MCID: OCL002
MIFTS: 51

Oculocutaneous Albinism malady

Categories: Genetic diseases, Rare diseases, Eye diseases, Skin diseases, Metabolic diseases

Aliases & Classifications for Oculocutaneous Albinism

About this section

Aliases & Descriptions for Oculocutaneous Albinism:

Name: Oculocutaneous Albinism 11 48 25 13
Albinism, Oculocutaneous 48 25 27
 
Oca 48 25
Albinism Oculocutaneous 50

Classifications:



External Ids:

Disease Ontology11 DOID:0050632
ICD1030 E70.3

Summaries for Oculocutaneous Albinism

About this section
Genetics Home Reference:25 Oculocutaneous albinism is a group of conditions that affect coloring (pigmentation) of the skin, hair, and eyes. Affected individuals typically have very fair skin and white or light-colored hair. Long-term sun exposure greatly increases the risk of skin damage and skin cancers, including an aggressive form of skin cancer called melanoma, in people with this condition. Oculocutaneous albinism also reduces pigmentation of the colored part of the eye (the iris) and the light-sensitive tissue at the back of the eye (the retina). People with this condition usually have vision problems such as reduced sharpness; rapid, involuntary eye movements (nystagmus); and increased sensitivity to light (photophobia).

MalaCards based summary: Oculocutaneous Albinism, also known as albinism, oculocutaneous, is related to chediak-higashi syndrome and albinism, oculocutaneous, type ia, and has symptoms including visual impairment, nystagmus and cutaneous photosensitivity. An important gene associated with Oculocutaneous Albinism is OCA2 (OCA2 Melanosomal Transmembrane Protein). Affiliated tissues include skin, eye and retina, and related mouse phenotypes are renal/urinary system and behavior/neurological.

Disease Ontology:11 An autosomal recessive disease characterized by abnormal pigmentation of the skin, hair and eyes.

NIH Rare Diseases:48 Oculocutaneous albinism is a group of conditions that affect the coloring of the hair and eyes.  Individuals affected by oculocutaneous albinism have very light skin and light-colored irises; they may also have vision problems such as decreased sharpness of vision, rapid eye movements (nystagmus), crossed eyes (strabismus), or increased sensitivity to light (photophobia).  All types of oculocutaneous albinism are caused by gene mutations that are inherited in an autosomal recessive manner.  Treatment includes covering the skin from sun exposure by using sunscreen and protective clothing and attending to vision problems by wearing glasses. Last updated: 10/17/2012

Wikipedia:71 Oculocutaneous albinism (OCA) is a form of albinism involving the eyes (oculo-), the skin (-cutaneous),... more...

Related Diseases for Oculocutaneous Albinism

About this section

Diseases in the Oculocutaneous Albinism family:

Albinism, Oculocutaneous, Type V Albinism, Oculocutaneous, Type Iv
Albinism, Oculocutaneous, Type Iii Albinism, Oculocutaneous, Type Vii
Albinism, Oculocutaneous, Type Ia Albinism, Oculocutaneous, Type Ib
Albinism, Oculocutaneous, Type Ii Albinism, Oculocutaneous, Type Vi

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

(show top 50)    (show all 77)
idRelated DiseaseScoreTop Affiliating Genes
1chediak-higashi syndrome32.9TYR, TYRP1
2albinism, oculocutaneous, type ia12.0
3albinism, oculocutaneous, type ii12.0
4minimal pigment oculocutaneous albinism type 112.0
5albinism, oculocutaneous, type ib11.9
6albinism, oculocutaneous, type vi11.8
7brown oca11.8
8albinism, oculocutaneous, type v11.7
9hermansky-pudlak syndrome 211.7
10albinism, oculocutaneous, type iii11.5
11albinism, oculocutaneous, type iv11.4
12ocular albinism11.3
13albinism, oculocutaneous, type vii11.3
14albinism11.1
15hermansky-pudlak syndrome 111.1
16hermansky-pudlak syndrome 311.0
17pancreatitis, hereditary11.0
18hermansky-pudlak syndrome 711.0
19hermansky-pudlak syndrome 611.0
20hermansky-pudlak syndrome 511.0
21hermansky-pudlak syndrome 911.0
22hermansky-pudlak syndrome 811.0
23hermansky-pudlak syndrome 411.0
24albinism, minimal pigment type11.0
25kotzot-richter syndrome11.0
26systolic heart failure10.3OCA2, TYR
27conjunctival folliculosis10.2OCA2, TYR
28choroiditis10.2
29amelanotic melanoma10.2
30nail disorder, nonsyndromic congenital, 710.2TYR, TYRP1
31dyschromatosis symmetrica hereditaria10.0OCA2, TYR, TYRP1
32schizophrenia10.0
33prader-willi syndrome10.0
34angelman syndrome10.0
35cataract10.0
36keratoconus10.0
37pulmonary fibrosis10.0
38conjunctival pigmentation9.9TYR, TYRP1
39acute pandysautonomia9.9HPS3, HPS6
40trichomegaly9.9
41alpha-methylacyl-coa racemase deficiency9.9
42aniridia9.9
43cryptorchidism9.9
44menkes disease9.9
45hemophilia b9.9
46amelogenesis imperfecta9.9
47bipolar disorder9.9
48burns9.9
49hemophagocytic lymphohistiocytosis9.9
50motor neuron disease9.9

Graphical network of the top 20 diseases related to Oculocutaneous Albinism:



Diseases related to oculocutaneous albinism

Symptoms & Phenotypes for Oculocutaneous Albinism

About this section

Human phenotypes related to Oculocutaneous Albinism:

 64 (show all 13)
id Description HPO Frequency HPO Source Accession
1 visual impairment64 hallmark (90%) HP:0000505
2 nystagmus64 hallmark (90%) HP:0000639
3 cutaneous photosensitivity64 hallmark (90%) HP:0000992
4 ocular albinism64 hallmark (90%) HP:0001107
5 hypopigmentation of hair64 hallmark (90%) HP:0005599
6 generalized hypopigmentation64 hallmark (90%) HP:0007513
7 astigmatism64 typical (50%) HP:0000483
8 strabismus64 typical (50%) HP:0000486
9 hypermetropia64 typical (50%) HP:0000540
10 myopia64 typical (50%) HP:0000545
11 photophobia64 typical (50%) HP:0000613
12 abnormality of the macula64 typical (50%) HP:0001103
13 neoplasm of the skin64 occasional (7.5%) HP:0008069

MGI Mouse Phenotypes related to Oculocutaneous Albinism according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053679.1AP3B1, HPS4, HPS6, OCA2, TYR
2MP:00053867.9AP3B1, BLOC1S3, C10orf11, OCA2, SLC24A5, SLC45A2
3MP:00053827.9AP3B1, BLOC1S3, HPS4, HPS6, OCA2, SLC24A5
4MP:00053777.9AP3B1, BLOC1S3, HPS4, HPS6, OCA2, SLC24A5
5MP:00053787.3AP3B1, BLOC1S3, HPS4, HPS6, OCA2, SLC24A5
6MP:00053767.1AP3B1, C10orf11, HPS3, HPS4, HPS6, OCA2
7MP:00107716.8AP3B1, BLOC1S3, HPS3, HPS4, HPS6, OCA2
8MP:00011866.8AP3B1, BLOC1S3, HPS3, HPS4, HPS6, OCA2
9MP:00053916.0AP3B1, BLOC1S3, HPS3, HPS4, HPS6, OCA2

Drugs & Therapeutics for Oculocutaneous Albinism

About this section

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

(show top 50)    (show all 52)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
LevodopaapprovedPhase 238859-92-76047
Synonyms:
(-)-(3,4-Dihydroxyphenyl)alanine
(-)-3-(3,4-Dihydroxyphenyl)-L-alanine
(-)-3-(3,4-dihydroxyphenyl)-L-alanine
(-)-Dopa
(2S)-2-amino-3-(3,4-dihydroxyphenyl)propanoate
(2S)-2-amino-3-(3,4-dihydroxyphenyl)propanoic acid
(−)-3-(3,4-dihydroxyphenyl)-L-alanine
(−)-dopa
.Beta.-(3, 4-Dihydroxyphenyl)alanine
.Beta.-(3,4-Dihydroxyphenyl)-L-alanine
1E83F927-C221-46AA-B90A-81B33C5F3868
2-Amino-3-(3,4-dihydroxyphenyl)propanoic acid
23734-74-9
25525-15-9
3, 4-Dihydroxy-L-phenylalanine
3, 4-Dihydroxyphenylalanine
3,4-DIHYDROXYPHENYLALANINE
3,4-Dihydroxy-L-phenylalanine
3,4-Dihydroxyphenyl-L-alanine
3,4-Dihydroxyphenylalanine
3,4-Dihydroxyphenylalanine (VAN)
3,4-dihydroxy-L-phenylalanine
3,4-dihydroxyphenylalanine
3-(3,4-Dihydroxypheny
3-(3,4-Dihydroxyphenyl)-L-alanine
3-Hydroxy-L-tyrosine
34241-25-3
37830_FLUKA
587-45-1
59-92-7
72572-99-7
72573-00-3
88250-23-1
90638-38-3
AC-11686
AC1L1LOR
AC1Q4U7F
BIDD:GT0158
BPBio1_000059
BSPBio_000053
BSPBio_002354
Bendopa
Bio-0575
Biodopa
Brocadopa
C00355
C9H11NO4
CAS-59-92-7
CCRIS 3766
CHEBI:15765
CHEMBL1009
CID6047
Cerepap
Cidandopa
D 9628
D00059
D0600
D9628
D9628_SIGMA
DAH
DB01235
DOPA
Deadopa
Dihydroxy-L-phenylalanine
Dihydroxyphenylalanine
DivK1c_000452
Dopa
Dopaflex
Dopaidan
Dopal
Dopal-Fher
Dopal-fher
Dopalina
Dopar
Dopar (TN)
Doparkine
Doparl
Dopasol
Dopaston
Dopaston SE
Dopastone
Dopastral
Dopicar
Doprin
EINECS 200-445-2
EU-0100454
Eldopal
Eldopar
Eldopatec
Eurodopa
HMS1568C15
HMS1922J14
HMS2090O08
HMS2093N04
HMS501G14
HSDB 3348
Helfo DOPA
 
Helfo-Dopa
Helfo-dopa
IDI1_000452
IV Levodopa
InChI=1/C9H11NO4/c10-6(9(13)14)3-5-1-2-7(11)8(12)4-5/h1-2,4,6,11-12H,3,10H2,(H,13,14
Insulamina
KBio1_000452
KBio2_000934
KBio2_003502
KBio2_006070
KBioGR_001177
KBioSS_000934
L Dopa
L(-)-Dopa
L-(-)-Dopa
L-(3, 4-Dihydroxyphenyl)-.alpha.-alani
L-(3, 4-Dihydroxyphenyl)alanine
L-(o-Dihydroxyphenyl)alanine
L-.Beta.-(3,4-Dihydroxyphenyl)alanine
L-3,4-Dihydroxyphenylalanine
L-3,4-dihydroxyphenylalanine
L-3-(3,4-Dihydroxyphenyl)-Alanine
L-3-(3,4-Dihydroxyphenyl)alanine
L-3-Hydroxytyrosine
L-4-5-Dihydroxyphenylalanine
L-DOPA
L-DOPA, Parcopa, Atamet, Stalevo, Madopar, Prolopa, Dopar, 3,4-Dihydroxyphenylalanine, Levodopa
L-Dihydroxyphenylalanine
L-Dopa
L-O-Dihydroxyphenylalanine
L-b-(3,4-Dihydroxyphenyl)-a-alanine
L-beta-(3,4-Dihydroxyphenyl)-alpha-alanine
L-beta-(3,4-Dihydroxyphenyl)alanine
L-o-Hydroxytyrosine
LS-255
Laradopa
Larodopa
Ledopa
Levedopa
Levodopa
Levodopa (JP15/USP)
Levodopa (JP15/USP/INN)
Levodopa [USAN:INN:BAN:JAN]
Levodopum
Levodopum [INN-Latin]
Levopa
Lopac-D-9628
Lopac0_000454
MLS000028514
Maipedopa
MolPort-000-856-937
NCGC00015384-01
NCGC00016270-01
NCGC00016270-06
NCGC00093869-04
NINDS_000452
NSC 118381
NSC118381
PDSP1_001541
PDSP2_001525
Parda
Pardopa
Prestwick0_000017
Prestwick1_000017
Prestwick2_000017
Prestwick3_000017
Prestwick_185
Prodopa
Ro 4-6316
S1726_Selleck
SDCCGMLS-0066924.P001
SMR000058312
SPBio_000391
SPBio_001974
SPECTRUM2300205
Sobiodopa
Spectrum2_000496
Spectrum4_000539
Spectrum5_001899
Spectrum_000454
Syndopa
UNII-46627O600J
Veldopa
Weldopa
b-(3,4-Dihydroxyphenyl)-L-alanine
b-(3,4-Dihydroxyphenyl)-a-L-alanine
b-(3,4-Dihydroxyphenyl)alanine
beta-(3,4-Dihydroxyphenyl)-L-alanine
beta-(3,4-Dihydroxyphenyl)-alpha-L-alanine
beta-(3,4-Dihydroxyphenyl)-alpha-alanine
beta-(3,4-Dihydroxyphenyl)alanine
bmse000322
component of Sinemet
l)-L-alanine
nchembio.2007.55-comp26
nchembio.89-comp9
ne
β-(3,4-dihydroxyphenyl)alanine
2
DopamineapprovedPhase 2375951-61-6, 62-31-7681
Synonyms:
(3H)-Dopamine
.Beta.-(3,4-Dihydroxyphenyl)ethylamine hydrochloride
.alpha.-(3,4-Dihydroxyphenyl)-.beta.-aminoethane
1,2-Benzenediol, 4-(2-aminoethyl)- (9CI)
1,2-Benzenediol, 4-(2-aminoethyl)-, hydrochloride
1,2-Benzenediol, 4-(2-aminoethyl)-, labeled with tritium
153C5321-5FEE-4B0B-8925-F388F0EEEBD1
2-(3,4-Dihydroxyphenyl)ethylamine
2-(3,4-dihydroxyphenyl)ethylamine
2-benzenediol
3,4-Dihydroxyphenethylamine
3,4-Dihydroxyphenethylamine hydrochloride
3,4-Dihydroxyphenylethylamine
3,4-dihydroxyphenethylamine
3-Hydroxtyramine
3-Hydroxytyramine
3-Hydroxytyramine Hydrobromide
3-Hydroxytyramine hydrochloride
4-(2-Aminoethyl)-1,
4-(2-Aminoethyl)-1,2-benzenediol
4-(2-Aminoethyl)-1,2-bezenediol
4-(2-Aminoethyl)-Pyrocatechol
4-(2-Aminoethyl)benzene-1,2-diol
4-(2-Aminoethyl)catechol
4-(2-Aminoethyl)pyrocatechol
4-(2-Aminoethyl)pyrocatechol hydrochloride
4-(2-aminoethyl)-pyrocatechol
50444-17-2
51-61-6
62-31-7 (HYDROCHLORIDE)
AC1L19S5
AC1Q54AX
AC1Q54AY
AKOS003790978
ASL 279
BIDD:ER0506
BPBio1_001123
BSPBio_001932
Biomol-NT_000001
C03758
CHEBI:18243
CHEMBL59
CID681
D07870
DB00988
Deoxyepinephrine
DivK1c_000780
Dopamin
Dopamina
Dopamina [INN-Spanish]
Dopamine
Dopamine (INN)
Dopamine (USAN)(*hydrochloride*)
Dopamine [INN:BAN]
Dopaminum
Dopaminum [INN-Latin]
Dopastat
Dophamine
Dynatra
EINECS 200-110-0
HSDB 3068
Hydroxytyramin
Hydroxytyramine
IDI1_000780
IP 498
Intropin
Intropin [*hydrochloride*]
KBio1_000780
 
KBio2_001492
KBio2_002388
KBio2_002484
KBio2_004060
KBio2_004956
KBio2_005052
KBio2_006628
KBio2_007524
KBio2_007620
KBio3_001152
KBio3_002867
KBio3_002962
KBioGR_001129
KBioGR_002388
KBioGR_002484
KBioSS_001492
KBioSS_002393
KBioSS_002491
KW-3-060
L-DOPAMINE
L000232
LDP
LS-159
Lopac-H-8502
Lopac0_000586
Medopa (TN)
MolPort-001-641-000
NCGC00015519-01
NCGC00015519-08
NCGC00096050-01
NCGC00096050-02
NCGC00096050-03
NCGC00096050-04
NCGC00096050-05
NINDS_000780
NSC 173182
NSC169105
NSC173182
Oprea1_088821
Oxytyramine
Pyrocatechol, 4-(2-aminoethyl)- (8CI)
Pyrocatechol, 4-(2-aminoethyl)-, hydrochloride
Revimine
Revivan
SPBio_001205
SPECTRUM1505155
ST048774
STK301601
Spectrum2_001023
Spectrum3_000406
Spectrum4_000525
Spectrum5_000945
Spectrum_001012
UNII-VTD58H1Z2X
UPCMLD0ENAT5885989:001
a-(3,4-Dihydroxyphenyl)-b-aminoethane
alpha-(3,4-Dihydroxyphenyl)-beta-aminoethane
cMAP_000036
cMAP_000065
dopamine
hydroxytyramine
intropin
m-Hydroxytyramine hydrochloride
nchembio.105-comp9
nchembio.107-comp4
nchembio.284-comp1
nchembio.78-comp16
nchembio.89-comp3
nchembio705-8
nchembio801-comp8
3
CarbidopaapprovedPhase 217728860-95-934359, 38101
Synonyms:
(-)-L-alpha-Hydrazino-3,4-dihydroxy-alpha-methylhydrocinnamic acid
(-)-L-alpha-Hydrazino-3,4-dihydroxy-alpha-methylhydrocinnamic acid monohydrate
(2S)-3-(3,4-dihydroxyphenyl)-2-hydrazino-2-methylpropanoic acid
(2S)-3-(3,4-dihydroxyphenyl)-2-hydrazinyl-2-methylpropanoic acid
(2S)-3-(3,4-dihydroxyphenyl)-2-hydrazinyl-2-methylpropanoic acid hydrate
(2S)-3-(3,4-dihydroxyphenyl)-2-hydrazinyl-2-methylpropanoic acid monohydrate
(2S)-3-(3,4-dihydroxyphenyl)-2-hydrazinyl-2-methylpropanoic acid--water (1/1)
(S)-(-)-carbidopa
(S)-(-)-carbidopa hydrate
(S)-(−)-carbidopa
(S)-alpha--Hydrazino-3,4-dihydroxy-alpha--methyl-benzenepropanoic acid monohydrate
(S)-carbidopa
(S)-carbidopa hydrate
(alphaS)-alpha-hydrazino-3,4-dihydroxy-alpha-methylbenzenepropanoic acid
(alphaS)-alpha-hydrazino-3,4-dihydroxy-alpha-methylbenzenepropanoic acid monohydrate
(αS)-α-hydrazino-3,4-dihydroxy-α-methylbenzenepropanoic acid
27925-91-3
28860-95-9
31823-41-3
38821-49-7
AC-1676
AC1L1RFR
AC1L1Z32
AC1Q5QGW
Atamet
BB_SC-5095
Benzenepropanoic acid, alpha-hydrazino-3,4-dihydroxy-alpha-methyl-, monohydrate, (S)
C-126
C-DOPA
C126_SIGMA
C1335_SIGMA
CCRIS 5093
CHEBI:3395
CHEBI:39585
CHEMBL1200748
CHEMBL1201236
CID34359
CID38101
CPD-11550
Carbidopa (anhydrous)
Carbidopa Anhydrous
Carbidopa Monohydrate
Carbidopa [USAN:INN:BAN]
Carbidopa anhydrous
Carbidopa hydrate
Carbidopa, (S)-Isomer
Carbidopa, Entacapone, & Levodopa
Carbidopa-1-wasser
 
Carbidopum
Carbidopum [INN-Latin]
DB00190
EINECS 249-271-9
EU-0100382
HMS2089B12
Hadrazino-alpha-methyldopa
Hydrocinnamic acid, (-)-L-alpha-hydrazino-3,4-dihydroxy-alpha-methyl-, monohydrate
KINSON, 3-(3,4-DIHYDROXY-PHENYL)-2-HYDRAZINO-2-METHYL-PROPIONIC ACID
L-3-(3,4-Dihydroxyphenyl)-2-methyl-2-hydrazinopropionic acid
L-3-(3,4-dihydroxyphenyl)-2-methyl-2-hydrazinopropionic acid
L-alpha-(3,4-dihydroxybenzyl)-alpha-hydrazinopropionic acid monohydrate
L-alpha-Methyl-alpha-hydrazino-beta-(3,4-dihydroxyphenylpropionic acid
L-alpha-Methyl-beta-(3,4-dihydroxyphenyl)-alpha-hydrazinopropionic acid
L-alpha-Methyldopahydrazine
L-α-methyldopahydrazine
LS-77199
Lodosin
Lodosyn
Lodosyn, Carbidopa
Lopac0_000382
MK 486
MK-485
MK-486
MLS000069628
MLS002207014
Methyldopahydrazine
MolPort-003-940-629
MolPort-005-934-181
N-Aminomethyldopa
NCGC00024596-01
NCGC00024596-03
NCGC00024596-05
NCGC00024596-06
S(-)-CARBIDOPA
S(-)-alpha-Hydrazino-3,4-dihydroxy-alpha-methylhydrocinnamic acid monohydrate
S-(-)-Carbidopa
S-(-)-alpha-Hydrazino-3,4-dihydroxy-2-methylbenzenepropanoic acid
S1891_Selleck
SMP1_000057
SMR000058235
ST055523
Stalevo
Tocris-0455
UNII-KR87B45RGH
UNII-MNX7R8C5VO
alpha-Hydrazino-alpha-methyl-beta-(3,4-dihydroxyphenyl)propionic acid
alpha-Methyldopahydrazine
carbidopa
carbidopum monohydricum
4
Nitisinoneapproved, investigationalPhase 1, Phase 214104206-65-7115355
Synonyms:
104206-65-7
2-(2-Nitro-4-trifluoromethylbenzoyl)cyclohexane-1,3-dione
2-(2-nitro-4-trifluoromethylbenzoyl)-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-[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
Nitisinone
Nitisinone (JAN/USAN/INN)
Nitisinone (NTBC)
Nitisinone [INN]
Nitisinone [USAN:INN]
Nitisinonum
Nitisone
Orfadin
Orfadin (TN)
SC 0735
UNII-K5BN214699
nitisinona
nitisinonum
5
Erythromycinapproved, vet_approvedPhase 1, Phase 295114-07-812560
Synonyms:
(3R,4S,5S,6R,7R,9R,11R,12R,13S,14R)-6-{[(2S,3R,4S,6R)-4-(dimethylamino)-3-hydroxy-6-methyltetrahydro-2H-pyran-2-yl]oxy}-14-ethyl-7,12,13-trihydroxy-4-{[(2R,4R,5S,6S)-5-hydroxy-4-methoxy-4,6-dimethyltetrahydro-2H-pyran-2-yl]oxy}-3,5,7,9,11,13-hexamethyloxacyclotetradecane-2,10-dione
,10-dione
114-07-8
3''-O-demethylerythromycin
374700-25-1
45673_FLUKA
45674_FLUKA
79235-06-6
82343-12-2
A/T/S
AC-12744
AC1L1FIQ
AC1L1QK7
AC1L1ZUR
AC1O8PVA
AC1Q2UA1
AC1Q6O1S
AI3-50138
AR-1A4414
AR-1H0723
Abboticin
Abomacetin
Acneryne
Acnesol
Ak-Mycin
Ak-mycin
Akne Cordes Losung
Akne-Mycin
Akne-mycin (TN)
Aknederm Ery Gel
Aknemycin
Aknin
AustriaS
BB_NC-1332
BIDD:GT0017
BPBio1_000312
BSPBio_000282
BSPBio_002480
Benzamycin
Benzamycin Pak
Bristamycin
C-Solve-2
C01912
C37H67NO13
CCRIS 9078
CHEBI:42355
CHEMBL532
CID12560
CID3255
CID6713919
CID8233
D00140
DB00199
Del-Mycin
Derimer
Deripil
DivK1c_000294
DivK1c_000397
DivK1c_000702
Dotycin
Dumotrycin
E- mycin, Erycin, Robimysin
E-Base
E-Base (base)
E-Glades
E-Mycin
E-Mycin (base)
E-Solve 2
E0751
E0774_SIAL
E5389_SIGMA
E6376_SIAL
E7904_SIGMA
EINECS 204-040-1
EM
EMU
ERY
ERYC
ERYC (base)
ERYTHROMYCIN STEARATE
ETS
Emgel
Emu-V
Emu-Ve
Emuvin
Emycin
Endoeritrin
Erecin
Erimycin-T
Erisone
Eritomicina
Eritrocina
Eritromicina
Eritromicina [INN-Spanish]
Ermycin
Eros
Ery-B
Ery-Diolan
Ery-Sol
Ery-Tab
Ery-Tab (base)
Ery-maxin
Eryacne
Eryacnen
Eryc
Eryc (TN)
Eryc 125
Eryc Sprinkles
Eryc-125
Eryc-250
Erycen
Erycette
Erycin
Erycinum
Eryderm
Erydermer
Erygel
Erygel (TN)
Eryhexal
Erymax
Erymed
Erypar
Erysafe
Erytab
Erythra-Derm
Erythro
Erythro-Statin
Erythro-Teva
Erythrocin
Erythrocin Stearate
Erythroderm
Erythrogran
Erythroguent
Erythromast 36
Erythromid
Erythromycin
Erythromycin & VRC3375
Erythromycin (JP15/USP/INN)
 
Erythromycin A
Erythromycin A, T-Stat, Pantomicina, HSDB 3074, Erytab, DRG-0279
Erythromycin B
Erythromycin C
Erythromycin Lactate
Erythromycin Ointment
Erythromycin Stearate
Erythromycin [INN:BAN:JAN]
Erythromycin base
Erythromycin estolate
Erythromycin ethylsuccinate
Erythromycin glucoheptonate
Erythromycin intravenous
Erythromycin lactobionate
Erythromycin oxime
Erythromycin sodium lauryl sulfate
Erythromycin, compd. with monododecyl sulfate, sodium salt
Erythromycine
Erythromycine [INN-French]
Erythromycinum
Erythromycinum [INN-Latin]
Erytop
Erytrociclin
Ethril 250
HMS1568O04
HMS1920M04
HMS2091D05
HMS500O16
HSDB 3074
I06-0245
IDI1_000294
IDI1_000397
IDI1_000702
Ilocaps
Ilosone
Ilosone (estolate)
Iloticina
Ilotycin
Ilotycin Gluceptate
Ilotycin T.S
Ilotycin T.S.
Inderm
Inderm Gel
IndermRetcin
KBio1_000294
KBio1_000397
KBio1_000702
KBio2_000555
KBio2_001139
KBio2_003123
KBio2_003707
KBio2_005691
KBio2_006275
KBioGR_001175
KBioSS_000555
KBioSS_001139
KST-1A8261
Kesso-Mycin
LMPK04000006
LS-187077
LS-64648
Latotryd
Lederpax
MLS001066618
Mephamycin
Mercina
MolPort-000-772-161
MolPort-002-507-378
MolPort-003-933-429
N-Methylerythromycin A
NCGC00179619-01
NCI-C55674
NINDS_000294
NINDS_000397
NINDS_000702
NSC 55929
NSC55929
Oftalmolosa Cusi Eritromicina
Oftamolets
PCE Dispertab (base)
Paediathrocin
Pantoderm
Pantodrin
Pantomicina
Pce
Pce (TN)
Pfizer-e
Pharyngocin
Prestwick0_000151
Prestwick1_000151
Prestwick2_000151
Prestwick3_000151
Prestwick_205
Primacine
Propiocine
Proterytrin
R-P Mycin
Retcin
Robimycin
Romycin
SBB057401
SMP1_000119
SMR000544946
SPBio_000778
SPBio_001226
SPBio_002221
SPECTRUM1500280
STK249736
Sans-acne
Sansac
Serp-AFD
Skid Gel E
Spectrum2_000759
Spectrum2_001263
Spectrum4_000538
Spectrum5_001596
Spectrum_000115
Spectrum_000659
Staticin
Staticin (TN)
Stiemicyn
Stiemycin
Sulfuric acid, monododecyl ester, sodium salt, compd. with erythromycin
T-Stat
T-stat (TN)
Taimoxin-F
Theramycin Z
Tiloryth
Tiprocin
Torlamicina
UNII-63937KV33D
Udima Ery Gel
Wemid
Wyamycin S
adecane-2,10-dione (non-preferred name)
bmse000664
erythro
erythromycin
nchembio.285-comp13
érythromycine
6
AcetylcysteineapprovedPhase 1, Phase 2316616-91-112035
Synonyms:
(2R)-2-acetylamino-3-Sulfanylpropanoic acid
(R)-2-acetylamino-3-Mercaptopropanoic acid
(R)-Mercapturic acid
2-Acetylamino-3-mercapto-propionate
2-Acetylamino-3-mercapto-propionic acid
ACC
Acetadote
Acetilcisteina
Acetylcysteine
Acetylcysteinum
Fluimicil Infantil
Fluimucetin
Fluimucil
Flumucetin
 
Fluprowit
L-Acetylcysteine
L-alpha-acetamido-beta-Mercaptopropionic acid
Lysox
Mercapturic acid
Mucolysin
Mucomyst
N-ACETYL-L-cysteine
N-Acety-L-Cysteine
N-Acetyl-3-mercaptoalanine
N-Acetyl-L-(+)-cysteine
N-Acetylcysteine
N-acetylcysteine
NAC
Parvolex
Sodium 2-acetamido-3-mercaptopropionate
7
LosartanapprovedPhase 1, Phase 2282114798-26-43961
Synonyms:
(2-Butyl-4-chloro-1-{[2'-(1H-tetrazol-5-yl)biphenyl-4-yl]methyl}-1H-imidazol-5-yl)methanol
(2-butyl-4-chloro-1-{[2'-(1H-tetrazol-5-yl)[1,1'-biphenyl]-4-yl]methyl}-1H-imidazol-5-yl)methanol
(2-butyl-4-chloro-1-{[2'-(1H-tetrazol-5-yl)biphenyl-4-yl]methyl}-1H-imidazol-5-yl)methanol
114798-26-4
124750-99-8 (mono-potassium salt)
1H-Imidazole-5-methanol, 2-butyl-4-chloro-1-[[2'-(1H-tetrazol-5-yl)[1,1'-biphenyl]-4-yl]methyl]- (9CI)
2-Butyl-4-chloro-1-((2'-(1H-etrazol-5-yl) (1,1'-biphenyl)-4-yl)methyl)-1H-imidazole-5-methanol
2-Butyl-4-chloro-1-[[2'-(1H-tetrazol-5-yl)[1,1'-biphenyl]-4-yl]methyl-1H-imidazole-5-methanol
2-N-Butyl-4-chloro-5-hydroxymethyl-1-[(2'-(1H-tetrazol-5-yl)biphenyl-4-yl)methyl]imidazole
2-butyl-4-chloro-1-[p-(o-1H-tetrazol-5ylphenyl)benzyl]imidazole-5-methanol
2-n-butyl-4-chloro-5-hydroxymethyl-1-[(2'-(1H-tetrazol-5-yl)biphenyl-4-yl)methyl]imidazole
2-n-butyl-4-chloro-5-hydroxymethyl-1-[[2'-(1H-tetrazol-5-yl)-biphenyl-4-yl]methyl]imidazole
AC1L1H3Q
BIDD:GT0286
BRD-K76205745-001-02-5
BSPBio_002695
C07072
C22H23ClN6O
CHEBI:6541
CHEMBL191
CID3961
CL23623
Cozaar
D08146
DB00678
DUP 89
DuP 89
DuP-753
HMS1922J13
HMS2093E22
Hyzaar
I14-9710
Jsp001094
KBio2_002193
 
KBio2_004761
KBio2_007329
KBio3_001915
KBioGR_001611
KBioSS_002193
L000351
LOSARTAN POTASSIUM
LS-78746
Lacidipine
Lortaan
Losartan
Losartan (INN)
Losartan Potassium
Losartan [INN:BAN]
Losartan monopotassium salt
Losartic
Losartic (TN)
MK-954
MK954
MolPort-003-666-553
NCGC00095125-01
NCGC00095125-02
NCGC00095125-03
Oprea1_644635
SPBio_001893
SPECTRUM1504268
Spectrum2_001677
Spectrum3_000998
Spectrum4_001126
Spectrum5_001466
Spectrum_001713
UNII-JMS50MPO89
[2-butyl-5-chloro-3-[[4-[2-(2H-tetrazol-5-yl)phenyl]phenyl]methyl]imidazol-4-yl]methanol
losartan
losartan potassium
8
PravastatinapprovedPhase 1, Phase 214981093-37-054687
Synonyms:
(+)-(3R,5R)-3,5-Dihydroxy-7-[(1S,2S,6S,8S,8ar)-6-hydroxy-2-methyl-8-{[(S)-2-methylbutyryl]oxy}-1,2,6,7,8,8a-hexahydro-1-naphthyl]heptanoic acid
(3R,5R)-3,5-dihydroxy-7-[(1S,2S,6S,8S,8aR)-6-hydroxy-2-methyl-8-{[(2S)-2-methylbutanoyl]oxy}-1,2,6,7,8,8a-hexahydronaphthalen-1-yl]heptanoic acid
(3R,5R)-7-[(1S,2S,6S,8S,8aR)-6-hydroxy-2-methyl-8-[(2S)-2-methylbutanoyl]oxy-1,2,6,7,8,8a-hexahydronaphthalen-1-yl]-3,5-dihydroxyheptanoic acid
1,2,6,7,8,8a-hexahydro-beta,delta,6-trihydroxy-2-methyl-8-(2-methyl-1-oxobutoxy)-, (1S-(1alpha(betaS*,deltaS*),2alpha,6alpha,8beta(R*),8aalpha))-1-Naphthaleneheptanoic acid
3beta-Hydroxycompactin
81093-37-0
81131-70-6 (hydrochloride salt)
AC1L1HJL
AC1Q5T3M
BIDD:GT0773
BRD-K60511616-236-01-4
C01844
C23H36O7
CCRIS 7557
CHEMBL1144
CID54687
Compactin
D08410
DB00175
Elisor
Eptastatin
FT-0082682
KS-5015
LS-94713
Lipostat
Mevalothin
Mevalotin
Mevastatin
Mevinolin
 
Oliprevin
Pravachol
Pravaselect
Pravastatin (INN)
Pravastatin Sodium
Pravastatin Sodium Salt
Pravastatin [INN:BAN]
Pravastatin acid
Pravastatin sodium
Pravastatin tert-Octylamine Salt
Pravastatina
Pravastatina [Spanish]
Pravastatine
Pravastatine [French]
Pravastatinum
Pravastatinum [Latin]
Pravator
Pravator (TN)
RMS-431
SQ-31,000
Selectin
Selektine
Selipran
UNII-KXO2KT9N0G
Vasten
nchembio.301-comp7
nchembio790-comp15
pravastatin
pravastatina
pravastatine
pravastatinum
9
PirfenidoneinvestigationalPhase 24953179-13-840632
Synonyms:
5-21-07-00197 (Beilstein Handbook Reference)
5-Methyl-1-phenyl-1H-pyridin-2-one
5-Methyl-1-phenyl-2(1H)-pyridone
5-Methyl-1-phenyl-2-(1H)-pyridone
5-methyl-1-phenylpyridin-2(1H)-one
5-methyl-1-phenylpyridin-2-one
53179-13-8
AC-6797
AC1L2454
AMR 69
AMR-69
BRD-K96862998-001-03-1
BRN 1526549
Bio1_000397
Bio1_000886
Bio1_001375
C093844
C12H11NO
CID40632
D01583
Deskar
EN000704
EU-0100907
Esbriet
F-647
FT-0082541
 
I01-1466
KS-5041
LS-133834
Lopac-P-2116
Lopac0_000907
MLS000860042
NCGC00015806-01
NCGC00015806-03
NCGC00015806-05
NCGC00024992-01
NCGC00024992-02
NCGC00024992-03
P 2116
P2116_SIGMA
PIRFENIDONE
Pirespa
Pirfenidona
Pirfenidona [INN-Spanish]
Pirfenidone (Deskar)
Pirfenidone (JAN/USAN/INN)
Pirfenidone [USAN:INN]
Pirfenidonum
Pirfenidonum [INN-Latin]
S-7701
SMR000326900
Tocris-1093
ZINC00001958
10Peripheral Nervous System AgentsPhase 2, Phase 122776
11Aromatic Amino Acid Decarboxylase InhibitorsPhase 2148
12Autonomic AgentsPhase 29774
13Antiparkinson AgentsPhase 21527
14Carbidopa, levodopa drug combinationPhase 2120
15Dopamine AgentsPhase 23759
16Protective AgentsPhase 2, Phase 17190
17Neurotransmitter AgentsPhase 217734
18Anti-Inflammatory Agents, Non-SteroidalPhase 2, Phase 14295
19AnalgesicsPhase 2, Phase 111287
20Anti-Inflammatory AgentsPhase 2, Phase 110355
21Analgesics, Non-NarcoticPhase 2, Phase 16260
22Antirheumatic AgentsPhase 2, Phase 110627
23Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 1, Phase 212767
24Hydroxymethylglutaryl-CoA Reductase InhibitorsPhase 1, Phase 21956
25HormonesPhase 1, Phase 213979
26Hypolipidemic AgentsPhase 1, Phase 22721
27Gastrointestinal AgentsPhase 1, Phase 28109
28Hormone AntagonistsPhase 1, Phase 212778
29Pharmaceutical SolutionsPhase 1, Phase 27793
30Respiratory System AgentsPhase 1, Phase 24818
31ExpectorantsPhase 1, Phase 2388
32N-monoacetylcystinePhase 1, Phase 2316
33Lipoxygenase InhibitorsPhase 1, Phase 277
34Lipid Regulating AgentsPhase 1, Phase 22702
35Leukotriene AntagonistsPhase 1, Phase 2291
36Anticholesteremic AgentsPhase 1, Phase 21983
37Anti-Arrhythmia AgentsPhase 1, Phase 22969
38Anti-Bacterial AgentsPhase 1, Phase 210884
39AngiotensinogenPhase 1, Phase 21161
40Angiotensin Receptor AntagonistsPhase 1, Phase 21173
41
Angiotensin IIPhase 1, Phase 2116268521-88-0, 11128-99-7172198, 65143
Synonyms:
1-8-Angiotensin I
1-L-Aspasaginyl-5-L-valyl angiotensin octapeptide
Ang II
Angiotensin 2
Angiotensin II (human)
 
Angiotensin II (mouse)
Angiotonin
Asp-arg-val-TYR-ile-his-pro-phe
Human angiotensin II
Hypertensin
Ile(5)-angiotensin II
42Angiotensin II Type 1 Receptor BlockersPhase 1, Phase 21078
43AntidotesPhase 1, Phase 21038
44Antihypertensive AgentsPhase 1, Phase 24095
45Erythromycin EstolatePhase 1, Phase 295
46Erythromycin EthylsuccinatePhase 1, Phase 295
47Antiviral AgentsPhase 1, Phase 29732
48AntioxidantsPhase 1, Phase 22928
49Anti-Infective AgentsPhase 1, Phase 221402
50AntimetabolitesPhase 1, Phase 211774

Interventional clinical trials:

(show all 12)
idNameStatusNCT IDPhase
1Vision Response to Dopamine ReplacementRecruitingNCT01663935Phase 2
2Nitisinone for Type 1B Oculocutaneous AlbinismActive, not recruitingNCT01838655Phase 1, Phase 2
3Oral Pirfenidone for the Pulmonary Fibrosis of Hermansky-Pudlak SyndromeActive, not recruitingNCT00001596Phase 2
4Pilot Study of a Multi-Drug Regimen for Severe Pulmonary Fibrosis in Hermansky-Pudlak SyndromeTerminatedNCT00467831Phase 1, Phase 2
5Medical Treatment of Colitis in Patients With Hermansky-Pudlak SyndromeWithdrawnNCT00514982Phase 2
6Visual Function and Ocular Pigmentation in AlbinismCompletedNCT00001153
7Clinical, Cellular, and Molecular Investigation Into Oculocutaneous AlbinismRecruitingNCT00808106
8The Effects of Lutein and Zeaxanthin Supplementation on Vision in Patients With AlbinismRecruitingNCT02200263
9Clinical and Basic Investigations Into Hermansky-Pudlak SyndromeRecruitingNCT00001456
10A Longitudinal Study of Hermansky-Pudlak Syndrome Pulmonary FibrosisRecruitingNCT02368340
11Study of Chediak-Higashi SyndromeRecruitingNCT00005917
12Clinical and Basic Investigations Into Erdheim Chester DiseaseRecruitingNCT01417520

Search NIH Clinical Center for Oculocutaneous Albinism

Genetic Tests for Oculocutaneous Albinism

About this section

Genetic tests related to Oculocutaneous Albinism:

id Genetic test Affiliating Genes
1 Oculocutaneous Albinism27

Anatomical Context for Oculocutaneous Albinism

About this section

MalaCards organs/tissues related to Oculocutaneous Albinism:

36
Skin, Eye, Retina, Testes, Nk cells, Bone

Publications for Oculocutaneous Albinism

About this section

Articles related to Oculocutaneous Albinism:

(show top 50)    (show all 364)
idTitleAuthorsYear
1
Identification of a novel mutation in HPS6 in a patient with hemophilia B and oculocutaneous albinism. (27641950)
2016
2
Mutation analysis of a Chinese family with oculocutaneous albinism. (27829221)
2016
3
Phacoemulsification and intraocular lens implantation in patients with oculocutaneous albinism. (27058854)
2016
4
Cutaneous freckling: Possible new clinical marker for the diagnosis of Hermansky-Pudlak syndrome in Indian Asian patients with oculocutaneous albinism. (27176668)
2016
5
Dome-shaped macula in oculocutaneous albinism. (27118754)
2016
6
A Functional Study of Mutations in K+-dependent Na+-Ca2+ Exchangers Associated with Amelogenesis Imperfecta and Non-syndromic Oculocutaneous Albinism. (27129268)
2016
7
PARTIAL OCULOCUTANEOUS ALBINISM AND IMMUNODEFICIENCY SYNDROMES: TEN YEARS EXPERIENCE FROM A SINGLE CENTER IN TURKEY. (27192893)
2016
8
Report from the 1st international workshop on oculocutaneous albinism in subsaharan Africa, Douala, Cameroon, July 24-25(th) 2015. (27412970)
2016
9
Population data of 13 nonCODIS STR markers located inside the 6 nonsyndromic oculocutaneous albinism genes. (26932870)
2016
10
Homozygosity mapping of a consanguineous Pakistani family affected with oculocutaneous albinism to Tyrosinase gene. (27275442)
2016
11
Femtosecond laser-assisted keratoplasty combined with cataract extraction in a patient with keratoconus and oculocutaneous albinism. (27146942)
2016
12
Melanotic Malignant Melanoma in Oculocutaneous Albinism Type 4. (27350326)
2016
13
Oculocutaneous Albinism Type 1: Link between Mutations, Tyrosinase Conformational Stability, and Enzymatic Activity. (27775880)
2016
14
Oculocutaneous albinism in a patient with 17p13.2-pter duplication - a review on the molecular syndromology of 17p13 duplication. (25690523)
2015
15
Positive selection with diversity in oculocutaneous albinisms type 2 gene (OCA2) among Japanese. (25469862)
2015
16
Partial Oculocutaneous Albinism: Two Siblings with Features of both Hermansky Pudlak and Waardenburg's Syndrome. (25933462)
2015
17
Suspected pathogenic mutation identified in two cases with oculocutaneous albinism]. (26252096)
2015
18
Oculocutaneous albinism. (25763554)
2015
19
A nonsense nucleotide substitution in the oculocutaneous albinism II gene underlies the original pink-eyed dilution allele (Oca2(p)) in mice. (25736709)
2015
20
Quality of life in patients with oculocutaneous albinism. (26375220)
2015
21
Two novel splicing mutations in the SLC45A2 gene cause Oculocutaneous Albinism Type IV by unmasking cryptic splice sites. (26016411)
2015
22
Prenatal genotyping of four common oculocutaneous albinism genes in 51 Chinese families. (26165494)
2015
23
Posterior staphyloma in oculocutaneous albinism: another possible cause of reduced visual acuity. (26691042)
2015
24
29-year-old man presenting with progressive dyspnea, oculocutaneous albinism, and epistaxis. (26033137)
2015
25
Genetic analyses of oculocutaneous albinism types 2 and 4 with eight novel mutations. (26573111)
2015
26
Oculocutaneous Albinism and Squamous Cell Carcinoma of the Skin of the Head and Neck in Sub-Saharan Africa. (26347819)
2015
27
Oculocutaneous albinism: developing novel antibodies targeting the proteins associated with OCA2 and OCA4. (25530116)
2015
28
Mutational spectrum of the TYR and SLC45A2 genes in Pakistani families with oculocutaneous albinism, and potential founder effect of missense substitution (p.Arg77Gln) of tyrosinase. (25703744)
2015
29
Combined cataract surgery and aniridia ring implantation in oculocutaneous albinism. (26703494)
2015
30
Mutational Analysis of the TYR and OCA2 Genes in Four Chinese Families with Oculocutaneous Albinism. (25919014)
2015
31
Visual deficits in Nepalese patients with oculocutaneous albinism. (25823539)
2015
32
Sequence analysis of tyrosinase gene in ocular and oculocutaneous albinism patients: introducing three novel mutations. (26167114)
2015
33
Dermoscopic features of a medium-sized congenital melanocytic nevus in oculocutaneous albinism. (26474820)
2015
34
Identification of a homozygous mutation of SLC24A5 (OCA6) in two patients with oculocutaneous albinism from French Guiana. (26491832)
2015
35
Authors' response: evaluation of choroidal thickness among patients with oculocutaneous albinism. (24876456)
2014
36
Oculocutaneous albinism (OCA) in Colombia: first molecular screening of the TYR and OCA2 genes in South America. (25455140)
2014
37
Chediak-Higashi Syndrome: A Case Report of a Girl Without Silvery Hair and Oculocutaneous Albinism Presenting with Hemophagocytic Lymphohistiocytosis. (25541665)
2014
38
SLC45A2 mutation frequency in Oculocutaneous Albinism Italian patients doesn't differ from other European studies. (24096233)
2014
39
Prenatal genetic diagnosis for two Chinese families affected with oculocutaneous albinism type a8!]. (25119903)
2014
40
Squamous cell carcinoma of external auditory canal lacking epidermal growth factor receptor protein overexpression, in an elderly Omani with oculocutaneous albinism treated with palliative radiotherapy. (24907210)
2014
41
A partial gene deletion of SLC45A2 causes oculocutaneous albinism in Doberman pinscher dogs. (24647637)
2014
42
An unusual combination of unilateral orbital plexiform neurofibroma in a patient with oculocutaneous albinism. (25005209)
2014
43
High-resolution array-CGH in patients with oculocutaneous albinism identifies new deletions of the TYR, OCA2, and SLC45A2 genes and a complex rearrangement of the OCA2 gene. (24118800)
2014
44
Mutational analysis of oculocutaneous albinism: a compact review. (25093188)
2014
45
Decreased subfoveal choroidal thickness and failure of emmetropisation in patients with oculocutaneous albinism. (24659353)
2014
46
A case of oculocutaneous albinism type 4: aberrant expression of SLC45A2 transcript with exon skipping. (25296693)
2014
47
Oculocutaneous albinism (OCA) in Japanese patients: five novel mutations. (24461674)
2014
48
SLC24A5 Mutations Are Associated with Non-Syndromic Oculocutaneous Albinism. (23985994)
2014
49
Two novel tyrosinase (TYR) gene mutations with pathogenic impact on oculocutaneous albinism type 1 (OCA1). (25216246)
2014
50
Oculocutaneous Albinism in Sub-Saharan Africa: Adverse Sun-Associated Health Effects and Photoprotection. (25298350)
2014

Variations for Oculocutaneous Albinism

About this section

Clinvar genetic disease variations for Oculocutaneous Albinism:

5
id Gene Variation Type Significance SNP ID Assembly Location
1TYRNM_000372.4(TYR): c.1118C> A (p.Thr373Lys)SNVPathogenicrs61754388GRCh37Chr 11, 88961072: 88961072
2TYRNM_000372.4(TYR): c.1217C> T (p.Pro406Leu)SNVPathogenicrs104894313GRCh37Chr 11, 89017973: 89017973
3OCA2NM_000275.2(OCA2): c.1327G> A (p.Val443Ile)SNVPathogenicrs121918166GRCh37Chr 15, 28230247: 28230247
4TYRNM_000372.4(TYR): c.1037-7T> ASNVLikely pathogenic, Pathogenicrs61754381GRCh37Chr 11, 88960984: 88960984

Expression for genes affiliated with Oculocutaneous Albinism

About this section
Search GEO for disease gene expression data for Oculocutaneous Albinism.

Pathways for genes affiliated with Oculocutaneous Albinism

About this section

GO Terms for genes affiliated with Oculocutaneous Albinism

About this section

Cellular components related to Oculocutaneous Albinism according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1BLOC-2 complexGO:00310849.9HPS3, HPS6
2axon cytoplasmGO:19041159.8AP3B1, BLOC1S3
3melanosome membraneGO:00331629.2OCA2, SLC45A2, TYR, TYRP1
4melanosomeGO:00424709.2HPS4, SLC24A5, TYR, TYRP1

Biological processes related to Oculocutaneous Albinism according to GeneCards Suite gene sharing:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1eye pigment biosynthetic processGO:000672610.6OCA2, TYR
2developmental pigmentationGO:004806610.5OCA2, SLC45A2
3anterograde axonal transportGO:000808910.0AP3B1, BLOC1S3
4anterograde synaptic vesicle transportGO:004849010.0AP3B1, BLOC1S3
5melanin biosynthetic processGO:00424389.9OCA2, SLC45A2, TYR, TYRP1
6response to stimulusGO:00508969.7SLC24A5, SLC45A2
7blood coagulationGO:00075969.6AP3B1, HPS4, HPS6
8melanosome organizationGO:00324389.6AP3B1, BLOC1S3, TYRP1
9organelle organizationGO:00069969.5HPS3, HPS4, HPS6
10melanocyte differentiationGO:00303188.9C10orf11, HPS4, HPS6, OCA2, TYRP1
11pigmentationGO:00434738.3BLOC1S3, HPS3, HPS6, OCA2, TYR, TYRP1

Molecular functions related to Oculocutaneous Albinism according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1copper ion bindingGO:000550710.2TYR, TYRP1
2GTP-dependent protein bindingGO:00307429.5AP3B1, HPS6

Sources for Oculocutaneous Albinism

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet