Aliases & Classifications for Ochronosis

MalaCards integrated aliases for Ochronosis:

Name: Ochronosis 12 76 53 55 44 15 73

Classifications:



External Ids:

Disease Ontology 12 DOID:14223
ICD10 33 E70.29
MeSH 44 D009794
NCIt 50 C84938
SNOMED-CT 68 21924005
UMLS 73 C0028817

Summaries for Ochronosis

NIH Rare Diseases : 53 Ochronosis is the bluish-black discoloration of certain tissues, such as the ear cartilage, the ocular (eye) tissue, and other body locations. It often occurs in individuals with alkaptonuria, a metabolic disorder; it can also occasionally occur from exposure to various substances. Alkaptonuria is caused by a mutation in the HGD gene, which results in the accumulation and deposition of homogentisic acid (HGA) in cartilage, causing the characteristic coloring of ochronosis. The affected tissue becomes weak and brittle with time, leading to chronic inflammation, degeneration, and osteoarthritis. Alkaptonuria is inherited in an autosomal recessive manner. When ochronosis is due to exposure to substances (called exogenous ochronosis), the condition is not inherited.

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 are Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism and Phenylalanine metabolism. The drugs Nitisinone and tyrosine have been mentioned in the context of this disorder. Affiliated tissues include eye, skin and bone.

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 : 76 Ochronosis is a syndrome caused by the accumulation of homogentisic acid in connective tissues. It was... more...

Related Diseases for Ochronosis

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

(show all 33)
# Related Disease Score Top Affiliating Genes
1 alkaptonuria 33.5 HGD HPD
2 exogenous ochronosis 12.6
3 arthropathy 10.4
4 spondyloarthropathy 1 10.3
5 arthritis 10.3
6 spondylitis 10.3
7 aortic valve disease 2 10.2
8 rheumatoid arthritis 10.1
9 prostate calculus 10.1 HGD HPD
10 aortitis 10.1 MRAP NT5C1B
11 osteoarthritis 10.0
12 methemoglobinemia 10.0
13 argyria 10.0
14 infectious anterior uveitis 10.0 MRAP SAA1
15 lower urinary tract calculus 10.0 HGD HPD
16 specific bursitis often of occupational origin 10.0 CD2 MRAP
17 olecranon bursitis 9.9 CD2 MRAP
18 urethral syndrome 9.9 HPD MRAP
19 renal cell carcinoma, nonpapillary 9.9
20 osteoporosis 9.9
21 mycosis fungoides 9.9
22 diabetes mellitus 9.9
23 scoliosis 9.9
24 open-angle glaucoma 9.9
25 heart disease 9.9
26 gout 9.9
27 enthesopathy 9.9
28 dermatitis 9.9
29 contact dermatitis 9.9
30 allergic contact dermatitis 9.9
31 pneumonia 9.9
32 depression 9.9
33 pain - chronic 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 2, Phase 3,Phase 3 104206-65-7 115355
2 tyrosine Phase 2

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 Suitability of Nitisinone in Alkaptonuria 2 Active, not recruiting NCT01916382 Phase 3 Nitisinone
3 Long-Term Study of Nitisinone to Treat Alkaptonuria Completed NCT00107783 Phase 2 Nitisinone (NTBC)
4 Dose Response Study of Nitisinone in Alkaptonuria Completed NCT01828463 Phase 2 Nitisinone
5 Study of 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
Eye, Skin, Bone, Prostate, Heart, Spinal Cord, Breast

Publications for Ochronosis

Articles related to Ochronosis:

(show top 50) (show all 332)
# Title Authors Year
1
Fatal methemoglobinemia complicating alkaptonuria (ochronosis): a rare presentation. ( 29572623 )
2018
2
Ochronosis of Mitral Valve and Coronary Arteries. ( 29501639 )
2018
3
Ocular Ochronosis. ( 29739500 )
2018
4
Dermoscopic and laser confocal features of an exogenous ochronosis case. ( 29963804 )
2018
5
Nitisinone arrests ochronosis and decreases rate of progression of Alkaptonuria: Evaluation of the effect of nitisinone in the United Kingdom National Alkaptonuria Centre. ( 30055994 )
2018
6
No ochronosis was seen at internal thoracic artery with alkaptonuria. ( 30417683 )
2018
7
A case of exogenous ochronosis associated with hydroxychloroquine. ( 30071940 )
2018
8
Ochronosis Presenting as Methemoglobinemia. ( 30229904 )
2018
9
Ochronosis of the aortic valve. ( 29997987 )
2018
10
A rare case of ochronosis presenting with cervical compressive myelopathy. ( 30038118 )
2018
11
An Osteochondral Allograft in a Patient with Ochronosis: A Case Report. ( 30045078 )
2018
12
A case of ochronosis successfully treated with the picosecond laser. ( 30556284 )
2018
13
Woman in black: the cardiac ochronosis with severe aortic valve stenosis. ( 29092008 )
2017
14
Alkaptonuric Ochronosis and the Failure of Regional Cerebral Tissue Oxygen Saturation Monitoring by Two Different Near-infrared Spectroscopy Devices. ( 29395825 )
2017
15
Severe Aortic Valve Stenosis Due to Alkaptonuric Ochronosis. ( 28709382 )
2017
16
Image Gallery: Dermoscopy as an auxiliary tool in exogenous ochronosis. ( 28833025 )
2017
17
An unusual cause of chronic low back pain: ochronosis. ( 28491212 )
2017
18
Exogenous Ochronosis in Facial Melasma. ( 28126186 )
2017
19
Ochronosis: a close mimic of ankylosing spondylitis. ( 29088416 )
2017
20
Alkaptonuric Ochronosis. ( 27734648 )
2016
21
Ochronosis-like condition in a cat. ( 27225969 )
2016
22
Tyrosinase, could it be a missing link in ochronosis in alkaptonuria? ( 27142149 )
2016
23
Alkaptonuric Ochronosis. ( 27816602 )
2016
24
Orthopedic Manifestations of Ochronosis: Pathophysiology, Presentation, Diagnosis, and Management. ( 26844634 )
2016
25
Ochronosis as Etiology of Requiring Total Knee Arthroplasty-A Case Series. ( 27466876 )
2016
26
Ochronosis of the knee with secondary osteoarthritis requiring total knee replacement in a patient with cryptogenic organising pneumonia. ( 27207988 )
2016
27
Senile-onset ochronosis. ( 27320769 )
2016
28
Ochronosis. ( 27197586 )
2016
29
The Distribution of Ochronosis in Osteoarthritic Articular Cartilage in a Knee. ( 26855632 )
2016
30
Oxidative stress and mechanisms of ochronosis in alkaptonuria. ( 25733348 )
2015
31
Coexistence of Alkaptonuric Ochronosis and renal cell carcinoma: An unusual association and report of a case. ( 25885152 )
2015
32
Alkaptonuric ochronosis. ( 26929770 )
2015
33
Ochronosis and Osteoporosis: A Case Report. ( 25908477 )
2015
34
Ochronosis with subtle histological findings. ( 26515848 )
2015
35
In Vivo Confocal Microscopy and Anterior Segment Optic Coherence Tomography Findings in Ocular Ochronosis. ( 26788390 )
2015
36
Black joint and synovia: Histopathological evaluation of degenerative joint disease due to Ochronosis. ( 25869213 )
2015
37
Pigmented colloid milium associated with exogenous ochronosis in a farmer with long-term exposure to fertilizers. ( 26236412 )
2015
38
Nitisinone Arrests but Does Not Reverse Ochronosis in Alkaptonuric Mice. ( 25940034 )
2015
39
Localized argyria with pseudo-ochronosis. ( 25671447 )
2015
40
A role for interleukins in ochronosis in a chondrocyte in vitro model of alkaptonuria. ( 26474772 )
2015
41
A 61-year-old man with hyperpigmentation. Ochronosis. ( 26269283 )
2015
42
Exogenous Ochronosis: A Comprehensive Review of the Diagnosis, Epidemiology, Causes, and Treatments. ( 25837718 )
2015
43
Exogenous Ochronosis. ( 26677264 )
2015
44
Total knee arthroplasty in ochronosis. ( 28326376 )
2015
45
Erbium-doped yttrium aluminium garnet ablative laser treatment for endogenous ochronosis. ( 25302636 )
2014
46
On the ocular findings in ochronosis: a systematic review of literature. ( 24479547 )
2014
47
Alkaptonuric ochronosis. ( 25437092 )
2014
48
Aortic valve replacement surgery reveals previously undiagnosed alkaptonuric ochronosis. ( 24648430 )
2014
49
Knee osteoarthrosis secondary to ochronosis - clinical case. ( 26229881 )
2014
50
Clinical and in vivo confocal microscopic findings of a patient with ocular ochronosis. ( 24767236 )
2014

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 HGD HPD
2 tyrosine catabolic process GO:0006572 8.62 HGD HPD

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 HGD HPD

Sources for Ochronosis

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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