MCID: ALB021
MIFTS: 44

Albinism, Oculocutaneous, Type Ii malady

Genetic diseases, Rare diseases, Eye diseases, Skin diseases, Metabolic diseases categories

Aliases & Classifications for Albinism, Oculocutaneous, Type Ii

About this section
Sources:
49OMIM, 11diseasecard, 22GeneTests, 21GeneReviews, 45NIH Rare Diseases, 51Orphanet, 65UMLS, 67UniProtKB/Swiss-Prot, 24GTR, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH
See all sources

Aliases & Descriptions for Albinism, Oculocutaneous, Type Ii:

Name: Albinism, Oculocutaneous, Type Ii 49
Oca2 21 45 22 51 67
Oculocutaneous Albinism Type 2 21 45 51 65
Albinism, Oculocutaneous, Type Ii, Modifier of 49 22
Tyrosinase-Positive Oculocutaneous Albinism 45 24
Albinism, Oculocutaneous, Type 2 45 22
Albinism, Brown Oculocutaneous 49 11
Albinoidism 45 65
Oculocutaneous Albinism Tyrosinase Positive 45
 
Oculocutaneous Albinism Tyrosinase-Positive 67
Oculocutaneous Albinism Type Ii 67
Brown Oculocutaneous Albinism 67
Albinism, Oculocutaneous, 2 67
Albinism Ii 67
Albinism 2 45
Oca-2 67
Boca 67


Classifications:



Characteristics (Orphanet epidemiological data):

51
oca2:
Inheritance: Autosomal recessive; Prevalence: 1-5/10000,1-9/100000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy


External Ids:

OMIM49 203200
Orphanet51 79432
ICD10 via Orphanet28 E70.3
MESH via Orphanet37 C537730
UMLS via Orphanet66 C0268495
MeSH36 D016115

Summaries for Albinism, Oculocutaneous, Type Ii

About this section
OMIM:49 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 oca2, is related to oculocutaneous albinism and brachymetapody anodontia hypotrichosis albinoidism, and has symptoms including ocular albinism, visual impairment and photophobia. An important gene associated with Albinism, Oculocutaneous, Type Ii is OCA2 (Oculocutaneous Albinism II). Affiliated tissues include skin, eye and retina.

NIH Rare Diseases:45 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

UniProtKB/Swiss-Prot:67 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.

GeneReviews summary for oca2

Related Diseases for Albinism, Oculocutaneous, Type Ii

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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 Albinism, Oculocutaneous, Type Ii via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 35)
idRelated DiseaseScoreTop Affiliating Genes
1oculocutaneous albinism10.9
2brachymetapody anodontia hypotrichosis albinoidism10.4
3melanoma10.4
4albinism10.4
5angelman syndrome10.3
6sickle cell disease10.3
7albinism, oculocutaneous, type ia10.2
8piebaldism10.1
9hypomelanotic disorder10.1
10oculoosteocutaneous syndrome10.1
11breast cancer10.1
12cervical squamous cell carcinoma10.1
13estrogen-receptor negative breast cancer10.1
14congenital nystagmus10.1
15hepatitis c virus10.0
16galactosemia10.0
17hepatitis10.0
18hepatitis b10.0
19liver disease10.0
20neuroretinitis10.0
21hepatitis c10.0
22hepatitis a10.0
23hepatitis d10.0
24viral hepatitis10.0
25viral infectious disease10.0
26hepadnavirus infection10.0
27herpes simiae10.0
28herpesvirus simiae b virus10.0
29hepatitis b reinfection following liver transplantation10.0
30acute cystitis10.0MC1R, OCA2
31immature cataract10.0MC1R, OCA2
32roifman-chitayat syndrome10.0MC1R, OCA2
33atrophic nonflaccid tympanic membrane9.9MC1R, OCA2
34primary cutaneous amyloidosis9.8MC1R, OCA2
35prostate cancer, hereditary, 79.2HCL3, HERC2, MC1R, MESDC2, OCA2

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



Diseases related to albinism, oculocutaneous, type ii

Symptoms for Albinism, Oculocutaneous, Type Ii

About this section

Symptoms by clinical synopsis from OMIM:

203200

Clinical features from OMIM:

203200

Symptoms:

 51 (show all 12)
  • iris albinism/ocular albinism
  • autosomal recessive inheritance
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • mild visual loss/impaired visual acuity
  • photophobia
  • nystagmus
  • abnormal pigmentary skin changes/skin pigmentation anomalies
  • excessive freckling
  • decreased hair pigmentation/hypopigmentation of hair
  • strabismus/squint
  • melanoma
  • skin/cutaneous neoplasm/tumor/carcinoma/cancer (excluding melanoma)

HPO human phenotypes related to Albinism, Oculocutaneous, Type Ii:

(show all 20)
id Description Frequency HPO Source Accession
1 ocular albinism hallmark (90%) HP:0001107
2 visual impairment typical (50%) HP:0000505
3 photophobia typical (50%) HP:0000613
4 nystagmus typical (50%) HP:0000639
5 optic atrophy typical (50%) HP:0000648
6 freckling typical (50%) HP:0001480
7 strabismus occasional (7.5%) HP:0000486
8 melanoma occasional (7.5%) HP:0002861
9 neoplasm of the skin occasional (7.5%) HP:0008069
10 autosomal recessive inheritance HP:0000007
11 strabismus HP:0000486
12 visual impairment HP:0000505
13 blue irides HP:0000635
14 nystagmus HP:0000639
15 albinism HP:0001022
16 red hair HP:0002297
17 freckles in sun-exposed areas HP:0007603
18 reduced visual acuity HP:0007663
19 hypoplasia of the fovea HP:0007750
20 hypopigmentation of the fundus HP:0007894

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 11)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
ErythromycinapprovedPhase 1, Phase 285114-07-812560
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
2
AcetylcysteineapprovedPhase 1, Phase 2280616-91-112035
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
Acetadote
Acetilcisteina
Acetylcysteine
Acetylcysteinum
Fluimicil Infantil
Fluimucetin
 
Flumucetin
Fluprowit
L-Acetylcysteine
L-alpha-acetamido-beta-Mercaptopropionic acid
Mercapturic acid
N-ACETYL-L-cysteine
N-Acety-L-Cysteine
N-Acetyl-3-mercaptoalanine
N-Acetyl-L-(+)-cysteine
N-Acetylcysteine
N-acetylcysteine
Sodium 2-acetamido-3-mercaptopropionate
3
PravastatinapprovedPhase 1, Phase 214281093-37-054687
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
4
LosartanapprovedPhase 1, Phase 2265114798-26-43961
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
5N-monoacetylcystinePhase 1, Phase 2280
6ExpectorantsPhase 1, Phase 2320
7Erythromycin EthylsuccinatePhase 1, Phase 285
8
Angiotensin IIPhase 1, Phase 298568521-88-0, 11128-99-7172198
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
9Angiotensin II Type 1 Receptor BlockersPhase 1, Phase 2928
10Erythromycin EstolatePhase 1, Phase 285
11Erythromycin stearatePhase 1, Phase 285

Interventional clinical trials:

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

Search NIH Clinical Center for Albinism, Oculocutaneous, Type Ii

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 Oculocutaneous Albinism Type 222 OCA2
2 Oculocutaneous Albinism Type 2, Modifier22 MC1R
3 Tyrosinase-Positive Oculocutaneous Albinism24

Anatomical Context for Albinism, Oculocutaneous, Type Ii

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

33
Skin, Eye, Retina

Animal Models for Albinism, Oculocutaneous, Type Ii or affiliated genes

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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:

67 (show all 39)
id Symbol AA change Variation ID SNP ID
1OCA2p.Gly27ArgVAR_006117rs61738394
2OCA2p.Ser86ArgVAR_006118
3OCA2p.Cys112PheVAR_006119
4OCA2p.Ala368ValVAR_006124rs61745150
5OCA2p.Phe385IleVAR_006125rs137956605
6OCA2p.Met395LeuVAR_006126
7OCA2p.Thr404MetVAR_006127rs144812594
8OCA2p.Arg419TrpVAR_006129rs143218168
9OCA2p.Val443IleVAR_006132rs28934272
10OCA2p.Met446ValVAR_006133
11OCA2p.Ile473SerVAR_006134
12OCA2p.Asn489AspVAR_006135
13OCA2p.His549GlnVAR_006136
14OCA2p.Thr592IleVAR_006137rs1800413
15OCA2p.Lys614AsnVAR_006138
16OCA2p.Trp652ArgVAR_006140
17OCA2p.Trp679ArgVAR_006141
18OCA2p.Ala724ProVAR_006143
19OCA2p.Ser736LeuVAR_006144
20OCA2p.Pro743LeuVAR_006145
21OCA2p.Ala787ValVAR_006146
22OCA2p.Ala481ThrVAR_007940rs74653330
23OCA2p.Arg10TrpVAR_020622
24OCA2p.Pro198LeuVAR_020623rs183487020
25OCA2p.Pro211LeuVAR_020624
26OCA2p.Arg290GlyVAR_020625
27OCA2p.Ala334ValVAR_020626
28OCA2p.Met394IleVAR_020630
29OCA2p.Lys614GluVAR_020631
30OCA2p.Ile617LeuVAR_020632
31OCA2p.Trp679CysVAR_020634
32OCA2p.Arg720CysVAR_020636
33OCA2p.Gly795ArgVAR_020637
34OCA2p.Gln799HisVAR_020638
35OCA2p.Asn476AspVAR_043700
36OCA2p.Gly775ArgVAR_043701
37OCA2p.Tyr827HisVAR_043702
38OCA2p.Val633IleVAR_072600
39OCA2p.Phe684CysVAR_072601

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

5 (show all 22)
id Gene Variation Type Significance SNP ID Assembly Location
1OCA2NM_000275.2(OCA2): c.2207C> T (p.Ser736Leu)single nucleotide variantLikely pathogenicrs780296175GRCh37Chr 15, 28116337: 28116337
2OCA2NM_000275.2(OCA2): c.867delC (p.Ser289Argfs)deletionPathogenicrs794727898GRCh37Chr 15, 28261273: 28261273
3OCA2NM_000275.2(OCA2): c.819_822delCTGGinsGGTC (p.Asn273_Trp274delinsLysVal)indelPathogenicrs797044784GRCh38Chr 15, 28016172: 28016175
4OCA2NM_000275.2(OCA2): c.1211C> T (p.Thr404Met)single nucleotide variantLikely pathogenicrs144812594GRCh38Chr 15, 27986615: 27986615
5OCA2NM_000275.2(OCA2): c.1427A> G (p.Asn476Ser)single nucleotide variantPathogenicrs763819379GRCh37Chr 15, 28228567: 28228567
6OCA2NM_000275.2(OCA2): c.1503+5G> Asingle nucleotide variantPathogenicrs368124046GRCh38Chr 15, 27983340: 27983340
7OCA2NM_000275.2(OCA2): c.2012A> T (p.Glu671Val)single nucleotide variantLikely pathogenicrs797045838GRCh38Chr 15, 27926194: 27926194
8OCA2NM_000275.2(OCA2): c.2344G> A (p.Gly782Arg)single nucleotide variantLikely pathogenicrs797045839GRCh38Chr 15, 27845047: 27845047
9OCA2NM_000275.2(OCA2): c.647-?_807+?deldeletionPathogenic
10OCA2NM_000275.2(OCA2): c.647-?_890+?deldeletionPathogenic
11OCA2NC_000015.10: g.27874792_28058639deldeletionPathogenicGRCh38Chr 15, 27874792: 28058639
12OCA2NM_000275.2(OCA2): c.647_807del161 (p.Ser216Cysfs)deletionPathogenicGRCh38Chr 15, 28018397: 28018557
13OCA2NM_000275.2(OCA2): c.1842+1G> Tsingle nucleotide variantPathogenicrs387906240GRCh37Chr 15, 28200303: 28200303
14OCA2NM_000275.2(OCA2): c.1441G> A (p.Ala481Thr)single nucleotide variantPathogenicrs74653330GRCh37Chr 15, 28228553: 28228553
15OCA2NM_000275.2(OCA2): c.1327G> A (p.Val443Ile)single nucleotide variantPathogenicrs121918166GRCh37Chr 15, 28230247: 28230247
16OCA2NM_000275.2(OCA2): c.2228C> T (p.Pro743Leu)single nucleotide variantPathogenicrs121918167GRCh37Chr 15, 28116316: 28116316
17OCA2NM_000275.2(OCA2): c.1960delG (p.Ala654Leufs)deletionPathogenicrs387906241GRCh37Chr 15, 28171392: 28171392
18OCA2NM_000275.2(OCA2): c.1001C> T (p.Ala334Val)single nucleotide variantPathogenicrs121918168GRCh37Chr 15, 28259965: 28259965
19OCA2NG_009846.1: g.103171_225796deldeletionPathogenicGRCh37Chr 15, 28123663: 28246288
20OCA2NM_000275.2(OCA2): c.2037G> C (p.Trp679Cys)single nucleotide variantPathogenicrs121918169GRCh37Chr 15, 28171315: 28171315
21OCA2NM_000275.2(OCA2): c.1465A> G (p.Asn489Asp)single nucleotide variantPathogenicrs121918170GRCh37Chr 15, 28228529: 28228529
22OCA2NM_000275.2(OCA2): c.1182G> A (p.Met394Ile)single nucleotide variantPathogenicrs121918171GRCh37Chr 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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GO Terms for genes affiliated with Albinism, Oculocutaneous, Type Ii

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

idNameGO IDScoreTop Affiliating Genes
1melanin biosynthetic processGO:00424389.5MC1R, OCA2
2pigmentationGO:00434739.2MC1R, OCA2

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

idNameGO IDScoreTop Affiliating Genes
1ubiquitin protein ligase bindingGO:00316259.3HERC2, MC1R

Sources for Albinism, Oculocutaneous, Type Ii

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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