HCVAD
MCID: HYP276
MIFTS: 57

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 75 29 13 6 40
Vitamin a Deficiency 44 73
Hcvad 57 75
Hypercarotenemia and Hypovitaminosis a 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
hypercarotenemia and vitamin a deficiency, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 115300
MeSH 44 D014802
UMLS 73 C0042842

Summaries for Hypercarotenemia and Vitamin a Deficiency, Autosomal Dominant

UniProtKB/Swiss-Prot : 75 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. Affiliated tissues include bone, kidney and liver, 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 104)
# Related Disease Score Top Affiliating Genes
1 keratomalacia 33.5 TTR RBP4
2 hypervitaminosis a 29.4 TTR RBP4 RARS
3 hereditary hypercarotenemia and vitamin a deficiency 12.4
4 hypercarotenemia and vitamin a deficiency, autosomal recessive 12.2
5 xerophthalmia 11.6
6 night blindness 11.3
7 pagod syndrome 11.2
8 microphthalmia 11.2
9 corneal ulcer 10.9
10 darier-white disease 10.5
11 b-cell lymphomas 10.2
12 diffuse large b-cell lymphoma 10.2
13 diarrhea 10.1
14 cystic fibrosis 10.1
15 leukemia 10.0
16 myeloid leukemia 10.0
17 iron metabolism disease 10.0
18 viral infectious disease 10.0
19 newcastle disease 10.0
20 human immunodeficiency virus type 1 9.9
21 malaria 9.9
22 protein-energy malnutrition 9.9
23 hepatitis 9.9
24 influenza 9.9
25 measles 9.9
26 hepatitis c virus 9.8
27 deficiency anemia 9.8
28 crohn's disease 9.8
29 liver disease 9.8
30 hepatitis c 9.8
31 teratocarcinoma 9.8 RARB RARA
32 small cell cancer of the lung 9.7
33 lung cancer 9.7
34 asthma 9.7
35 yemenite deaf-blind hypopigmentation syndrome 9.7
36 gastric cancer 9.7
37 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.7
38 liver cirrhosis 9.7
39 colitis 9.7
40 trachoma 9.7
41 tetanus 9.7
42 goiter 9.7
43 kwashiorkor 9.7
44 hypothyroidism 9.7
45 adenocarcinoma 9.7
46 fundus dystrophy 9.7
47 herpes simplex 9.7
48 degos 'en cocarde' erythrokeratoderma 9.7
49 embryonal carcinoma 9.7 RARS RARB RARA
50 alzheimer disease 9.6

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

Symptoms via clinical synopsis from OMIM:

57
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

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

32
# Description HPO Frequency HPO Source Accession
1 abnormality of the skin 32 HP:0000951
2 vitamin a deficiency 32 HP:0004905

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:

46
# 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

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

Inferred drug relations via UMLS 73 / NDF-RT 51 :


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:

41
Bone, Kidney, Liver, Heart, Endothelial, Breast, Lung

Publications for Hypercarotenemia and Vitamin a Deficiency, Autosomal Dominant

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

(show top 50) (show all 1010)
# Title Authors Year
1
Unusual manifestation of vitamin A deficiency presenting with generalized xerosis without night blindness. ( 29744078 )
2018
2
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
3
Night Blindness, Bitot's Spot & Vitamin A Deficiency. ( 30265370 )
2018
4
Identification of Competing Endogenous RNA Regulatory Networks in Vitamin A Deficiency-Induced Congenital Scoliosis by Transcriptome Sequencing Analysis. ( 30110682 )
2018
5
Roux-en-Y Gastric Bypass Aggravates Vitamin A Deficiency in the Mother-Child Group. ( 28676956 )
2018
6
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
7
Conjunctival xerosis caused by vitamin A deficiency. ( 28939634 )
2018
8
Hormonal contraceptive use and vitamin A deficiency among women in Tanzania. ( 29159927 )
2018
9
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
10
Vitamin A deficiency in mice alters host and gut microbial metabolism leading to altered energy homeostasis. ( 29227833 )
2018
11
Vitamin A Deficiency Induces Autistic-Like Behaviors in Rats by Regulating the RARβ-CD38-Oxytocin Axis in the Hypothalamus. ( 29266770 )
2018
12
Wood's lamp examination: a novel diagnostic approach to detect Bitot's spots in vitamin A deficiency. ( 29327494 )
2018
13
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
14
REVERSIBLE NYCTALOPIA ASSOCIATED WITH VITAMIN A DEFICIENCY AFTER RESECTED MALIGNANT ILEAL CARCINOID AND PANCREATIC ADENOCARCINOMA. ( 29554055 )
2018
15
Vitamin A Deficiency Due to Selective Eating as a Cause of Blindness in a High-Income Setting. ( 29610168 )
2018
16
VITAMIN A DEFICIENCY IN BRAZILIAN CHILDREN AND ASSOCIATED VARIABLES. ( 29617474 )
2018
17
Prevalence of Vitamin A deficiency among under-five children in South-Western Nigeria. ( 29676339 )
2018
18
Developing a Model of Vitamin A Deficiency in a Hibernating Mammal, the 13-Lined Ground Squirrel (Ictidomys tridecemlineatus). ( 29801522 )
2018
19
β-apo-10'-carotenoids support normal embryonic development during vitamin A deficiency. ( 29892071 )
2018
20
Recent advances in banana (musa spp.) biofortification to alleviate vitamin A deficiency. ( 29999424 )
2018
21
Vitamin A Deficiency and the Lung. ( 30134568 )
2018
22
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
23
Vitamin A deficiency is associated with body mass index and body adiposity in women with recommended intake of vitamin A. ( 30307289 )
2018
24
Marginal Vitamin A Deficiency Affects the Expression Levels and Localization of Retinoic Acid Receptor and Retinoid X Receptor in Rats Meibomian Gland. ( 30512978 )
2018
25
Xerosis in Patient with Vitamin A Deficiency - a Case Report. ( 30541304 )
2018
26
Vitamin A deficiency due to bi-allelic mutation of RBP4: There's more to it than meets the eye. ( 27892788 )
2017
27
Vitamin A deficiency and determinants of vitamin A status in Bangladeshi children and women: findings of a national survey. ( 27890019 )
2017
28
Marginal Vitamin A Deficiency Exacerbates Memory Deficits Following Aβ1-42 Injection in Rats. ( 28017127 )
2017
29
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
30
Marginal vitamin A deficiency facilitates Alzheimer's pathogenesis. ( 28130638 )
2017
31
Vitamin A Supplementation Programs and Country-Level Evidence of Vitamin A Deficiency. ( 28245571 )
2017
32
We Need Studies of the Mortality Effect of Vitamin A Supplementation, Not Surveys of Vitamin A Deficiency. ( 28294986 )
2017
33
Vitamin A deficiency in chronic cholestatic liver disease: Is vitamin A therapy beneficial? ( 28371374 )
2017
34
Vitamin A deficiency due to chronic malabsorption: an ophthalmic manifestation of a systemic condition. ( 28490481 )
2017
35
The change in retinoic acid receptor signaling induced by prenatal marginal vitamin A deficiency and its effects on learning and memory. ( 28570942 )
2017
36
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
37
Correction: Vitamin A deficiency due to chronic malabsorption: an ophthalmic manifestation of a systemic condition. ( 28847769 )
2017
38
Tackling vitamin A deficiency with biofortified sweetpotato in sub-Saharan Africa. ( 28989861 )
2017
39
Prevnar-13 vaccine failure in a mouse model for vitamin A deficiency. ( 29032897 )
2017
40
The Effect of Red Palm Oil on Vitamin A Deficiency: A Meta-Analysis of Randomized Controlled Trials. ( 29186779 )
2017
41
The Prevalence of Vitamin A Deficiency in Chinese Children: A Systematic Review and Bayesian Meta-Analysis. ( 29186832 )
2017
42
Rapid diagnostic testing platform for iron and vitamin A deficiency. ( 29203653 )
2017
43
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
44
The vicious cycle of vitamin a deficiency: A review. ( 27128154 )
2017
45
Vitamin A deficiency and xerophthalmia in children of a developed country. ( 27439630 )
2016
46
Keratomalacia in a Patient With Psychogenic Vitamin A Deficiency. ( 26785304 )
2016
47
Effects of Donor Vitamin A Deficiency and Pharmacologic Modulation of Donor T Cell Retinoic Acid Pathway on the Severity of Experimental Graft-versus-Host Disease. ( 27596131 )
2016
48
Relationship between vitamin A deficiency and the thyroid axis in clinically stable patients with liver cirrhosis related to hepatitis C virus. ( 27557336 )
2016
49
The Molecular Mechanisms of Vitamin A Deficiency in Multiple Sclerosis. ( 27356515 )
2016
50
Vitamin A Deficiency Promotes Inflammation by Induction of Type 2 Cytokines in Experimental Ovalbumin-Induced Asthma Murine Model. ( 27525423 )
2016

Variations for Hypercarotenemia and Vitamin a Deficiency, Autosomal Dominant

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

75
# 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 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.76 BCO1 CYP26A1 LRAT RARA RARB RBP4
2
Show member pathways
13.67 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 11.14 RARA RARB
10 10.97 LRAT RBP4 TTR
11
Show member pathways
10.76 RBP4 TTR
12 10.74 BCO1 CYP26A1 LRAT RARA RARB RBP4
13 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 9.4 RARA RARB
2 nuclear receptor transcription coactivator activity GO:0030374 9.37 RARA RARB
3 steroid hormone receptor activity GO:0003707 9.32 RARA RARB
4 nuclear receptor activity GO:0004879 9.26 RARA RARB
5 retinol binding GO:0019841 9.16 LRAT RBP4
6 retinoic acid receptor activity GO:0003708 8.96 RARA RARB
7 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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