HCVAD
MCID: HYP276
MIFTS: 53

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 56 73 29 13 6 39
Vitamin a Deficiency 43 17 71 32
Hcvad 56 73
Hypercarotenemia and Hypovitaminosis a 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
hypercarotenemia and vitamin a deficiency, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 56 115300
MeSH 43 D014802
UMLS 71 C0042842

Summaries for Hypercarotenemia and Vitamin a Deficiency, Autosomal Dominant

OMIM : 56 In hypercarotenemia and vitamin A deficiency (HCVAD), serum beta-carotene levels are very high, but serum vitamin A levels are low to low-normal. Yellow or orange discoloration of skin may be present (summary by Lindqvist et al., 2007). See also 277350 for possible autosomal recessive inheritance. (115300)

MalaCards based summary : Hypercarotenemia and Vitamin a Deficiency, Autosomal Dominant, also known as vitamin a deficiency, is related to keratomalacia and xerophthalmia. 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 Epinephrine and Methylprednisolone have been mentioned in the context of this disorder. Affiliated tissues include liver, eye and skin, and related phenotypes are abnormality of the skin and low levels of vitamin a

UniProtKB/Swiss-Prot : 73 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.

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 280)
# Related Disease Score Top Affiliating Genes
1 keratomalacia 33.4 RBP4 CYP26A1
2 xerophthalmia 32.2 TTR RARS1
3 protein-energy malnutrition 30.1 TTR RBP4
4 intracranial hypertension, idiopathic 29.3 RBP4 RARA
5 fundus albipunctatus 28.8 TTR LRAT
6 hypervitaminosis a 27.9 TTR RBP4 RARS1 RARA CYP26A1 BCO1
7 hereditary hypercarotenemia and vitamin a deficiency 12.5
8 hypercarotenemia and vitamin a deficiency, autosomal recessive 12.5
9 night blindness 11.5
10 corneal ulcer 11.4
11 pagod syndrome 11.3
12 retinal dystrophy, iris coloboma, and comedogenic acne syndrome 11.3
13 microphthalmia 11.3
14 acquired night blindness 11.3
15 yemenite deaf-blind hypopigmentation syndrome 10.7
16 darier-white disease 10.7
17 keratoconjunctivitis sicca 10.6
18 diarrhea 10.4
19 iron metabolism disease 10.3
20 diffuse large b-cell lymphoma 10.3
21 b-cell lymphoma 10.3
22 measles 10.3
23 deficiency anemia 10.3
24 leukemia, acute lymphoblastic 10.2
25 mantle cell lymphoma 10.2
26 lymphocytic leukemia 10.2
27 myeloid leukemia 10.2
28 keratitis, hereditary 10.1
29 cystic fibrosis 10.1
30 iron deficiency anemia 10.1
31 tetanus 10.1
32 keratosis 10.1
33 newcastle disease 10.1
34 human immunodeficiency virus type 1 10.0
35 autism 10.0
36 leptin deficiency or dysfunction 10.0
37 liver disease 10.0
38 liver cirrhosis 10.0
39 eye disease 10.0
40 immune deficiency disease 10.0
41 hypothyroidism 10.0
42 fundus dystrophy 10.0
43 herpes simplex 10.0
44 crohn's disease 10.0
45 alcohol dependence 9.9
46 otitis media 9.9
47 corneal disease 9.9
48 hydrocephalus 9.9
49 trachoma 9.9
50 goiter 9.9

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:

31
# Description HPO Frequency HPO Source Accession
1 abnormality of the skin 31 HP:0000951
2 low levels of vitamin a 31 HP:0004905

Symptoms via clinical synopsis from OMIM:

56
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:

26
# 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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.35 CYP26A1 RARA RARB RBP4 TTR
2 renal/urinary system MP:0005367 9.02 CYP26A1 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 113)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
2
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
3
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
4
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
5 Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
6
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
7
Racepinephrine Approved Phase 4 329-65-7 838
8
BCG vaccine Investigational Phase 4
9
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
10 polysaccharide-K Phase 4
11 Vaccines Phase 4
12 Antiemetics Phase 4
13 Gastrointestinal Agents Phase 4
14 Autonomic Agents Phase 4
15 Anti-Inflammatory Agents Phase 4
16 Hormone Antagonists Phase 4
17 Antineoplastic Agents, Hormonal Phase 4
18 glucocorticoids Phase 4
19 Epinephryl borate Phase 4
20 Methylprednisolone Acetate Phase 4
21 Neuroprotective Agents Phase 4
22
leucovorin Approved Phase 3 58-05-9 6006 143
23 Orange Approved Phase 3
24
Ferrous fumarate Approved Phase 3 141-01-5
25
Tocopherol Approved, Investigational Phase 3 1406-66-2, 54-28-4 14986
26
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
27
Vitamin E Approved, Nutraceutical, Vet_approved Phase 3 59-02-9 14985
28 Tocotrienol Investigational Phase 3 6829-55-6
29 Respiratory System Agents Phase 3
30 Pulmonary Surfactants Phase 3
31 Vitamin B Complex Phase 3
32 Vitamin B9 Phase 3
33 Folate Phase 3
34 Tin Fluorides Phase 2, Phase 3
35 Hematinics Phase 3
36 Tocopherols Phase 3
37 Tocotrienols Phase 3
38
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
39
Lenograstim Approved, Investigational Phase 2 135968-09-1
40
Levoleucovorin Approved, Investigational Phase 2 68538-85-2
41
Vitamin A Approved, Nutraceutical, Vet_approved Phase 2 68-26-8, 11103-57-4, 22737-96-8 445354 9904001
42
Vitamin D Approved, Nutraceutical, Vet_approved Phase 2 1406-16-2
43
Calcium Approved, Nutraceutical Phase 2 7440-70-2 271
44
Ergocalciferol Approved, Nutraceutical Phase 2 50-14-6 5280793
45
Vitamin D3 Approved, Nutraceutical Phase 2 67-97-0 6221 5280795
46 Cassava Phase 2
47
protease inhibitors Phase 2
48 HIV Protease Inhibitors Phase 2
49 Vitamins Phase 2
50 retinol Phase 2

Interventional clinical trials:

(show top 50) (show all 94)
# Name Status NCT ID Phase Drugs
1 Should Infants Receive High-dose Vitamin A Supplementation With BCG Vaccine at Birth in Developing Countries? Randomized Prospective Studies in Guinea-Bissau Unknown status NCT00168610 Phase 4 Vitamin A
2 Randomised Trial of Vitamin A Supplementation Given With Routine Childhood Vaccines at National Immunisation Days Unknown status NCT00168623 Phase 4 Vitamin A
3 The Effect of Vitamin A Supplementation on Gene Expression of Cytokine Secreted by T CD4+ Lymphocyte in Atherosclerotic Patients Unknown status NCT01414972 Phase 4 Vitamin A;placebo
4 The Impact of Vitamin A Supplementation on Gene Expression of Cytokine Secreted by CD4+ T Lymphocyte in Multiple Sclerosis Patients Unknown status NCT01407211 Phase 4
5 The Study of the Effects of Vitamin A Supplementation on Immune System and Th1/Th2 Balance in Patients With Atherosclerosis Unknown status NCT00963222 Phase 4 vitamin A;placebo
6 Should Infants Receive High-dose Vitamin A Supplementation With BCG Vaccine at Birth in Developing Countries? Completed NCT00168597 Phase 4 Vitamin A
7 Adrenal Cortical Function and Vitamin A Deficiency in Sepsis, Severe Sepsis and Septic Shock: Prospective Randomized, Double Blind Placebo Controlled Clinical Trials Completed NCT03152474 Phase 4 Solumedrol 20mg;Vitamin A 100,000 IU
8 The Study of the Effects of Vitamin A Supplementation on Immune System and Th1/Th2 Balance in Patients With Multiple Sclerosis Completed NCT01225289 Phase 4 Placebo
9 Comparison of the Efficacy and Acceptability of Three Types of Micronutrient Supplements Added to Complementary Foods for Infants in Ghana Completed NCT00379158 Phase 4 Micronutrient supplements
10 Intratracheal Vitamin A Administration With Surfactant for Newborn Respiratory Distress Syndrome Unknown status NCT01265589 Phase 3 surfactant;surfactant+vitamin A
11 Efficacy of β-carotene Biofortified Maize in Improving Vitamin A Status and Reducing the Prevalence of Vitamin A Deficiency Among Children in Rural Zambia Completed NCT01695148 Phase 3
12 Stopping Postpartum Vitamin A Supplementation: Are we Missing Concealed Benefit? Completed NCT02043223 Phase 2, Phase 3
13 Efficacy of Biofortified Maize to Improve Maternal and Infant Vitamin A Status Completed NCT02804490 Phase 3
14 Impact of Maternal Vitamin A or Beta-Carotene Supplementation on Maternal and Infant Mortality in Bangladesh Completed NCT00198822 Phase 3
15 Impact of Supplementation With Dual Megadose of Vitamin A in the Post-partum About Vitamin A Levels in Breast Milk, Serum Levels of Vitamin A and Iron in the Binomial Mother-son and Growth and Morbidity of Children Under 6 Months Completed NCT00742937 Phase 2, Phase 3
16 Adjunct Vitamin A Therapy for Tuberculosis and HIV/AIDS Completed NCT00057434 Phase 3 multivitamin
17 The Role of Sub-clinical Inflammation on the Iron Status of Myanmar Anaemic Adolescent Schoolgirls During Iron and Vitamin A Supplementation Completed NCT01198574 Phase 3
18 Effect of Vitamin A in the Treatment of Sepsis and Necrotizing Enterocolitis in Hospitalized Neonates Completed NCT00707785 Phase 3
19 Randomised Double-blind Placebo-controlled Trial to Evaluate the Impact of Vitamin A on Maternal Mortality in Ghana Completed NCT00211341 Phase 3
20 Vitamin A Supplementation in Newborns Study Completed NCT00114868 Phase 3 Vitamin A
21 Effects of Fat-soluble Vitamins Supplementation in Early Life 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
22 A Randomized Community Trial of Newborn Vitamin A Supplementation to Reduce Infant Mortality in Rural Bangladesh Terminated NCT00128557 Phase 3 vitamin A supplementation (50,000 IU)
23 A Randomized Controlled Trial in Human Neonates to Determine the Effect of Vitamin A Supplementation on Immune Responses Unknown status NCT01476358 Phase 2
24 Prevention of HIV Shedding in Women - Trial of Vitamin A Completed NCT00053612 Phase 2 Vitamin A
25 A Phase II Randomized Study of Rituximab-HCVAD Alternating With Rituximab-Methotrexate-Cytarabine Versus Standard Rituximab-CHOP Every 21 Days for Patients With Newly Diagnosed High Risk Aggressive B-Cell Non-Hodgkin's Lymphomas in Patients 60 Years Old or Younger Completed NCT00290498 Phase 2 Rituximab;Cyclophosphamide;Doxorubicin;Vincristine;Dexamethasone;Methotrexate;Cytarabine;Prednisone
26 Vitamin A Equivalence of Carotenoids From Cassava in Women Completed NCT01381276 Phase 2
27 Phase II CCOP Trial of High Dose Methotrexate/ARA-C and HCVAD for Newly Diagnosed Nodular and Diffuse Mantle Cell Lymphoma and Their Blastic Variants Completed NCT00003311 Phase 2 cyclophosphamide;cytarabine;dexamethasone;doxorubicin hydrochloride;methotrexate;vincristine sulfate
28 Phase 2 Study of VITAMIN A EQUIVALENCE OF PLANT CAROTENOIDS IN CHILDREN Completed NCT00680212 Phase 2
29 Randomized Trial of Vitamin A Supplementation for Extremely-Low-Birth-Weight Completed NCT01203488 Phase 1, Phase 2 Vitamin A
30 A Randomized Phase II Trial of R-HCVAD/MTX/ARA-C Induction Followed by Consolidation With an Autologous Stem Cell Transplant Vs. R-Bendamustine Induction Followed by Consolidation With an Autologous Stem Cell Transplant for Patients ≤ 65 Years of Age With Previously Untreated Mantle Cell Lymphoma Active, not recruiting NCT01412879 Phase 2 bendamustine hydrochloride;cyclophosphamide;cytarabine;dexamethasone;doxorubicin hydrochloride;leucovorin calcium;methotrexate;vincristine sulfate
31 Vitamin A Supplementation of Breast Feeding Mothers and Their Neonates at Delivery: Impact on Mother to Child Transmission of HIV During Lactation, HIV Infection Among Women During the Postpartum Year, and Infant Mortality. Active, not recruiting NCT00198718 Phase 2 Vitamin A (retinyl palmitate)
32 Daily Vitamin D for Sickle-cell Respiratory Complications Not yet recruiting NCT04170348 Phase 2 Daily oral vitamin D3, 3,333 IU;Bolus oral vitamin D3, 100,000 IU;Placebo oral tablet
33 Rituximab-HyperCVAD (R-HCVAD) Alternating With Rituximab-Methotrexate-Cytarabine- (R-MC) in Newly Diagnosed Patients With Diffuse Large B-Cell Lymphoma With MYC-Rearrangement. A Phase 2, Multi-Center, Open Label Study (CTRC# 11-53) Withdrawn NCT01854372 Phase 2 R-HCVAD and R-MC
34 Vitamin A Therapy in Preterm Infants: Vaccine Response Unknown status NCT00063596 Vitamin A supplementation
35 Using Stable Isotope Techniques to Monitor & Assess the Vitamin A Status of Children Susceptible to Infection Unknown status NCT03194724
36 Efficacy of Vitamin A Fortified Rice in Lactating Thai Women Unknown status NCT03056625
37 Using Impression Cytology to Observe the Cytological Changes of Ocular Surface Cells in Various Ocular Surface Disorders Unknown status NCT01387971
38 A Prospective Study to Determine Long Term Impact of Bariatric Surgery on Metabolic, Nutritional and Quality of Life Status: PART 2 Unknown status NCT02813707
39 Vitamin A Equivalence of the Provitamin A in Biofortified Bananas Completed NCT02702622
40 Development of 13C-Retinol Isotope Dilution Techniques Completed NCT04123210
41 Effect of Daily Consumption of β-carotene Biofortified Maize on Milk Retinol Concentration in Lactating Zambian Women Completed NCT01922713
42 Estimating Dietary Vitamin A Requirement in Chinese Children by Stable-isotope Dilution Technique Completed NCT01559766
43 Efficacy of Yellow Cassava to Improve Vitamin A Status of Mildly Deficient Primary School Children in Kenya: a Randomized Controlled Trial Completed NCT01614483
44 Treatment of Congenital Stationary Night Blindness With an Alga Containing High Dose of Beta Carotene Completed NCT00569023
45 Efficacy of Newborn Vitamin A Supplementation in Improving Immune Function Completed NCT01583972
46 Using Stable Isotope Techniques to Monitor and Assess the Vitamin A Status of Children Susceptible to Infection in Ethiopia Completed NCT02363985
47 An Efficacy Trial of Fe, Zn and Vitamin A Fortified Rice in Children in Satun, Thailand Completed NCT01061307 Early Phase 1
48 The Efficacy of Pro-vitamin A Biofortified Cassava on Vitamin A Status in Nigerian Preschool Children Completed NCT02627222
49 Newly Formulated, Extruded Fortified-blended Foods for Food Aid: the MFFAPP Tanzania Efficacy Study Completed NCT02847962
50 Impact of Daily Feeding of Food Sources of Cryptoxanthin (CX) and Beta-carotene (BC) on Plasma and Breast Milk Concentrations of CX, BC, and Retinol (VA) in Lactating Women With Marginal Vitamin A Status Completed NCT01420406

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

Inferred drug relations via UMLS 71 / NDF-RT 50 :


Cod Liver Oil
retinol acetate
retinyl palmitate
Vitamin A
VITAMIN A (AS ACETATE & BETA CAROTENE)
VITAMIN A (AS PALMITATE & BETA CAROTENE)
VITAMIN A (NATURAL)
VITAMIN A PALMITATE (SOLUBILIZED)

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 29 BCO1

Anatomical Context for Hypercarotenemia and Vitamin a Deficiency, Autosomal Dominant

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

40
Liver, Eye, Skin, Lung, Testes, Breast, T Cells

Publications for Hypercarotenemia and Vitamin a Deficiency, Autosomal Dominant

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

(show top 50) (show all 3464)
# Title Authors PMID Year
1
Loss-of-function mutation in carotenoid 15,15'-monooxygenase identified in a patient with hypercarotenemia and hypovitaminosis A. 56 6
17951468 2007
2
Familial hypercarotinaemia and hypovitaminosis A. 56 6
5453458 1970
3
Common variation in the beta-carotene 15,15'-monooxygenase 1 gene affects circulating levels of carotenoids: a genome-wide association study. 56
19185284 2009
4
Carotenaemia with low vitamin A levels and low retinol-binding protein. 56
1293390 1992
5
[Keratodermal state with lowered serum level of vitamin A and hypercarotinemia]. 56
5955354 1966
6
Serum retinol binding protein as an indicator of vitamin A status in cirrhotic patients with night blindness. 54 61
19568486 2008
7
Effect of vitamin A supplementation with BCG vaccine at birth on vitamin A status at 6 wk and 4 mo of age. 54 61
17921381 2007
8
HIV-1 infection alters the retinol-binding protein:transthyretin ratio even in the absence of the acute phase response. 54 61
16702331 2006
9
Retinol-binding protein, transthyretin, and C-reactive protein in extremely low birth weight (ELBW) infants. 54 61
16208398 2005
10
[Protein profile and vitamin A in children of school age in Ivory Coast]. 54 61
15951260 2005
11
Possible pathomechanisms of sudden infant death syndrome: key role of chronic hypoxia, infection/inflammation states, cytokine irregularities, and metabolic trauma in genetically predisposed infants. 54 61
15543094 2004
12
Use of serum retinol-binding protein for prediction of vitamin A deficiency: effects of HIV-1 infection, protein malnutrition, and the acute phase response. 54 61
14749226 2004
13
Regulation of hepatic retinol metabolism: perspectives from studies on vitamin A status. 54 61
14704332 2004
14
Vitamin A transport: in vitro models for the study of RBP secretion. 54 61
14585312 2003
15
Retinoid receptors and vitamin A deficiency: differential patterns of transcription during early avian development and the rapid induction of RARs by retinoic acid. 54 61
12921748 2003
16
A comparison of three vitamin A dosing regimens in extremely-low-birth-weight infants. 54 61
12838194 2003
17
In vivo studies of altered expression patterns of p53 and proliferative control genes in chronic vitamin A deficiency and hypervitaminosis. 54 61
12654005 2003
18
Biochemical indicators of vitamin A deficiency: serum retinol and serum retinol binding protein. 54 61
12221267 2002
19
Assessment of vitamin A status of preschool children in Indonesia using plasma retinol-binding protein. 54 61
12022434 2002
20
Retinol binding protein as a surrogate measure for serum retinol: studies in vitamin A-deficient children from the Republic of the Marshall Islands. 54 61
11237937 2001
21
Use of the retinol-binding protein: transthyretin ratio for assessment of vitamin A status during the acute-phase response. 54 61
10953676 2000
22
Evaluation of plasma retinol-binding protein as a surrogate measure for plasma retinol concentrations. 54 61
10885491 2000
23
MMH cells: An in vitro model for the study of retinol-binding protein secretion regulated by retinol. 54 61
10457350 1999
24
A low molar ratio of retinol binding protein to transthyretin indicates vitamin A deficiency during inflammation: studies in rats and a posterior analysis of vitamin A-supplemented children with measles. 54 61
9772136 1998
25
Initial retinoid requirement for early avian development coincides with retinoid receptor coexpression in the precardiac fields and induction of normal cardiovascular development. 54 61
9786419 1998
26
Sequential evaluation of plasma retinol-binding protein response to vitamin A administration in very-low-birth-weight neonates. 54 61
7551819 1995
27
Effect of gestational age and retinol (vitamin A) deficiency on fetal rat lung nuclear retinoic acid receptors. 54 61
8384711 1993
28
Comparison of enteral and intramuscular vitamin A supplementation in preterm infants. 54 61
1493768 1992
29
Regulation of plasma retinol binding protein secretion in human HepG2 cells. 54 61
1315290 1992
30
Prevalence of malnutrition and vitamin A deficiency in the Diourbel, Fatick, and Kaolack regions of Senegal: a controlled study. 54 61
1898583 1991
31
Regulation of metabolism of retinol-binding protein by vitamin A status in children with biliary atresia. 54 61
2321569 1990
32
Plasma retinol-binding protein response to vitamin A administration in infants susceptible to bronchopulmonary dysplasia. 54 61
2108233 1990
33
Tribal Odisha Eye Disease Study Report # 6. Opportunistic screening of vitamin A deficiency through School Sight Program in tribal Odisha (India). 61
31957725 2020
34
Prevalence of ocular morbidities among school children in Raipur district, India. 61
31957723 2020
35
Prenatal Zinc and Vitamin A Reduce the Benefit of Iron on Maternal Hematologic and Micronutrient Status at Delivery in Tanzania. 61
31618430 2020
36
Nutritional status and intestinal parasites among young children from pastoralist communities of the Ethiopian Somali region. 61
32026575 2020
37
Vitamin A Deficiency in Patients Undergoing Sleeve Gastrectomy and Gastric Bypass: A 2-Year, Single-Center Review. 61
31855096 2020
38
Evaluation and Clinical Course of Keratomalacia With Descemetocele in a Child With Autism and Vitamin A Deficiency. 61
31978231 2020
39
Prospects for Carotenoid Biofortification Targeting Retention and Catabolism. 61
31956035 2020
40
Expression and Characterization of Mammalian Carotenoid Cleavage Dioxygenases. 61
31745914 2020
41
Pro-vitamin A carotenoid content of 48 plantain (Musa AAB genome) cultivars sourced from eastern Democratic Republic of Congo. 61
31591722 2020
42
Anemia, micronutrient deficiencies, malaria, hemoglobinopathies and malnutrition in young children and non-pregnant women in Ghana: Findings from a national survey. 61
31999737 2020
43
Micronutrient Status in Diabetic Patients with Foot Ulcers. 61
31871826 2020
44
An Integrated Infant and Young Child Feeding and Micronutrient Powder Intervention Does Not Affect Anemia, Iron Status, or Vitamin A Status among Children Aged 12-23 Months in Eastern Uganda. 61
31923315 2020
45
High-Dose Neonatal Vitamin A Supplementation Transiently Decreases Thymic Function in Early Infancy. 61
31504694 2020
46
Pro-vitamin A carotenoids in East African highland banana and other Musa cultivars grown in Uganda. 61
31993157 2020
47
Prevalence and Risk Factors for Iron Deficiency in Adults With Cystic Fibrosis. 61
31994790 2020
48
Food fortification with multiple micronutrients: impact on health outcomes in general population. 61
31849042 2019
49
Role of Vitamin A in Mammary Gland Development and Lactation. 61
31892157 2019
50
Vitamin A and its metabolic pathway play a determinant role in high-fructose-induced triglyceride accumulation of the visceral adipose depot of male Wistar rats. 61
31495961 2019

Variations for Hypercarotenemia and Vitamin a Deficiency, Autosomal Dominant

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

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 BCO1 NM_017429.3(BCO1):c.509C>T (p.Thr170Met)SNV Pathogenic 4772 rs119478057 16:81298282-81298282 16:81264677-81264677

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

73
# Symbol AA change Variation ID SNP ID
1 BCO1 p.Thr170Met VAR_058112 rs119478057

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 TTR RBP4 RARB RARA LRAT CYP26A1
2
Show member pathways
13.69 TTR RBP4 RARS1 PCK2 LRAT CYP26A1
3
Show member pathways
12.28 TTR RBP4 LRAT BCO1
4
Show member pathways
11.79 TTR RBP4 LRAT BCO1
5 11.73 RARA PCK2 CYP26A1
6 11.55 TTR RBP4 LRAT
7
Show member pathways
11.32 RARB RARA CYP26A1
8
Show member pathways
11.17 TTR RBP4 LRAT
9 11.11 RARB RARA
10
Show member pathways
10.74 TTR RBP4
11 10.74 RBP4 RARB RARA LRAT CYP26A1 BCO1
12 10.68 RARB RARA CYP26A1

GO Terms for Hypercarotenemia and Vitamin a Deficiency, Autosomal Dominant

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

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 RARB RARA
2 nuclear receptor transcription coactivator activity GO:0030374 9.32 RARB RARA
3 steroid hormone receptor activity GO:0003707 9.26 RARB RARA
4 nuclear receptor activity GO:0004879 9.16 RARB RARA
5 retinol binding GO:0019841 8.96 RBP4 LRAT
6 retinoic acid binding GO:0001972 8.8 RARA LRAT CYP26A1

Sources for Hypercarotenemia and Vitamin a Deficiency, Autosomal Dominant

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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