Ochronosis disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: OCH001 MIFTS: 38	Ochronosis Categories: Bone diseases, Rare diseases
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Aliases & Classifications for Ochronosis

MalaCards integrated aliases for Ochronosis:

Name: Ochronosis ¹² ⁷⁴ ⁵² ⁵⁴ ⁴³ ¹⁵ ⁷¹

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Bone diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:14223

MeSH ⁴³ D009794

NCIt ⁴⁹ C84938

ICD10 ³² E70.29

UMLS ⁷¹ C0028817

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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...

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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:

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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

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Drugs & Therapeutics for Ochronosis

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

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Nitisinone

Approved, Investigational

Phase 2, Phase 3

104206-65-7

115355

Synonyms:

104206-65-7

2-(2-nitro-4-(Trifluoromethyl)benzoyl)cyclohexane-1,3-dione

2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione

2-(2-nitro-4-Trifluoromethylbenzoyl)-1,3-cyclohexanedione

2-(2-Nitro-4-trifluoromethylbenzoyl)cyclohexane-1,3-dione

2-(a,a,a-trifluoro-2-nitro-P-Tuluoyl)-1,3-cyclohexanedione

2-(alpha,alpha,alpha-trifluoro-2-nitro-P-Tuluoyl)-1,3-cyclohexanedione

2-(alpha,alpha,alpha-Trifluoro-2-nitro-p-tuluoyl)-1,3-cyclohexanedione

2-(Alpha,alpha,alpha-trifluoro-2-nitro-p-tuluoyl)-1,3-cyclohexanedione

2-(α,α,α-trifluoro-2-nitro-P-tuluoyl)-1,3-cyclohexanedione

2-[2-nitro-4-(trifluoromethyl)benzoyl]cyclohexane-1,3-dione

2-{[2-nitro-4-(trifluoromethyl)phenyl]carbonyl}cyclohexane-1,3-dione

AC1L3GZK

BIDD:PXR0129

C14H10F3NO5

CHEBI:50378

CHEMBL1337

CID115355

D05177

DB00348

FE-0200

LS-56815

nitisinona

Nitisinona

Nitisinone

Nitisinone (JAN/USAN/INN)

Nitisinone (NTBC)

Nitisinone [INN]

Nitisinone [USAN:INN]

nitisinonum

Nitisinonum

Nitisone

NTBC CPD

Orfadin

Orfadin (TN)

SC 0735

UNII-K5BN214699

Tyrosine

Approved, Investigational, Nutraceutical

Phase 2

60-18-4

6057

Synonyms:

(-)-a-amino-P-Hydroxyhydrocinnamate

(-)-a-amino-P-Hydroxyhydrocinnamic acid

(-)-alpha-amino-P-Hydroxyhydrocinnamate

(-)-alpha-amino-P-Hydroxyhydrocinnamic acid

(-)-alpha-Amino-p-hydroxyhydrocinnamic acid

(-)-α-amino-P-hydroxyhydrocinnamate

(−)-α-amino-p-hydroxyhydrocinnamic acid

(-)-α-amino-P-hydroxyhydrocinnamic acid

(2S)-2-amino-3-(4-Hydroxyphenyl)propanoate

(2S)-2-amino-3-(4-hydroxyphenyl)propanoic acid

(2S)-2-amino-3-(4-Hydroxyphenyl)propanoic acid

(S)-(-)-Tyrosine

(S)-2-Amino-3-(4-hydroxyphenyl)propionic acid

(S)-2-amino-3-(P-Hydroxyphenyl)propionate

(S)-2-amino-3-(P-Hydroxyphenyl)propionic acid

(S)-2-Amino-3-(p-hydroxyphenyl)propionic acid

(S)-3-(p-Hydroxyphenyl)alanine

(S)-3-(P-Hydroxyphenyl)alanine

(S)-a-amino-4-Hydroxybenzenepropanoate

(S)-a-amino-4-Hydroxy-benzenepropanoate

(S)-a-amino-4-Hydroxybenzenepropanoic acid

(S)-a-amino-4-Hydroxy-benzenepropanoic acid

(S)-alpha-amino-4-Hydroxybenzenepropanoate

(S)-alpha-amino-4-Hydroxy-benzenepropanoate

(S)-alpha-amino-4-Hydroxybenzenepropanoic acid

(S)-alpha-amino-4-Hydroxy-benzenepropanoic acid

(S)-alpha-Amino-4-hydroxybenzenepropanoic acid

(S)-Tyrosine

(S)-α-amino-4-hydroxybenzenepropanoate

(S)-α-amino-4-hydroxybenzenepropanoic acid

140-43-2

1991-85-1

25619-78-7

2-amino-3-(4-Hydroxyphen yl)-2-amino-3-(4-hydroxyphenyl)-propanoate

2-amino-3-(4-Hydroxyphen yl)-2-amino-3-(4-hydroxyphenyl)-propanoic acid

2-Amino-3-(p-hydroxyphenyl)propionic acid

2csm

3-(4-Hydroxyphenyl)-L-alanine

3-(p-Hydroxyphenyl)alanine

46209-14-7

4-hydroxy-L-phenylalanine

4-Hydroxy-L-phenylalanine

4ts1

55520-40-6

60-18-4

93829_FLUKA

93829_SIGMA

AB1002647

AC-11295

AC1L1LPI

AC1Q4U7L

AC1Q4U7M

AI3-09055

alpha-Amino-beta-(4-hydroxyphenyl)propionic acid

AR-1J3457

BB_NC-1194

Benzenepropanoate

Benzenepropanoic acid

beta-(p-Hydroxyphenyl)alanine

bmse000051

C00082

CHEBI:17895

CHEMBL925

CID6057

D00022

DB00135

DB03839

DD69927C-C6A8-4BC6-8E9A-0AB423B176E7

DTY

EINECS 200-460-4

FEMA No. 3736

Free-Form L-Tyrosine

HSDB 2003

H-Tyr-OH

L Tyrosine

L-(-)-Tyrosine

L-2-Amino-3-p-hydroxyphenylpropanoic acid

L-p-Tyrosine

L-P-Tyrosine

LS-2336

L-Tyrosin

L-tyrosine

L-Tyrosine (9CI)

L-Tyrosine (JAN)

L-Tyrosine hydrochloride

L-Tyrosine, homopolymer

L-Tyrosine, monomer

Melanin synthesized from Tyr substrate catalyzed by tyrosinase for 6 hrs

Melanin synthesized from Tyr substrate catalyzed by tyrosinase for 6 hrs, oxidized with hydrogen peroxide

Melanin synthesized from Tyr substrate catalyzed by tyrosinase for 6 hrs, oxidized with hydrogen peroxide, <3 kd fraction

Melanin synthesized from Tyr substrate catalyzed by tyrosinase, brominated with N-bromosuccinimide

Melanin synthesized from Tyr substrate catalyzed by tyrosinase, sulfonated using sulfur trioxide/DMF complex for 1.5-7 hours

MolPort-001-792-016

NCGC00159350-02

NCGC00159350-03

nchembio.105-comp1

nchembio.121-comp7

nchembio.186-comp84

nchembio.284-comp7

nchembio816-comp11

NSC 82624

Para tyrosine

Para-tyrosine

p-Tyrosine

P-Tyrosine

Rxosine

T0550

T3754_SIAL

T4321_SIAL

T4321_SIGMA

T8566_SIGMA

tirosina

Tirosina

Tirosina [Spanish]

tyr

Tyr

TYR NH3+ COOH

tyrosine

Tyrosine

TYROSINE

Tyrosine (USP/INN)

Tyrosine (VAN)

Tyrosine [USAN:INN]

Tyrosine Power

Tyrosine, L- (8CI)

Tyrosine, L isomer

Tyrosine, L-isomer

Tyrosinum

Tyrosinum [Latin]

UNII-42HK56048U

W373605_ALDRICH

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

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Genetic Tests for Ochronosis

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Anatomical Context for Ochronosis

MalaCards organs/tissues related to Ochronosis:

⁴⁰

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

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Publications for Ochronosis

Articles related to Ochronosis:

(show top 50) (show all 720)

#	Title	Authors	PMID	Year
1	Exogenous Ochronosis. ⁵² ⁶¹	Bhattar PA...Gautam MM	26677264	2015
2	Aortic stenosis in cardiovascular ochronosis. ⁵⁴ ⁶¹	Ffolkes LV...Hughes SE	17213354	2007
3	Ochronotic arthropathy: disappearance of alkaptonuria after liver transplantation for hepatitis B-related cirrhosis. ⁵⁴ ⁶¹	Kobak AC...Inal V	16371803	2005
4	Use of nitisinone in patients with alkaptonuria. ⁵⁴ ⁶¹	Suwannarat P...Gahl WA	15931605	2005
5	Alkaptonuric ochronosis: a case report. ⁶¹ ⁵⁴	Collins E...Hand R	15727283	2005
6	Minocycline-induced hyperpigmentation masquerading as alkaptonuria in individuals with joint pain. ⁶¹ ⁵⁴	Suwannarat P...Gahl WA	15529343	2004
7	Alkaptonuria and lumbar disc herniation. Report of three cases. ⁶¹ ⁵⁴	Farzannia A...Hadidchi S	12546396	2003
8	Natural history of alkaptonuria. ⁵⁴ ⁶¹	Phornphutkul C...Gahl WA	12501223	2002
9	Aortic stenosis in endogenous ochronosis. ⁵⁴ ⁶¹	Casselman F...Daenen W	10461246	1999
10	Hereditary ochronosis: hyperpigmented skin overlying cartilaginous structures. ⁵⁴ ⁶¹	Garcia SF...Swetter SM	10388955	1999
11	Ocular ochronosis in alkaptonuria patients carrying mutations in the homogentisate 1,2-dioxygenase gene. ⁵⁴ ⁶¹	Felbor U...Kress W	10340975	1999
12	[Alkaptonuria, prostatic calculi, and ectopic ureter]. ⁵⁴ ⁶¹	Concepcion Masip T...Rodriguez de Minon Cifuentes JL	9214216	1997
13	The clinical manifestations of ochronosis: a review. ⁶¹ ⁵⁴	Van Offel JF...Stevens WJ	8571731	1995
14	Alkaptonuria and renal failure: a case report and review of the literature. ⁵⁴ ⁶¹	Venkataseshan VS...Needle MA	1495952	1992
15	Ochronosis of the spine mimicking ankylosing spondylitis successfully treated with anakinra. ⁶¹	Boleto G...Wipff J	32147566	2020
16	Long-term follow-up of bilateral hip and knee arthroplasty secondary to ochronotic arthropathy. ⁶¹	Ilyas I...Al-Mohrej OA	32577465	2020
17	Total knee arthroplasty for Ochronosis induced knee arthropathy. Case report. ⁶¹	Al Dosari MAA...Hameed SA	32554281	2020
18	Rare Hyperpigmentation of the Conjunctiva and Sclera: Ochronosis. ⁶¹	Lamprakis I...Schlote T	32330984	2020
19	Dietary restriction of tyrosine and phenylalanine lowers tyrosinemia associated with nitisinone therapy of alkaptonuria. ⁶¹	Hughes JH...Gallagher JA	31503358	2020
20	Pigmentation Chemistry and Radical-Based Collagen Degradation in Alkaptonuria and Osteoarthritic Cartilage. ⁶¹	Chow WY...Oschkinat H	32219972	2020
21	Cardiovascular ochronosis. ⁶¹	Ather N...Roberts WC	32473412	2020
22	Total knee prosthesis in a patient diagnosed with ochronotic arthropathy. ⁶¹	Sabater M...Segur JM	32192929	2020
23	Presentation of 14 alkaptonuria patients from Turkey. ⁶¹	Akbaba AI...Dursun A	31927521	2020
24	Alkaptonuria: Current Perspectives. ⁶¹	Zatkova A...Kadasi L	32158253	2020
25	Incidentally Discovered Ochronosis Explaining Decades of Chronic Pain. ⁶¹	Reyes A...Hashemi L	32047356	2020
26	Alkaptonuric ochronosis of the carotid artery. ⁶¹	Shah A...Salehi P	32284865	2020
27	Homogentisic acid affects human osteoblastic functionality by oxidative stress and alteration of the Wnt/β-catenin signaling pathway. ⁶¹	Schiavone ML...Santucci A	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	Hughes JH...Bou-Gharios G	31600782	2019
29	Topical Treatments for Melasma: A Systematic Review of Randomized Controlled Trials ⁶¹	Austin E...Jagdeo J	31741361	2019
30	[Black knee-ochronotic alterations in alkaptonuria]. ⁶¹	Maurer E...Kraus TM	31332451	2019
31	Exogenous Ochronosis as an Elastotic Disease: A Light-Microscopic Approach. ⁶¹	Ho JD...Goldberg LJ	31725487	2019
32	Management of a pseudarthrosis with sagittal malalignment in a patient with ochronotic spondyloarthropathy. ⁶¹	Alkasem W...Bourghli A	31175484	2019
33	The Dark Side of the Heart: Cardiovascular Manifestation of Ochronosis. ⁶¹	Planinc M...Rudez I	30926473	2019
34	Homogentisic acid is not only eliminated by glomerular filtration and tubular secretion but also produced in the kidney in alkaptonuria. ⁶¹	Ranganath LR...Gallagher JA	31609457	2019
35	Corneal and Scleral Problems Caused by Skin-Lightening Creams. ⁶¹	Hollick EJ...Jones SM	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	Ranganath LR...Gallagher JA	31282009	2019
37	The color of skin: gray diseases of the skin, nails, and mucosa. ⁶¹	Abdel-Naser MB	31896405	2019
38	Endogenous ochronosis: a dermoscopic view. ⁶¹	Ankad BS...Nikam BP	31115901	2019
39	Raman Spectroscopy identifies differences in ochronotic and non-ochronotic cartilage; a potential novel technique for monitoring ochronosis. ⁶¹	Taylor AM...Kerns JG	31022456	2019
40	Ochronotic arthritis and ochronotic Achilles tendon rupture in alkaptonuria: A 6 years follow-up case report in China. ⁶¹	Jiang L...Miao X	31441856	2019
41	ARTHROPLASTY IN ALKAPTONURIC OCHRONOSIS. ⁶¹	Zmerly H...Di Gregori V	31577082	2019
42	No ochronosis was seen at internal thoracic artery with alkaptonuria. ⁶¹	Watanabe T...Kawaharada N	30417683	2019
43	[Surgery in the dark - a case of Cardiac Ochronosis]. ⁶¹	Pissarra D...Pinho P	31734977	2019
44	Ochronosis Involvement and Extensity With 18F-FDG PET/CT. ⁶¹	Acar E...Birlik M	30829862	2019
45	Serum Oxidative-Antioxidative Status in Patients With Alkaptonuria. ⁶¹	Albatayneh EM...Alnawaiseh NA	31019628	2019
46	Alkaptonuria-an atypical case: multi-modality imaging review. ⁶¹	Ethiraj D...Prabakaran M	30406834	2019
47	Homogentisic acid induces morphological and mechanical aberration of ochronotic cartilage in alkaptonuria. ⁶¹	Bernardini G...Santucci A	30341892	2019
48	Ochronosis Presenting as Methemoglobinemia. ⁶¹	Hugar SB...Nine J	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	Kirsch B...Sluzevich JC	31320976	2019
50	Exogenous ochronosis: the failure of depigmenting creams. ⁶¹	Sanchez-Martinez EM...Mateu-Puchades A	31046915	2019

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Genes for Ochronosis

Genes related to Ochronosis (0 elite genes):

(show all 11)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	HGD	Homogentisate 1,2-Dioxygenase	Protein Coding	29.23	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴ GeneCards inferred via : Publications (show sections)	9214216 10461246 16371803 (more) 10340975 10388955 15529343 15931605 12546396 15727283 1495952 12501223 8571731 17213354
2	HPD	4-Hydroxyphenylpyruvate Dioxygenase	Protein Coding	13.56	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
3	NAA30	N-Alpha-Acetyltransferase 30, NatC Catalytic Subunit	Protein Coding	7.56	DISEASES inferred ¹⁵
4	CRYAA	Crystallin Alpha A	Protein Coding	6.84	DISEASES inferred ¹⁵ ¹⁵
5	TYR	Tyrosinase	Protein Coding	6.09	DISEASES inferred ¹⁵
6	NAA50	N-Alpha-Acetyltransferase 50, NatE Catalytic Subunit	Protein Coding	6.04	DISEASES inferred ¹⁵
7	MRAP	Melanocortin 2 Receptor Accessory Protein	Protein Coding	5.83	DISEASES inferred ¹⁵
8	TYRP1	Tyrosinase Related Protein 1	Protein Coding	5.77	DISEASES inferred ¹⁵
9	MITF	Melanocyte Inducing Transcription Factor	Protein Coding	5.68	DISEASES inferred ¹⁵
10	NT5C1B	5'-Nucleotidase, Cytosolic IB	Protein Coding	5.36	DISEASES inferred ¹⁵
11	MC1R	Melanocortin 1 Receptor	Protein Coding	5.1	DISEASES inferred ¹⁵

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Variations for Ochronosis

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Expression for Ochronosis

Search GEO for disease gene expression data for Ochronosis.

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Pathways for Ochronosis

Pathways related to Ochronosis according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Aldosterone synthesis and secretion ³⁶ Show member pathways Ca2+ activated K+ channels ⁶⁵ Cortisol synthesis and secretion ³⁶ Cushing syndrome ³⁶ Insulin secretion ³⁶ Melanogenesis ³⁶ Thyroid hormone synthesis ³⁶	12.32	TYRP1 TYR MRAP MITF MC1R
2	Melanocyte Development and Pigmentation ⁶³	10.87	MITF MC1R
3	Tyrosine metabolism ³⁶ Show member pathways Phenylalanine metabolism ³⁶ Phenylalanine, tyrosine and tryptophan biosynthesis ³⁶ Tyrosine metabolism p.1 (dopamine) ²²	10.81	TYRP1 TYR HPD HGD
4	Melanin biosynthesis ⁶⁵	9.65	TYRP1 TYR

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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

Sources for Ochronosis

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia