Aliases & Classifications for Ochronosis

MalaCards integrated aliases for Ochronosis:

Name: Ochronosis 12 75 53 55 44 15 72

Classifications:



External Ids:

Disease Ontology 12 DOID:14223
MeSH 44 D009794
NCIt 50 C84938
SNOMED-CT 68 21924005
ICD10 33 E70.29
UMLS 72 C0028817

Summaries for Ochronosis

NIH Rare Diseases : 53 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 exogenous ochronosis, 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 is Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism. The drugs Nitisinone and Tyrosine have been mentioned in the context of this disorder. Affiliated tissues include skin, testes and eye.

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 : 75 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 86)
# Related Disease Score Top Affiliating Genes
1 alkaptonuria 33.5 HPD HGD
2 exogenous ochronosis 12.7
3 arthropathy 10.8
4 dowling-degos disease 1 10.6
5 autosomal recessive disease 10.5
6 osteoarthritis 10.5
7 back pain 10.4
8 disorder of tyrosine metabolism 10.4
9 spondyloarthropathy 1 10.4
10 inflammatory spondylopathy 10.4
11 spondylitis 10.4
12 aortic valve disease 2 10.4
13 spondylosis 10.3
14 arthritis 10.3
15 abdominal obesity-metabolic syndrome 1 10.2
16 chondrocalcinosis 10.2
17 gout 10.2
18 heart valve disease 10.2
19 inherited metabolic disorder 10.2
20 prostate calculus 10.2 HPD HGD
21 rheumatoid arthritis 10.2
22 enthesopathy 10.2
23 ankylosis 10.2
24 argyria 10.2
25 nephrolithiasis, calcium oxalate 10.1
26 sarcoidosis 1 10.1
27 astigmatism 10.1
28 intraocular pressure quantitative trait locus 10.1
29 methemoglobinemia 10.1
30 spondyloarthropathy 10.1
31 rheumatic disease 10.1
32 spondylarthropathy 10.1
33 lower urinary tract calculus 10.0 HPD HGD
34 aortitis 10.0 NT5C1B MRAP
35 neurofibromatosis, type ii 9.9
36 renal cell carcinoma, nonpapillary 9.9
37 osteoporosis 9.9
38 parkinson disease, late-onset 9.9
39 hemochromatosis, type 1 9.9
40 mycosis fungoides 9.9
41 osteogenic sarcoma 9.9
42 sea-blue histiocyte disease 9.9
43 intervertebral disc disease 9.9
44 langerhans cell histiocytosis 9.9
45 bone mineral density quantitative trait locus 8 9.9
46 bone mineral density quantitative trait locus 15 9.9
47 retinal dystrophy, iris coloboma, and comedogenic acne syndrome 9.9
48 hyperlipoproteinemia, type iii 9.9
49 peripheral vascular disease 9.9
50 atrioventricular block 9.9

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

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 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 Nitisinone (NTBC) In Different Age Groups Of Patients With Alkaptonuria Unknown status NCT01390077 Phase 2, Phase 3 Nitisinone
2 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. Active, not recruiting NCT01916382 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

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:

41
Skin, Testes, Eye, Bone, Heart, Prostate, Kidney

Publications for Ochronosis

Articles related to Ochronosis:

(show top 50) (show all 696)
# Title Authors PMID Year
1
Exogenous Ochronosis. 38 6
26677264 2015
2
Aortic stenosis in cardiovascular ochronosis. 9 38
17213354 2007
3
Ochronotic arthropathy: disappearance of alkaptonuria after liver transplantation for hepatitis B-related cirrhosis. 9 38
16371803 2005
4
Use of nitisinone in patients with alkaptonuria. 9 38
15931605 2005
5
Alkaptonuric ochronosis: a case report. 9 38
15727283 2005
6
Minocycline-induced hyperpigmentation masquerading as alkaptonuria in individuals with joint pain. 9 38
15529343 2004
7
Alkaptonuria and lumbar disc herniation. Report of three cases. 9 38
12546396 2003
8
Natural history of alkaptonuria. 9 38
12501223 2002
9
Aortic stenosis in endogenous ochronosis. 9 38
10461246 1999
10
Hereditary ochronosis: hyperpigmented skin overlying cartilaginous structures. 9 38
10388955 1999
11
Ocular ochronosis in alkaptonuria patients carrying mutations in the homogentisate 1,2-dioxygenase gene. 9 38
10340975 1999
12
[Alkaptonuria, prostatic calculi, and ectopic ureter]. 9 38
9214216 1997
13
The clinical manifestations of ochronosis: a review. 9 38
8571731 1995
14
Alkaptonuria and renal failure: a case report and review of the literature. 9 38
1495952 1992
15
Endogenous ochronosis: a dermoscopic view. 38
31115901 2019
16
Raman Spectroscopy identifies differences in ochronotic and non-ochronotic cartilage; a potential novel technique for monitoring ochronosis. 38
31022456 2019
17
Ochronotic pigmentation is caused by homogentisic acid and is the key event in alkaptonuria leading to the destructive consequences of the disease-A review. 38
31282009 2019
18
No ochronosis was seen at internal thoracic artery with alkaptonuria. 38
30417683 2019
19
[Black knee-ochronotic alterations in alkaptonuria]. 38
31332451 2019
20
Management of a pseudarthrosis with sagittal malalignment in a patient with ochronotic spondyloarthropathy. 38
31175484 2019
21
Corneal and Scleral Problems Caused by Skin-Lightening Creams. 38
31219884 2019
22
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. 38
31320976 2019
23
Alkaptonuria-an atypical case: multi-modality imaging review. 38
30406834 2019
24
Serum Oxidative-Antioxidative Status in Patients With Alkaptonuria. 38
31019628 2019
25
Homogentisic acid induces morphological and mechanical aberration of ochronotic cartilage in alkaptonuria. 38
30341892 2019
26
Ochronosis Presenting as Methemoglobinemia. 38
30229904 2019
27
Ochronosis Involvement and Extensity With 18F-FDG PET/CT. 38
30829862 2019
28
Endogenous ochronosis: when clinical suspicion prevails over histopathology. 38
31046911 2019
29
Exogenous ochronosis: the failure of depigmenting creams. 38
31046915 2019
30
Dermpath & Clinic: Exogenous ochronosis. 38
31106765 2019
31
Black-Colored Ligamentum Flavum Due to Alkaptonuria. 38
30477028 2019
32
The Dark Side of the Heart: Cardiovascular Manifestation of Ochronosis. 38
30926473 2019
33
A case of ochronosis successfully treated with the picosecond laser. 38
30556284 2018
34
Knee and Hip Joint Replacement Surgery in a Patient with Ochronotic Arthropathy: Surgical Tips. 38
30637315 2018
35
Knee Arthroscopy: A Diagnostic and Therapeutic Tool for Management of Ochronotic Arthropathy. 38
30533354 2018
36
Alkaptonuric Ochronosis and the Failure of Regional Cerebral Tissue Oxygen Saturation Monitoring by Two Different Near-infrared Spectroscopy Devices. 38
29395825 2018
37
Data on items of AKUSSI in Alkaptonuria collected over three years from the United Kingdom National Alkaptonuria Centre and the impact of nitisinone. 38
30263914 2018
38
Nitisinone arrests ochronosis and decreases rate of progression of Alkaptonuria: Evaluation of the effect of nitisinone in the United Kingdom National Alkaptonuria Centre. 38
30055994 2018
39
A case of exogenous ochronosis associated with hydroxychloroquine. 38
30071940 2018
40
An Osteochondral Allograft in a Patient with Ochronosis: A Case Report. 38
30045078 2018
41
Ochronosis of Mitral Valve and Coronary Arteries. 38
29501639 2018
42
A rare case of ochronosis presenting with cervical compressive myelopathy. 38
30038118 2018
43
An Unusual Case of Bilateral Ochronotic Arthropathy of the Hip Successfully Managed by a Staged Bilateral Total Hip Replacement- An Insight with a Surgical Note. 38
30687653 2018
44
Dermoscopic and laser confocal features of an exogenous ochronosis case. 38
29963804 2018
45
Fatal methemoglobinemia complicating alkaptonuria (ochronosis): a rare presentation. 38
29572623 2018
46
Ochronosis of the aortic valve. 38
29997987 2018
47
[Anesthetic management of two patients with alkaptonuric ochronosis for total knee arthroplasty]. 38
28535941 2018
48
Woman in black: the cardiac ochronosis with severe aortic valve stenosis. 38
29092008 2018
49
Ocular Ochronosis. 38
29739500 2018
50
Calcaneal Avulsion of an Ochronotic Achilles Tendon: A Case Report. 38
29113706 2018

Variations for Ochronosis

Expression for Ochronosis

Search GEO for disease gene expression data for Ochronosis.

Pathways for Ochronosis

GO Terms for Ochronosis

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

# Name GO ID Score Top Affiliating Genes
1 L-phenylalanine catabolic process GO:0006559 8.96 HPD HGD
2 tyrosine catabolic process GO:0006572 8.62 HPD HGD

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

# Name GO ID Score Top Affiliating Genes
1 dioxygenase activity GO:0051213 8.62 HPD HGD

Sources for Ochronosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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