OCA1B
MCID: ALB010
MIFTS: 49

Albinism, Oculocutaneous, Type Ib (OCA1B)

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

Aliases & Classifications for Albinism, Oculocutaneous, Type Ib

MalaCards integrated aliases for Albinism, Oculocutaneous, Type Ib:

Name: Albinism, Oculocutaneous, Type Ib 57 13 40 73
Oca1b 57 12 53 59 75 55
Oculocutaneous Albinism Type 1b 53 59 29 6
Oculocutaneous Albinism Type Ib 12 75 15
Albinism, Yellow Mutant Type 57 12 53
Yellow Albinism 57 53 75
Albinism, Oculocutaneous, Type I, Temperature-Sensitive 73
Oculocutaneous Albinism Type 1, Temperature Sensitive 6
Temperature-Sensitive Oculocutaneous Albinism Type 1 59
Oculocutaneous Albinism Type I Temperature-Sensitive 75
Minimal Pigment Oculocutaneous Albinism 73
Oculocutaneous Albinism, Amish Type 59
Oculocutaneous Albinism, Type Ib 57
Platinum Oculocutaneous Albinism 59
Yellow Oculocutaneous Albinism 59
Albinism, Oculocutaneous, 1b 75
Albinism Yellow Mutant Type 75
Yellow Mutant Albinism 53
Ts Oca Type 1 59
Oca1-Ts 59
Oca-Its 75
Oca-Ib 75

Characteristics:

Orphanet epidemiological data:

59
temperature-sensitive oculocutaneous albinism type 1
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;
oculocutaneous albinism type 1b
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

HPO:

32
albinism, oculocutaneous, type ib:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Albinism, Oculocutaneous, Type Ib

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 79434Disease definitionOculocutaneous albinism type 1B (OCA1B) is a type of OCA1 (see this term) characterized by skin and hair hypopigmentation, nystagmus, reduced iris and retinal pigment and misrouting of the optic nerves.EpidemiologyThe worldwide prevalence of OCA1 is estimated at 1/40,000. OCA1B is considered to account for about half of all overall OCA1 cases among non-Hispanic Caucasian patients.Clinical descriptionNewborns have white or very light yellow hair but with age the hair can darken to blond or light brown. Eyelash hair can be darker than scalp and eyebrow hair. Skin remains creamy white but a minimal amount of tanning is possible along with freckles and pigmented nevi. Nytagmus is sometimes visible at birth but in others not until 3 to 4 months of age. It continues throughout life but becomes less rapid with age and is usually more noticeable in times of stress, anger or tiredness. Iris color is blue at birth and can change to brownish tan or greenish hazel or remain unchanged. Visual acuity ranges from 20/100 to 20/200. With time, skin can become rough, coarse and thickened if sun protection procedures are not followed. Patients have an increased risk of developing basal and squamous cell carcinomas but melanomas are rare.EtiologyOCA1B is caused by a mutation in the TYR gene located on chromosome 11q14.2 encoding tyrosinase. The mutation causes the production of a partially active or hypomorphic tyrosinase enzyme that leads to minimal melanin formation in melanocytes.Diagnostic methodsThe characteristic clinical findings along with confirmatory genetic testing are used to diagnose OCA1B. Ophthalmologic examination reveals visualization of the choroidal blood vessels, reduced retinal pigment and foveal hypoplasia. Alternating strabismus, reduced stereoscopic vision, and an altered visual evoked potential (VEP) are associated with the characteristic misrouting of the optic nerves at the chiasm. Molecular genetic testing is necessary to obtain a definitive diagnosis, as some OCA1B patients have a certain degree of phenotypical variation which may lead to confusion in distinguishing it from other OCAs. This overlap of clinical symptoms emphasizes the importance of genetic analysis in the diagnosis of albinism.Differential diagnosisDifferential diagnoses include the other forms of OCA and X-linked recessive ocular albinism (XLOA) as well as syndromes with albinism as a feature such as Hermansky-Pudlak syndromes 1-9, Chediak-Higashi syndrome, Griscelli syndromes 1-3, and Waardenburg syndrome type II (see these terms).Antenatal diagnosisPrenatal testing is theoretically possible for at risk pregnancies by molecular genetic testing although there are no reports of it having been performed.Genetic counselingThis disorder is inherited autosomal recessively and genetic counseling is available.Management and treatmentAnnual ophthalmologic examination is necessary and corrective lenses or glasses are given to improve visual acuity. Dark glasses may be needed to relieve photophobia. Strabismus surgery can be performed for functional or cosmetic reasons. Protection from sunlight is imperative and patients should wear clothing and sunscreen on exposed skin to prevent burning and reduce the risk of skin cancer. Annual skin examinations should also be performed to identify any pre-cancerous or cancerous lesions.PrognosisOCA1B is not life threatening and remains stable after childhood. The medical and social consequences can however have major impacts on a patient's daily life.Visit the Orphanet disease page for more resources.

MalaCards based summary : Albinism, Oculocutaneous, Type Ib, also known as oca1b, is related to albinism, oculocutaneous, type ia and albinism. An important gene associated with Albinism, Oculocutaneous, Type Ib is TYR (Tyrosinase), and among its related pathways/superpathways are Viral mRNA Translation and Phenylalanine metabolism. The drug Nitisinone has been mentioned in the context of this disorder. Affiliated tissues include skin, eye and testes, and related phenotypes are nystagmus and visual impairment

Disease Ontology : 12 An oculocutaneous albinism that has material basis in an autosomal recessive hypomorphic mutation of TYR on chromosome 11q14.3 with retention of some residual protein activity.

OMIM : 57 Oculocutaneous albinism type I is an autosomal recessive disorder characterized by absence of pigment in hair, skin, and eyes, and does not vary with race or age. Severe nystagmus, photophobia, and reduced visual acuity are common features. OCA type I is divided into 2 types: type IA, characterized by complete lack of tyrosinase activity due to production of an inactive enzyme, and type IB, characterized by reduced activity of tyrosinase. Although OCA caused by mutations in the TYR gene was classically known as 'tyrosinase-negative' OCA, Tripathi et al. (1992) noted that some patients with 'tyrosinase-positive' OCA may indeed have TYR mutations resulting in residual enzyme activity. These patients can be classified as having OCA1B. (606952)

UniProtKB/Swiss-Prot : 75 Albinism, oculocutaneous, 1B: An autosomal recessive disorder in which the biosynthesis of melanin pigment is reduced in skin, hair, and eyes. It is characterized by partial lack of tyrosinase activity. Patients have white hair at birth that rapidly turns yellow or blond. They manifest the development of minimal-to-moderate amounts of cutaneous and ocular pigment. Some patients may have with white hair in the warmer areas (scalp and axilla) and progressively darker hair in the cooler areas (extremities). This variant phenotype is due to a loss of tyrosinase activity above 35-37 degrees C.

Related Diseases for Albinism, Oculocutaneous, Type Ib

Diseases in the Oculocutaneous Albinism family:

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

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

(show all 27)
# Related Disease Score Top Affiliating Genes
1 albinism, oculocutaneous, type ia 30.5 LRMDA MYBPH OCA2 SLC24A5 SLC45A2 TYR
2 albinism 29.2 LRMDA OCA2 SLC24A5 SLC45A2 TYR TYRP1
3 oculocutaneous albinism 29.2 LRMDA OCA2 SLC24A5 SLC45A2 TYR TYRP1
4 congenital nystagmus 10.1 OCA2 TYR
5 acute contagious conjunctivitis 10.1 OCA2 TYR
6 hermansky-pudlak syndrome 10.1 TYR TYRP1
7 dyschromatosis symmetrica hereditaria 10.1 OCA2 TYR
8 vitiligo-associated multiple autoimmune disease susceptibility 6 10.1 TYR TYRP1
9 amelanotic melanoma 10.1 TYR TYRP1
10 dowling-degos disease 1 10.1 TYR TYRP1
11 hermansky-pudlak syndrome 3 10.1 TYR TYRP1
12 waardenburg syndrome, type 2a 10.0 TYR TYRP1
13 anorexia nervosa 10.0
14 vitiligo-associated multiple autoimmune disease susceptibility 1 10.0 TYR TYRP1
15 chediak-higashi syndrome 10.0 TYR TYRP1
16 vogt-koyanagi-harada disease 10.0 TYR TYRP1
17 pathologic nystagmus 10.0 OCA2 SLC45A2 TYR
18 glycine encephalopathy 9.9 MYBPH OCA2
19 waardenburg's syndrome 9.9 TYR TYRP1
20 strabismus 9.8 SLC24A5 TYR TYRP1
21 ocular albinism 9.8 OCA2 SLC45A2 TYR TYRP1
22 hermansky-pudlak syndrome 1 9.7 OCA2 SLC24A5 SLC45A2 TYR
23 albinism, oculocutaneous, type iii 9.6 LRMDA OCA2 SLC45A2 TYR TYRP1
24 albinism, oculocutaneous, type ii 9.6 OCA2 SLC24A5 SLC45A2 TYR TYRP1
25 albinism, oculocutaneous, type vii 9.4 LRMDA OCA2 SLC24A5 SLC45A2 TYR TYRP1
26 albinism, oculocutaneous, type v 9.4 LRMDA OCA2 SLC24A5 SLC45A2 TYR TYRP1
27 albinism, oculocutaneous, type iv 9.1 FAH LRMDA OCA2 SLC24A5 SLC45A2 TYR

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



Diseases related to Albinism, Oculocutaneous, Type Ib

Symptoms & Phenotypes for Albinism, Oculocutaneous, Type Ib

Clinical features from OMIM:

606952

Human phenotypes related to Albinism, Oculocutaneous, Type Ib:

59 32 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0000639
2 visual impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000505
3 abnormality of retinal pigmentation 59 32 hallmark (90%) Very frequent (99-80%) HP:0007703
4 photophobia 59 32 frequent (33%) Frequent (79-30%) HP:0000613
5 strabismus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000486
6 melanocytic nevus 59 32 frequent (33%) Frequent (79-30%) HP:0000995
7 melanoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002861
8 hypopigmentation of hair 59 32 Very frequent (99-80%) HP:0005599
9 thickened skin 59 32 occasional (7.5%) Occasional (29-5%) HP:0001072
10 iris hypopigmentation 59 32 hallmark (90%) Very frequent (99-80%) HP:0007730
11 squamous cell carcinoma of the skin 59 32 occasional (7.5%) Occasional (29-5%) HP:0006739
12 freckling 59 32 hallmark (90%) Very frequent (99-80%) HP:0001480
13 hypoplasia of the fovea 59 32 frequent (33%) Frequent (79-30%) HP:0007750
14 hypopigmentation of the skin 59 32 Very frequent (99-80%) HP:0001010
15 abnormality of the optic nerve 59 32 frequent (33%) Frequent (79-30%) HP:0000587
16 albinism 59 32 hallmark (90%) Very frequent (99-80%) HP:0001022
17 basal cell carcinoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002671
18 hypopigmentation of the fundus 32 HP:0007894

MGI Mouse Phenotypes related to Albinism, Oculocutaneous, Type Ib:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.98 FAH LRMDA OCA2 SLC24A5 SLC45A2 TYR
2 growth/size/body region MP:0005378 9.85 FAH OCA2 SLC24A5 SLC45A2 TYR TYRP1
3 homeostasis/metabolism MP:0005376 9.8 FAH LRMDA OCA2 SLC24A5 SLC45A2 TYR
4 craniofacial MP:0005382 9.71 OCA2 SLC24A5 TYR TYRP1
5 hearing/vestibular/ear MP:0005377 9.62 OCA2 SLC24A5 TYR TYRP1
6 integument MP:0010771 9.55 OCA2 SLC24A5 SLC45A2 TYR TYRP1
7 pigmentation MP:0001186 9.35 OCA2 SLC24A5 SLC45A2 TYR TYRP1
8 vision/eye MP:0005391 9.02 OCA2 SLC24A5 SLC45A2 TYR TYRP1

Drugs & Therapeutics for Albinism, Oculocutaneous, Type Ib

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nitisinone Approved, Investigational Phase 1, Phase 2 104206-65-7 115355

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Nitisinone for Type 1B Oculocutaneous Albinism Completed NCT01838655 Phase 1, Phase 2 Nitisinone

Search NIH Clinical Center for Albinism, Oculocutaneous, Type Ib

Genetic Tests for Albinism, Oculocutaneous, Type Ib

Genetic tests related to Albinism, Oculocutaneous, Type Ib:

# Genetic test Affiliating Genes
1 Oculocutaneous Albinism Type 1b 29 TYR

Anatomical Context for Albinism, Oculocutaneous, Type Ib

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

41
Skin, Eye, Testes

Publications for Albinism, Oculocutaneous, Type Ib

Articles related to Albinism, Oculocutaneous, Type Ib:

# Title Authors Year
1
A new hypothesis of OCA1B. ( 18925668 )
2008
2
Ophthalmic features of minimal pigment oculocutaneous albinism. ( 8190479 )
1994

Variations for Albinism, Oculocutaneous, Type Ib

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

75
# Symbol AA change Variation ID SNP ID
1 TYR p.Val275Phe VAR_007669 rs104894314
2 TYR p.Thr325Ala VAR_007675 rs61754379
3 TYR p.Ser380Pro VAR_007681 rs61754391
4 TYR p.His390Asp VAR_007684 rs62645914
5 TYR p.Arg403Ser VAR_007687 rs104894316
6 TYR p.Pro406Leu VAR_007689 rs104894313
7 TYR p.Arg422Gln VAR_007691 rs61754393
8 TYR p.Pro152Ser VAR_007925 rs145513733
9 TYR p.Glu294Lys VAR_007928 rs757754120
10 TYR p.Arg402Gly VAR_007937

ClinVar genetic disease variations for Albinism, Oculocutaneous, Type Ib:

6 (show all 28)
# Gene Variation Type Significance SNP ID Assembly Location
1 TYR NM_000372.4(TYR): c.242C> T (p.Pro81Leu) single nucleotide variant Pathogenic rs28940876 GRCh37 Chromosome 11, 88911363: 88911363
2 TYR NM_000372.4(TYR): c.242C> T (p.Pro81Leu) single nucleotide variant Pathogenic rs28940876 GRCh38 Chromosome 11, 89178195: 89178195
3 TYR NM_000372.4(TYR): c.823G> T (p.Val275Phe) single nucleotide variant Pathogenic rs104894314 GRCh37 Chromosome 11, 88924373: 88924373
4 TYR NM_000372.4(TYR): c.823G> T (p.Val275Phe) single nucleotide variant Pathogenic rs104894314 GRCh38 Chromosome 11, 89191205: 89191205
5 TYR NM_000372.4(TYR): c.1118C> A (p.Thr373Lys) single nucleotide variant Pathogenic rs61754388 GRCh37 Chromosome 11, 88961072: 88961072
6 TYR NM_000372.4(TYR): c.1118C> A (p.Thr373Lys) single nucleotide variant Pathogenic rs61754388 GRCh38 Chromosome 11, 89227904: 89227904
7 TYR NM_000372.4(TYR): c.1147G> A (p.Asp383Asn) single nucleotide variant Pathogenic rs121908011 GRCh37 Chromosome 11, 88961101: 88961101
8 TYR NM_000372.4(TYR): c.1147G> A (p.Asp383Asn) single nucleotide variant Pathogenic rs121908011 GRCh38 Chromosome 11, 89227933: 89227933
9 TYR NM_000372.4(TYR): c.1217C> T (p.Pro406Leu) single nucleotide variant Pathogenic/Likely pathogenic rs104894313 GRCh37 Chromosome 11, 89017973: 89017973
10 TYR NM_000372.4(TYR): c.1217C> T (p.Pro406Leu) single nucleotide variant Pathogenic/Likely pathogenic rs104894313 GRCh38 Chromosome 11, 89284805: 89284805
11 TYR NM_000372.4(TYR): c.1265G> A (p.Arg422Gln) single nucleotide variant Pathogenic rs61754393 GRCh38 Chromosome 11, 89284853: 89284853
12 TYR NM_000372.4(TYR): c.1205G> A (p.Arg402Gln) single nucleotide variant Conflicting interpretations of pathogenicity, association, other, risk factor rs1126809 GRCh37 Chromosome 11, 89017961: 89017961
13 TYR NM_000372.4(TYR): c.1205G> A (p.Arg402Gln) single nucleotide variant Conflicting interpretations of pathogenicity, association, other, risk factor rs1126809 GRCh38 Chromosome 11, 89284793: 89284793
14 TYR NM_000372.4(TYR): c.1265G> A (p.Arg422Gln) single nucleotide variant Pathogenic rs61754393 GRCh37 Chromosome 11, 89018021: 89018021
15 TYR NM_000372.4(TYR): c.140G> A (p.Gly47Asp) single nucleotide variant Pathogenic rs61753180 GRCh37 Chromosome 11, 88911261: 88911261
16 TYR NM_000372.4(TYR): c.140G> A (p.Gly47Asp) single nucleotide variant Pathogenic rs61753180 GRCh38 Chromosome 11, 89178093: 89178093
17 TYR NM_000372.4(TYR): c.1467dupT (p.Ala490Cysfs) duplication Pathogenic rs61754399 GRCh37 Chromosome 11, 89028411: 89028411
18 TYR NM_000372.4(TYR): c.1467dupT (p.Ala490Cysfs) duplication Pathogenic rs61754399 GRCh38 Chromosome 11, 89295243: 89295243
19 TYR NM_000372.4(TYR): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs28940881 GRCh37 Chromosome 11, 88911122: 88911122
20 TYR NM_000372.4(TYR): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs28940881 GRCh38 Chromosome 11, 89177954: 89177954
21 TYR NM_000372.4(TYR): c.1037-7T> A single nucleotide variant Pathogenic/Likely pathogenic rs61754381 GRCh37 Chromosome 11, 88960984: 88960984
22 TYR NM_000372.4(TYR): c.1037-7T> A single nucleotide variant Pathogenic/Likely pathogenic rs61754381 GRCh38 Chromosome 11, 89227816: 89227816
23 TYR NM_000372.4(TYR): c.163T> G (p.Cys55Gly) single nucleotide variant not provided rs367543067 GRCh38 Chromosome 11, 89178116: 89178116
24 TYR NM_000372.4(TYR): c.163T> G (p.Cys55Gly) single nucleotide variant not provided rs367543067 GRCh37 Chromosome 11, 88911284: 88911284
25 TYR NM_000372.4(TYR): c.551C> G (p.Ser184Ter) single nucleotide variant Likely pathogenic rs367543066 GRCh38 Chromosome 11, 89178504: 89178504
26 TYR NM_000372.4(TYR): c.551C> G (p.Ser184Ter) single nucleotide variant Likely pathogenic rs367543066 GRCh37 Chromosome 11, 88911672: 88911672
27 TYR NM_000372.4(TYR): c.739T> C (p.Cys247Arg) single nucleotide variant Likely pathogenic rs367543068 GRCh38 Chromosome 11, 89178692: 89178692
28 TYR NM_000372.4(TYR): c.739T> C (p.Cys247Arg) single nucleotide variant Likely pathogenic rs367543068 GRCh37 Chromosome 11, 88911860: 88911860

Cosmic variations for Albinism, Oculocutaneous, Type Ib:

9 (show top 50) (show all 550)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM6982918 YES1 skin,eye,carcinoma,squamous cell carcinoma c.851G>A p.G284E 18:743289-743289 7
2 COSM4736805 TSC1 skin,eye,carcinoma,squamous cell carcinoma c.2065C>T p.R689C 9:132903794-132903794 7
3 COSM6971614 TRAF7 skin,eye,carcinoma,squamous cell carcinoma c.349G>A p.E117K 16:2171264-2171264 7
4 COSM11183 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.799C>T p.R267W 17:7673821-7673821 7
5 COSM10654 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.637C>T p.R213* 17:7674894-7674894 7
6 COSM10705 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.586C>T p.R196* 17:7674945-7674945 7
7 COSM44135 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.724T>G p.C242G 17:7674239-7674239 7
8 COSM44495 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.559+2T>A p.? 17:7675051-7675051 7
9 COSM10726 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.856G>A p.E286K 17:7673764-7673764 7
10 COSM45444 TP53 skin,eye,carcinoma,squamous cell carcinoma c.587G>T p.R196L 17:7674944-7674944 7
11 COSM10659 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.817C>T p.R273C 17:7673803-7673803 7
12 COSM43753 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.560-1G>A p.? 17:7674972-7674972 7
13 COSM44544 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.766A>G p.T256A 17:7674197-7674197 7
14 COSM10662 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.743G>A p.R248Q 17:7674220-7674220 7
15 COSM11066 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.578A>T p.H193L 17:7674953-7674953 7
16 COSM6937552 TP53 skin,eye,carcinoma,squamous cell carcinoma c.859G>C p.E287Q 17:7673761-7673761 7
17 COSM6903923 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.356C>T p.A119V 17:7676013-7676013 7
18 COSM43952 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.710T>A p.M237K 17:7674253-7674253 7
19 COSM44023 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.560G>A p.G187D 17:7674971-7674971 7
20 COSM44151 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.535C>A p.H179N 17:7675077-7675077 7
21 COSM10812 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.722C>T p.S241F 17:7674241-7674241 7
22 COSM44393 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.821T>C p.V274A 17:7673799-7673799 7
23 COSM11451 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.672G>T p.E224D 17:7674859-7674859 7
24 COSM10725 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.701A>G p.Y234C 17:7674262-7674262 7
25 COSM10724 TP53 skin,eye,carcinoma,squamous cell carcinoma c.839G>C p.R280T 17:7673781-7673781 7
26 COSM4462891 STK40 skin,eye,carcinoma,squamous cell carcinoma c.1265C>T p.S422F 1:36341798-36341798 7
27 COSM4462893 STK40 skin,eye,carcinoma,squamous cell carcinoma c.1265C>T p.S422F 1:36341798-36341798 7
28 COSM6009093 SPEN skin,eye,carcinoma,squamous cell carcinoma c.9563C>T p.P3188L 1:15935803-15935803 7
29 COSM6982915 SOX2 skin,eye,carcinoma,squamous cell carcinoma c.237G>A p.W79* 3:181712597-181712597 7
30 COSM5538304 RNF43 skin,eye,carcinoma,squamous cell carcinoma c.866C>T p.S289F 17:58360235-58360235 7
31 COSM5468163 RAD52 skin,eye,carcinoma,squamous cell carcinoma c.779G>A p.R260Q 12:916430-916430 7
32 COSM6970765 PTPRD skin,scalp,carcinoma,squamous cell carcinoma c.2471C>T p.P824L 9:8486346-8486346 7
33 COSM221754 PPP6C skin,eye,carcinoma,squamous cell carcinoma c.790C>T p.R264C 9:125149801-125149801 7
34 COSM6971613 PIK3R1 skin,eye,carcinoma,squamous cell carcinoma c.608A>G p.Y203C 5:68279707-68279707 7
35 COSM163485 PIK3CA skin,scalp,carcinoma,squamous cell carcinoma c.311C>T p.P104L 3:179199136-179199136 7
36 COSM6903911 NRAS skin,scalp,carcinoma,squamous cell carcinoma c.332T>A p.M111K 1:114709687-114709687 7
37 COSM573 NRAS skin,scalp,carcinoma,squamous cell carcinoma c.38G>A p.G13D 1:114716123-114716123 7
38 COSM133959 NOTCH2 skin,scalp,carcinoma,squamous cell carcinoma c.5512C>T p.R1838* 1:119919581-119919581 7
39 COSM6903859 NOTCH2 skin,scalp,carcinoma,squamous cell carcinoma c.4358G>A p.G1453D 1:119925458-119925458 7
40 COSM6903874 NOTCH2 skin,scalp,carcinoma,squamous cell carcinoma c.5164A>G p.S1722G 1:119922285-119922285 7
41 COSM6903856 NOTCH2 skin,scalp,carcinoma,squamous cell carcinoma c.4006G>A p.G1336R 1:119925810-119925810 7
42 COSM6903890 NOTCH2 skin,scalp,carcinoma,squamous cell carcinoma c.5930G>A p.G1977E 1:119917762-119917762 7
43 COSM6903862 NOTCH2 skin,scalp,carcinoma,squamous cell carcinoma c.4509C>A p.C1503* 1:119925307-119925307 7
44 COSM6903883 NOTCH2 skin,scalp,carcinoma,squamous cell carcinoma c.5653G>A p.A1885T 1:119919440-119919440 7
45 COSM6903843 NOTCH2 skin,scalp,carcinoma,squamous cell carcinoma c.2891G>A p.C964Y 1:119941616-119941616 7
46 COSM6903868 NOTCH2 skin,scalp,carcinoma,squamous cell carcinoma c.4860-1G>A p.? 1:119922779-119922779 7
47 COSM6903878 NOTCH2 skin,scalp,carcinoma,squamous cell carcinoma c.5480A>T p.D1827V 1:119919613-119919613 7
48 COSM6903881 NOTCH2 skin,scalp,carcinoma,squamous cell carcinoma c.5630G>A p.G1877D 1:119919463-119919463 7
49 COSM6903831 NOTCH2 skin,scalp,carcinoma,squamous cell carcinoma c.1738C>T p.H580Y 1:119963751-119963751 7
50 COSM6903826 NOTCH2 skin,scalp,carcinoma,squamous cell carcinoma c.1319T>G p.F440C 1:119967567-119967567 7

Expression for Albinism, Oculocutaneous, Type Ib

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

Pathways for Albinism, Oculocutaneous, Type Ib

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.96 FAH OCA2 SLC45A2 TYR TYRP1
2
Show member pathways
11.02 FAH TYR TYRP1
3 9.62 OCA2 SLC45A2 TYR TYRP1

GO Terms for Albinism, Oculocutaneous, Type Ib

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

# Name GO ID Score Top Affiliating Genes
1 melanosome GO:0042470 9.13 SLC24A5 TYR TYRP1
2 melanosome membrane GO:0033162 8.92 OCA2 SLC45A2 TYR TYRP1

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

# Name GO ID Score Top Affiliating Genes
1 pigmentation GO:0043473 9.33 OCA2 TYR TYRP1
2 developmental pigmentation GO:0048066 9.32 OCA2 SLC45A2
3 eye pigment biosynthetic process GO:0006726 9.26 OCA2 TYR
4 melanocyte differentiation GO:0030318 9.13 LRMDA OCA2 TYRP1
5 melanin biosynthetic process GO:0042438 8.92 OCA2 SLC45A2 TYR TYRP1

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

# Name GO ID Score Top Affiliating Genes
1 monooxygenase activity GO:0004497 8.62 TYR TYRP1

Sources for Albinism, Oculocutaneous, Type Ib

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....