OCA1B
MCID: ALB010
MIFTS: 54

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 56 13 39 71
Oca1b 56 12 52 58 73 54
Oculocutaneous Albinism Type 1b 52 58 29 6
Oculocutaneous Albinism Type Ib 12 73 15
Albinism, Yellow Mutant Type 56 12 52
Yellow Albinism 56 52 73
Albinism, Oculocutaneous, Type I, Temperature-Sensitive 71
Oculocutaneous Albinism Type 1, Temperature Sensitive 6
Temperature-Sensitive Oculocutaneous Albinism Type 1 58
Oculocutaneous Albinism Type I Temperature-Sensitive 73
Minimal Pigment Oculocutaneous Albinism 71
Oculocutaneous Albinism, Amish Type 58
Oculocutaneous Albinism, Type Ib 56
Platinum Oculocutaneous Albinism 58
Yellow Oculocutaneous Albinism 58
Albinism, Oculocutaneous, 1b 73
Albinism Yellow Mutant Type 73
Yellow Mutant Albinism 52
Ts Oca Type 1 58
Oca1-Ts 58
Oca-Its 73
Oca-Ib 73

Characteristics:

Orphanet epidemiological data:

58
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:

31
albinism, oculocutaneous, type ib:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Rare skin diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0070095
OMIM 56 606952
OMIM Phenotypic Series 56 PS203100
MeSH 43 D016115
MESH via Orphanet 44 C537729
ICD10 via Orphanet 33 E70.3
UMLS via Orphanet 72 C1847024 C1847132
UMLS 71 C0342681 C1847024 C1847132

Summaries for Albinism, Oculocutaneous, Type Ib

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79434 Definition Oculocutaneous 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. Epidemiology The 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 description Newborns 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. Etiology OCA1B 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 methods The 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 diagnosis Differential 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 diagnosis Prenatal testing is theoretically possible for at risk pregnancies by molecular genetic testing although there are no reports of it having been performed. Genetic counseling This disorder is inherited autosomal recessively and genetic counseling is available. Management and treatment Annual 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. Prognosis OCA1B 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, oculocutaneous, type ii. An important gene associated with Albinism, Oculocutaneous, Type Ib is TYR (Tyrosinase), and among its related pathways/superpathways are Tyrosine metabolism and Melanin biosynthesis. The drugs Nitisinone and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and testes, and related phenotypes are abnormality of retinal pigmentation and strabismus

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 : 56 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 : 73 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 34)
# Related Disease Score Top Affiliating Genes
1 albinism, oculocutaneous, type ia 28.8 TYRP1 TYR SLC45A2 SLC24A5 OCA2 LRMDA
2 albinism, oculocutaneous, type ii 28.7 TYRP1 TYR SLC45A2 SLC24A5 OCA2 HPS3
3 albinism 28.3 TYRP1 TYR SLC45A2 SLC24A5 OCA2 LRMDA
4 ocular albinism 28.3 TYRP1 TYR SLC45A2 SLC24A5 OCA2 LRMDA
5 oculocutaneous albinism 27.4 TYRP1 TYR SLC45A2 SLC24A5 OCA2 LRMDA
6 skin/hair/eye pigmentation, variation in, 3 10.2
7 melanoma, cutaneous malignant 8 10.2
8 ochronosis 10.2 TYRP1 TYR
9 dowling-degos disease 1 10.1 TYRP1 TYR
10 syndromic oculocutaneous albinism 10.1 SLC24A5 OCA2
11 amelanotic melanoma 10.1 TYRP1 TYR
12 anorexia nervosa 10.0
13 ichthyosis, congenital, autosomal recessive 11 10.0 SLC45A2 SLC24A5
14 aland island eye disease 10.0 LRMDA GPR143
15 vogt-koyanagi-harada disease 10.0 TYRP1 TYR
16 vitiligo-associated multiple autoimmune disease susceptibility 1 9.9 TYRP1 TYR
17 congenital nystagmus 9.9 TYR OCA2 GPR143
18 autosomal recessive congenital ichthyosis 9.8 SLC45A2 SLC24A5 OCA2
19 chediak-higashi syndrome 9.7 TYRP1 TYR
20 acute contagious conjunctivitis 9.7 TYRP1 TYR SLC45A2 OCA2
21 acute conjunctivitis 9.7 TYRP1 TYR SLC45A2 OCA2
22 tietz albinism-deafness syndrome 9.7 TYRP1 TYR SLC45A2 OCA2
23 piebald trait 9.7 TYRP1 TYR SLC45A2 OCA2
24 melanoma, cutaneous malignant 1 9.7 TYRP1 TYR SLC45A2 OCA2
25 storage pool platelet disease 9.7 HPS3 BLOC1S3
26 exotropia 9.6 HPS3 BLOC1S3
27 arthrogryposis, renal dysfunction, and cholestasis 1 9.5 HPS3 BLOC1S3
28 strabismus 9.4 TYRP1 TYR SLC24A5 GPR143
29 albinism, oculocutaneous, type vii 9.2 SLC45A2 SLC24A5 OCA2 LRMDA GPR143
30 albinism, oculocutaneous, type v 8.7 TYRP1 TYR SLC45A2 SLC24A5 OCA2 LRMDA
31 pathologic nystagmus 8.6 TYRP1 TYR SLC45A2 OCA2 LRMDA HPS3
32 hermansky-pudlak syndrome 8.2 TYRP1 TYR SLC45A2 OCA2 KXD1 HPS3
33 albinism, oculocutaneous, type iv 8.1 TYRP1 TYR SLC45A2 SLC24A5 OCA2 LRMDA
34 albinism, oculocutaneous, type iii 8.1 TYRP1 TYR SLC45A2 SLC24A5 OCA2 LRMDA

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

Human phenotypes related to Albinism, Oculocutaneous, Type Ib:

58 31 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of retinal pigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007703
2 strabismus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000486
3 freckling 58 31 hallmark (90%) Very frequent (99-80%) HP:0001480
4 iris hypopigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007730
5 albinism 58 31 hallmark (90%) Very frequent (99-80%) HP:0001022
6 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
7 visual impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000505
8 photophobia 58 31 frequent (33%) Frequent (79-30%) HP:0000613
9 melanocytic nevus 58 31 frequent (33%) Frequent (79-30%) HP:0000995
10 hypoplasia of the fovea 58 31 frequent (33%) Frequent (79-30%) HP:0007750
11 abnormality of the optic nerve 58 31 frequent (33%) Frequent (79-30%) HP:0000587
12 thickened skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0001072
13 melanoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002861
14 basal cell carcinoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002671
15 squamous cell carcinoma of the skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0006739
16 hypopigmentation of hair 58 31 Very frequent (99-80%) HP:0005599
17 hypopigmentation of the skin 58 31 Very frequent (99-80%) HP:0001010
18 hypopigmentation of the fundus 31 HP:0007894

Clinical features from OMIM:

606952

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.91 BLOC1S3 LRMDA OCA2 SLC24A5 SLC45A2 TYR
2 craniofacial MP:0005382 9.72 BLOC1S3 OCA2 SLC24A5 TYR TYRP1
3 integument MP:0010771 9.7 BLOC1S3 HPS3 OCA2 SLC24A5 SLC45A2 TYR
4 hearing/vestibular/ear MP:0005377 9.65 BLOC1S3 OCA2 SLC24A5 TYR TYRP1
5 pigmentation MP:0001186 9.61 BLOC1S3 GPR143 HPS3 KXD1 OCA2 SLC24A5
6 vision/eye MP:0005391 9.28 BLOC1S3 GPR143 HPS3 KXD1 OCA2 SLC24A5

Drugs & Therapeutics for Albinism, Oculocutaneous, Type Ib

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

(show all 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nitisinone Approved, Investigational Phase 1, Phase 2 104206-65-7 115355
2
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
3
Levodopa Approved Phase 2 59-92-7 6047
4
Carbidopa Approved Phase 2 28860-95-9 34359
5 Sympathomimetics Phase 2
6 Neurotransmitter Agents Phase 2
7 Dopamine Agents Phase 2
8 Antiparkinson Agents Phase 2
9 Aromatic Amino Acid Decarboxylase Inhibitors Phase 2
10 Carbidopa, levodopa drug combination Phase 2
11 Autonomic Agents Phase 2
12 Protective Agents Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Pilot Study of Nitisinone in the Treatment of Oculocutaneous Albinism, Type 1B Completed NCT01838655 Phase 1, Phase 2 Nitisinone
2 Interventional Study of Levodopa Replacement on Retinal Function in Oculocutaneous Albinism Terminated NCT01663935 Phase 2 Levodopa/carbidopa

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:

40
Skin, Eye, Testes

Publications for Albinism, Oculocutaneous, Type Ib

Articles related to Albinism, Oculocutaneous, Type Ib:

(show all 42)
# Title Authors PMID Year
1
A new hypothesis of OCA1B. 61 56 6
18925668 2008
2
Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA). 56 6
9158138 1997
3
A nonsense mutation in the tyrosinase gene of Afghan patients with tyrosinase negative (type IA) oculocutaneous albinism. 56 6
1832718 1991
4
Temperature-sensitive tyrosinase associated with peripheral pigmentation in oculocutaneous albinism. 56 6
1900307 1991
5
Heterogeneity in Waardenburg's syndrome. Report of a family with ocular albinism. 56 6
666627 1978
6
Amish albinism: a distinctive autosomal recessive phenotype. 56 6
5516239 1970
7
Oculocutaneous Albinism Type 1 61 6
20301345 2000
8
DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics. 6
23504663 2013
9
Oculocutaneous albinism spectrum. 6
19533789 2009
10
The R402Q tyrosinase variant does not cause autosomal recessive ocular albinism. 6
19208379 2009
11
Two newly identified genetic determinants of pigmentation in Europeans. 6
18488028 2008
12
ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinoma. 6
18488027 2008
13
A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients. 6
18326704 2008
14
Genetic determinants of hair, eye and skin pigmentation in Europeans. 6
17952075 2007
15
A common temperature-sensitive allelic form of human tyrosinase is retained in the endoplasmic reticulum at the nonpermissive temperature. 6
10766867 2000
16
Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism. 6
7704033 1995
17
A frequent tyrosinase gene mutation associated with type I-A (tyrosinase-negative) oculocutaneous albinism in Puerto Rico. 6
8434585 1993
18
Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions. 6
1642278 1992
19
Non-random distribution of missense mutations within the human tyrosinase gene in type I (tyrosinase-related) oculocutaneous albinism. 6
1943686 1991
20
A frequent tyrosinase gene mutation in classic, tyrosinase-negative (type IA) oculocutaneous albinism. 56
1970634 1990
21
Molecular basis of mouse Himalayan mutation. 6
2567165 1989
22
Minimal pigment: a new type of oculocutaneous albinism. 56
3081286 1986
23
Response to Warren's letter. 56
17948558 1981
24
Yellow mutant albinism: cytochemical, ultrastructural, and genetic characterization suggesting multiple allelism. 56
6770679 1980
25
Waardenburg's syndrome with fundus and other anomalies. 56
4958935 1966
26
Electron microscopic DOPA reaction test for oculocutaneous albinism. 54 61
10929771 2000
27
Changes in refractive errors in albinism: a longitudinal study over the first decade of life. 61
30343058 2018
28
Minimal Efficacy of Nitisinone Treatment in a Novel Mouse Model of Oculocutaneous Albinism, Type 3. 61
30347088 2018
29
Dynamic analysis of human tyrosinase intra-melanosomal domain and mutant variants to further understand oculocutaneous albinism type 1. 61
30868138 2018
30
Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B). 61
28667292 2017
31
Oculocutaneous albinism type 1: link between mutations, tyrosinase conformational stability, and enzymatic activity. 61
27775880 2017
32
Functional assessment of tyrosinase variants identified in individuals with albinism is essential for unequivocal determination of genotype-to-phenotype correlation. 61
27537549 2016
33
A cross-sectional examination of visual acuity by specific type of albinism. 61
27647118 2016
34
Mutational analysis of oculocutaneous albinism: a compact review. 61
25093188 2014
35
Albinism-causing mutations in recombinant human tyrosinase alter intrinsic enzymatic activity. 61
24392141 2014
36
Refractive profile in oculocutaneous albinism and its correlation with final visual outcome. 61
22133989 2012
37
Oculocutaneous albinism type 1A: a case report. 61
19094851 2008
38
Oculocutaneous albinism. 61
17980020 2007
39
Molecular basis of oculocutaneous albinism type 1 in Lebanese patients. 61
15937636 2005
40
Tyrosinase gene mutations in oculocutaneous albinism 1 (OCA1): definition of the phenotype. 61
13680365 2003
41
Mutations of the human tyrosinase gene associated with tyrosinase related oculocutaneous albinism (OCA1). Mutations in brief no. 204. Online. 61
10671066 1998
42
Type I oculocutaneous albinism associated with a full-length deletion of the tyrosinase gene. 54
8618053 1996

Variations for Albinism, Oculocutaneous, Type Ib

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

6 (show all 22) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TYR NM_000372.5(TYR):c.1118C>A (p.Thr373Lys)SNV Pathogenic 3774 rs61754388 11:88961072-88961072 11:89227904-89227904
2 TYR NM_000372.5(TYR):c.1147G>A (p.Asp383Asn)SNV Pathogenic 3775 rs121908011 11:88961101-88961101 11:89227933-89227933
3 TYR NM_000372.5(TYR):c.1265G>A (p.Arg422Gln)SNV Pathogenic 3782 rs61754393 11:89018021-89018021 11:89284853-89284853
4 TYR NM_000372.5(TYR):c.164G>A (p.Cys55Tyr)SNV Pathogenic 3790 rs28940879 11:88911285-88911285 11:89178117-89178117
5 TYR NM_000372.5(TYR):c.1A>G (p.Met1Val)SNV Pathogenic 3807 rs28940881 11:88911122-88911122 11:89177954-89177954
6 TYR NM_000372.5(TYR):c.346C>T (p.Arg116Ter)SNV Pathogenic 99565 rs61753256 11:88911467-88911467 11:89178299-89178299
7 TYR NM_000372.5(TYR):c.832C>T (p.Arg278Ter)SNV Pathogenic 99583 rs62645904 11:88924382-88924382 11:89191214-89191214
8 TYR NM_000372.5(TYR):c.1037-7T>ASNV Pathogenic/Likely pathogenic 99527 rs61754381 11:88960984-88960984 11:89227816-89227816
9 TYR NM_000372.5(TYR):c.1199G>T (p.Trp400Leu)SNV Pathogenic/Likely pathogenic 99541 rs62645916 11:89017955-89017955 11:89284787-89284787
10 TYR NM_000372.5(TYR):c.140G>A (p.Gly47Asp)SNV Pathogenic/Likely pathogenic 3794 rs61753180 11:88911261-88911261 11:89178093-89178093
11 TYR NM_000372.5(TYR):c.230G>A (p.Arg77Gln)SNV Pathogenic/Likely pathogenic 3776 rs61753185 11:88911351-88911351 11:89178183-89178183
12 TYR NM_000372.5(TYR):c.1217C>T (p.Pro406Leu)SNV Pathogenic/Likely pathogenic 3777 rs104894313 11:89017973-89017973 11:89284805-89284805
13 TYR NM_000372.5(TYR):c.823G>T (p.Val275Phe)SNV Pathogenic/Likely pathogenic 3773 rs104894314 11:88924373-88924373 11:89191205-89191205
14 TYR NM_000372.5(TYR):c.1037G>A (p.Gly346Glu)SNV Likely pathogenic 617799 rs773970123 11:88960991-88960991 11:89227823-89227823
15 TYR NM_000372.5(TYR):c.121G>A (p.Gly41Arg)SNV Likely pathogenic 689488 11:88911242-88911242 11:89178074-89178074
16 TYR NM_000372.5(TYR):c.649C>T (p.Arg217Trp)SNV Likely pathogenic 3795 rs63159160 11:88911770-88911770 11:89178602-89178602
17 TYR NM_000372.5(TYR):c.551C>G (p.Ser184Ter)SNV Likely pathogenic 144105 rs367543066 11:88911672-88911672 11:89178504-89178504
18 TYR NM_000372.5(TYR):c.739T>C (p.Cys247Arg)SNV Likely pathogenic 144106 rs367543068 11:88911860-88911860 11:89178692-89178692
19 TYR NM_000372.5(TYR):c.915C>A (p.Asp305Glu)SNV Conflicting interpretations of pathogenicity 418532 rs142170797 11:88924465-88924465 11:89191297-89191297
20 TYR NM_000372.5(TYR):c.1205G>A (p.Arg402Gln)SNV Conflicting interpretations of pathogenicity 3779 rs1126809 11:89017961-89017961 11:89284793-89284793
21 TYR NM_000372.5(TYR):c.1366+4A>GSNV Uncertain significance 99548 rs61754398 11:89018126-89018126 11:89284958-89284958
22 TYR NM_000372.5(TYR):c.163T>G (p.Cys55Gly)SNV not provided 144104 rs367543067 11:88911284-88911284 11:89178116-89178116

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

73
# 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

Cosmic variations for Albinism, Oculocutaneous, Type Ib:

9 (show top 50) (show all 1040)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM152022165 YES1 skin,eye,carcinoma,squamous cell carcinoma c.851G>A p.G284E 18:743289-743289 12
2 COSM85720102 TSC1 skin,eye,carcinoma,squamous cell carcinoma c.2065C>T p.R689C 9:132903794-132903794 12
3 COSM90145852 TRAF7 skin,eye,carcinoma,squamous cell carcinoma c.349G>A p.E117K 16:2171264-2171264 12
4 COSM87923542 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.559+2T>A p.? 17:7675051-7675051 12
5 COSM88372958 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.356C>T p.A119V 17:7676013-7676013 12
6 COSM88080544 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.766A>G p.T256A 17:7674197-7674197 12
7 COSM87900604 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.637C>T p.R213* 17:7674894-7674894 12
8 COSM87907024 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.799C>T p.R267W 17:7673821-7673821 12
9 COSM87898424 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.722C>T p.S241F 17:7674241-7674241 12
10 COSM87899887 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.856G>A p.E286K 17:7673764-7673764 12
11 COSM87909188 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.710T>A p.M237K 17:7674253-7674253 12
12 COSM87898351 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.743G>A p.R248Q 17:7674220-7674220 12
13 COSM87897839 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.701A>G p.Y234C 17:7674262-7674262 12
14 COSM87899497 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.586C>T p.R196* 17:7674945-7674945 12
15 COSM87949230 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.724T>G p.C242G 17:7674239-7674239 12
16 COSM87906799 TP53 skin,eye,carcinoma,squamous cell carcinoma c.839G>C p.R280T 17:7673781-7673781 12
17 COSM87898316 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.560G>A p.G187D 17:7674971-7674971 12
18 COSM87899223 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.578A>T p.H193L 17:7674953-7674953 12
19 COSM87907108 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.672G>T p.E224D 17:7674859-7674859 12
20 COSM87923760 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.821T>C p.V274A 17:7673799-7673799 12
21 COSM87898723 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.817C>T p.R273C 17:7673803-7673803 12
22 COSM87918666 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.535C>A p.H179N 17:7675077-7675077 12
23 COSM87952409 TP53 skin,eye,carcinoma,squamous cell carcinoma c.859G>C p.E287Q 17:7673761-7673761 12
24 COSM87898836 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.560-1G>A p.? 17:7674972-7674972 12
25 COSM87901804 TP53 skin,eye,carcinoma,squamous cell carcinoma c.587G>T p.R196L 17:7674944-7674944 12
26 COSM96398090 STK40 skin,eye,carcinoma,squamous cell carcinoma c.1280C>T p.S427F 1:36341798-36341798 12
27 COSM99818572 SPEN skin,eye,carcinoma,squamous cell carcinoma c.9563C>T p.P3188L 1:15935803-15935803 12
28 COSM89675474 SOX2 skin,eye,carcinoma,squamous cell carcinoma c.237G>A p.W79* 3:181712597-181712597 12
29 COSM140185011 RNF43 skin,eye,carcinoma,squamous cell carcinoma c.866C>T p.S289F 17:58360235-58360235 12
30 COSM94496882 RAD52 skin,eye,carcinoma,squamous cell carcinoma c.779G>A p.R260Q 12:916430-916430 12
31 COSM101863075 PTPRD skin,scalp,carcinoma,squamous cell carcinoma c.2471C>T p.P824L 9:8486346-8486346 12
32 COSM112619412 PPP6C skin,eye,carcinoma,squamous cell carcinoma c.901C>T p.R301C 9:125149801-125149801 12
33 COSM125322720 PIK3R1 skin,eye,carcinoma,squamous cell carcinoma c.608A>G p.Y203C 5:68279707-68279707 12
34 COSM87135614 PIK3CA skin,scalp,carcinoma,squamous cell carcinoma c.311C>T p.P104L 3:179199136-179199136 12
35 COSM97126387 NRAS skin,scalp,carcinoma,squamous cell carcinoma c.332T>A p.M111K 1:114709687-114709687 12
36 COSM97107609 NRAS skin,scalp,carcinoma,squamous cell carcinoma c.38G>A p.G13D 1:114716123-114716123 12
37 COSM88391350 NOTCH2 skin,scalp,carcinoma,squamous cell carcinoma c.4358G>A p.G1453D 1:119925458-119925458 12
38 COSM88395167 NOTCH2 skin,scalp,carcinoma,squamous cell carcinoma c.5857C>T p.R1953C 1:119918478-119918478 12
39 COSM88393883 NOTCH2 skin,scalp,carcinoma,squamous cell carcinoma c.5512C>T p.R1838* 1:119919581-119919581 12
40 COSM88404623 NOTCH2 skin,scalp,carcinoma,squamous cell carcinoma c.7291C>T p.H2431Y 1:119915431-119915431 12
41 COSM88407418 NOTCH2 skin,scalp,carcinoma,squamous cell carcinoma c.4006G>A p.G1336R 1:119925810-119925810 12
42 COSM88401529 NOTCH2 skin,scalp,carcinoma,squamous cell carcinoma c.4510A>G p.K1504E 1:119925306-119925306 12
43 COSM88391329 NOTCH2 skin,scalp,carcinoma,squamous cell carcinoma c.6115A>G p.T2039A 1:119916607-119916607 12
44 COSM88407429 NOTCH2 skin,scalp,carcinoma,squamous cell carcinoma c.2891G>A p.C964Y 1:119941616-119941616 12
45 COSM88398936 NOTCH2 skin,scalp,carcinoma,squamous cell carcinoma c.5930G>A p.G1977E 1:119917762-119917762 12
46 COSM88401533 NOTCH2 skin,scalp,carcinoma,squamous cell carcinoma c.4509C>A p.C1503* 1:119925307-119925307 12
47 COSM88409835 NOTCH2 skin,scalp,carcinoma,squamous cell carcinoma c.1738C>T p.H580Y 1:119963751-119963751 12
48 COSM88405728 NOTCH2 skin,scalp,carcinoma,squamous cell carcinoma c.1319T>G p.F440C 1:119967567-119967567 12
49 COSM88409894 NOTCH2 skin,eye,carcinoma,squamous cell carcinoma c.4091C>T p.P1364L 1:119925725-119925725 12
50 COSM88397240 NOTCH2 skin,scalp,carcinoma,squamous cell carcinoma c.5164A>G p.S1722G 1:119922285-119922285 12

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
10.84 TYRP1 TYR
2 9.62 TYRP1 TYR SLC45A2 OCA2

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 lysosome GO:0005764 9.5 TYR KXD1 GPR143
2 lysosomal membrane GO:0005765 9.43 OCA2 KXD1 GPR143
3 melanosome GO:0042470 9.26 TYRP1 TYR SLC24A5 GPR143
4 BLOC-1 complex GO:0031083 9.16 KXD1 BLOC1S3
5 melanosome membrane GO:0033162 9.02 TYRP1 TYR SLC45A2 OCA2 GPR143

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

# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.61 TYR SLC45A2 GPR143
2 melanosome organization GO:0032438 9.54 TYRP1 GPR143 BLOC1S3
3 developmental pigmentation GO:0048066 9.5 SLC45A2 OCA2 BLOC1S3
4 melanocyte differentiation GO:0030318 9.46 TYRP1 SLC24A5 OCA2 LRMDA
5 eye pigment biosynthetic process GO:0006726 9.43 TYR OCA2 GPR143
6 melanosome transport GO:0032402 9.4 GPR143 BLOC1S3
7 melanin biosynthetic process GO:0042438 9.26 TYRP1 TYR SLC45A2 OCA2
8 pigmentation GO:0043473 9.02 TYRP1 TYR OCA2 HPS3 BLOC1S3

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

# Name GO ID Score Top Affiliating Genes
1 monophenol monooxygenase activity GO:0004503 8.62 TYRP1 TYR

Sources for Albinism, Oculocutaneous, Type Ib

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....