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

MCID: OCH001 MIFTS: 36	Ochronosis Categories: Bone diseases, Rare diseases
Genes Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs Expand all tables

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Aliases & Classifications for Ochronosis

MalaCards integrated aliases for Ochronosis:

Name: Ochronosis ¹² ⁷⁵ ⁵³ ⁵⁵ ⁴⁴ ¹⁵ ⁷²

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Bone diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:14223

MeSH ⁴⁴ D009794

NCIt ⁵⁰ C84938

SNOMED-CT ⁶⁸ 21924005

ICD10 ³³ E70.29

UMLS ⁷² C0028817

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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...

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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 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:

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Symptoms & Phenotypes for Ochronosis

UMLS symptoms related to Ochronosis:

muscle weakness, polydipsia, dry skin

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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 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	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

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Genetic Tests for Ochronosis

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Anatomical Context for Ochronosis

MalaCards organs/tissues related to Ochronosis:

⁴¹

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

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Publications for Ochronosis

Articles related to Ochronosis:

(show top 50) (show all 696)

#	Title	Authors	PMID	Year
1	Exogenous Ochronosis. ³⁸ ⁶	Bhattar PA...Gautam MM	26677264	2015
2	Aortic stenosis in cardiovascular ochronosis. ⁹ ³⁸	Ffolkes LV...Hughes SE	17213354	2007
3	Ochronotic arthropathy: disappearance of alkaptonuria after liver transplantation for hepatitis B-related cirrhosis. ⁹ ³⁸	Kobak AC...Inal V	16371803	2005
4	Use of nitisinone in patients with alkaptonuria. ⁹ ³⁸	Suwannarat P...Gahl WA	15931605	2005
5	Alkaptonuric ochronosis: a case report. ⁹ ³⁸	Collins E...Hand R	15727283	2005
6	Minocycline-induced hyperpigmentation masquerading as alkaptonuria in individuals with joint pain. ⁹ ³⁸	Suwannarat P...Gahl WA	15529343	2004
7	Alkaptonuria and lumbar disc herniation. Report of three cases. ⁹ ³⁸	Farzannia A...Hadidchi S	12546396	2003
8	Natural history of alkaptonuria. ⁹ ³⁸	Phornphutkul C...Gahl WA	12501223	2002
9	Aortic stenosis in endogenous ochronosis. ⁹ ³⁸	Casselman F...Daenen W	10461246	1999
10	Hereditary ochronosis: hyperpigmented skin overlying cartilaginous structures. ⁹ ³⁸	Garcia SF...Swetter SM	10388955	1999
11	Ocular ochronosis in alkaptonuria patients carrying mutations in the homogentisate 1,2-dioxygenase gene. ⁹ ³⁸	Felbor U...Kress W	10340975	1999
12	[Alkaptonuria, prostatic calculi, and ectopic ureter]. ⁹ ³⁸	Concepcion Masip T...Rodriguez de Minon Cifuentes JL	9214216	1997
13	The clinical manifestations of ochronosis: a review. ⁹ ³⁸	Van Offel JF...Stevens WJ	8571731	1995
14	Alkaptonuria and renal failure: a case report and review of the literature. ⁹ ³⁸	Venkataseshan VS...Needle MA	1495952	1992
15	Endogenous ochronosis: a dermoscopic view. ³⁸	Ankad BS...Nikam BP	31115901	2019
16	Raman Spectroscopy identifies differences in ochronotic and non-ochronotic cartilage; a potential novel technique for monitoring ochronosis. ³⁸	Taylor AM...Kerns JG	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	Ranganath LR...Gallagher JA	31282009	2019
18	No ochronosis was seen at internal thoracic artery with alkaptonuria. ³⁸	Watanabe T...Kawaharada N	30417683	2019
19	[Black knee-ochronotic alterations in alkaptonuria]. ³⁸	Maurer E...Kraus TM	31332451	2019
20	Management of a pseudarthrosis with sagittal malalignment in a patient with ochronotic spondyloarthropathy. ³⁸	Alkasem W...Bourghli A	31175484	2019
21	Corneal and Scleral Problems Caused by Skin-Lightening Creams. ³⁸	Hollick EJ...Jones SM	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	Kirsch B...Sluzevich JC	31320976	2019
23	Alkaptonuria-an atypical case: multi-modality imaging review. ³⁸	Ethiraj D...Prabakaran M	30406834	2019
24	Serum Oxidative-Antioxidative Status in Patients With Alkaptonuria. ³⁸	Albatayneh EM...Alnawaiseh NA	31019628	2019
25	Homogentisic acid induces morphological and mechanical aberration of ochronotic cartilage in alkaptonuria. ³⁸	Bernardini G...Santucci A	30341892	2019
26	Ochronosis Presenting as Methemoglobinemia. ³⁸	Hugar SB...Nine J	30229904	2019
27	Ochronosis Involvement and Extensity With 18F-FDG PET/CT. ³⁸	Acar E...Birlik M	30829862	2019
28	Endogenous ochronosis: when clinical suspicion prevails over histopathology. ³⁸	Sanchez-Martinez EM...Mateu-Puchades A	31046911	2019
29	Exogenous ochronosis: the failure of depigmenting creams. ³⁸	Sanchez-Martinez EM...Mateu-Puchades A	31046915	2019
30	Dermpath & Clinic: Exogenous ochronosis. ³⁸	Le Borgne De Lavillandre J...Kanitakis J	31106765	2019
31	Black-Colored Ligamentum Flavum Due to Alkaptonuria. ³⁸	Yucetas SC...Ucler N	30477028	2019
32	The Dark Side of the Heart: Cardiovascular Manifestation of Ochronosis. ³⁸	Planinc M...Rudez I	30926473	2019
33	A case of ochronosis successfully treated with the picosecond laser. ³⁸	Mendez Baca I...Anuzita A	30556284	2018
34	Knee and Hip Joint Replacement Surgery in a Patient with Ochronotic Arthropathy: Surgical Tips. ³⁸	Mazoochy H...Razi M	30637315	2018
35	Knee Arthroscopy: A Diagnostic and Therapeutic Tool for Management of Ochronotic Arthropathy. ³⁸	Stetson WB...Polinsky S	30533354	2018
36	Alkaptonuric Ochronosis and the Failure of Regional Cerebral Tissue Oxygen Saturation Monitoring by Two Different Near-infrared Spectroscopy Devices. ³⁸	Namekawa M...Yamashita S	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	Griffin R...Ranganath LR	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	Ranganath LR...Gallagher JA	30055994	2018
39	A case of exogenous ochronosis associated with hydroxychloroquine. ³⁸	Tekgoz E...Yilmaz S	30071940	2018
40	An Osteochondral Allograft in a Patient with Ochronosis: A Case Report. ³⁸	Rocchi V...Fraser MR	30045078	2018
41	Ochronosis of Mitral Valve and Coronary Arteries. ³⁸	Gottschalk BH...Guo L	29501639	2018
42	A rare case of ochronosis presenting with cervical compressive myelopathy. ³⁸	Nelanuthala M...Terapalli VK	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	Fernando OSF...Ricardo L	30687653	2018
44	Dermoscopic and laser confocal features of an exogenous ochronosis case. ³⁸	Constantin MM...Constantin T	29963804	2018
45	Fatal methemoglobinemia complicating alkaptonuria (ochronosis): a rare presentation. ³⁸	Freeman AR...Wills SM	29572623	2018
46	Ochronosis of the aortic valve. ³⁸	Selvakumar D...Singh T	29997987	2018
47	[Anesthetic management of two patients with alkaptonuric ochronosis for total knee arthroplasty]. ³⁸	Kozanhan B	28535941	2018
48	Woman in black: the cardiac ochronosis with severe aortic valve stenosis. ³⁸	Barbato L...Comoglio C	29092008	2018
49	Ocular Ochronosis. ³⁸	Rohrbach JM...Rock D	29739500	2018
50	Calcaneal Avulsion of an Ochronotic Achilles Tendon: A Case Report. ³⁸	Tanoglu O...Caydere M	29113706	2018

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Genes for Ochronosis

Genes related to Ochronosis (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	HGD	Homogentisate 1,2-Dioxygenase	Protein Coding	39.54	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ 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	22.12	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
3	MRAP	Melanocortin 2 Receptor Accessory Protein	Protein Coding	15.25	DISEASES inferred ¹⁵
4	NT5C1B	5'-Nucleotidase, Cytosolic IB	Protein Coding	15.19	DISEASES inferred ¹⁵
5	AMD1	Adenosylmethionine Decarboxylase 1	Protein Coding	14.26	DISEASES inferred ¹⁵
6	SAA1	Serum Amyloid A1	Protein Coding	13.46	DISEASES inferred ¹⁵
7	CD2	CD2 Molecule	Protein Coding	13.04	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	Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism ⁶⁶ Show member pathways 2-amino-3-carboxymuconate semialdehyde degradation to glutaryl-CoA ¹ 2-oxoglutarate decarboxylation to succinyl-CoA ¹ L-kynurenine degradation ¹ Lysine catabolism ⁶⁶ lysine degradation I (saccharopine pathway) ¹ Phenylalanine and tyrosine catabolism ⁶⁶ Proline catabolism ⁶⁶ proline degradation ¹ Tryptophan catabolism ⁶⁶ tryptophan degradation ¹ tryptophan degradation to 2-amino-3-carboxymuconate semialdehyde ¹ tyrosine degradation ¹	10.71	HPD HGD

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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

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 HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ TGDB

⁷¹ Tocris

⁷² UMLS

⁷³ UMLS via Orphanet

⁷⁴ UniProtKB/Swiss-Prot

⁷⁵ Wikipedia