MCID: ALB021
MIFTS: 46

Albinism, Oculocutaneous, Type Ii malady

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

Aliases & Classifications for Albinism, Oculocutaneous, Type Ii

About this section
Sources:
12diseasecard, 23GeneReviews, 24GeneTests, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 48NIH Rare Diseases, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Albinism, Oculocutaneous, Type Ii:

Name: Albinism, Oculocutaneous, Type Ii 52
Oculocutaneous Albinism Type 2 23 48 24 54 68
Oca2 23 48 24 54 70
Albinism, Oculocutaneous, Type Ii, Modifier of 52 24
Oculocutaneous Albinism Tyrosinase-Positive 70 27
Albinism, Brown Oculocutaneous 52 12
Brown Oculocutaneous Albinism 70 68
Albinoidism 48 68
Oculocutaneous Albinism Tyrosinase Positive 48
 
Tyrosinase-Positive Oculocutaneous Albinism 48
Oculocutaneous Albinism Type 2, Modifier 24
Albinism, Oculocutaneous, Type 2 48
Oculocutaneous Albinism Type Ii 70
Albinism, Oculocutaneous, 2 70
Albinism Ii 70
Albinism 2 48
Oca-2 70
Boca 70

Characteristics:

Orphanet epidemiological data:

54
oculocutaneous albinism type 2:
Inheritance: Autosomal recessive; Prevalence: 1-5/10000,1-9/100000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy

HPO:

64
albinism, oculocutaneous, type ii:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 203200
Orphanet54 ORPHA79432
ICD10 via Orphanet31 E70.3
UMLS via Orphanet69 C0268495
MESH via Orphanet40 C537730
MeSH39 D016115

Summaries for Albinism, Oculocutaneous, Type Ii

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OMIM:52 Tyrosinase-positive oculocutaneous albinism (OCA, type II) is an autosomal recessive disorder in which the biosynthesis... (203200) more...

MalaCards based summary: Albinism, Oculocutaneous, Type Ii, also known as oculocutaneous albinism type 2, is related to brachymetapody-anodontia-hypotrichosis-albinoidism and cole disease, and has symptoms including ocular albinism, visual impairment and photophobia. An important gene associated with Albinism, Oculocutaneous, Type Ii is OCA2 (OCA2 Melanosomal Transmembrane Protein), and among its related pathways Affiliated tissues include skin, eye and retina, and related mouse phenotypes are craniofacial and hearing/vestibular/ear.

UniProtKB/Swiss-Prot:70 Albinism, oculocutaneous, 2: An autosomal recessive disorder in which the biosynthesis of melanin pigment is reduced in skin, hair, and eyes. Although affected infants may appear at birth to have complete absence of melanin pigment, most patients acquire small amounts of pigment with age. Visual anomalies include decreased acuity and nystagmus. The phenotype is highly variable. The hair of affected individuals may turn darker with age, and pigmented nevi or freckles may be seen. African and African American individuals may have yellow hair and blue-gray or hazel irides. One phenotypic variant, 'brown OCA,' has been described in African and African American populations and is characterized by light brown hair and skin color and gray to tan irides.

NIH Rare Diseases:48 Oculocutaneous albinism type 2 is a genetic condition that affects the 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. This condition 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; nystagmus and strabismus; and increased sensitivity to light (photophobia). This condition is caused by mutations in the OCA2 gene and is inherited in an autosomal recessive fashion. Last updated: 9/19/2011

GeneReviews for NBK1232

Related Diseases for Albinism, Oculocutaneous, Type Ii

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Graphical network of diseases related to Albinism, Oculocutaneous, Type Ii:



Diseases related to albinism, oculocutaneous, type ii

Symptoms & Phenotypes for Albinism, Oculocutaneous, Type Ii

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Symptoms by clinical synopsis from OMIM:

203200

Clinical features from OMIM:

203200

Human phenotypes related to Albinism, Oculocutaneous, Type Ii:

 64 54 (show all 22)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ocular albinism64 hallmark (90%) HP:0001107
2 visual impairment64 54 typical (50%) Frequent (79-30%) HP:0000505
3 photophobia64 54 typical (50%) Frequent (79-30%) HP:0000613
4 nystagmus64 54 typical (50%) Frequent (79-30%) HP:0000639
5 optic atrophy64 typical (50%) HP:0000648
6 freckling64 54 typical (50%) Frequent (79-30%) HP:0001480
7 strabismus64 54 occasional (7.5%) Frequent (79-30%) HP:0000486
8 melanoma64 54 occasional (7.5%) Occasional (29-5%) HP:0002861
9 neoplasm of the skin64 occasional (7.5%) HP:0008069
10 blue irides64 HP:0000635
11 albinism64 54 Frequent (79-30%) HP:0001022
12 red hair64 HP:0002297
13 freckles in sun-exposed areas64 HP:0007603
14 reduced visual acuity64 HP:0007663
15 hypoplasia of the fovea64 HP:0007750
16 hypopigmentation of the fundus64 HP:0007894
17 abnormality of the optic nerve54 Frequent (79-30%)
18 hypopigmentation of the skin54 Frequent (79-30%)
19 basal cell carcinoma54 Occasional (29-5%)
20 hypopigmentation of hair54 Frequent (79-30%)
21 squamous cell carcinoma of the skin54 Occasional (29-5%)
22 iris hypopigmentation54 Very frequent (99-80%)

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

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.3MC1R, OCA2, TYRP1
2MP:00053779.3MC1R, OCA2, TYRP1
3MP:00107719.2MC1R, OCA2, TYRP1
4MP:00011868.5MC1R, OCA2, TYRP1

Drugs & Therapeutics for Albinism, Oculocutaneous, Type Ii

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

(show all 40)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
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
2
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
3
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
4
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
5Hydroxymethylglutaryl-CoA Reductase InhibitorsPhase 1, Phase 21956
6Hypolipidemic AgentsPhase 1, Phase 22721
7Leukotriene AntagonistsPhase 1, Phase 2291
8Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 1, Phase 212767
9HormonesPhase 1, Phase 213979
10ExpectorantsPhase 1, Phase 2388
11Gastrointestinal AgentsPhase 1, Phase 28109
12Hormone AntagonistsPhase 1, Phase 212778
13Lipid Regulating AgentsPhase 1, Phase 22702
14Lipoxygenase InhibitorsPhase 1, Phase 277
15AnalgesicsPhase 1, Phase 211287
16Protective AgentsPhase 1, Phase 27190
17Respiratory System AgentsPhase 1, Phase 24818
18Pharmaceutical SolutionsPhase 1, Phase 27793
19Peripheral Nervous System AgentsPhase 1, Phase 222776
20Analgesics, Non-NarcoticPhase 1, Phase 26260
21N-monoacetylcystinePhase 1, Phase 2316
22Erythromycin stearatePhase 1, Phase 295
23Erythromycin EthylsuccinatePhase 1, Phase 295
24Anticholesteremic AgentsPhase 1, Phase 21983
25AntidotesPhase 1, Phase 21038
26Antihypertensive AgentsPhase 1, Phase 24095
27Anti-Bacterial AgentsPhase 1, Phase 210884
28Anti-Arrhythmia AgentsPhase 1, Phase 22969
29Angiotensin Receptor AntagonistsPhase 1, Phase 21173
30AngiotensinogenPhase 1, Phase 21161
31Anti-Infective AgentsPhase 1, Phase 221402
32Anti-Inflammatory AgentsPhase 1, Phase 210355
33Antiviral AgentsPhase 1, Phase 29732
34
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
35Erythromycin EstolatePhase 1, Phase 295
36Antirheumatic AgentsPhase 1, Phase 210627
37AntioxidantsPhase 1, Phase 22928
38Anti-Inflammatory Agents, Non-SteroidalPhase 1, Phase 24295
39AntimetabolitesPhase 1, Phase 211774
40Angiotensin II Type 1 Receptor BlockersPhase 1, Phase 21078

Interventional clinical trials:

idNameStatusNCT IDPhase
1Pilot Study of a Multi-Drug Regimen for Severe Pulmonary Fibrosis in Hermansky-Pudlak SyndromeTerminatedNCT00467831Phase 1, Phase 2

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Genetic Tests for Albinism, Oculocutaneous, Type Ii

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Genetic tests related to Albinism, Oculocutaneous, Type Ii:

id Genetic test Affiliating Genes
1 Tyrosinase-Positive Oculocutaneous Albinism27
2 Oculocutaneous Albinism Type 224 OCA2
3 Oculocutaneous Albinism Type 2, Modifier24 MC1R

Anatomical Context for Albinism, Oculocutaneous, Type Ii

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MalaCards organs/tissues related to Albinism, Oculocutaneous, Type Ii:

36
Skin, Eye, Retina

Publications for Albinism, Oculocutaneous, Type Ii

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Variations for Albinism, Oculocutaneous, Type Ii

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UniProtKB/Swiss-Prot genetic disease variations for Albinism, Oculocutaneous, Type Ii:

70 (show all 39)
id Symbol AA change Variation ID SNP ID
1OCA2p.Gly27ArgVAR_006117rs61738394
2OCA2p.Ser86ArgVAR_006118rs772243109
3OCA2p.Cys112PheVAR_006119rs562649990
4OCA2p.Ala368ValVAR_006124rs61745150
5OCA2p.Phe385IleVAR_006125rs137956605
6OCA2p.Met395LeuVAR_006126rs757286784
7OCA2p.Thr404MetVAR_006127rs144812594
8OCA2p.Arg419TrpVAR_006129rs143218168
9OCA2p.Val443IleVAR_006132rs28934272
10OCA2p.Met446ValVAR_006133rs140566426
11OCA2p.Ile473SerVAR_006134
12OCA2p.Asn489AspVAR_006135rs121918170
13OCA2p.His549GlnVAR_006136
14OCA2p.Thr592IleVAR_006137rs1800413
15OCA2p.Lys614AsnVAR_006138
16OCA2p.Trp652ArgVAR_006140
17OCA2p.Trp679ArgVAR_006141rs751822606
18OCA2p.Ala724ProVAR_006143
19OCA2p.Ser736LeuVAR_006144rs780296175
20OCA2p.Pro743LeuVAR_006145rs121918167
21OCA2p.Ala787ValVAR_006146rs200457227
22OCA2p.Ala481ThrVAR_007940rs74653330
23OCA2p.Arg10TrpVAR_020622rs554862186
24OCA2p.Pro198LeuVAR_020623rs183487020
25OCA2p.Pro211LeuVAR_020624rs190612616
26OCA2p.Arg290GlyVAR_020625rs769408559
27OCA2p.Ala334ValVAR_020626rs121918168
28OCA2p.Met394IleVAR_020630rs121918171
29OCA2p.Lys614GluVAR_020631
30OCA2p.Ile617LeuVAR_020632rs763016773
31OCA2p.Trp679CysVAR_020634rs121918169
32OCA2p.Arg720CysVAR_020636rs141545475
33OCA2p.Gly795ArgVAR_020637
34OCA2p.Gln799HisVAR_020638
35OCA2p.Asn476AspVAR_043700
36OCA2p.Gly775ArgVAR_043701
37OCA2p.Tyr827HisVAR_043702
38OCA2p.Val633IleVAR_072600
39OCA2p.Phe684CysVAR_072601rs772754008

Clinvar genetic disease variations for Albinism, Oculocutaneous, Type Ii:

5 (show all 26)
id Gene Variation Type Significance SNP ID Assembly Location
1TYRP1NM_000550.2(TYRP1): c.497C> G (p.Ser166Ter)SNVPathogenic, risk factorrs104894130GRCh37Chr 9, 12695626: 12695626
2OCA2NM_000275.2(OCA2): c.2207C> T (p.Ser736Leu)SNVLikely pathogenicrs780296175GRCh37Chr 15, 28116337: 28116337
3OCA2NM_000275.2(OCA2): c.867delC (p.Ser289Argfs)deletionPathogenicrs794727898GRCh37Chr 15, 28261273: 28261273
4OCA2NM_000275.2(OCA2): c.819_822delCTGGinsGGTC (p.Asn273_Trp274delinsLysVal)indelPathogenicrs797044784GRCh37Chr 15, 28261318: 28261321
5OCA2NM_000275.2(OCA2): c.1969G> C (p.Gly657Arg)SNVLikely pathogenicrs879253729GRCh38Chr 15, 27926237: 27926237
6OCA2NM_000275.2(OCA2): c.1044+1G> TSNVPathogenicrs185504549GRCh38Chr 15, 28014775: 28014775
7OCA2NM_000275.2(OCA2): c.1211C> T (p.Thr404Met)SNVLikely pathogenicrs144812594GRCh38Chr 15, 27986615: 27986615
8OCA2NM_000275.2(OCA2): c.1427A> G (p.Asn476Ser)SNVPathogenicrs763819379GRCh38Chr 15, 27983421: 27983421
9OCA2NM_000275.2(OCA2): c.1503+5G> ASNVPathogenicrs368124046GRCh38Chr 15, 27983340: 27983340
10OCA2NM_000275.2(OCA2): c.2012A> T (p.Glu671Val)SNVLikely pathogenicrs797045838GRCh37Chr 15, 28171340: 28171340
11OCA2NM_000275.2(OCA2): c.2344G> A (p.Gly782Arg)SNVLikely pathogenicrs797045839GRCh38Chr 15, 27845047: 27845047
12OCA2NM_000275.2(OCA2): c.647-?_807+?deldeletionPathogenicChr na, -1: -1
13OCA2NM_000275.2(OCA2): c.647-?_890+?deldeletionPathogenicChr na, -1: -1
14OCA2NC_000015.10deletionPathogenicGRCh38Chr 15, 27926498: 28073963
15OCA2NC_000015.10: g.27874792_28058639deldeletionPathogenicGRCh38Chr 15, 27874792: 28058639
16OCA2NM_000275.2(OCA2): c.647_807del161 (p.Ser216Cysfs)deletionPathogenicChr na, -1: -1
17OCA2NM_000275.2(OCA2): c.1842+1G> TSNVPathogenicrs387906240GRCh37Chr 15, 28200303: 28200303
18OCA2NM_000275.2(OCA2): c.1441G> A (p.Ala481Thr)SNVPathogenicrs74653330GRCh37Chr 15, 28228553: 28228553
19OCA2NM_000275.2(OCA2): c.1327G> A (p.Val443Ile)SNVPathogenicrs121918166GRCh37Chr 15, 28230247: 28230247
20OCA2NM_000275.2(OCA2): c.2228C> T (p.Pro743Leu)SNVPathogenicrs121918167GRCh37Chr 15, 28116316: 28116316
21OCA2NM_000275.2(OCA2): c.1960delG (p.Ala654Leufs)deletionPathogenicrs387906241GRCh37Chr 15, 28171392: 28171392
22OCA2NM_000275.2(OCA2): c.1001C> T (p.Ala334Val)SNVPathogenicrs121918168GRCh37Chr 15, 28259965: 28259965
23OCA2NG_009846.1: g.103171_225796deldeletionPathogenicGRCh37Chr 15, 28123663: 28246288
24OCA2NM_000275.2(OCA2): c.2037G> C (p.Trp679Cys)SNVPathogenicrs121918169GRCh37Chr 15, 28171315: 28171315
25OCA2NM_000275.2(OCA2): c.1465A> G (p.Asn489Asp)SNVPathogenicrs121918170GRCh37Chr 15, 28228529: 28228529
26OCA2NM_000275.2(OCA2): c.1182G> A (p.Met394Ile)SNVPathogenicrs121918171GRCh37Chr 15, 28234747: 28234747

Expression for genes affiliated with Albinism, Oculocutaneous, Type Ii

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Search GEO for disease gene expression data for Albinism, Oculocutaneous, Type Ii.

Pathways for genes affiliated with Albinism, Oculocutaneous, Type Ii

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Pathways related to Albinism, Oculocutaneous, Type Ii according to GeneCards Suite gene sharing:

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idSuper pathwaysTop Affiliating Genes

GO Terms for genes affiliated with Albinism, Oculocutaneous, Type Ii

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

idNameGO IDScoreTop Affiliating Genes
1endosome membraneGO:00100089.6OCA2, TYRP1
2melanosome membraneGO:00331629.3OCA2, TYRP1

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

idNameGO IDScoreTop Affiliating Genes
1melanocyte differentiationGO:00303189.7OCA2, TYRP1
2melanin biosynthetic processGO:00424389.0MC1R, OCA2, TYRP1
3pigmentationGO:00434738.5MC1R, OCA2, TYRP1

Sources for Albinism, Oculocutaneous, Type Ii

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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