MCID: ALB002
MIFTS: 43

Albinism malady

Categories: Genetic diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Albinism

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Summaries for Albinism

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NIH Rare Diseases:45 Albinism is a group of inherited disorders that results in little or no production of the pigment melanin, which determines the color of the skin, hair and eyes. melanin also plays a role in the development of certain optical nerves, so all forms of albinism cause problems with the development and function of the eyes. other symptoms can include light skin or changes in skin color; very white to brown hair; very light blue to brown eye color that may appear red in some light and may change with age; sensitivity to sun exposure; and increased risk of developing skin cancer. albinism is caused by mutations in one of several genes, and most types are inherited in an autosomal recessive manner. although there's no cure, people with the disorder can take steps to improve vision and avoid too much sun exposure. last updated: 4/8/2011

MalaCards based summary: Albinism is related to chediak-higashi syndrome and ocular albinism. An important gene associated with Albinism is TYR (Tyrosinase), and among its related pathways is Tyrosine metabolism. Affiliated tissues include skin, eye and heart, and related mouse phenotypes are craniofacial and hearing/vestibular/ear.

Wikipedia:68 Albinism in humans (from the Latin albus, \"white\"; see extended etymology, also called achromia,... more...

Related Diseases for Albinism

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

(show top 50)    (show all 152)
idRelated DiseaseScoreTop Affiliating Genes
1chediak-higashi syndrome32.3HPS1, TYR
2ocular albinism30.3C10orf11, OCA2, SLC24A5, SLC45A2, TYR, TYRP1
3oculocutaneous albinism12.4
4ocular albinism, x-linked12.3
5albinism, oculocutaneous, type ii12.3
6albinism, oculocutaneous, type ia12.3
7albinism, oculocutaneous, type ib12.3
8albinism, oculocutaneous, type iii12.3
9albinism, oculocutaneous, type iv12.2
10albinism, oculocutaneous, type vii12.2
11albinism, oculocutaneous, type vi12.2
12ocular albinism with sensorineural deafness12.2
13albinism-deafness syndrome12.1
14albinism, oculocutaneous, type v12.1
15waardenburg syndrome/ocular albinism, digenic12.1
16tietz albinism-deafness syndrome12.1
17ocular albinism, type i, nettleship-falls type12.1
18albinism immunodeficiency12.0
19temperature-sensitive oculocutaneous albinism type 111.9
20ocular albinism with congenital sensorineural deafness11.9
21minimal pigment oculocutaneous albinism type 111.9
22microcephaly-albinism-digital anomalies syndrome11.9
23albinism, minimal pigment type11.8
24hermansky-pudlak syndrome11.7
25aland island eye disease11.7
26griscelli syndrome11.6
27abcd syndrome11.5
28hermansky-pudlak syndrome 711.4
29hermansky-pudlak syndrome 911.4
30hermansky-pudlak syndrome 811.4
31piebaldism11.4
32hermansky-pudlak syndrome 211.3
33griscelli syndrome, type 211.3
34hermansky-pudlak syndrome 111.2
35griscelli syndrome, type 111.2
36hermansky-pudlak syndrome 311.2
37hermansky-pudlak syndrome 611.2
38hermansky-pudlak syndrome 511.2
39hermansky-pudlak syndrome 411.2
40foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis11.1
41kotzot-richter syndrome10.9
42autoimmune inner ear disease10.7
43waardenburg's syndrome10.4
44vici syndrome10.4
45melanoma10.2
46retinitis10.2
47chronic tympanitis10.2OCA2, TYR
48posterior mediastinum cancer10.1TYR, TYRP1
49cervical squamous cell carcinoma10.1
50amelanotic melanoma10.0

Graphical network of the top 20 diseases related to Albinism:



Diseases related to albinism

Symptoms for Albinism

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Drugs & Therapeutics for Albinism

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

(show top 50)    (show all 62)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Tretinoinapproved, investigational, nutraceuticalPhase 4210302-79-45538, 444795
Synonyms:
(all-E)-3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraenoate
(all-E)-3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraenoic acid
(all-e)-3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraenoic acid
.beta.-Retinoic acid
13497-05-7 (hydrochloride salt)
15-Apo-beta-caroten-15-oic acid
187175-63-9
1n4h
3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraenoate
3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraenoic acid
3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexene-1-yl)-2,4,6,8-nonatetraenoic acid (ecl)
302-79-4
5300-03-8
56573-65-0
7005-78-9
9(Z)-Retinoic acid
9-cis-RA
A-Acido (Argentina)
A-Vitaminsyre
A-Vitaminsyre [Denmark]
AC-6824
AC1L9GWO
AC1Q1J2J
AGN 100335
AGN 192013
AKOS000280845
ALRT 1057
AT-RA
ATRA
Aberel
Aberela
Aberela [Norway]
Accutane Roche
Acid A Vit (Belgium, Netherlands)
Acid, Retinoic
Acid, Vitamin A
Acid, all-trans-Retinoic
Acid, beta-all-trans-Retinoic
Acid, trans-Retinoic
Acide retinoique (French)
Acide retinoique (French) (DSL)
Acide retinoique (french) (dsl)
Acnavit
Acnavit [Denmark]
Airol
Aknefug
Aknoten
Alitretinoin
All Trans Retinoic Acid
All Trans-Retinoic Acid
All-(E)-Retinoate
All-(E)-Retinoic acid
All-trans Retinoic Acid
All-trans-Retinoate
All-trans-Retinoic acid
All-trans-Tretinoin
All-trans-Vitamin A acid
All-trans-Vitamin A1 acid
Alltrans-retinoic acid
Amnesteem
Atra-IV
Atragen
Atralin
Avita
Avita (TN)
Avita Gel
Avitoin
Avitoin [Norway]
BAL4079
BIDD:GT0483
BIDD:PXR0081
BML2-E05
BPBio1_000082
BRN 2057223
BSPBio_000074
BSPBio_001500
Betarretin
C00777
CCRIS 3294
CCRIS 7098
CHEBI:15367
CHEMBL38
CID444795
CPD000058245
Claravis
Cordes VAS [Germany]
Cordes vas
D00094
D014212
DB00523
DB00755
DB00982
Dermairol
EINECS 206-129-0
EU-0101061
Effederm
Effederm [France]
Epi-aberel
Eudyna
HMS1361K22
HMS1568D16
HMS1791K22
HMS1921D14
HMS1989K22
HMS2089D20
HMS2092N11
HMS502N05
HSDB 2169
HSDB 7186
I04-0008
I14-2351
IDI1_000903
IDI1_033970
Isotretinoin Retinoic acid
L000833
LGD 100057
LMPR01090019
LS-1154
Lopac0_001061
Lsotretinoin
MLS000028588
MLS001076515
MLS002207234
MLS002222211
MolPort-000-883-857
NCGC00017280-06
NCGC00017280-17
NCGC00021808-04
 
NCGC00021808-05
NCGC00021808-06
NCGC00021808-07
NCGC00021808-09
NCGC00021808-14
NCGC00021808-15
NSC 122758
NSC-122758
NSC122758
Nexret
Obagi
PDT-002-002
Panretin Gel
Panretyn
Potassium Salt, Tretinoin
Prestwick2_000257
Prestwick3_000257
Prestwick_424
R 2625
R0064
R2625_SIGMA
REA
RETINOIC ACID, ALL TRANS
RETINOIC acid
Refissa
Renova
Renova (TN)
Retacnyl
Retin A
Retin A (TN)
Retin-A
Retin-A Micro
Retin-a
Retin-a Micro
Retinoate
Retinoic acid
Retinoic acid, all-trans- (8CI)
Retinova
Retionic Acid
Retionic acid
Retisol-A
Retisol-a
Ro 1-5488
S1653_Selleck
SAM002264647
SMR000058245
SPECTRUM1502016
SR-01000000239
SR-01000000239-14
ST057075
Salt, Tretinoin Potassium
Salt, Tretinoin Sodium
Salt, Tretinoin Zinc
Sodium Salt, Tretinoin
Solage
Sotret
Spectrum5_001746
Spectrum5_001933
Stieva-A
Stieva-a
Stieva-a Forte
TRETINON
Tretin M
Tretin m
Tretin-x
Tretin.x
Tretinoin
Tretinoin (JAN/USP/INN)
Tretinoin (TN)
Tretinoin 0.1% cream or placebo
Tretinoin Cream
Tretinoin Gel Microsphere
Tretinoin Potassium Salt
Tretinoin Sodium Salt
Tretinoin Zinc Salt
Tretinoin [USAN:INN:BAN]
Tretinoin/All-Trans Retinoic Acid
Tretinoina
Tretinoina [INN-Spanish]
Tretinoine
Tretinoine (French)
Tretinoine (french) (einecs)
Tretinoine [INN-French]
Tretinoino
Tretinoino [INN-Spanish]
Tretinoinum
Tretinoinum [INN-Latin]
Tretinx
Tri-Luma
Trétinoïne
UNII-1UA8E65KDZ
UNII-5688UTC01R
UPCMLD-DP097
Vesanoid
Vesanoid (TN)
Vesanoid, Airol, Renova, Atralin, Retin-A, Avita, Tretinoin
Vesnaroid
Vitamin A acid
Vitinoin
WLN: L6UTJ A1 B1U1Y1 & U2U1Y1 & U1VQ C1 C1
WLN: L6UTJ A1 B1U1Y1&U2U1Y1&U1VQ C1 C1
Zinc Salt, Tretinoin
[3H]Retinoic acid
all trans-Retinoic acid
all-(E)-Retinoic acid
all-(e)-Retinoic acid
all-trans-Retinoic acid
all-trans-Tretinoin
all-trans-Vitamin A acid
all-trans-Vitamin A1 acid
all-trans-Vitamin a acid
all-trans-Vitamin a1 acid
all-trans-b-Retinoic acid
all-trans-beta-Retinoic acid
b-Retinoic acid
beta all trans Retinoic Acid
beta-Ra
beta-Retinoate
beta-Retinoic Acid
beta-Retinoic acid
beta-all-trans-Retinoic acid
bmse000562
nchembio.154-comp2
trans Retinoic Acid
trans-Retinoate
trans-Retinoic acid
tretinoin
tretinoin liposome
tretinoine (French) (EINECS)
2Pharmaceutical SolutionsPhase 4, Phase 2, Phase 17004
3
HyaluronanapprovedPhase 33629067-32-7, 9004-61-953477741, 24759
Synonyms:
Hyaluronate
Hyaluronic acid
Hyaluronic acid sodium salt
Hylartil
Hyruan Plus
Luronit
Macronan
 
Mucoitin
Nutra-HAF
Q 5AQ
Sepracoat
Sepragel Sinus
Sodium hyaluronate
Sofast
Synvisc
4Adjuvants, ImmunologicPhase 31783
5ViscosupplementsPhase 3267
6Protective AgentsPhase 3, Phase 1, Phase 25651
7Immunologic FactorsPhase 3, Phase 218483
8
DopamineapprovedPhase 2308462-31-7, 51-61-6681
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 Hcl
Dopamine 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
9
LevodopaapprovedPhase 236359-92-76047
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
10
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
11
CarbidopaapprovedPhase 215928860-95-934359, 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-hydrazinyl-2-methylpropanoic acid hydrate
(2S)-3-(3,4-Dihydroxyphenyl)-2-hydrazinyl-2-methylpropanoic 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)
(AlphaS)-alpha-hydrazino-3,4-dihydroxy-alpha-methylbenzenepropanoic acid monohydrate
(S)-(-)-Carbidopa hydrate
(S)-(-)-carbidopa
(S)-(-)-carbidopa hydrate
(S)-(−)-carbidopa hydrate
(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
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
Carbidopa (anhydrous)
Carbidopa Anhydrous
Carbidopa Monohydrate
Carbidopa [USAN:INN:BAN]
Carbidopa anhydrous
Carbidopa hydrate
Carbidopa monohydrate
Carbidopa, (S)-Isomer
 
Carbidopa, Entacapone, & Levodopa
Carbidopa-1-wasser
Carbidopum
Carbidopum [INN-Latin]
Carbidopum monohydricum
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-alpha-(3,4-Dihydroxybenzyl)-alpha-hydrazinopropionic acid monohydrate
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
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
carbidopa hydrate
carbidopum monohydricum
12
AcetylcysteineapprovedPhase 1, Phase 2293616-91-112035
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
13
ErythromycinapprovedPhase 1, Phase 292114-07-812560
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
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
E.e.s
E.e.s.
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
Ery-B
Ery-Diolan
Ery-Sol
Ery-Tab
Ery-Tab (base)
Ery-maxin
Ery-ped
Ery-tab
Eryacne
Eryacnen
Erybid
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
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 Base
Erythromycin Base Base
Erythromycin Base Filmtab
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
14
LosartanapprovedPhase 1, Phase 2276114798-26-43961
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
15
PravastatinapprovedPhase 1, Phase 214481093-37-054687
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
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
16
PirfenidoneinvestigationalPhase 24253179-13-840632
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
17Antiparkinson AgentsPhase 21312
18DihydroxyphenylalaninePhase 2123
19Neurotransmitter AgentsPhase 214795
20Dopamine AgentsPhase 23084
21Contraceptives, OralPhase 23734
22Carbidopa, levodopa drug combinationPhase 2104
23Aromatic Amino Acid Decarboxylase InhibitorsPhase 2116
24Anti-Inflammatory Agents, Non-SteroidalPhase 2, Phase 13549
25Analgesics, Non-NarcoticPhase 2, Phase 15184
26Peripheral Nervous System AgentsPhase 2, Phase 118510
27AnalgesicsPhase 2, Phase 19358
28Anti-Inflammatory AgentsPhase 2, Phase 18478
29Antirheumatic AgentsPhase 2, Phase 18496
30Anti-Infective AgentsPhase 1, Phase 217220
31HormonesPhase 1, Phase 211748
32Hormone AntagonistsPhase 1, Phase 210002
33Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 1, Phase 29988
34ExpectorantsPhase 1, Phase 2337
35Gastrointestinal AgentsPhase 1, Phase 26401
36Hypolipidemic AgentsPhase 1, Phase 22228
37Respiratory System AgentsPhase 1, Phase 23931
38Erythromycin stearatePhase 1, Phase 292
39N-monoacetylcystinePhase 1, Phase 2293
40Leukotriene AntagonistsPhase 1, Phase 2270
41Hydroxymethylglutaryl-CoA Reductase InhibitorsPhase 1, Phase 21804
42Anti-Arrhythmia AgentsPhase 1, Phase 22371
43AngiotensinogenPhase 1, Phase 21032
44Anti-Bacterial AgentsPhase 1, Phase 29140
45Erythromycin EthylsuccinatePhase 1, Phase 292
46Angiotensin II Type 1 Receptor BlockersPhase 1, Phase 2949
47
Angiotensin IIPhase 1, Phase 2103368521-88-0, 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
48Anticholesteremic AgentsPhase 1, Phase 21732
49Angiotensin Receptor AntagonistsPhase 1, Phase 21039
50Antihypertensive AgentsPhase 1, Phase 23618

Interventional clinical trials:

(show all 20)
idNameStatusNCT IDPhase
1Punchgrafting Techniques for VitiligoRecruitingNCT01377077Phase 4
2Autologous Cell Suspension Grafting Using ReCell in Vitiligo and Piebaldism PatientsActive, not recruitingNCT01640678Phase 4
3Autologous Cell Suspension Grafting Using ReCell in Vitiligo and Piebaldism PatientsEnrolling by invitationNCT02458417Phase 4
4A Multicenter Trial of Non-cultured Epidermal Cellular Grafting Versus Hyaluronic Acid for Repigmenting Stable Leukoderma (Vitiligo and Piebaldism)RecruitingNCT02156427Phase 3
5Trial of L-DOPA as a Treatment to Improve Vision in AlbinismCompletedNCT01176435Phase 2
6Nitisinone for Type 1B Oculocutaneous AlbinismRecruitingNCT01838655Phase 1, Phase 2
7Vision Response to Dopamine ReplacementRecruitingNCT01663935Phase 2
8Oral Pirfenidone for the Pulmonary Fibrosis of Hermansky-Pudlak SyndromeActive, not recruitingNCT00001596Phase 2
9Pilot Study of a Multi-Drug Regimen for Severe Pulmonary Fibrosis in Hermansky-Pudlak SyndromeTerminatedNCT00467831Phase 1, Phase 2
10Medical Treatment of Colitis in Patients With Hermansky-Pudlak SyndromeWithdrawnNCT00514982Phase 2
11Visual Function and Ocular Pigmentation in AlbinismCompletedNCT00001153
12Clinical, Cellular, and Molecular Investigation Into Oculocutaneous AlbinismRecruitingNCT00808106
13The Effects of Lutein and Zeaxanthin Supplementation on Vision in Patients With AlbinismRecruitingNCT02200263
14Clinical and Basic Investigations Into Hermansky-Pudlak SyndromeRecruitingNCT00001456
15Study of Chediak-Higashi SyndromeRecruitingNCT00005917
16A Longitudinal Study of Hermansky-Pudlak Syndrome Pulmonary FibrosisRecruitingNCT02368340
17Clinical and Basic Investigations Into Erdheim Chester DiseaseRecruitingNCT01417520
18Screening Protocol for Genetic Diseases of Mast Cell Homeostasis and ActivationRecruitingNCT00852943
19Efficacy and Safety Evaluation of HCPA-1 Silicone Stent in the Treatment of Central Airway ObstructionsRecruitingNCT01389531
20Safety and Efficacy of Primaquine for P. VivaxNot yet recruitingNCT01837992

Search NIH Clinical Center for Albinism

Genetic Tests for Albinism

About this section

Genetic tests related to Albinism:

id Genetic test Affiliating Genes
1 Albinism22

Anatomical Context for Albinism

About this section

MalaCards organs/tissues related to Albinism:

33
Skin, Eye, Heart, Pituitary, T cells, Prostate, Brain

Animal Models for Albinism or affiliated genes

About this section

MGI Mouse Phenotypes related to Albinism:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.2HPS1, OCA2, SLC24A5, TYRP1
2MP:00053778.2HPS1, OCA2, SLC24A5, TYRP1
3MP:00053867.8C10orf11, OCA2, SLC24A5, SLC45A2, TYR, TYRP1
4MP:00107717.7HPS1, OCA2, SLC24A5, SLC45A2, TYR, TYRP1
5MP:00011867.3GPR143, HPS1, OCA2, SLC24A5, SLC45A2, TYR
6MP:00053917.3GPR143, HPS1, OCA2, SLC24A5, SLC45A2, TYR
7MP:00053787.1HPS1, OCA2, SLC24A5, SLC45A2, TYR, TYRP1
8MP:00053766.8C10orf11, HPS1, OCA2, SLC24A5, SLC45A2, TYR

Publications for Albinism

About this section

Articles related to Albinism:

(show top 50)    (show all 774)
idTitleAuthorsYear
1
Hermansky-Pudlak syndrome genes are frequently mutated in patients with albinism from the Arabian Peninsula. (26785811)
2016
2
The portrayal of albinism in pop culture: a 360A^ change from previous ideology. (25760824)
2015
3
Psychiatric Morbidity among Subjects with Leprosy and Albinism in South East Nigeria: A Comparative Study. (26097762)
2015
4
Oculocutaneous albinism in a patient with 17p13.2-pter duplication - a review on the molecular syndromology of 17p13 duplication. (25690523)
2015
5
Authors' response: evaluation of choroidal thickness among patients with oculocutaneous albinism. (24876456)
2014
6
Albinism in barley androgenesis. (24326697)
2013
7
Skin flora: Differences between people affected by Albinism and those with normally pigmented skin in Northern Tanzania - cross sectional study. (22846672)
2012
8
Albinism and disease causing pathogens in Tanzania: are alleles that are associated with OCA2 being maintained by balancing selection? (23063908)
2012
9
Syndromic albinism and haemophagocytosis. (19764984)
2010
10
A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism. (19865097)
2010
11
Evaluation of vision-specific quality-of-life in albinism. (19157938)
2009
12
Albinism: Images in ophthalmology. (21234225)
2009
13
Mutation analysis in a family with oculocutaneous albinism manifesting in the same generation of three branches. (17960121)
2007
14
Albinism in Africa as a public health issue. (16916463)
2006
15
Duane retraction syndrome associated with oculocutaneous albinism: an ocular miswiring. (17090889)
2006
16
Identification of novel TYR and TYRP1 mutations in oculocutaneous albinism. (15996218)
2005
17
Albinism (OCA2) in Amerindians. (16369963)
2005
18
New method for detecting misrouted retinofugal fibers in humans with albinism by magnetoencephalography. (15031097)
2004
19
Positive angle kappa: a sign of albinism in patients with congenital nystagmus. (15059699)
2004
20
Tyrosinase processing and intracellular trafficking is disrupted in mouse primary melanocytes carrying the underwhite (uw) mutation. A model for oculocutaneous albinism (OCA) type 4. (12829739)
2003
21
Amelanotic melanoma in a child with oculocutaneous albinism. (12825234)
2003
22
The molecular basis of oculocutaneous albinism type 1 (OCA1): sorting failure and degradation of mutant tyrosinases results in a lack of pigmentation. (11284711)
2001
23
Albinism and phenotype of barn swallows (Hirundo rustica) from Chernobyl. (11761068)
2001
24
Ocular albinism type 1: more than meets the eye. (11549106)
2001
25
Mutation analysis of the tyrosinase gene in oculocutaneous albinism. (11295837)
2001
26
Oculocutaneous albinism type 2 with a P gene missense mutation in a patient with Angelman syndrome. (10905897)
2000
27
Electron microscopic DOPA reaction test for oculocutaneous albinism. (10929771)
2000
28
Oculocutaneous albinism in the i6 mutant of the medaka fish is associated with a deletion in the tyrosinase gene. (10454293)
1999
29
Unilateral alpha reactivity: an electroencephalographic finding in albinism. (9563581)
1998
30
Mutations of the human P gene associated with type II oculocutaneous albinism (OCA2). (10671067)
1998
31
Diagnosis of oculocutaneous albinism with molecular analysis. (8644824)
1996
32
Autosomal-recessive neural crest syndrome with albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness: ABCD syndrome. (7778600)
1995
33
An intragenic deletion of the P gene is the common mutation causing tyrosinase-positive oculocutaneous albinism in southern African Negroids. (7887411)
1995
34
Visual and Auditory Anomalies Associated with Albinism (26131546)
1995
35
Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome. (7647783)
1995
36
African origin of an intragenic deletion of the human P gene in tyrosinase positive oculocutaneous albinism. (7920637)
1994
37
The molecular genetics of albinism and piebaldism. (8129415)
1994
38
Ophthalmic features of minimal pigment oculocutaneous albinism. (8190479)
1994
39
Do pigmented naevi in albinism provide evidence of tyrosinase positivity? (1476926)
1992
40
Homozygous tyrosinase gene mutation in an American black with tyrosinase-negative (type IA) oculocutaneous albinism. (1899321)
1991
41
Comparative genetics of albinism. (2126367)
1990
42
Isolation and purification of ceruloplasmin in oculocutaneous albinism, Menkes' disease, Wilson's disease and pregnant women. (6616879)
1983
43
Ophthalmic manifestations of the Hermansky-Pudlak syndrome (oculocutaneous albinism and hemorrhagic diathesis). (7065089)
1982
44
X-linked ocular albinism: relative value of skin biopsy, iris transillumination and funduscopy in identifying affected males and carriers. (7296358)
1981
45
Amish albinism: a distinctive autosomal recessive phenotype. (5516239)
1970
46
TOTAL COLOR BLINDNESS AND ALBINISM. TWO CAUSES OF SUBNORMAL VISUAL ACUITY IN CHILDREN. (14256521)
1965
47
Ocular albinism with changes typical of carriers. (13396158)
1956
48
49
50

Variations for Albinism

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Expression for genes affiliated with Albinism

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Search GEO for disease gene expression data for Albinism.

Pathways for genes affiliated with Albinism

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Pathways related to Albinism according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.6TYR, TYRP1

GO Terms for genes affiliated with Albinism

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

idNameGO IDScoreTop Affiliating Genes
1melanosomeGO:00424709.6GPR143, SLC24A5

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

idNameGO IDScoreTop Affiliating Genes
1melanin biosynthetic processGO:00424389.7OCA2, TYR
2melanosome organizationGO:00324389.3GPR143, TYRP1

Sources for Albinism

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet