Aliases & Classifications for Ochronosis

MalaCards integrated aliases for Ochronosis:

Name: Ochronosis 12 74 52 54 43 15 71

Classifications:



External Ids:

Disease Ontology 12 DOID:14223
MeSH 43 D009794
NCIt 49 C84938
ICD10 32 E70.29
UMLS 71 C0028817

Summaries for Ochronosis

NIH Rare Diseases : 52 Ochronosis is the bluish-black or grey-blue discoloration of the skin, especially the ear cartilage, the ocular (eye) tissue , and other body locations. It can occurs in individuals with alkaptonuria , an inherited metabolic disorder ; or because of exposure to various substances. Ochronosis typically occurs in adults, but has been reported in children. Ochronosis associated with alkaptonuria is caused by a mutation in the HGD gene , which results in the accumulation and deposition of homogentisic acid (HGA) in cartilage . The affected tissue becomes weak and brittle with time, leading to chronic inflammation, joint pain, and osteoarthritis . Alkaptonuria is inherited in an autosomal recessive manner. Alkaptonuria can be diagnosed based on the symptoms, laboratory testing, and genetic testing . There is no specific treatment for ochronosis associated with alkaptonuria and treatment is based on the symptoms. When ochronosis is due to exposure to substances (called exogenous ochronosis ), the condition is not inherited. Exogenous ochronosis is associated with malarial drugs, skin-lightening creams and over-exposure to the sun. Other than the skin findings, there are no other health affects. Exogenous ochronosis is difficult to diagnose. There is no specific treatment for this condition. Several different treatment options are available including prescription skin creams, vitamins, and laser treatments.

MalaCards based summary : Ochronosis is related to alkaptonuria and dowling-degos disease 1, and has symptoms including muscle weakness, polydipsia and dry skin. An important gene associated with Ochronosis is HGD (Homogentisate 1,2-Dioxygenase), and among its related pathways/superpathways are Aldosterone synthesis and secretion and Melanocyte Development and Pigmentation. The drugs Nitisinone and Tyrosine have been mentioned in the context of this disorder. Affiliated tissues include skin, testes and eye, and related phenotype is pigmentation.

Disease Ontology : 12 A connective tissue disease characterized by bluish-brown discoloration of connective tissues that develops from the deposition of homogentisic acid and subsequent oxidation and polymerization reactions.

Wikipedia : 74 Ochronosis is a syndrome caused by the accumulation of homogentisic acid in connective tissues. The... more...

Related Diseases for Ochronosis

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

(show top 50) (show all 150)
# Related Disease Score Top Affiliating Genes
1 alkaptonuria 33.3 TYR MRAP HPD HGD
2 dowling-degos disease 1 30.4 TYRP1 TYR MITF
3 exogenous ochronosis 12.7
4 arthropathy 10.8
5 autosomal recessive disease 10.5
6 spondyloarthropathy 1 10.4
7 inflammatory spondylopathy 10.4
8 spondylitis 10.4
9 osteoarthritis 10.4
10 back pain 10.4
11 disorder of tyrosine metabolism 10.4
12 aortic valve disease 2 10.4
13 prostate calculus 10.4 HPD HGD
14 lower urinary tract calculus 10.3 HPD HGD
15 spondylosis 10.3
16 arthritis 10.3
17 neurogenic arthropathy 10.2 NAA50 NAA30
18 abdominal obesity-metabolic syndrome 1 10.2
19 chondrocalcinosis 10.2
20 gout 10.2
21 heart valve disease 10.2
22 inherited metabolic disorder 10.2
23 argyria 10.2
24 cataract 24 10.2 MRAP CRYAA
25 interstitial keratitis 10.2 MRAP CRYAA
26 urolithiasis 10.2
27 enthesopathy 10.2
28 ankylosis 10.2
29 ogden syndrome 10.1 NAA50 NAA30
30 macular dystrophy, dominant cystoid 10.1 MRAP CRYAA
31 albinism, oculocutaneous, type v 10.1 TYRP1 TYR
32 tyrosinemia, type i 10.1 TYR HPD HGD
33 blood group, globoside system 10.1 MRAP CRYAA
34 tyrosinemia 10.1 TYR HPD HGD
35 albinism, oculocutaneous, type ia 10.1 TYRP1 TYR
36 acute contagious conjunctivitis 10.1 TYRP1 TYR
37 acute conjunctivitis 10.1 TYRP1 TYR
38 rheumatoid arthritis 10.1
39 sarcoidosis 1 10.1
40 hemochromatosis, type 1 10.1
41 astigmatism 10.1
42 intraocular pressure quantitative trait locus 10.1
43 methemoglobinemia 10.1
44 spondyloarthropathy 10.1
45 nephrolithiasis 10.1
46 spondylarthropathy 10.1
47 chronic pain 10.1
48 macular retinal edema 10.1 MRAP CRYAA
49 melanocytic nevus syndrome, congenital 10.1 TYR MC1R
50 endophthalmitis 10.1 MRAP CRYAA

Graphical network of the top 20 diseases related to Ochronosis:



Diseases related to Ochronosis

Symptoms & Phenotypes for Ochronosis

UMLS symptoms related to Ochronosis:


muscle weakness, polydipsia, dry skin

MGI Mouse Phenotypes related to Ochronosis:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 8.92 MC1R MITF TYR TYRP1

Drugs & Therapeutics for Ochronosis

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nitisinone Approved, Investigational Phase 2, Phase 3 104206-65-7 115355
2
Tyrosine Approved, Investigational, Nutraceutical Phase 2 60-18-4 6057

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 An International, Multicentre, Randomised, Evaluator-blind, No-treatment Controlled, Parallel-group Study to Assess the Efficacy and Safety of Once Daily Nitisinone in Patients With Alkaptonuria After 12 Months of Treatment, Followed by an Additional 36 Month Treatment Period. Unknown status NCT01916382 Phase 3 Nitisinone
2 Nitisinone (NTBC) In Different Age Groups Of Patients With Alkaptonuria Unknown status NCT01390077 Phase 2, Phase 3 Nitisinone
3 An International, Multicentre, Randomised, Open-label, No-treatment Controlled, Parallel-group, Dose-response Study to Investigate the Effect of Once Daily Nitisinone on 24-hour Urinary Homogentisic Acid Excretion in Patients With Alkaptonuria After 4 Weeks Treatment. Completed NCT01828463 Phase 2 Nitisinone
4 Long-Term Clinical Trial of Nitisinone in Alkaptonuria Completed NCT00107783 Phase 2 Nitisinone (NTBC)
5 Clinical, Biochemical, and Molecular Investigations Into Alkaptonuria Recruiting NCT00005909
6 Determining Individualised Gait Modification Strategies to Reduce Knee Joint Moments in Alkaptonuria Patients Using Real-time Feedback Not yet recruiting NCT04142671

Search NIH Clinical Center for Ochronosis

Cochrane evidence based reviews: ochronosis

Genetic Tests for Ochronosis

Anatomical Context for Ochronosis

MalaCards organs/tissues related to Ochronosis:

40
Skin, Testes, Eye, Bone, Heart, Kidney, Prostate

Publications for Ochronosis

Articles related to Ochronosis:

(show top 50) (show all 720)
# Title Authors PMID Year
1
Exogenous Ochronosis. 52 61
26677264 2015
2
Aortic stenosis in cardiovascular ochronosis. 54 61
17213354 2007
3
Ochronotic arthropathy: disappearance of alkaptonuria after liver transplantation for hepatitis B-related cirrhosis. 54 61
16371803 2005
4
Use of nitisinone in patients with alkaptonuria. 54 61
15931605 2005
5
Alkaptonuric ochronosis: a case report. 61 54
15727283 2005
6
Minocycline-induced hyperpigmentation masquerading as alkaptonuria in individuals with joint pain. 61 54
15529343 2004
7
Alkaptonuria and lumbar disc herniation. Report of three cases. 61 54
12546396 2003
8
Natural history of alkaptonuria. 54 61
12501223 2002
9
Aortic stenosis in endogenous ochronosis. 54 61
10461246 1999
10
Hereditary ochronosis: hyperpigmented skin overlying cartilaginous structures. 54 61
10388955 1999
11
Ocular ochronosis in alkaptonuria patients carrying mutations in the homogentisate 1,2-dioxygenase gene. 54 61
10340975 1999
12
[Alkaptonuria, prostatic calculi, and ectopic ureter]. 54 61
9214216 1997
13
The clinical manifestations of ochronosis: a review. 61 54
8571731 1995
14
Alkaptonuria and renal failure: a case report and review of the literature. 54 61
1495952 1992
15
Ochronosis of the spine mimicking ankylosing spondylitis successfully treated with anakinra. 61
32147566 2020
16
Long-term follow-up of bilateral hip and knee arthroplasty secondary to ochronotic arthropathy. 61
32577465 2020
17
Total knee arthroplasty for Ochronosis induced knee arthropathy. Case report. 61
32554281 2020
18
Rare Hyperpigmentation of the Conjunctiva and Sclera: Ochronosis. 61
32330984 2020
19
Dietary restriction of tyrosine and phenylalanine lowers tyrosinemia associated with nitisinone therapy of alkaptonuria. 61
31503358 2020
20
Pigmentation Chemistry and Radical-Based Collagen Degradation in Alkaptonuria and Osteoarthritic Cartilage. 61
32219972 2020
21
Cardiovascular ochronosis. 61
32473412 2020
22
Total knee prosthesis in a patient diagnosed with ochronotic arthropathy. 61
32192929 2020
23
Presentation of 14 alkaptonuria patients from Turkey. 61
31927521 2020
24
Alkaptonuria: Current Perspectives. 61
32158253 2020
25
Incidentally Discovered Ochronosis Explaining Decades of Chronic Pain. 61
32047356 2020
26
Alkaptonuric ochronosis of the carotid artery. 61
32284865 2020
27
Homogentisic acid affects human osteoblastic functionality by oxidative stress and alteration of the Wnt/β-catenin signaling pathway. 61
31989660 2020
28
Conditional targeting in mice reveals that hepatic homogentisate 1,2-dioxygenase activity is essential in reducing circulating homogentisic acid and for effective therapy in the genetic disease alkaptonuria. 61
31600782 2019
29
Topical Treatments for Melasma: A Systematic Review of Randomized Controlled Trials 61
31741361 2019
30
[Black knee-ochronotic alterations in alkaptonuria]. 61
31332451 2019
31
Exogenous Ochronosis as an Elastotic Disease: A Light-Microscopic Approach. 61
31725487 2019
32
Management of a pseudarthrosis with sagittal malalignment in a patient with ochronotic spondyloarthropathy. 61
31175484 2019
33
The Dark Side of the Heart: Cardiovascular Manifestation of Ochronosis. 61
30926473 2019
34
Homogentisic acid is not only eliminated by glomerular filtration and tubular secretion but also produced in the kidney in alkaptonuria. 61
31609457 2019
35
Corneal and Scleral Problems Caused by Skin-Lightening Creams. 61
31219884 2019
36
Ochronotic pigmentation is caused by homogentisic acid and is the key event in alkaptonuria leading to the destructive consequences of the disease-A review. 61
31282009 2019
37
The color of skin: gray diseases of the skin, nails, and mucosa. 61
31896405 2019
38
Endogenous ochronosis: a dermoscopic view. 61
31115901 2019
39
Raman Spectroscopy identifies differences in ochronotic and non-ochronotic cartilage; a potential novel technique for monitoring ochronosis. 61
31022456 2019
40
Ochronotic arthritis and ochronotic Achilles tendon rupture in alkaptonuria: A 6 years follow-up case report in China. 61
31441856 2019
41
ARTHROPLASTY IN ALKAPTONURIC OCHRONOSIS. 61
31577082 2019
42
No ochronosis was seen at internal thoracic artery with alkaptonuria. 61
30417683 2019
43
[Surgery in the dark - a case of Cardiac Ochronosis]. 61
31734977 2019
44
Ochronosis Involvement and Extensity With 18F-FDG PET/CT. 61
30829862 2019
45
Serum Oxidative-Antioxidative Status in Patients With Alkaptonuria. 61
31019628 2019
46
Alkaptonuria-an atypical case: multi-modality imaging review. 61
30406834 2019
47
Homogentisic acid induces morphological and mechanical aberration of ochronotic cartilage in alkaptonuria. 61
30341892 2019
48
Ochronosis Presenting as Methemoglobinemia. 61
30229904 2019
49
Evaluating the Efficacy, Safety, and Tolerability of the Combination of Tazarotene, Azelaic Acid, Tacrolimus, and Zinc Oxide for the Treatment of Melasma: A Pilot Study. 61
31320976 2019
50
Exogenous ochronosis: the failure of depigmenting creams. 61
31046915 2019

Variations for Ochronosis

Expression for Ochronosis

Search GEO for disease gene expression data for Ochronosis.

Pathways for Ochronosis

Pathways related to Ochronosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.32 TYRP1 TYR MRAP MITF MC1R
2 10.87 MITF MC1R
3
Show member pathways
10.81 TYRP1 TYR HPD HGD
4 9.65 TYRP1 TYR

GO Terms for Ochronosis

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

# Name GO ID Score Top Affiliating Genes
1 melanosome membrane GO:0033162 8.62 TYRP1 TYR

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

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.67 TYRP1 TYR HPD HGD
2 melanocyte differentiation GO:0030318 9.32 TYRP1 MITF
3 L-phenylalanine catabolic process GO:0006559 9.26 HPD HGD
4 tyrosine catabolic process GO:0006572 9.16 HPD HGD
5 melanin biosynthetic process GO:0042438 9.13 TYRP1 TYR MC1R
6 pigmentation GO:0043473 8.92 TYRP1 TYR MITF MC1R

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

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.72 TYRP1 TYR MRAP HGD CRYAA
2 oxidoreductase activity GO:0016491 9.56 TYRP1 TYR HPD HGD
3 N-acetyltransferase activity GO:0008080 9.16 NAA50 NAA30
4 peptide alpha-N-acetyltransferase activity GO:0004596 8.96 NAA50 NAA30
5 monophenol monooxygenase activity GO:0004503 8.62 TYRP1 TYR

Sources for Ochronosis

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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