 Effect of SNPs in the BCMO1 Enzyme Completed NCT02276014 Not Applicable
45 Micronutrient Status During Pregnancy Active, not recruiting NCT03272022
46 Nutritional Outcomes After Vitamin A Supplementation in Subjects With SCD Completed NCT03632876 Not Applicable
47 Evaluation of a Night Spectacle Correction Concerning an Improvement of Mesopic Vision Quality Completed NCT02965534 Not Applicable
48 Effects of EED on Zn Absorption and Retention in Children From a Standard Dose Active, not recruiting NCT02760095 3 mg zinc sulfate supplement;0.5 mg of 13C10-retinyl-acetate
49 Visual Activity Evoked by Infrared in Humans After Dark Adaptation Completed NCT02909985 Not Applicable
50 Effect Of A Biofortified Food Basket On Micronutrient Status And Immune And Cognitive Function Among Infants In India Recruiting NCT02648893 Not Applicable

Search NIH Clinical Center for Hypercarotenemia and Vitamin a Deficiency, Autosomal Dominant

Inferred drug relations via UMLS 74 / NDF-RT 52 :


Cochrane evidence based reviews: vitamin a deficiency

Genetic Tests for Hypercarotenemia and Vitamin a Deficiency, Autosomal Dominant

Genetic tests related to Hypercarotenemia and Vitamin a Deficiency, Autosomal Dominant:

# Genetic test Affiliating Genes
1 Hypercarotenemia and Vitamin a Deficiency, Autosomal Dominant 30 BCO1

Anatomical Context for Hypercarotenemia and Vitamin a Deficiency, Autosomal Dominant

MalaCards organs/tissues related to Hypercarotenemia and Vitamin a Deficiency, Autosomal Dominant:

42
Liver, Eye, Lung, Testes, Skin, Bone, Breast

Publications for Hypercarotenemia and Vitamin a Deficiency, Autosomal Dominant

Articles related to Hypercarotenemia and Vitamin a Deficiency, Autosomal Dominant:

(show top 50) (show all 1224)
# Title Authors Year
1
Zinc and Vitamin A Deficiency in a Cohort of Children with Autism Spectrum Disorder. ( 30821006 )
2019
2
Vitamin A deficiency and associated factors in preschoolers from the outskirts of La Plata, Buenos Aires. ( 30652442 )
2019
3
Vitamin A deficiency impairs intestinal physical barrier function of fish. ( 30716522 )
2019
4
Provitamin A Carotenoids in Grain Reduce Aflatoxin Contamination of Maize While Combating Vitamin A Deficiency. ( 30778360 )
2019
5
Unusual manifestation of vitamin A deficiency presenting with generalized xerosis without night blindness. ( 29744078 )
2018
6
Four years after implementation of a national micronutrient powder program in Kyrgyzstan, prevalence of iron deficiency and iron deficiency anemia is lower, but prevalence of vitamin A deficiency is higher. ( 30523305 )
2018
7
Comparability of Inflammation-Adjusted Vitamin A Deficiency Estimates and Variance in Retinol Explained by C-Reactive Protein and α1-Acid Glycoprotein during Low and High Malaria Transmission Seasons in Rural Zambian Children. ( 29165226 )
2018
8
Night Blindness, Bitot's Spot & Vitamin A Deficiency. ( 30265370 )
2018
9
Vitamin A deficiency among under-five Nigerian children with diarrhoea. ( 30603007 )
2018
10
Effect of vitamin A deficiency on thymosin-β4 and CD4 concentrations. ( 30647705 )
2018
11
National control programme against nutritional blindness due to vitamin A deficiency: Current status & future strategy. ( 30666976 )
2018
12
Identification of Competing Endogenous RNA Regulatory Networks in Vitamin A Deficiency-Induced Congenital Scoliosis by Transcriptome Sequencing Analysis. ( 30110682 )
2018
13
Roux-en-Y Gastric Bypass Aggravates Vitamin A Deficiency in the Mother-Child Group. ( 28676956 )
2018
14
Discovery and biological relevance of 3,4-didehydroretinol (vitamin A2) in small indigenous fish species and its potential as a dietary source for addressing vitamin A deficiency. ( 28776449 )
2018
15
Conjunctival xerosis caused by vitamin A deficiency. ( 28939634 )
2018
16
Hormonal contraceptive use and vitamin A deficiency among women in Tanzania. ( 29159927 )
2018
17
Vitamin A deficiency in mice alters host and gut microbial metabolism leading to altered energy homeostasis. ( 29227833 )
2018
18
Vitamin A Deficiency Induces Autistic-Like Behaviors in Rats by Regulating the RARβ-CD38-Oxytocin Axis in the Hypothalamus. ( 29266770 )
2018
19
Wood's lamp examination: a novel diagnostic approach to detect Bitot's spots in vitamin A deficiency. ( 29327494 )
2018
20
Vitamin A deficiency induces endoplasmic reticulum stress and apoptosis in pancreatic islet cells: Implications of stearoyl-CoA desaturase 1-mediated oleic acid synthesis. ( 29409806 )
2018
21
REVERSIBLE NYCTALOPIA ASSOCIATED WITH VITAMIN A DEFICIENCY AFTER RESECTED MALIGNANT ILEAL CARCINOID AND PANCREATIC ADENOCARCINOMA. ( 29554055 )
2018
22
Vitamin A Deficiency Due to Selective Eating as a Cause of Blindness in a High-Income Setting. ( 29610168 )
2018
23
VITAMIN A DEFICIENCY IN BRAZILIAN CHILDREN AND ASSOCIATED VARIABLES. ( 29617474 )
2018
24
Prevalence of Vitamin A deficiency among under-five children in South-Western Nigeria. ( 29676339 )
2018
25
Developing a Model of Vitamin A Deficiency in a Hibernating Mammal, the 13-Lined Ground Squirrel (Ictidomys tridecemlineatus). ( 29801522 )
2018
26
β-apo-10'-carotenoids support normal embryonic development during vitamin A deficiency. ( 29892071 )
2018
27
Recent advances in banana (musa spp.) biofortification to alleviate vitamin A deficiency. ( 29999424 )
2018
28
Vitamin A Deficiency and the Lung. ( 30134568 )
2018
29
The Prevalence of Vitamin A Deficiency and Associated Factors in Pregnant Women Receiving Prenatal Care at a Reference Maternity Hospital in Northeastern Brazil. ( 30205601 )
2018
30
Vitamin A deficiency is associated with body mass index and body adiposity in women with recommended intake of vitamin A. ( 30307289 )
2018
31
Marginal Vitamin A Deficiency Affects the Expression Levels and Localization of Retinoic Acid Receptor and Retinoid X Receptor in Rats Meibomian Gland. ( 30512978 )
2018
32
Xerosis in Patient with Vitamin A Deficiency - a Case Report. ( 30541304 )
2018
33
Vitamin A deficiency due to bi-allelic mutation of RBP4: There's more to it than meets the eye. ( 27892788 )
2017
34
Serum retinol in post-partum mothers and newborns from an impoverished South African community where liver is frequently eaten and vitamin A deficiency is absent. ( 26564246 )
2017
35
The vicious cycle of vitamin a deficiency: A review. ( 27128154 )
2017
36
Vitamin A deficiency and determinants of vitamin A status in Bangladeshi children and women: findings of a national survey. ( 27890019 )
2017
37
Marginal Vitamin A Deficiency Exacerbates Memory Deficits Following Aβ1-42 Injection in Rats. ( 28017127 )
2017
38
Vitamin A deficiency suppresses fish immune function with differences in different intestinal segments: the role of transcriptional factor NF-κB and p38 mitogen-activated protein kinase signalling pathways. ( 28098047 )
2017
39
Marginal vitamin A deficiency facilitates Alzheimer's pathogenesis. ( 28130638 )
2017
40
Vitamin A Supplementation Programs and Country-Level Evidence of Vitamin A Deficiency. ( 28245571 )
2017
41
We Need Studies of the Mortality Effect of Vitamin A Supplementation, Not Surveys of Vitamin A Deficiency. ( 28294986 )
2017
42
Vitamin A deficiency in chronic cholestatic liver disease: Is vitamin A therapy beneficial? ( 28371374 )
2017
43
Vitamin A deficiency due to chronic malabsorption: an ophthalmic manifestation of a systemic condition. ( 28490481 )
2017
44
The change in retinoic acid receptor signaling induced by prenatal marginal vitamin A deficiency and its effects on learning and memory. ( 28570942 )
2017
45
Burden of disease attributable to vitamin A deficiency in Iranian population aged less than five years: findings from the global burden of disease study 2010. ( 28808642 )
2017
46
Correction: Vitamin A deficiency due to chronic malabsorption: an ophthalmic manifestation of a systemic condition. ( 28847769 )
2017
47
Tackling vitamin A deficiency with biofortified sweetpotato in sub-Saharan Africa. ( 28989861 )
2017
48
Prevnar-13 vaccine failure in a mouse model for vitamin A deficiency. ( 29032897 )
2017
49
The Effect of Red Palm Oil on Vitamin A Deficiency: A Meta-Analysis of Randomized Controlled Trials. ( 29186779 )
2017
50
The Prevalence of Vitamin A Deficiency in Chinese Children: A Systematic Review and Bayesian Meta-Analysis. ( 29186832 )
2017

Variations for Hypercarotenemia and Vitamin a Deficiency, Autosomal Dominant

UniProtKB/Swiss-Prot genetic disease variations for Hypercarotenemia and Vitamin a Deficiency, Autosomal Dominant:

76
# Symbol AA change Variation ID SNP ID
1 BCO1 p.Thr170Met VAR_058112 rs119478057

ClinVar genetic disease variations for Hypercarotenemia and Vitamin a Deficiency, Autosomal Dominant:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 BCO1 NM_017429.2(BCO1): c.509C> T (p.Thr170Met) single nucleotide variant Pathogenic rs119478057 GRCh37 Chromosome 16, 81298282: 81298282
2 BCO1 NM_017429.2(BCO1): c.509C> T (p.Thr170Met) single nucleotide variant Pathogenic rs119478057 GRCh38 Chromosome 16, 81264677: 81264677

Expression for Hypercarotenemia and Vitamin a Deficiency, Autosomal Dominant

Search GEO for disease gene expression data for Hypercarotenemia and Vitamin a Deficiency, Autosomal Dominant.

Pathways for Hypercarotenemia and Vitamin a Deficiency, Autosomal Dominant

Pathways related to Hypercarotenemia and Vitamin a Deficiency, Autosomal Dominant according to GeneCards Suite gene sharing:

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.75 BCO1 CYP26A1 LRAT RARA RARB RBP4
2
Show member pathways
13.65 BCO1 CYP26A1 LRAT PCK2 RARS RBP4
3
Show member pathways
12.28 BCO1 LRAT RBP4 TTR
4
Show member pathways
11.79 BCO1 LRAT RBP4 TTR
5 11.75 CYP26A1 PCK2 RARA
6 11.55 LRAT RBP4 TTR
7
Show member pathways
11.32 CYP26A1 RARA RARB
8
Show member pathways
11.17 LRAT RBP4 TTR
9 11.13 RARA RARB
10 10.97 LRAT RBP4 TTR
11 10.74 BCO1 CYP26A1 LRAT RARA RARB RBP4
12 10.68 CYP26A1 RARA RARB

GO Terms for Hypercarotenemia and Vitamin a Deficiency, Autosomal Dominant

Cellular components related to Hypercarotenemia and Vitamin a Deficiency, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II transcription factor complex GO:0090575 8.62 RARA RARB

Biological processes related to Hypercarotenemia and Vitamin a Deficiency, Autosomal Dominant according to GeneCards Suite gene sharing:

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 cellular response to retinoic acid GO:0071300 9.6 RARA RARB
2 bone development GO:0060348 9.59 RARA RARB
3 steroid hormone mediated signaling pathway GO:0043401 9.58 RARA RARB
4 hormone-mediated signaling pathway GO:0009755 9.58 RARA RARB
5 gluconeogenesis GO:0006094 9.57 PCK2 RBP4
6 ureteric bud development GO:0001657 9.56 RARA RARB
7 bone morphogenesis GO:0060349 9.55 RARA RARB
8 outflow tract septum morphogenesis GO:0003148 9.54 RARA RARB
9 regulation of myelination GO:0031641 9.52 RARA RARB
10 retinoic acid receptor signaling pathway GO:0048384 9.51 RARA RARB
11 response to lipid GO:0033993 9.5 PCK2 RARA RARB
12 growth plate cartilage development GO:0003417 9.49 RARA RARB
13 negative regulation of cartilage development GO:0061037 9.48 RARA RARB
14 epithelium development GO:0060429 9.46 RARA RARB
15 retinoid metabolic process GO:0001523 9.46 BCO1 LRAT RBP4 TTR
16 gland development GO:0048732 9.43 RARA RARB
17 response to vitamin A GO:0033189 9.43 CYP26A1 LRAT RARA
18 ventricular cardiac muscle cell differentiation GO:0055012 9.4 RARA RARB
19 glandular epithelial cell development GO:0002068 9.37 RARA RARB
20 retinol metabolic process GO:0042572 9.26 BCO1 LRAT RBP4 TTR
21 response to retinoic acid GO:0032526 9.02 CYP26A1 LRAT RARA RARB RBP4

Molecular functions related to Hypercarotenemia and Vitamin a Deficiency, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 drug binding GO:0008144 9.37 RARA RARB
2 nuclear receptor transcription coactivator activity GO:0030374 9.32 RARA RARB
3 steroid hormone receptor activity GO:0003707 9.26 RARA RARB
4 nuclear receptor activity GO:0004879 9.16 RARA RARB
5 retinol binding GO:0019841 8.96 LRAT RBP4
6 retinoic acid binding GO:0001972 8.8 CYP26A1 LRAT RARA

Sources for Hypercarotenemia and Vitamin a Deficiency, Autosomal Dominant

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
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