HCVAD
MCID: HYP276
MIFTS: 35

Hypercarotenemia and Vitamin a Deficiency, Autosomal Dominant (HCVAD)

Categories: Genetic 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 57 73 29 13 6 39
Vitamin a Deficiency 44 71
Hcvad 57 73
Hypercarotenemia and Hypovitaminosis a 73

Characteristics:

OMIM®:

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


HPO:

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


Classifications:



External Ids:

OMIM® 57 115300
MeSH 44 D014802
UMLS 71 C0042842

Summaries for Hypercarotenemia and Vitamin a Deficiency, Autosomal Dominant

OMIM® : 57 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) (Updated 05-Mar-2021)

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). The drugs Dinoprostone and Racepinephrine have been mentioned in the context of this disorder. Affiliated tissues include bone, liver and endothelial, and related phenotypes are low levels of vitamin a and abnormality of the skin

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 267)
# Related Disease Score Top Affiliating Genes
1 keratomalacia 11.9
2 xerophthalmia 11.2
3 hereditary hypercarotenemia and vitamin a deficiency 11.2
4 hypercarotenemia and vitamin a deficiency, autosomal recessive 11.2
5 night blindness 11.2
6 corneal ulcer 11.0
7 pagod syndrome 11.0
8 retinal dystrophy, iris coloboma, and comedogenic acne syndrome 11.0
9 microphthalmia 11.0
10 acquired night blindness 11.0
11 yemenite deaf-blind hypopigmentation syndrome 10.9
12 keratoconjunctivitis sicca 10.8
13 diarrhea 10.5
14 iron metabolism disease 10.5
15 measles 10.5
16 deficiency anemia 10.5
17 darier-white disease 10.4
18 protein-energy malnutrition 10.4
19 cystic fibrosis 10.3
20 iron deficiency anemia 10.3
21 keratitis, hereditary 10.2
22 keratosis 10.2
23 liver cirrhosis 10.2
24 human immunodeficiency virus type 1 10.2
25 newcastle disease 10.2
26 hypervitaminosis a 10.2
27 immune deficiency disease 10.2
28 leptin deficiency or dysfunction 10.2
29 eye disease 10.2
30 autism 10.1
31 autism spectrum disorder 10.1
32 hypothyroidism 10.1
33 fundus dystrophy 10.1
34 crohn's disease 10.1
35 inherited retinal disorder 10.1
36 alcohol dependence 10.1
37 papillomatosis, confluent and reticulated 10.1
38 urolithiasis 10.1
39 hydrocephalus 10.1
40 trachoma 10.1
41 tetanus 10.1
42 goiter 10.1
43 fatty liver disease 10.1
44 diffuse large b-cell lymphoma 10.0
45 lymphoma 10.0
46 b-cell lymphoma 10.0
47 otitis media 10.0
48 celiac disease 1 10.0
49 hepatitis c virus 10.0
50 malaria 10.0

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 low levels of vitamin a 31 HP:0004905
2 abnormality of the skin 31 HP:0000951

Symptoms via clinical synopsis from OMIM®:

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

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 226)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dinoprostone Approved Phase 4 363-24-6 5280360
2
Racepinephrine Approved Phase 4 329-65-7 838
3
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
4
Parathyroid hormone Approved, Investigational Phase 4 9002-64-6
5
Ezetimibe Approved Phase 4 163222-33-1 150311
6
Vitamin K1 Approved, Investigational Phase 4 84-80-0 5284607
7
Metformin Approved Phase 4 657-24-9 14219 4091
8
Trimethoprim Approved, Vet_approved Phase 4 738-70-5 5578
9
Calcifediol Approved, Nutraceutical Phase 4 19356-17-3 6433735 5283731
10
Menadione Approved, Nutraceutical Phase 4 58-27-5 4055
11
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
12
Thiamine Approved, Investigational, Nutraceutical, Vet_approved Phase 4 70-16-6, 59-43-8 1130
13 Menaquinone Investigational Phase 4 1182-68-9
14 Epinephryl borate Phase 4
15 Hydroxycholecalciferols Phase 4
16 Hematinics Phase 4
17 Mitogens Phase 4
18 Lipid Regulating Agents Phase 4
19 Hypolipidemic Agents Phase 4
20 Anticholesteremic Agents Phase 4
21 Hemostatics Phase 4
22 Vitamin K Phase 4
23 naphthoquinone Phase 4
24 Coagulants Phase 4
25 Antifibrinolytic Agents Phase 4
26 Vitamin K 2 Phase 4
27 Angiogenesis Inducing Agents Phase 4
28 Endothelial Growth Factors Phase 4
29 Vitamin D2 Phase 4
30 Ergocalciferols Phase 4
31 Thiamin Phase 4
32 Cytochrome P-450 Enzyme Inhibitors Phase 4
33 Antiparasitic Agents Phase 4
34 Antiprotozoal Agents Phase 4
35 Hypoglycemic Agents Phase 4
36 Antimalarials Phase 4
37 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
38 Orange Approved Phase 3
39
Methionine Approved, Nutraceutical Phase 2, Phase 3 63-68-3 6137
40 Anticonvulsants Phase 3
41 Tin Fluorides Phase 2, Phase 3
42 Pharmaceutical Solutions Phase 3
43 Contraceptives, Oral, Combined Phase 2, Phase 3
44 Contraceptive Agents Phase 2, Phase 3
45 Contraceptives, Oral Phase 2, Phase 3
46 Insulin, Globin Zinc Phase 3
47 insulin Phase 3
48
Serine Investigational, Nutraceutical Phase 2, Phase 3 56-45-1 5951
49
Leucine Investigational, Nutraceutical Phase 2, Phase 3 61-90-5 6106
50
Calcium carbonate Approved, Investigational Phase 2 471-34-1

Interventional clinical trials:

(show top 50) (show all 487)
# Name Status NCT ID Phase Drugs
1 How Many Patients Are in Need of Vitamin B12 Injections? Unknown status NCT00326833 Phase 4 vitamin B12
2 Effects of Cholecalciferol on Osteoprotegerin Levels and Other Clinical Outcomes in Chronic Kidney Disease Patients on Peritoneal Dialysis: a Randomized Controlled Trial Unknown status NCT02598635 Phase 4 Cholecalciferol;Placebo
3 The Immune and Clinical Impacts of Vitamin D in Patients With Chronic Musculo-skeletal Pain Unknown status NCT01417923 Phase 4 vitamin D
4 Does Administration of Vitamin D in African Americans With Hypovitaminosis D and Type 2 DM Improve Inflammatory Markers of Cardiovascular Disease? Unknown status NCT01153243 Phase 4 Ergocalciferol;Placebo pill
5 Study of Vitamin D2 Virus 1,25(OH)2-Vitamin D3 and Normal Protein Diet Virus Low Protein Diet in the Treatment of CKD-MBD and Malnutrition for Progressive CKD Patients Unknown status NCT02005302 Phase 4 1,25(OH)2 Vitamin D3;Vitamin D2
6 Maintenance of Vitamin D Sufficiency With Oral Vitamin D Supplementation in Malaysian Women of Malay and Indian Ethnicity With Post Menopausal Osteoporosis Unknown status NCT02389179 Phase 4 Vitamin D3
7 The Impacts of Vitamin D Supplementation on Glucose Metabolism in Chinese Women With Vitamin D Deficiency and Former Gestational Diabetes Mellitus:A Randomised Control Trial Unknown status NCT03138616 Phase 4 vitamin D
8 Correction of Vitamin D Deficiency to Prevent Postoperative Hypocalcemia After Thyroidectomy Unknown status NCT01632514 Phase 4 Cholecalciferol
9 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
10 Comparison of Changes in Serum 25(OH)D Concentrations Following Vitamin D Supplementation With Chewable Tablets Versus Pills Completed NCT02158598 Phase 4 Vitamin D chewable tablet supplementation;Vitamin D pill supplementation
11 A Single Wintertime Dose of Vitamin D3 to Prevent Winter Decline in Vitamin D Concentrations in Healthy Adults: A Pilot Study Completed NCT01924910 Phase 4
12 Vitamin D Dose-response Study Throughout Pregnancy and Lactation Completed NCT01112891 Phase 4 Vitamin D;Vitamin D3;Vitamin D
13 Characterization of Hyperparathyroidism and Vitamin D Deficiency in Obesity Completed NCT00288873 Phase 4 Ergocalciferol;Cholecalciferol
14 A Pilot Study to Evaluate the Efficacy of Daily Vitamin D3 Supplementation in Normal Weight Adolescents Completed NCT01058720 Phase 4
15 Vitamin D Status in Males in Jerusalem Area and Its Correlation to Parathyroid Hormone (PTH) Level and Bone Mineral Density Completed NCT01025128 Phase 4 25 OH vitamin D
16 Immunologic Functions of a Single Dose of 100.000 I.U. Cholecalciferol (Vitamin D3) Completed NCT01845142 Phase 4 single administration of 100.000 I.U. vitamin D;Placebo
17 Vitamin D Treatment Attenuates Heart Apoptosis After Coronary Artery Bypass Surgery; A Double-Blind Randomized Placebo-Controlled Clinical Trial Completed NCT04323852 Phase 4 Vitamin D;Placebo
18 The Role of Vitamin D in the Pathophysiology of Chronic Failure: Insight in to Mechanisms of Action and Implications for Vitamin D Supplementation Completed NCT01993537 Phase 4 Vitamin D
19 The Role of Methycobalamin in Early Dementia Patients With Vitamin B12 Deficiency and Hyperhomocysteinaemia. Completed NCT00165711 Phase 4 Mecobalamin
20 Effects of Vitamin D Supplementation in Vitamin D Deficient Obese Subject. Completed NCT01037140 Phase 4 Cholecalciferol;placebo
21 Effect Of Oral Daily Supplementation With 400 IU Vs 200 IU Of Vitamin D In Term Healthy Newborns: A Randomised Control Trial Completed NCT02186028 Phase 4 Vitamin D
22 Vitamin D in Pediatric Crohn's Disease Completed NCT01187459 Phase 4
23 Prospective, Randomized, Double Blind Placebo Controled Clinical Trial to Assess the Multi- Systemic Effect of Vitamin D Supplementation on Young Men With Vitamin D Deficiency Completed NCT01016184 Phase 4
24 Comparison of Two Standard High-dose Treatment Regimens for Vitamin D Deficiency in Minority Adolescents: Associations of Vitamin D Repletion With Changes in Markers of Musculoskeletal, Cardiometabolic, and Immune Function Completed NCT01784029 Phase 4 Vitamin D3
25 How Much Vitamin D is Required to be Protective Against Deficiency During the Winter Months? - An Investigation in Veterans Living at Ste-Anne's Hospital Completed NCT01437696 Phase 4
26 A Study, Four Parallel Arms, Included Two Arms Open Randomisation to Different Doses of Vitamin D, for Assessment of Efficacy of Treatment With Vitamin D at Vitamin D Deficiency, Vitamin D Insufficiency and Suboptimal Levels of Vitamin D Completed NCT01419119 Phase 4 Cholecalciferol;Cholecalciferol;Cholecalciferol;Cholecalciferol
27 Effect of Vitamin D Supplementation During Lactation on Vitamin D Status, Bone Mineralisation and Body Composition of Mother and Their Exclusively Breastfed Infants. Completed NCT01506557 Phase 4
28 Randomized Clinical Trial for The Evaluation of The Effects Of Cholecalciferol Supplementation On The Parathyroid Hormone In Hemodialysis Patients Completed NCT03648528 Phase 4 cholecalciferol;placebo
29 Study of Vitamin D2 Virus 1,25(OH)2-Vitamin D3 in the Treatment of Chronic Kidney Disease Mineral and Bone Disease Completed NCT01633853 Phase 4 Vitamin D2;1,25(OH)2 Vit D3
30 Vitamin Deficiencies and Suppletion in Morbid Obesity Completed NCT02270749 Phase 4 Hydroxocobalamin;FitForMe vitamin B12
31 Treatment of Vitamin D Insufficiency Completed NCT00933244 Phase 4
32 A Prospective, Single-centre, Open-label Study to Confirm the Efficacy and Safety of Vitamin D3 B.O.N. Intramuscular Injection in Adults With Vitamin D Deficiency Completed NCT03233295 Phase 4 Vitamin D3 B.O.N. Injection
33 A Randomized Phase IV Control Trial of Single High Dose Oral Vitamin D3 (Stoss Therapy) in Pediatric Patients Undergoing HSCT to Prevent Vitamin D Deficiency and Insufficiency During Transplant Completed NCT03176849 Phase 4
34 Multi-dose Vitamin D Supplementation in Preterm Infants Completed NCT02941185 Phase 4 Devit-3 Oral Drop
35 Effect of Escalating Oral Vitamin D Replacement on HOMA-IR in Vitamin D Deficient Type 2 Diabetics Completed NCT04183257 Phase 4 oral vitamin D
36 A Randomized, Open-Label, 2-Way Cross-Over, Phase 4 Study to Evaluate Subject Preference and Acceptability of a New Formulation of Calcichew D3 in Adult Patients Eligible for Calcium and Vitamin D Supplementation Completed NCT02457247 Phase 4 Calcichew D3;Adcal-D3;Kalcipos-D
37 Estudo clínico Randomizado, Controlado e Duplo-cego do Impacto da inibição de um Transportador de Membrana do Colesterol na absorção da Vitamina D Completed NCT02234544 Phase 4 Ezetimibe;Cholecalciferol
38 Is Vitamin D2 Treatment-associated Decrease in 25(OH)D3 Level a Reciprocal Phenomena? A Randomized Controlled Trial Completed NCT03035084 Phase 4 Vitamin D3;Vitamin D2;Placebo oral capsule
39 Oral Vitamin D Substitution Weekly or Monthly - Which Procedure Leads to Highest Adherence? A Prospective Intervention Study in Outpatient Care Completed NCT03141593 Phase 4 Vitamin D: liquid form, start weekly;Vitamin D: liquid form, start monthly;Vitamin D: solid form, start weekly;Vitamin D: solid form, start monthly
40 A Prospective Randomized Trial Comparing the Effects of 2 Vitamin D Supplementation Regimens in Elderly People After Hip Fracture Surgery Completed NCT03213886 Phase 4 Calcifediol (Vitamin D)
41 Vitamin D Increases Serum Levels of the Soluble Receptor for Advanced Glycation End Products in Women With PCOS Completed NCT03644212 Phase 4 Vitamin D3
42 Effect of Ergocalciferol Repletion on Urine Calcium Among Stone Formers With Vitamin D Deficiency and Hypercalciuria Completed NCT01295879 Phase 4 Ergocalciferol
43 A Prospective, Double Blind, Randomized, Phase 4, Clinical Trial of The Effects of Vitamin D Supplementation on Patients With Type 2 Diabetes and Vitamin D Deficiency Completed NCT01991054 Phase 4
44 Styrian Vitamin D Hypertension Trial: A Randomized, Double-blind, Placebo Controlled Trial to Evaluate the Effects of Vitamin D Supplementation on Systolic Ambulatory Blood Pressure in Vitamin D Deficient Hypertensive Patients Completed NCT02136771 Phase 4
45 Efficacy of Calcifediol Supplementation in Asthma Control in Asthmatic Patients With Vitamin D Deficiency (ACViD) Completed NCT02805907 Phase 4 Calcifediol;Placebo
46 Risk Factors for Vascular Calcifications in Hemodialysis Patients: to What Extent is Vitamin K2 Deficiency Involved? Completed NCT02876354 Phase 4 Menaquinone
47 Response of Secondary Hyperparathyroidism to Paricalcitol Versus Ergocalciferol in Patients With Stage 3 and 4 Chronic Kidney Disease With Vitamin D Deficiency: a Randomized Controlled Trial Completed NCT00958451 Phase 4 Paricalcitol;Ergocalciferol
48 Evaluation of a Strategy for Systematic Screening for Vitamin D Deficiency and Treatment in Case of Deficiency, on the Improvement of the Maximum Walking Distance in Patients With Stage 2 Lower Limb Arterial Disease. Completed NCT03615833 Phase 4 Cholecalciferol
49 The Effect of Vitamin D on the Microcirculation of Patients With Chronic Kidney Disease (CKD) and Vitamin D Deficiency Completed NCT00882401 Phase 4 Ergocalciferol (Vitamin D);Placebo
50 The Effects of Vitamin D Supplementation on Transforming Growth Factor-beta1 and Vascular Endothelial Growth Factor in Vitamin D-Deficient Women With Polycystic Ovary Syndrome: A Randomized Placebo-Controlled Trial Completed NCT02460380 Phase 4 Vitamin D3

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

Inferred drug relations via UMLS 71 / NDF-RT 51 :


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

Anatomical Context for Hypercarotenemia and Vitamin a Deficiency, Autosomal Dominant

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

40
Bone, Liver, Endothelial, Skeletal Muscle, Retina, Skin, Ovary

Publications for Hypercarotenemia and Vitamin a Deficiency, Autosomal Dominant

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

(show all 27)
# Title Authors PMID Year
1
Loss-of-function mutation in carotenoid 15,15'-monooxygenase identified in a patient with hypercarotenemia and hypovitaminosis A. 6 57
17951468 2007
2
Familial hypercarotinaemia and hypovitaminosis A. 6 57
5453458 1970
3
Common variation in the beta-carotene 15,15'-monooxygenase 1 gene affects circulating levels of carotenoids: a genome-wide association study. 57
19185284 2009
4
Carotenaemia with low vitamin A levels and low retinol-binding protein. 57
1293390 1992
5
[Keratodermal state with lowered serum level of vitamin A and hypercarotinemia]. 57
5955354 1966
6
Long-term results of the MCL01 phase II trial of rituximab plus HyperCVAD alternating with high-dose cytarabine and methotrexate for the initial treatment of patients with mantle cell lymphoma. 61
32410259 2020
7
Prognostic factors, therapeutic approaches, and distinct immunobiologic features in patients with primary mediastinal large B-cell lymphoma on long-term follow-up. 61
32366834 2020
8
Comparison of Various Hematopoietic Stem Cell Mobilization Regimens in Patients with Lymphoma and Myeloma. 61
31625348 2019
9
Inotuzumab ozogamicin in combination with low-intensity chemotherapy (mini-HCVD) with or without blinatumomab versus standard intensive chemotherapy (HCVAD) as frontline therapy for older patients with Philadelphia chromosome-negative acute lymphoblastic leukemia: A propensity score analysis. 61
30985931 2019
10
Adult Acute Lymphoblastic Leukemia: Limitations of Intensification of Therapy in a Developing Country. 61
30222028 2018
11
Paramount therapy for young and fit patients with mantle cell lymphoma: strategies for front-line therapy. 61
30005678 2018
12
Efficacy of Standard Dose R-CHOP Alternating With R-HDAC Followed by Autologous Hematopoietic Cell Transplantation as Initial Therapy of Mantle Cell Lymphoma, a Single-Institution Experience. 61
29208403 2018
13
CNS relapse of diffuse large B cell Lymphoma A single centre experience. 61
29492077 2017
14
RB but not R-HCVAD is a feasible induction regimen prior to auto-HCT in frontline MCL: results of SWOG Study S1106. 61
27992063 2017
15
Hyper-CVAD plus ponatinib versus hyper-CVAD plus dasatinib as frontline therapy for patients with Philadelphia chromosome-positive acute lymphoblastic leukemia: A propensity score analysis. 61
27479888 2016
16
Rituximab plus hyper-CVAD alternating with MTX/Ara-C in patients with newly diagnosed mantle cell lymphoma: 15-year follow-up of a phase II study from the MD Anderson Cancer Center. 61
26648336 2016
17
Plerixafor in combination with granulocyte-colony-stimulating factor after chemotherapy increases mobilization efficiency in patients with lymphoma or myeloma: results of a Phase II clinical trial. 61
26331348 2015
18
Single-institution experience in the treatment of primary mediastinal B cell lymphoma treated with immunochemotherapy in the setting of response assessment by 18fluorodeoxyglucose positron emission tomography. 61
25863759 2015
19
Intensive chemotherapy and consolidation with high dose therapy and autologous stem cell transplant in patients with mantle cell lymphoma. 61
24828864 2015
20
Could treatment with R-HCVAD/R-MA as compared to R- CHOP truly result in improved outcomes for patients with high-risk diffuse large B cell lymphoma? - Response to Landsburg et al. 61
24329994 2014
21
Could treatment with R-HCVAD/R-MA as compared to R-CHOP truly result in improved outcomes for patients with high-risk diffuse large B cell lymphoma? 61
24354694 2014
22
HCVAD plus imatinib or dasatinib in lymphoid blastic phase chronic myeloid leukemia. 61
24151050 2014
23
Rituximab, cyclophosphamide-fractionated, vincristine, doxorubicin and dexamethasone alternating with rituximab, methotrexate and cytarabine overcomes risk features associated with inferior outcomes in treatment of newly diagnosed, high-risk diffuse large B-cell lymphoma. 61
23488604 2013
24
Prospective phase II study of rituximab with alternating cycles of hyper-CVAD and high-dose methotrexate with cytarabine for young patients with high-risk diffuse large B-cell lymphoma. 61
24117234 2013
25
Rituximab plus HyperCVAD alternating with high dose cytarabine and methotrexate for the initial treatment of patients with mantle cell lymphoma, a multicentre trial from Gruppo Italiano Studio Linfomi. 61
22145911 2012
26
[Acute lymphoblastic leukemia: experience in adult patients treated with hyperCVAD and 0195 Protocol, at the Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán. Cohort 2003-2007]. 61
19378832 2008
27
Persistence of peripheral blood and bone marrow blasts during remission induction in adult acute lymphoblastic leukemia confers a poor prognosis depending on treatment intensity. 61
10499624 1999

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

GO Terms for Hypercarotenemia and Vitamin a Deficiency, Autosomal Dominant

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
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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