ADHVAD
MCID: HYP276
MIFTS: 34

Hypercarotenemia and Vitamin a Deficiency, Autosomal Dominant (ADHVAD)

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
Hypercarotenemia and Hypovitaminosis a 75
Adhvad 75
Hcvad 57

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 hereditary hypercarotenemia and vitamin a deficiency and keratomalacia. An important gene associated with Hypercarotenemia and Vitamin a Deficiency, Autosomal Dominant is BCO1 (Beta-Carotene Oxygenase 1). Affiliated tissues include skin, liver 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 51)
# Related Disease Score Top Affiliating Genes
1 hereditary hypercarotenemia and vitamin a deficiency 12.2
2 keratomalacia 12.1
3 hypercarotenemia and vitamin a deficiency, autosomal recessive 12.1
4 xerophthalmia 11.4
5 night blindness 11.1
6 pagod syndrome 11.1
7 microphthalmia 11.0
8 corneal ulcer 11.0
9 darier-white disease 10.4
10 b-cell lymphomas 10.0
11 diffuse large b-cell lymphoma 10.0
12 lymphoma 10.0
13 leukemia 9.9
14 myeloid leukemia 9.9
15 aging 9.8
16 protein-energy malnutrition 9.8
17 cystic fibrosis 9.6
18 hypervitaminosis a 9.6
19 fundus dystrophy 9.6
20 measles 9.6
21 fundus albipunctatus 9.5
22 cerebellar hypoplasia 9.5
23 pontocerebellar hypoplasia, type 3 9.5
24 human immunodeficiency virus type 1 9.5
25 malaria 9.5
26 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.5
27 autoimmune hepatitis 9.5
28 common variable immunodeficiency 9.5
29 hepatitis 9.5
30 pontocerebellar hypoplasia 9.5
31 sensorineural hearing loss 9.5
32 giardiasis 9.5
33 trachoma 9.5
34 acquired night blindness 9.5
35 goiter 9.5
36 endemic goiter 9.5
37 kwashiorkor 9.5
38 plasmodium falciparum malaria 9.5
39 optic nerve disease 9.5
40 hyperostosis 9.5
41 vaginitis 9.5
42 iron metabolism disease 9.5
43 cervicitis 9.5
44 adenocarcinoma 9.5
45 retinitis 9.5
46 vaginal discharge 9.5
47 thyroiditis 9.5
48 hereditary retinal dystrophy 9.5
49 neuropathy 9.5
50 zellweger syndrome 9.5

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

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
Skin, Liver, Lung, Testes, T Cells, Fetal Lung, Pancreas

Publications for Hypercarotenemia and Vitamin a Deficiency, Autosomal Dominant

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

(show top 50) (show all 116)
# Title Authors Year
1
Unusual manifestation of vitamin A deficiency presenting with generalized xerosis without night blindness. ( 29744078 )
2018
2
Vitamin A deficiency due to bi-allelic mutation of RBP4: There's more to it than meets the eye. ( 27892788 )
2017
3
Vitamin A deficiency and xerophthalmia in children of a developed country. ( 27439630 )
2016
4
Keratomalacia in a Patient With Psychogenic Vitamin A Deficiency. ( 26785304 )
2016
5
Night blindness due to vitamin A deficiency associated with resected adenocarcinoma of the pancreas. ( 25709934 )
2015
6
Unilateral compressive optic neuropathy due to skull hyperostosis secondary to nutritional vitamin A deficiency. ( 26136803 )
2015
7
Xerophthalmia and vitamin A deficiency in an autistic child with a restricted diet. ( 26438671 )
2015
8
Severe vitamin A deficiency in a child presenting as xerophthalmia. ( 25074858 )
2014
9
Vitamin A deficiency modulates iron metabolism via ineffective erythropoiesis. ( 24998947 )
2014
10
Night blindness due to vitamin A deficiency associated with copper deficiency myelopathy secondary to bowel bypass surgery. ( 24781845 )
2014
11
Gestational vitamin A deficiency: A novel cause of sensorineural hearing loss in the developing world? ( 24120698 )
2014
12
Circadian rhythms of locomotor activity and hippocampal clock genes expression are dampened in vitamin A-deficient rats. ( 24774069 )
2014
13
Xerophthalmia and keratomalacia secondary to diet-induced vitamin A deficiency in Scottish adults. ( 24513368 )
2014
14
The potential of orange-fleshed sweet potato to prevent vitamin A deficiency in Africa. ( 25835237 )
2014
15
Vitamin a deficiency and xerophthalmic fundus in autoimmune hepatitis and cirrhosis. ( 25372429 )
2014
16
Severe measles, vitamin A deficiency, and the Roma community in Europe. ( 22932125 )
2012
17
Epidemiology of vitamin A deficiency and xerophthalmia in at-risk populations. ( 22326691 )
2012
18
Vitamin A deficiency associated with urinary retinol binding protein wasting in Dent's disease. ( 22350370 )
2012
19
Three cases of cerebellar hypoplasia and vitamin a deficiency: a case report and a possible pathophysiology. ( 21464234 )
2011
20
Pontocerebellar hypoplasia type 3 with severe vitamin A deficiency. ( 21215917 )
2011
21
Xerophthalmia and Intracranial Hypertension in an Autistic Child with Vitamin A Deficiency. ( 20411868 )
2010
22
Xerophthalmia because of dietary-induced vitamin a deficiency in a young Scottish man. ( 20489600 )
2010
23
Vitamin A deficiency and other factors associated with severe tuberculosis in Timor and Rote Islands, East Nusa Tenggara Province, Indonesia. ( 19471295 )
2009
24
Plasma turnover of 3,4-didehydroretinol (vitamin A2) increases in vitamin A-deficient rats fed low versus high dietary fat. ( 19043141 )
2009
25
Fundus white spots and acquired night blindness due to vitamin A deficiency. ( 19809843 )
2009
26
Vitamin A deficiency in an infant with PAGOD syndrome. ( 19760653 )
2009
27
Corneal ulceration due to vitamin A deficiency in Zellweger syndrome. ( 19541270 )
2009
28
Feasibility of using retinol-binding protein from capillary blood specimens to estimate serum retinol concentrations and the prevalence of vitamin A deficiency in low-resource settings. ( 18410697 )
2008
29
Vitamin A deficiency does not influence longitudinal growth in mice. ( 17499973 )
2007
30
Neonatal-age treatment with vitamin A delays postweaning vitamin A deficiency and increases the antibody response to T-cell dependent antigens in young adult rats fed a vitamin A-deficient diet. ( 17449586 )
2007
31
Plasma alpha1-acid glycoprotein can be used to adjust inflammation-induced hyporetinolemia in vitamin A-sufficient, but not vitamin A-deficient or -supplemented rats. ( 16772457 )
2006
32
Vitamin a deficiency phrynoderma associated with chronic giardiasis. ( 16918630 )
2006
33
Maternal vitamin A deficiency and neonatal microphthalmia: complications of biliopancreatic diversion? ( 16718478 )
2006
34
Anaemia, iron status and vitamin A deficiency among adolescent refugees in Kenya and Nepal. ( 16480530 )
2006
35
The enhancing role of vitamin A deficiency on chemically induced nephroblastoma in rats. ( 16338327 )
2005
36
Disruption of the lecithin:retinol acyltransferase gene makes mice more susceptible to vitamin A deficiency. ( 16174770 )
2005
37
Distinct roles for hindbrain and paraxial mesoderm in the induction and patterning of the inner ear revealed by a study of vitamin-A-deficient quail. ( 16039643 )
2005
38
Pathways of vitamin A delivery to the embryo: insights from a new tunable model of embryonic vitamin A deficiency. ( 15994349 )
2005
39
Vitamin a deficiency in patients with common variable immunodeficiency. ( 15981093 )
2005
40
Keratomalacia in a neonate secondary to maternal vitamin A deficiency. ( 16272665 )
2005
41
Vitamin A deficiency and xerophthalmia among school-aged children in Southeastern Asia. ( 15054414 )
2004
42
Use of serum retinol-binding protein for prediction of vitamin A deficiency: effects of HIV-1 infection, protein malnutrition, and the acute phase response. ( 14749226 )
2004
43
Vitamin A deficiency and inflammatory markers among preschool children in the Republic of the Marshall Islands. ( 15588289 )
2004
44
The effects of vitamin A deficiency and vitamin A supplementation on thyroid function in goitrous children. ( 15531495 )
2004
45
Validation of night blindness reports among children and women in a vitamin A deficient population in rural Tanzania. ( 14985678 )
2004
46
Vitamin A deficiency presenting as night blindness during pregnancy. ( 12803847 )
2003
47
Retinoid receptors and vitamin A deficiency: differential patterns of transcription during early avian development and the rapid induction of RARs by retinoic acid. ( 12921748 )
2003
48
In vivo studies of altered expression patterns of p53 and proliferative control genes in chronic vitamin A deficiency and hypervitaminosis. ( 12654005 )
2003
49
Night blindness, vitamin A deficiency, and isotretinoin psychotoxicity. ( 14996403 )
2003
50
PAGOD syndrome: eighth case and comparison to animal models of congenital vitamin A deficiency. ( 11891692 )
2002

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

GO Terms for Hypercarotenemia and Vitamin a Deficiency, Autosomal Dominant

Sources for Hypercarotenemia and Vitamin a Deficiency, Autosomal Dominant

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7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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36 IUPHAR
37 KEGG
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44 MeSH
45 MESH via Orphanet
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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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