MCID: KRT002
MIFTS: 55

Keratomalacia

Categories: Rare diseases, Metabolic diseases, Eye diseases

Aliases & Classifications for Keratomalacia

Summaries for Keratomalacia

MedlinePlus : 40 Vitamins are substances that your body needs to grow and develop normally. Vitamin A plays a role in your Vision Bone growth Reproduction Cell functions Immune system Vitamin A is an antioxidant. It can come from plant or animal sources. Plant sources include colorful fruits and vegetables. Animal sources include liver and whole milk. Vitamin A is also added to foods like cereals. Vegetarians, young children, and alcoholics may need extra Vitamin A. You might also need more if you have certain conditions, such as liver diseases, cystic fibrosis, and Crohn's disease. Check with your health care provider to see if you need to take vitamin A supplements. NIH: National Institutes of Health Office of Dietary Supplements

MalaCards based summary : Keratomalacia, also known as vitamin a deficiency, is related to xerophthalmia and marasmus, and has symptoms including visual manifestations, visual disturbance and metamorphopsia. An important gene associated with Keratomalacia is RBP4 (Retinol Binding Protein 4), and among its related pathways/superpathways are Metabolism of fat-soluble vitamins and Adipogenesis. The drugs Epinephrine and Prednisolone have been mentioned in the context of this disorder. Affiliated tissues include liver, eye and bone, and related phenotypes are reproductive system and vision/eye

Wikipedia : 72 Keratomalacia is an eye disorder that results from vitamin A deficiency. Vitamin A is required to... more...

Related Diseases for Keratomalacia

Diseases related to Keratomalacia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 118)
# Related Disease Score Top Affiliating Genes
1 xerophthalmia 30.8 DNASE1L1 RHO
2 marasmus 29.7 TF TTR
3 kwashiorkor 29.7 TF TTR
4 phenylketonuria 29.6 PAH QDPR TTR
5 congenital stationary night blindness 12.7
6 night blindness 12.7
7 night blindness, congenital stationary, type 1a 12.6
8 hereditary night blindness 12.6
9 night blindness, congenital stationary, type 1b 12.6
10 x-linked congenital stationary night blindness 12.6
11 night blindness, congenital stationary, type 2a 12.6
12 night blindness, congenital stationary, type 1e 12.6
13 night blindness, congenital stationary, autosomal dominant 2 12.5
14 night blindness, congenital stationary, type 1d 12.5
15 night blindness, congenital stationary, type 1f 12.5
16 autosomal recessive congenital stationary night blindness 12.5
17 night blindness, congenital stationary, autosomal dominant 3 12.4
18 night blindness, congenital stationary, autosomal dominant 1 12.4
19 night blindness, congenital stationary, type 1h 12.4
20 night blindness, congenital stationary, type 1c 12.4
21 autosomal dominant congenital stationary night blindness 12.4
22 night blindness, congenital stationary, type 1g 12.4
23 night blindness-skeletal anomalies-dysmorphism syndrome 12.3
24 acquired night blindness 12.2
25 oguchi disease 1 12.1
26 chondroectodermal dysplasia with night blindness 12.1
27 cone-rod synaptic disorder, congenital nonprogressive 11.9
28 oguchi disease 2 11.9
29 retinal cone dystrophy 3a 11.7
30 retinal cone dystrophy 3b 11.7
31 fundus albipunctatus 11.4
32 choroideremia 11.4
33 retinitis pigmentosa 11.3
34 refsum disease, classic 11.2
35 melanoma-associated retinopathy 11.2
36 bietti crystalline corneoretinal dystrophy 11.0
37 gyrate atrophy of choroid and retina 11.0
38 enhanced s-cone syndrome 11.0
39 late-onset retinal degeneration 11.0
40 cone-rod dystrophy 16 11.0
41 cone-rod dystrophy 2 10.8
42 wagner vitreoretinopathy 10.8
43 retinitis pigmentosa 9 10.8
44 leber congenital amaurosis 2 10.8
45 jalili syndrome 10.8
46 senior-loken syndrome 1 10.8
47 retinitis pigmentosa 3 10.8
48 nystagmus 1, congenital, x-linked 10.8
49 retinitis pigmentosa 2 10.8
50 birdshot chorioretinopathy 10.8

Graphical network of the top 20 diseases related to Keratomalacia:



Diseases related to Keratomalacia

Symptoms & Phenotypes for Keratomalacia

UMLS symptoms related to Keratomalacia:


visual manifestations, visual disturbance, metamorphopsia, subjective visual disturbance, unspecified, amaurosis fugax, photophobia, other specified visual disturbances

MGI Mouse Phenotypes related to Keratomalacia:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 reproductive system MP:0005389 9.5 CYP26A1 KALRN LRAT PAH RARA RARB
2 vision/eye MP:0005391 9.17 LRAT PAH RARA RARB RBP4 RHO

Drugs & Therapeutics for Keratomalacia

Drugs for Keratomalacia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 89)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
2
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
3
Albendazole Approved, Vet_approved Phase 4 54965-21-8 2082
4
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
5 Racepinephrine Approved Phase 4 329-65-7
6
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2,Early Phase 1 68-26-8, 11103-57-4 445354
7 Retinol palmitate Phase 4,Phase 3,Phase 2,Early Phase 1
8 Micronutrients Phase 4,Phase 3,Phase 2,Early Phase 1
9 Trace Elements Phase 4,Phase 3,Phase 2,Early Phase 1
10 Vitamins Phase 4,Phase 3,Phase 2,Early Phase 1
11 Protective Agents Phase 4,Phase 3,Phase 2,Early Phase 1
12 Antioxidants Phase 4,Phase 3,Phase 2,Early Phase 1
13 Prednisolone acetate Phase 4
14 glucocorticoids Phase 4,Phase 2
15 Methylprednisolone acetate Phase 4
16 Methylprednisolone Hemisuccinate Phase 4
17 Gastrointestinal Agents Phase 4,Phase 2
18 Neuroprotective Agents Phase 4
19 Hormone Antagonists Phase 4,Phase 2
20 Hormones Phase 4,Phase 2
21 Anthelmintics Phase 4
22 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2
23 Peripheral Nervous System Agents Phase 4,Phase 2
24 Epinephryl borate Phase 4
25 Antiemetics Phase 4,Phase 2
26 Anti-Infective Agents Phase 4
27 Prednisolone hemisuccinate Phase 4
28 Prednisolone phosphate Phase 4
29 Anti-Inflammatory Agents Phase 4,Phase 2
30 Antimitotic Agents Phase 4
31 Antineoplastic Agents, Hormonal Phase 4,Phase 2
32 Antiprotozoal Agents Phase 4
33 Antiparasitic Agents Phase 4
34 Autonomic Agents Phase 4,Phase 2
35 retinol Nutraceutical Phase 4,Phase 3,Phase 2,Early Phase 1
36
Iron Approved Phase 2, Phase 3, Early Phase 1 7439-89-6 23925
37
leucovorin Approved, Nutraceutical Phase 3 58-05-9 143 6006
38 Tocopherol Approved, Investigational, Nutraceutical Phase 2, Phase 3
39
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
40
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 59-02-9 14985
41
B-Carotene Approved, Nutraceutical Phase 3,Phase 2 7235-40-7 5280489
42 Orange Approved, Nutraceutical Phase 3
43 Vaccines Phase 2, Phase 3
44 Carotenoids Phase 3,Phase 2
45 Ferrous fumarate Phase 3
46 Tin Fluorides Phase 2, Phase 3
47 Tocopherols Phase 2, Phase 3
48 Tocotrienols Phase 2, Phase 3
49 Hematinics Phase 3
50 Vitamin B Complex Phase 3

Interventional clinical trials:

(show top 50) (show all 64)

# 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 Efficacy of β-carotene Biofortified Maize in Reducing Vitamin A Deficiency Among Children Completed NCT01695148 Phase 3
4 Efficacy of Biofortified Maize to Improve Maternal and Infant Vitamin A Status Completed NCT02804490 Phase 3
5 Stopping Postpartum Vitamin A Supplementation: Missing Concealed Benefit Completed NCT02043223 Phase 2, Phase 3
6 Impact of Maternal Supplementation With Dual Megadose of Vitamin A Completed NCT00742937 Phase 2, Phase 3
7 Trial of the Impact of Vitamin A on Maternal Mortality Completed NCT00211341 Phase 3
8 Impact of Maternal Vitamin A or Beta-Carotene Supplementation on Maternal and Infant Mortality in Bangladesh Completed NCT00198822 Phase 3
9 Sub-clinical Inflammation and Iron Supplementation Completed NCT01198574 Phase 3
10 Community Trial of Newborn Vitamin A Supplementation to Reduce Infant Mortality in Rural Bangladesh Terminated NCT00128557 Phase 3 vitamin A supplementation (50,000 IU)
11 Effect of Vitamin A Supplementation on Immune Responses in Human Neonates Unknown status NCT01476358 Phase 2
12 Vitamin A Absorption From Cassava in Women Completed NCT01381276 Phase 2
13 Vitamin A Equivalence of Plant Carotenoids in Children Completed NCT00680212 Phase 2
14 Vitamin A to Reduce HIV in Vaginal Secretions and Prevent Viral Transmission Completed NCT00053612 Phase 2 Vitamin A
15 Single-dose Postpartum Vitamin A Supplementation of Mothers and Neonates Active, not recruiting NCT00198718 Phase 2 Vitamin A (retinyl palmitate)
16 Intravitreal Dexamethasone Implant in Retinitis Pigmentosa-related Macular Edema- a Retrospective Study Enrolling by invitation NCT02804360 Phase 2
17 Gene Therapy for Gyrate Atrophy Completed NCT00001735 Phase 1
18 Evaluation of Safety of Ciliary Neurotrophic Factor Implants in the Eye Completed NCT00063765 Phase 1 Ciliary Neurotrophic Factor Implant NT-501
19 Vitamin A Supplementation in Preterm Infants Unknown status NCT00063596 Vitamin A supplementation
20 Nutributter Programming to Prevent Undernutrition: an Evaluation Unknown status NCT01552512
21 Treatment of Congenital Stationary Night Blindness With an Alga Containing High Dose of Beta Carotene Completed NCT00569023
22 Using Stable Isotope Techniques to Monitor and Assess the Vitamin A Status of Children Susceptible to Infection Completed NCT02363985
23 Efficacy of Newborn Vitamin A Supplementation in Improving Immune Function Completed NCT01583972
24 Efficacy of Vitamin A in Fortified Extruded Rice in School Children Completed NCT01199445 Early Phase 1
25 Newborn Vitamin A (VA) Supplementation Pilot Project, Pakistan Completed NCT00674089
26 Dietary Vitamin A Requirement in Chinese Children and the New Technology of Dietary Assessment Completed NCT01559766
27 Vitamin A, Stool Microbiota and Vaccine Response in Bangladeshi Infants Completed NCT02027610
28 An Efficacy Trial of Iron, Zinc and Vitamin A Fortified Rice in Children in Satun, Thailand Completed NCT01061307 Early Phase 1
29 Retinol Equivalence of Plant Carotenoids in Children Completed NCT00082420
30 Vitamin A Liver Reserves and Serum Markers of Vitamin A in US Adults at Time of Death Completed NCT03305042
31 The Efficacy of Pro-vitamin A Biofortified Cassava on Vitamin A Status in Nigerian Preschool Children Completed NCT02627222
32 Efficacy of Yellow Cassava to Improve Vitamin A Status of Kenyan School Children Completed NCT01614483
33 Using Stable Isotopes to Assess the Effectiveness of Vitamin A Supplementation in Cameroon Completed NCT03383744
34 Vitamin A Equivalence of the Provitamin A in Biofortified Bananas Completed NCT02702622
35 Beta-carotene Absorption and Bioconversion to Vitamin A From Biofortified Cassava Gari Completed NCT02210507
36 Effect of Daily Consumption of Orange Maize on Breast Milk Retinol in Lactating Zambian Women Completed NCT01922713
37 Vitamin A Bioavailability in Lactating Women With Marginal Vitamin A Status Completed NCT01420406
38 Impact of Consumption of Orange-fleshed Sweet Potatoes on the Vitamin A Status of Bangladeshi Women of Reproductive Age Completed NCT00453648
39 Evaluation of a Night Spectacle Correction Concerning an Improvement of Mesopic Vision Quality Completed NCT02965534
40 Visual Activity Evoked by Infrared in Humans After Dark Adaptation Completed NCT02909985
41 Effect of SNPs in the BCMO1 Enzyme Completed NCT02276014
42 Assessing Model Parameters for Applying the Retinol Isotope Dilution (RID) Method Completed NCT02996513
43 A Study on Immunological Effect of Vitamin A and Zinc in a Placebo Controlled 4 Cell Trial Completed NCT00374023 Zinc, or Vitamin A or both
44 Making Maternal Post-partum Vitamin A Supplementation Effective: The Role of Timing and Inflammation Completed NCT00952640
45 Vitamin A and Maternal-infant Flu Vaccine Response Completed NCT00817661
46 Oral Vitamin A Supplementation in Neonates With Birth Weight < 1500 g Completed NCT02102711
47 High/Low Dose Vit A in Diarrhea/ALRI in Severe PEM Completed NCT00388921 Vitamin A
48 Newly Formulated, Extruded Fortified-blended Foods for Food Aid: the MFFAPP Tanzania Efficacy Study Completed NCT02847962
49 A Randomized Controlled Trial Testing The Effect Of A Multi-Nutrient Fortified Juice Completed NCT01909063
50 The Effects of Biscuits Containing Red Palm Oil on School Children With Vitamin A Deficiency in West and East Malaysia Recruiting NCT03256123

Search NIH Clinical Center for Keratomalacia

Inferred drug relations via UMLS 69 / NDF-RT 47 :


Cochrane evidence based reviews: keratomalacia

Genetic Tests for Keratomalacia

Anatomical Context for Keratomalacia

MalaCards organs/tissues related to Keratomalacia:

38
Liver, Eye, Bone, Breast, Testes, Pancreas, Skin

Publications for Keratomalacia

Articles related to Keratomalacia:

(show top 50) (show all 166)
# Title Authors Year
1
Vitamin A deficiency due to bi-allelic mutation of RBP4: There's more to it than meets the eye. ( 27892788 )
2017
2
Keratomalacia in a Patient With Psychogenic Vitamin A Deficiency. ( 26785304 )
2016
3
Vitamin A deficiency and xerophthalmia in children of a developed country. ( 27439630 )
2016
4
Night blindness due to vitamin A deficiency associated with resected adenocarcinoma of the pancreas. ( 25709934 )
2015
5
Severe keratomalacia after 12 months of continuous hydrogel contact lens wear in a psychiatric patient. ( 25467290 )
2015
6
Xerophthalmia and vitamin A deficiency in an autistic child with a restricted diet. ( 26438671 )
2015
7
Unilateral compressive optic neuropathy due to skull hyperostosis secondary to nutritional vitamin A deficiency. ( 26136803 )
2015
8
Night blindness due to vitamin A deficiency associated with copper deficiency myelopathy secondary to bowel bypass surgery. ( 24781845 )
2014
9
Porcine urinary bladder extracellular matrix grafts (ACell Vet(Ar) Corneal Discs) for keratomalacia in 17 equids (2012-2013). ( 25429917 )
2014
10
Gestational vitamin A deficiency: A novel cause of sensorineural hearing loss in the developing world? ( 24120698 )
2014
11
Vitamin a deficiency and xerophthalmic fundus in autoimmune hepatitis and cirrhosis. ( 25372429 )
2014
12
Xerophthalmia and keratomalacia secondary to diet-induced vitamin A deficiency in Scottish adults. ( 24513368 )
2014
13
Severe vitamin A deficiency in a child presenting as xerophthalmia. ( 25074858 )
2014
14
Sociodemographic features and risk factor profile of keratomalacia in early infancy. ( 22406941 )
2012
15
Vitamin A deficiency associated with urinary retinol binding protein wasting in Dent's disease. ( 22350370 )
2012
16
Epidemiology of vitamin A deficiency and xerophthalmia in at-risk populations. ( 22326691 )
2012
17
Severe measles, vitamin A deficiency, and the Roma community in Europe. ( 22932125 )
2012
18
360-degree conjunctival grafting for management of diffuse keratomalacia in a dog. ( 21521447 )
2011
19
Pontocerebellar hypoplasia type 3 with severe vitamin A deficiency. ( 21215917 )
2011
20
Three cases of cerebellar hypoplasia and vitamin a deficiency: a case report and a possible pathophysiology. ( 21464234 )
2011
21
Xerophthalmia because of dietary-induced vitamin a deficiency in a young Scottish man. ( 20489600 )
2010
22
Ciliary hypertrichosis in a child with keratomalacia. ( 21092399 )
2010
23
Xerophthalmia and Intracranial Hypertension in an Autistic Child with Vitamin A Deficiency. ( 20411868 )
2010
24
Vitamin A deficiency and other factors associated with severe tuberculosis in Timor and Rote Islands, East Nusa Tenggara Province, Indonesia. ( 19471295 )
2009
25
Corneal ulceration due to vitamin A deficiency in Zellweger syndrome. ( 19541270 )
2009
26
Fundus white spots and acquired night blindness due to vitamin A deficiency. ( 19809843 )
2009
27
Vitamin A deficiency in an infant with PAGOD syndrome. ( 19760653 )
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
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
30
Use of amniotic membrane graft and corneal transplantation in a patient with bilateral keratomalacia induced by uncontrolled phenylketonuria. ( 17525666 )
2007
31
Keratomalacia caused by psychiatric-induced dietary restrictions. ( 17721303 )
2007
32
Vitamin A deficiency does not influence longitudinal growth in mice. ( 17499973 )
2007
33
Vitamin a deficiency phrynoderma associated with chronic giardiasis. ( 16918630 )
2006
34
Anaemia, iron status and vitamin A deficiency among adolescent refugees in Kenya and Nepal. ( 16480530 )
2006
35
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
36
Maternal vitamin A deficiency and neonatal microphthalmia: complications of biliopancreatic diversion? ( 16718478 )
2006
37
Equine amniotic membrane transplantation for corneal ulceration and keratomalacia in three horses. ( 16178841 )
2005
38
Pathways of vitamin A delivery to the embryo: insights from a new tunable model of embryonic vitamin A deficiency. ( 15994349 )
2005
39
Advanced keratomalacia with descemetocele in an infant with cystic fibrosis. ( 16009849 )
2005
40
The enhancing role of vitamin A deficiency on chemically induced nephroblastoma in rats. ( 16338327 )
2005
41
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
42
Vitamin a deficiency in patients with common variable immunodeficiency. ( 15981093 )
2005
43
Keratomalacia in a neonate secondary to maternal vitamin A deficiency. ( 16272665 )
2005
44
Disruption of the lecithin:retinol acyltransferase gene makes mice more susceptible to vitamin A deficiency. ( 16174770 )
2005
45
Validation of night blindness reports among children and women in a vitamin A deficient population in rural Tanzania. ( 14985678 )
2004
46
Inflammatory stromal keratopathies: medical management of stromal keratomalacia, stromal abscesses, eosinophilic keratitis, and band keratopathy in the horse. ( 15271427 )
2004
47
Vitamin A deficiency and xerophthalmia among school-aged children in Southeastern Asia. ( 15054414 )
2004
48
The effects of vitamin A deficiency and vitamin A supplementation on thyroid function in goitrous children. ( 15531495 )
2004
49
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
50
Vitamin A deficiency and inflammatory markers among preschool children in the Republic of the Marshall Islands. ( 15588289 )
2004

Variations for Keratomalacia

Expression for Keratomalacia

Search GEO for disease gene expression data for Keratomalacia.

Pathways for Keratomalacia

GO Terms for Keratomalacia

Cellular components related to Keratomalacia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.28 DNASE1L1 KALRN PAH PCK2 QDPR RARS

Biological processes related to Keratomalacia according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.69 LRAT RBP4 RHO
2 outflow tract septum morphogenesis GO:0003148 9.49 RARA RARB
3 retinoic acid metabolic process GO:0042573 9.48 CYP26A1 LRAT
4 retinoic acid receptor signaling pathway GO:0048384 9.46 RARA RARB
5 regulation of myelination GO:0031641 9.43 RARA RARB
6 L-phenylalanine catabolic process GO:0006559 9.4 PAH QDPR
7 negative regulation of cartilage development GO:0061037 9.37 RARA RARB
8 growth plate cartilage development GO:0003417 9.32 RARA RARB
9 ventricular cardiac muscle cell differentiation GO:0055012 9.26 RARA RARB
10 glandular epithelial cell development GO:0002068 9.16 RARA RARB
11 retinol metabolic process GO:0042572 9.13 LRAT RBP4 TTR
12 retinoid metabolic process GO:0001523 8.92 LRAT RBP4 RHO TTR

Molecular functions related to Keratomalacia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 retinol binding GO:0019841 9.16 LRAT RBP4
2 retinoic acid receptor activity GO:0003708 8.96 RARA RARB
3 retinoic acid binding GO:0001972 8.8 CYP26A1 LRAT RARA

Sources for Keratomalacia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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