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 410042009
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 polydipsia, muscle weakness 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 Tyrosine metabolism. The drugs Nitisinone and tyrosine have been mentioned in the context of this disorder. Affiliated tissues include eye, skin and prostate.

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 41)
# Related Disease Score Top Affiliating Genes
1 alkaptonuria 33.1 HGD HPD
2 exogenous ochronosis 12.4
3 prostate calculus 10.3 HGD HPD
4 arthropathy 10.2
5 spondyloarthropathy 1 10.1
6 arthritis 10.1
7 spondylitis 10.1
8 aortitis 10.1 MRAP NT5C1B
9 lower urinary tract calculus 10.1 HGD HPD
10 aortic valve disease 2 10.1
11 back pain 10.0
12 rheumatoid arthritis 9.9
13 prostatitis 9.9
14 osteoarthritis 9.9
15 argyria 9.9
16 renal cell carcinoma, nonpapillary 9.7
17 osteoporosis 9.7
18 mycosis fungoides 9.7
19 tendinitis 9.7
20 diabetes mellitus 9.7
21 scoliosis 9.7
22 open-angle glaucoma 9.7
23 methemoglobinemia 9.7
24 intracranial aneurysm 9.7
25 heart disease 9.7
26 choroiditis 9.7
27 gout 9.7
28 enthesopathy 9.7
29 vaginitis 9.7
30 dermatitis 9.7
31 contact dermatitis 9.7
32 allergic contact dermatitis 9.7
33 cerebritis 9.7
34 pneumonia 9.7
35 mediastinitis 9.7
36 depression 9.7
37 aneurysm 9.7
38 chronic pain 9.7
39 urethral syndrome 9.7 HPD MRAP
40 specific bursitis often of occupational origin 9.6 CD2 MRAP
41 olecranon bursitis 9.6 CD2 MRAP

Graphical network of the top 20 diseases related to Ochronosis:



Diseases related to Ochronosis

Symptoms & Phenotypes for Ochronosis

UMLS symptoms related to Ochronosis:


polydipsia, muscle weakness, 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 Nutraceutical 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, Prostate, Spinal Cord, Bone, Heart

Publications for Ochronosis

Articles related to Ochronosis:

(show top 50) (show all 317)
# 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
Woman in black: the cardiac ochronosis with severe aortic valve stenosis. ( 29092008 )
2017
6
Alkaptonuric Ochronosis and the Failure of Regional Cerebral Tissue Oxygen Saturation Monitoring by Two Different Near-infrared Spectroscopy Devices. ( 29395825 )
2017
7
Severe Aortic Valve Stenosis Due to Alkaptonuric Ochronosis. ( 28709382 )
2017
8
Image Gallery: Dermoscopy as an auxiliary tool in exogenous ochronosis. ( 28833025 )
2017
9
An unusual cause of chronic low back pain: ochronosis. ( 28491212 )
2017
10
Exogenous Ochronosis in Facial Melasma. ( 28126186 )
2017
11
Ochronosis: a close mimic of ankylosing spondylitis. ( 29088416 )
2017
12
Alkaptonuric Ochronosis. ( 27734648 )
2016
13
Ochronosis-like condition in a cat. ( 27225969 )
2016
14
Tyrosinase, could it be a missing link in ochronosis in alkaptonuria? ( 27142149 )
2016
15
Alkaptonuric Ochronosis. ( 27816602 )
2016
16
Orthopedic Manifestations of Ochronosis: Pathophysiology, Presentation, Diagnosis, and Management. ( 26844634 )
2016
17
Ochronosis as Etiology of Requiring Total Knee Arthroplasty-A Case Series. ( 27466876 )
2016
18
Ochronosis of the knee with secondary osteoarthritis requiring total knee replacement in a patient with cryptogenic organising pneumonia. ( 27207988 )
2016
19
Senile-onset ochronosis. ( 27320769 )
2016
20
Ochronosis. ( 27197586 )
2016
21
The Distribution of Ochronosis in Osteoarthritic Articular Cartilage in a Knee. ( 26855632 )
2016
22
Oxidative stress and mechanisms of ochronosis in alkaptonuria. ( 25733348 )
2015
23
Coexistence of Alkaptonuric Ochronosis and renal cell carcinoma: An unusual association and report of a case. ( 25885152 )
2015
24
Alkaptonuric ochronosis. ( 26929770 )
2015
25
Ochronosis and Osteoporosis: A Case Report. ( 25908477 )
2015
26
Ochronosis with subtle histological findings. ( 26515848 )
2015
27
In Vivo Confocal Microscopy and Anterior Segment Optic Coherence Tomography Findings in Ocular Ochronosis. ( 26788390 )
2015
28
Black joint and synovia: Histopathological evaluation of degenerative joint disease due to Ochronosis. ( 25869213 )
2015
29
Pigmented colloid milium associated with exogenous ochronosis in a farmer with long-term exposure to fertilizers. ( 26236412 )
2015
30
Nitisinone Arrests but Does Not Reverse Ochronosis in Alkaptonuric Mice. ( 25940034 )
2015
31
Localized argyria with pseudo-ochronosis. ( 25671447 )
2015
32
A role for interleukins in ochronosis in a chondrocyte in vitro model of alkaptonuria. ( 26474772 )
2015
33
A 61-year-old man with hyperpigmentation. Ochronosis. ( 26269283 )
2015
34
Exogenous Ochronosis: A Comprehensive Review of the Diagnosis, Epidemiology, Causes, and Treatments. ( 25837718 )
2015
35
Exogenous Ochronosis. ( 26677264 )
2015
36
Erbium-doped yttrium aluminium garnet ablative laser treatment for endogenous ochronosis. ( 25302636 )
2014
37
On the ocular findings in ochronosis: a systematic review of literature. ( 24479547 )
2014
38
Alkaptonuric ochronosis. ( 25437092 )
2014
39
Aortic valve replacement surgery reveals previously undiagnosed alkaptonuric ochronosis. ( 24648430 )
2014
40
Knee osteoarthrosis secondary to ochronosis - clinical case. ( 26229881 )
2014
41
Clinical and in vivo confocal microscopic findings of a patient with ocular ochronosis. ( 24767236 )
2014
42
Exogenous ochronosis. ( 25526333 )
2014
43
Ochronosis of the hip joint: differential diagnosis of inflammatory arthropathy with lytic lesion. ( 24478561 )
2014
44
Alkaptonuric ochronosis: a clinical study from Ardabil, Iran. ( 24447956 )
2014
45
Exogenous ochronosis in a Chinese patient: use of dermoscopy aids early diagnosis and selection of biopsy site. ( 24452981 )
2014
46
Alkaptonuric ochronosis of the aorta. ( 24599900 )
2014
47
Treatment of exogenous ochronosis with advanced fluorescence technology. ( 25099291 )
2014
48
Exogenous ochronosis. ( 24718413 )
2014
49
Reading between the layers: early histopathological findings in exogenous ochronosis. ( 25415140 )
2014
50
Ochronosis diagnosed after knee arthroscopy. ( 24993694 )
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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