Aliases & Classifications for Ochronosis

MalaCards integrated aliases for Ochronosis:

Name: Ochronosis 12 77 54 56 45 15 74

Classifications:



External Ids:

Disease Ontology 12 DOID:14223
MeSH 45 D009794
NCIt 51 C84938
SNOMED-CT 69 21924005
ICD10 34 E70.29
UMLS 74 C0028817

Summaries for Ochronosis

NIH Rare Diseases : 54 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 testes, skin 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 : 77 Ochronosis is a syndrome caused by the accumulation of homogentisic acid in connective tissues. It was... more...

Related Diseases for Ochronosis

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 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 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:

42
Testes, Skin, Eye, Heart, Prostate, Bone, Spinal Cord

Publications for Ochronosis

Articles related to Ochronosis:

(show top 50) (show all 338)
# Title Authors Year
1
Exogenous ochronosis: the failure of depigmenting creams. ( 31046915 )
2019
2
Dermpath & Clinic: Exogenous ochronosis. ( 31106765 )
2019
3
Ochronosis Presenting as Methemoglobinemia. ( 30229904 )
2019
4
Ochronosis Involvement and Extensity With 18F-FDG PET/CT. ( 30829862 )
2019
5
The Dark Side of the Heart: Cardiovascular Manifestation of Ochronosis. ( 30926473 )
2019
6
Raman Spectroscopy identifies differences in ochronotic and non-ochronotic cartilage; a potential novel technique for monitoring ochronosis. ( 31022456 )
2019
7
Endogenous ochronosis: when clinical suspicion prevails over histopathology. ( 31046911 )
2019
8
Fatal methemoglobinemia complicating alkaptonuria (ochronosis): a rare presentation. ( 29572623 )
2018
9
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
10
No ochronosis was seen at internal thoracic artery with alkaptonuria. ( 30417683 )
2018
11
Dermoscopic and laser confocal features of an exogenous ochronosis case. ( 29963804 )
2018
12
A case of exogenous ochronosis associated with hydroxychloroquine. ( 30071940 )
2018
13
Woman in black: the cardiac ochronosis with severe aortic valve stenosis. ( 29092008 )
2018
14
Alkaptonuric Ochronosis and the Failure of Regional Cerebral Tissue Oxygen Saturation Monitoring by Two Different Near-infrared Spectroscopy Devices. ( 29395825 )
2018
15
Ochronosis of Mitral Valve and Coronary Arteries. ( 29501639 )
2018
16
Ocular Ochronosis. ( 29739500 )
2018
17
Ochronosis of the aortic valve. ( 29997987 )
2018
18
A rare case of ochronosis presenting with cervical compressive myelopathy. ( 30038118 )
2018
19
An Osteochondral Allograft in a Patient with Ochronosis: A Case Report. ( 30045078 )
2018
20
A case of ochronosis successfully treated with the picosecond laser. ( 30556284 )
2018
21
Exogenous Ochronosis in Facial Melasma. ( 28126186 )
2017
22
Image Gallery: Dermoscopy as an auxiliary tool in exogenous ochronosis. ( 28833025 )
2017
23
Alkaptonuric Ochronosis. ( 27816602 )
2017
24
An unusual cause of chronic low back pain: ochronosis. ( 28491212 )
2017
25
Severe Aortic Valve Stenosis Due to Alkaptonuric Ochronosis. ( 28709382 )
2017
26
Ochronosis: a close mimic of ankylosing spondylitis. ( 29088416 )
2017
27
A role for interleukins in ochronosis in a chondrocyte in vitro model of alkaptonuria. ( 26474772 )
2016
28
Tyrosinase, could it be a missing link in ochronosis in alkaptonuria? ( 27142149 )
2016
29
Orthopedic Manifestations of Ochronosis: Pathophysiology, Presentation, Diagnosis, and Management. ( 26844634 )
2016
30
The Distribution of Ochronosis in Osteoarthritic Articular Cartilage in a Knee. ( 26855632 )
2016
31
Ochronosis. ( 27197586 )
2016
32
Ochronosis of the knee with secondary osteoarthritis requiring total knee replacement in a patient with cryptogenic organising pneumonia. ( 27207988 )
2016
33
Ochronosis-like condition in a cat. ( 27225969 )
2016
34
Senile-onset ochronosis. ( 27320769 )
2016
35
Ochronosis as Etiology of Requiring Total Knee Arthroplasty-A Case Series. ( 27466876 )
2016
36
Alkaptonuric Ochronosis. ( 27734648 )
2016
37
Oxidative stress and mechanisms of ochronosis in alkaptonuria. ( 25733348 )
2015
38
Localized argyria with pseudo-ochronosis. ( 25671447 )
2015
39
Exogenous ochronosis: a comprehensive review of the diagnosis, epidemiology, causes, and treatments. ( 25837718 )
2015
40
Pigmented colloid milium associated with exogenous ochronosis in a farmer with long-term exposure to fertilizers. ( 26236412 )
2015
41
Exogenous Ochronosis. ( 26677264 )
2015
42
Erbium-doped yttrium aluminium garnet ablative laser treatment for endogenous ochronosis. ( 25302636 )
2015
43
Black joint and synovia: Histopathological evaluation of degenerative joint disease due to Ochronosis. ( 25869213 )
2015
44
Coexistence of alkaptonuric ochronosis and renal cell carcinoma: an unusual association and report of a case. ( 25885152 )
2015
45
Ochronosis and Osteoporosis: A Case Report. ( 25908477 )
2015
46
Nitisinone Arrests but Does Not Reverse Ochronosis in Alkaptonuric Mice. ( 25940034 )
2015
47
A 61-year-old man with hyperpigmentation. Ochronosis. ( 26269283 )
2015
48
Ochronosis with subtle histological findings. ( 26515848 )
2015
49
In Vivo Confocal Microscopy and Anterior Segment Optic Coherence Tomography Findings in Ocular Ochronosis. ( 26788390 )
2015
50
Alkaptonuric ochronosis. ( 26929770 )
2015

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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