OCA1B
MCID: ALB010
MIFTS: 52

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 39 70
Oca1b 57 12 20 58 72 54
Oculocutaneous Albinism Type 1b 20 58 29 6
Oculocutaneous Albinism Type Ib 12 72 15
Albinism, Yellow Mutant Type 57 12 20
Yellow Albinism 57 20 72
Albinism, Oculocutaneous, Type I, Temperature-Sensitive 70
Oculocutaneous Albinism Type 1, Temperature Sensitive 6
Temperature-Sensitive Oculocutaneous Albinism Type 1 58
Oculocutaneous Albinism Type I Temperature-Sensitive 72
Minimal Pigment Oculocutaneous Albinism 70
Oculocutaneous Albinism, Amish Type 58
Oculocutaneous Albinism, Type Ib 57
Platinum Oculocutaneous Albinism 58
Yellow Oculocutaneous Albinism 58
Albinism, Oculocutaneous, 1b 72
Albinism Yellow Mutant Type 72
Yellow Mutant Albinism 20
Ts Oca Type 1 58
Oca1-Ts 58
Oca-Its 72
Oca-Ib 72

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;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
highly variable phenotype that correlates with residual tyrosinase activity
previous clinical descriptions included minimal pigment oca, platinum oca, yellow oca, and temperature-sensitive oca
see also oca1a , an allelic disorder with complete absence of tyrosinase activity


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® 57 606952
OMIM Phenotypic Series 57 PS203100
MeSH 44 D016115
MESH via Orphanet 45 C537729
ICD10 via Orphanet 33 E70.3
UMLS via Orphanet 71 C1847024 C1847132
UMLS 70 C0342681 C1847024 C1847132

Summaries for Albinism, Oculocutaneous, Type Ib

GARD : 20 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.

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 Phenylalanine metabolism and Melanin biosynthesis. The drug Nitisinone has been mentioned in the context of this disorder. Affiliated tissues include skin and eye, 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® : 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) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 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
Oculocutaneous Albinism, Type Viii

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

(show all 50)
# Related Disease Score Top Affiliating Genes
1 albinism, oculocutaneous, type ia 29.2 TYRP1 TYR SLC45A2 SLC24A5 OCA2 LRMDA
2 albinism, oculocutaneous, type ii 28.7 TYRP1 TYR SLC45A2 SLC24A5 OCA2 MC1R
3 oculocutaneous albinism 28.3 TYRP1 TYR SLC45A2 SLC24A5 OCA2 MC1R
4 ocular albinism 28.3 TYRP1 TYR SLC45A2 SLC24A5 OCA2 LRMDA
5 albinism 27.9 TYRP1 TYR SLC45A2 SLC24A5 OCA2 MC1R
6 hypopigmentation of the skin 10.2
7 cataract 18 10.1 TYRP1 OCA2
8 dowling-degos disease 1 10.1 TYRP1 TYR
9 syndromic oculocutaneous albinism 10.1 SLC24A5 OCA2
10 amelanotic melanoma 10.1 TYRP1 TYR
11 nodular malignant melanoma 10.1 TYR MC1R
12 melanocytic nevus syndrome, congenital 10.0 TYR MC1R
13 anorexia nervosa 10.0
14 autoimmune disease of skin and connective tissue 10.0 TYRP1 TYR
15 nystagmus 7, congenital, autosomal dominant 10.0 TYR GPR143
16 nystagmus 2, congenital, autosomal dominant 10.0 TYR GPR143
17 keratosis, seborrheic 10.0 TYR MC1R
18 nystagmus 4, congenital, autosomal dominant 10.0 TYR GPR143
19 vogt-koyanagi-harada disease 10.0 TYRP1 TYR
20 melanoma in congenital melanocytic nevus 10.0 TYR MC1R
21 actinic keratosis 9.9 TYR MC1R
22 tietz albinism-deafness syndrome 9.9 TYRP1 TYR SLC45A2
23 skin/hair/eye pigmentation, variation in, 3 9.9
24 melanoma, cutaneous malignant 8 9.9
25 chediak-higashi syndrome 9.9 TYRP1 TYR
26 ichthyosis, congenital, autosomal recessive 11 9.9 SLC45A2 SLC24A5 OCA2
27 hermansky-pudlak syndrome 1 9.9 SLC45A2 SLC24A5 OCA2
28 ochronosis 9.9 TYRP1 TYR MC1R
29 vitiligo-associated multiple autoimmune disease susceptibility 1 9.8 TYRP1 TYR MC1R
30 autosomal recessive congenital ichthyosis 9.8 SLC45A2 SLC24A5 OCA2
31 acute contagious conjunctivitis 9.8 TYRP1 TYR SLC45A2 OCA2
32 acute conjunctivitis 9.8 TYRP1 TYR SLC45A2 OCA2
33 griscelli syndrome 9.8 TYRP1 TYR SLC45A2 OCA2
34 basal cell nevus syndrome 9.7 SLC45A2 MC1R
35 basal cell carcinoma 9.7 TYR SLC45A2 MC1R
36 congenital nystagmus 9.6 TYR OCA2 MC1R GPR143
37 strabismus 9.5 TYRP1 TYR SLC24A5 GPR143
38 piebald trait 9.5 TYRP1 TYR SLC45A2 OCA2 MC1R
39 waardenburg's syndrome 9.5 TYRP1 TYR SLC45A2 OCA2 MC1R
40 melanoma, cutaneous malignant 1 9.5 TYRP1 TYR SLC45A2 OCA2 MC1R
41 melanoma 9.5 TYRP1 TYR SLC45A2 OCA2 MC1R
42 skin melanoma 9.5 TYRP1 TYR SLC45A2 OCA2 MC1R
43 skin carcinoma 9.5 TYRP1 TYR SLC45A2 OCA2 MC1R
44 nystagmus 6, congenital, x-linked 9.2 TYRP1 TYR SLC45A2 OCA2 MC1R GPR143
45 albinism, oculocutaneous, type v 8.9 TYRP1 TYR SLC45A2 SLC24A5 OCA2 LRMDA
46 albinism, oculocutaneous, type vii 8.9 TYRP1 TYR SLC45A2 SLC24A5 OCA2 LRMDA
47 pathologic nystagmus 8.9 TYRP1 TYR SLC45A2 SLC24A5 OCA2 LRMDA
48 hermansky-pudlak syndrome 8.7 TYRP1 TYR SLC45A2 SLC24A5 OCA2 KXD1
49 albinism, oculocutaneous, type iv 8.7 TYRP1 TYR SLC45A2 SLC24A5 OCA2 MC1R
50 albinism, oculocutaneous, type iii 8.7 TYRP1 TYR SLC45A2 SLC24A5 OCA2 MC1R

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 melanoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002861
13 thickened skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0001072
14 squamous cell carcinoma of the skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0006739
15 basal cell carcinoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002671
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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
nystagmus
strabismus
foveal hypoplasia
decreased visual acuity
choroidal vessels visible
more
Skin Nails Hair Hair:
white or light yellow hair at birth
light blond to golden brown hair with age

Skin Nails Hair Skin:
white skin at birth
decreased skin pigmentation
tan with sun exposure (in some patients)
pigmented nevi and freckles (sun-exposed areas)

Clinical features from OMIM®:

606952 (Updated 05-Apr-2021)

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.91 LRMDA MC1R OCA2 SLC24A5 SLC45A2 TYR
2 craniofacial MP:0005382 9.72 MC1R OCA2 SLC24A5 TYR TYRP1
3 hearing/vestibular/ear MP:0005377 9.65 MC1R OCA2 SLC24A5 TYR TYRP1
4 integument MP:0010771 9.63 MC1R OCA2 SLC24A5 SLC45A2 TYR TYRP1
5 pigmentation MP:0001186 9.56 GPR143 KXD1 MC1R OCA2 SLC24A5 SLC45A2
6 vision/eye MP:0005391 9.17 GPR143 KXD1 OCA2 SLC24A5 SLC45A2 TYR

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 A Pilot Study of Nitisinone in the Treatment of Oculocutaneous Albinism, Type 1B 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:

40
Skin, Eye

Publications for Albinism, Oculocutaneous, Type Ib

Articles related to Albinism, Oculocutaneous, Type Ib:

(show top 50) (show all 51)
# Title Authors PMID Year
1
A new hypothesis of OCA1B. 6 57 61
18925668 2008
2
Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA). 57 6
9158138 1997
3
A nonsense mutation in the tyrosinase gene of Afghan patients with tyrosinase negative (type IA) oculocutaneous albinism. 6 57
1832718 1991
4
Temperature-sensitive tyrosinase associated with peripheral pigmentation in oculocutaneous albinism. 6 57
1900307 1991
5
Heterogeneity in Waardenburg's syndrome. Report of a family with ocular albinism. 57 6
666627 1978
6
Amish albinism: a distinctive autosomal recessive phenotype. 57 6
5516239 1970
7
Tyrosinase gene mutations in oculocutaneous albinism 1 (OCA1): definition of the phenotype. 6 61
13680365 2003
8
Retrospective analysis in oculocutaneous albinism patients for the 2.7 kb deletion in the OCA2 gene revealed a co-segregation of the controversial variant, p.R305W. 6
28451379 2017
9
DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics. 6
23504663 2013
10
Genotype analysis in a patient with oculocutaneous albinism 1 minimal pigment type. 6
21985232 2012
11
Oculocutaneous albinism spectrum. 6
19533789 2009
12
The R402Q tyrosinase variant does not cause autosomal recessive ocular albinism. 6
19208379 2009
13
Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type. 6
18463683 2008
14
ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinoma. 6
18488027 2008
15
Two newly identified genetic determinants of pigmentation in Europeans. 6
18488028 2008
16
A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients. 6
18326704 2008
17
Genetic determinants of hair, eye and skin pigmentation in Europeans. 6
17952075 2007
18
Positive angle kappa: a sign of albinism in patients with congenital nystagmus. 57
15059699 2004
19
Oculocutaneous albinism type 1: the last 100 years. 6
12753405 2003
20
A common temperature-sensitive allelic form of human tyrosinase is retained in the endoplasmic reticulum at the nonpermissive temperature. 6
10766867 2000
21
Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism. 6
7704033 1995
22
A frequent tyrosinase gene mutation associated with type I-A (tyrosinase-negative) oculocutaneous albinism in Puerto Rico. 6
8434585 1993
23
Mutational mapping of the catalytic activities of human tyrosinase. 6
1429711 1992
24
Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions. 6
1642278 1992
25
Tyrosinase gene mutations associated with type IB ("yellow") oculocutaneous albinism. 6
1903591 1991
26
Non-random distribution of missense mutations within the human tyrosinase gene in type I (tyrosinase-related) oculocutaneous albinism. 6
1943686 1991
27
Detection of mutations in the tyrosinase gene in a patient with type IA oculocutaneous albinism. 6
2342539 1990
28
A frequent tyrosinase gene mutation in classic, tyrosinase-negative (type IA) oculocutaneous albinism. 57
1970634 1990
29
Molecular basis of mouse Himalayan mutation. 6
2567165 1989
30
Minimal pigment: a new type of oculocutaneous albinism. 57
3081286 1986
31
Response to Warren's letter. 57
17948558 1981
32
Yellow mutant albinism: cytochemical, ultrastructural, and genetic characterization suggesting multiple allelism. 57
6770679 1980
33
Waardenburg's syndrome with fundus and other anomalies. 57
4958935 1966
34
Electron microscopic DOPA reaction test for oculocutaneous albinism. 61 54
10929771 2000
35
Functional in silico analysis of human tyrosinase and OCA1 associated mutations. 61
33458560 2020
36
Changes in refractive errors in albinism: a longitudinal study over the first decade of life. 61
30343058 2018
37
Minimal Efficacy of Nitisinone Treatment in a Novel Mouse Model of Oculocutaneous Albinism, Type 3. 61
30347088 2018
38
Dynamic analysis of human tyrosinase intra-melanosomal domain and mutant variants to further understand oculocutaneous albinism type 1. 61
30868138 2018
39
Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B). 61
28667292 2017
40
Oculocutaneous albinism type 1: link between mutations, tyrosinase conformational stability, and enzymatic activity. 61
27775880 2017
41
Functional assessment of tyrosinase variants identified in individuals with albinism is essential for unequivocal determination of genotype-to-phenotype correlation. 61
27537549 2016
42
A cross-sectional examination of visual acuity by specific type of albinism. 61
27647118 2016
43
Albinism-causing mutations in recombinant human tyrosinase alter intrinsic enzymatic activity. 61
24392141 2014
44
Mutational analysis of oculocutaneous albinism: a compact review. 61
25093188 2014
45
Refractive profile in oculocutaneous albinism and its correlation with final visual outcome. 61
22133989 2012
46
Oculocutaneous albinism type 1A: a case report. 61
19094851 2008
47
Oculocutaneous albinism. 61
17980020 2007
48
Molecular basis of oculocutaneous albinism type 1 in Lebanese patients. 61
15937636 2005
49
Oculocutaneous Albinism Type 1 – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY 61
20301345 2000
50
Mutations of the human tyrosinase gene associated with tyrosinase related oculocutaneous albinism (OCA1). Mutations in brief no. 204. Online. 61
10671066 1998

Variations for Albinism, Oculocutaneous, Type Ib

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

6 (show all 34)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TYR NM_000372.5(TYR):c.1265G>A (p.Arg422Gln) SNV Pathogenic 3782 rs61754393 GRCh37: 11:89018021-89018021
GRCh38: 11:89284853-89284853
2 TYR NM_000372.5(TYR):c.391_393del (p.Lys131del) Deletion Pathogenic 800539 GRCh37: 11:88911510-88911512
GRCh38: 11:89178342-89178344
3 TYR NM_000372.5(TYR):c.1185-2A>G SNV Pathogenic 800543 GRCh37: 11:89017939-89017939
GRCh38: 11:89284771-89284771
4 TYR NM_000372.5(TYR):c.1205G>A (p.Arg402Gln) SNV Pathogenic 3779 rs1126809 GRCh37: 11:89017961-89017961
GRCh38: 11:89284793-89284793
5 TYR NM_000372.5(TYR):c.1A>G (p.Met1Val) SNV Pathogenic 3807 rs28940881 GRCh37: 11:88911122-88911122
GRCh38: 11:89177954-89177954
6 TYR NM_000372.5(TYR):c.1147G>A (p.Asp383Asn) SNV Pathogenic 3775 rs121908011 GRCh37: 11:88961101-88961101
GRCh38: 11:89227933-89227933
7 TYR NM_000372.5(TYR):c.1147G>A (p.Asp383Asn) SNV Pathogenic 3775 rs121908011 GRCh37: 11:88961101-88961101
GRCh38: 11:89227933-89227933
8 TYR NM_000372.5(TYR):c.1199G>T (p.Trp400Leu) SNV Pathogenic 99541 rs62645916 GRCh37: 11:89017955-89017955
GRCh38: 11:89284787-89284787
9 TYR NM_000372.5(TYR):c.1A>G (p.Met1Val) SNV Pathogenic 3807 rs28940881 GRCh37: 11:88911122-88911122
GRCh38: 11:89177954-89177954
10 TYR NM_000372.5(TYR):c.164G>A (p.Cys55Tyr) SNV Pathogenic 3790 rs28940879 GRCh37: 11:88911285-88911285
GRCh38: 11:89178117-89178117
11 TYR NM_000372.5(TYR):c.346C>T (p.Arg116Ter) SNV Pathogenic 99565 rs61753256 GRCh37: 11:88911467-88911467
GRCh38: 11:89178299-89178299
12 TYR NM_000372.5(TYR):c.823G>T (p.Val275Phe) SNV Pathogenic 3773 rs104894314 GRCh37: 11:88924373-88924373
GRCh38: 11:89191205-89191205
13 TYR NM_000372.5(TYR):c.140G>A (p.Gly47Asp) SNV Pathogenic 3794 rs61753180 GRCh37: 11:88911261-88911261
GRCh38: 11:89178093-89178093
14 TYR NM_000372.5(TYR):c.1037-7T>A SNV Pathogenic 99527 rs61754381 GRCh37: 11:88960984-88960984
GRCh38: 11:89227816-89227816
15 TYR NM_000372.5(TYR):c.1118C>A (p.Thr373Lys) SNV Pathogenic 3774 rs61754388 GRCh37: 11:88961072-88961072
GRCh38: 11:89227904-89227904
16 TYR NM_000372.5(TYR):c.832C>T (p.Arg278Ter) SNV Pathogenic 99583 rs62645904 GRCh37: 11:88924382-88924382
GRCh38: 11:89191214-89191214
17 TYR NM_000372.5(TYR):c.242C>T (p.Pro81Leu) SNV Pathogenic 3772 rs28940876 GRCh37: 11:88911363-88911363
GRCh38: 11:89178195-89178195
18 TYR NM_000372.5(TYR):c.1056del (p.Gly353_Ile354insTer) Deletion Pathogenic 1027642 GRCh37: 11:88961010-88961010
GRCh38: 11:89227842-89227842
19 TYR NM_000372.5(TYR):c.1037-7T>A SNV Pathogenic 99527 rs61754381 GRCh37: 11:88960984-88960984
GRCh38: 11:89227816-89227816
20 TYR NM_000372.5(TYR):c.230G>A (p.Arg77Gln) SNV Pathogenic 3776 rs61753185 GRCh37: 11:88911351-88911351
GRCh38: 11:89178183-89178183
21 TYR NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) SNV Likely pathogenic 3777 rs104894313 GRCh37: 11:89017973-89017973
GRCh38: 11:89284805-89284805
22 TYR NM_000372.5(TYR):c.649C>T (p.Arg217Trp) SNV Likely pathogenic 3795 rs63159160 GRCh37: 11:88911770-88911770
GRCh38: 11:89178602-89178602
23 TYR NM_000372.5(TYR):c.823G>T (p.Val275Phe) SNV Likely pathogenic 3773 rs104894314 GRCh37: 11:88924373-88924373
GRCh38: 11:89191205-89191205
24 TYR NM_000372.5(TYR):c.140G>A (p.Gly47Asp) SNV Likely pathogenic 3794 rs61753180 GRCh37: 11:88911261-88911261
GRCh38: 11:89178093-89178093
25 TYR NM_000372.5(TYR):c.121G>A (p.Gly41Arg) SNV Likely pathogenic 689488 rs369291837 GRCh37: 11:88911242-88911242
GRCh38: 11:89178074-89178074
26 TYR NM_000372.5(TYR):c.1037G>A (p.Gly346Glu) SNV Likely pathogenic 617799 rs773970123 GRCh37: 11:88960991-88960991
GRCh38: 11:89227823-89227823
27 TYR NM_000372.5(TYR):c.551C>G (p.Ser184Ter) SNV Likely pathogenic 144105 rs367543066 GRCh37: 11:88911672-88911672
GRCh38: 11:89178504-89178504
28 TYR NM_000372.5(TYR):c.1205G>A (p.Arg402Gln) SNV Conflicting interpretations of pathogenicity 3779 rs1126809 GRCh37: 11:89017961-89017961
GRCh38: 11:89284793-89284793
29 TYR NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) SNV Conflicting interpretations of pathogenicity 3777 rs104894313 GRCh37: 11:89017973-89017973
GRCh38: 11:89284805-89284805
30 TYR NM_000372.5(TYR):c.649C>T (p.Arg217Trp) SNV Uncertain significance 3795 rs63159160 GRCh37: 11:88911770-88911770
GRCh38: 11:89178602-89178602
31 TYR NM_000372.5(TYR):c.915C>A (p.Asp305Glu) SNV Uncertain significance 418532 rs142170797 GRCh37: 11:88924465-88924465
GRCh38: 11:89191297-89191297
32 TYR NM_000372.5(TYR):c.1366+4A>G SNV Uncertain significance 99548 rs61754398 GRCh37: 11:89018126-89018126
GRCh38: 11:89284958-89284958
33 TYR NM_000372.5(TYR):c.739T>C (p.Cys247Arg) SNV not provided 144106 rs367543068 GRCh37: 11:88911860-88911860
GRCh38: 11:89178692-89178692
34 TYR NM_000372.5(TYR):c.163T>G (p.Cys55Gly) SNV not provided 144104 rs367543067 GRCh37: 11:88911284-88911284
GRCh38: 11:89178116-89178116

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

72
# 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 COSM136837388 YES1 skin,eye,carcinoma,squamous cell carcinoma c.866G>A p.G289E 18:743289-743289 12
3 COSM89895645 YES1 skin,eye,carcinoma,squamous cell carcinoma c.851G>A p.G284E 18:743289-743289 12
4 COSM150677496 TSC1 skin,eye,carcinoma,squamous cell carcinoma c.2050C>T p.R684C 9:132903794-132903794 12
5 COSM85720102 TSC1 skin,eye,carcinoma,squamous cell carcinoma c.2065C>T p.R689C 9:132903794-132903794 12
6 COSM149039828 TSC1 skin,eye,carcinoma,squamous cell carcinoma c.2062C>T p.R688C 9:132903794-132903794 12
7 COSM150537076 TSC1 skin,eye,carcinoma,squamous cell carcinoma c.1912C>T p.R638C 9:132903794-132903794 12
8 COSM151334154 TSC1 skin,eye,carcinoma,squamous cell carcinoma c.2065C>T p.R689C 9:132903794-132903794 12
9 COSM111041127 TSC1 skin,eye,carcinoma,squamous cell carcinoma c.2065C>T p.R689C 9:132903794-132903794 12
10 COSM147983627 TSC1 skin,eye,carcinoma,squamous cell carcinoma c.2062C>T p.R688C 9:132903794-132903794 12
11 COSM148035069 TSC1 skin,eye,carcinoma,squamous cell carcinoma c.2047C>T p.R683C 9:132903794-132903794 12
12 COSM151875202 TSC1 skin,eye,carcinoma,squamous cell carcinoma c.2065C>T p.R689C 9:132903794-132903794 12
13 COSM133087519 TSC1 skin,eye,carcinoma,squamous cell carcinoma c.1912C>T p.R638C 9:132903794-132903794 12
14 COSM90145852 TRAF7 skin,eye,carcinoma,squamous cell carcinoma c.349G>A p.E117K 16:2171264-2171264 12
15 COSM122734157 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.164G>A p.G55D 17:7674971-7674971 12
16 COSM144652296 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.469C>T p.R157* 17:7674945-7674945 12
17 COSM121899015 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.163+2T>A p.? 17:7675051-7675051 12
18 COSM145025490 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.682C>T p.R228W 17:7673821-7673821 12
19 COSM144020497 TP53 skin,eye,carcinoma,squamous cell carcinoma c.806G>C p.R269T 17:7673781-7673781 12
20 COSM93228649 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.724T>G p.C242G 17:7674239-7674239 12
21 COSM142560348 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.605C>T p.S202F 17:7674241-7674241 12
22 COSM145018520 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.461A>T p.H154L 17:7674953-7674953 12
23 COSM122271355 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.305A>G p.Y102C 17:7674262-7674262 12
24 COSM143174513 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.344T>C p.V115A 17:7673799-7673799 12
25 COSM144311933 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.520C>T p.R174* 17:7674894-7674894 12
26 COSM144313019 TP53 skin,eye,carcinoma,squamous cell carcinoma c.470G>T p.R157L 17:7674944-7674944 12
27 COSM143944858 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.109C>T p.R37* 17:7674945-7674945 12
28 COSM143950313 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.322C>T p.R108W 17:7673821-7673821 12
29 COSM112415277 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.766A>G p.T256A 17:7674197-7674197 12
30 COSM122740947 TP53 skin,eye,carcinoma,squamous cell carcinoma c.443G>C p.R148T 17:7673781-7673781 12
31 COSM144120595 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.247T>G p.C83G 17:7674239-7674239 12
32 COSM143944164 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.340C>T p.R114C 17:7673803-7673803 12
33 COSM87923542 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.559+2T>A p.? 17:7675051-7675051 12
34 COSM144679872 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.239C>T p.A80V 17:7676013-7676013 12
35 COSM111759858 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.856G>A p.E286K 17:7673764-7673764 12
36 COSM112255322 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.637C>T p.R213* 17:7674894-7674894 12
37 COSM143372968 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.520C>T p.R174* 17:7674894-7674894 12
38 COSM142837664 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.560-1G>A p.? 17:7674972-7674972 12
39 COSM122737048 TP53 skin,eye,carcinoma,squamous cell carcinoma c.191G>T p.R64L 17:7674944-7674944 12
40 COSM142567276 TP53 skin,eye,carcinoma,squamous cell carcinoma c.722G>C p.R241T 17:7673781-7673781 12
41 COSM143944281 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.83-1G>A p.? 17:7674972-7674972 12
42 COSM122273553 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.241C>T p.R81* 17:7674894-7674894 12
43 COSM143389462 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.418C>A p.H140N 17:7675077-7675077 12
44 COSM111760544 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.637C>T p.R213* 17:7674894-7674894 12
45 COSM145017624 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.443G>A p.G148D 17:7674971-7674971 12
46 COSM121878773 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.241C>T p.R81* 17:7674894-7674894 12
47 COSM122750905 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.139C>A p.H47N 17:7675077-7675077 12
48 COSM143946062 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.160C>T p.R54* 17:7674894-7674894 12
49 COSM122288277 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.139C>A p.H47N 17:7675077-7675077 12
50 COSM121877621 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.190C>T p.R64* 17:7674945-7674945 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
10.86 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 9.43 TYR KXD1 GPR143
2 lysosomal membrane GO:0005765 9.33 OCA2 KXD1 GPR143
3 melanosome GO:0042470 9.26 TYRP1 TYR SLC24A5 GPR143
4 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 9.58 TYR SLC45A2 GPR143
2 pigmentation GO:0043473 9.56 TYRP1 TYR OCA2 MC1R
3 melanosome organization GO:0032438 9.37 TYRP1 GPR143
4 eye pigment biosynthetic process GO:0006726 9.33 TYR OCA2 GPR143
5 developmental pigmentation GO:0048066 9.32 SLC45A2 OCA2
6 melanocyte differentiation GO:0030318 9.26 TYRP1 SLC24A5 OCA2 LRMDA
7 melanin biosynthetic process GO:0042438 9.02 TYRP1 TYR SLC45A2 OCA2 MC1R

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 8.96 TYRP1 TYR
2 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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