OCA4
MCID: ALB019
MIFTS: 48

Albinism, Oculocutaneous, Type Iv (OCA4)

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

Aliases & Classifications for Albinism, Oculocutaneous, Type Iv

MalaCards integrated aliases for Albinism, Oculocutaneous, Type Iv:

Name: Albinism, Oculocutaneous, Type Iv 56 39
Oca4 56 12 24 58 73
Oculocutaneous Albinism Type 4 24 58 29 6
Oculocutaneous Albinism, Type Iv 56 13 71
Oculocutaneous Albinism Type Iv 12 73 15
Albinism, Oculocutaneous, 4 73

Characteristics:

Orphanet epidemiological data:

58
oculocutaneous albinism type 4
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype with regard to pigmentation
pigmentation does not change with age


HPO:

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


Classifications:

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


External Ids:

Disease Ontology 12 DOID:0070098
OMIM 56 606574
OMIM Phenotypic Series 56 PS203100
MeSH 43 D016115
ICD10 via Orphanet 33 E70.3
UMLS via Orphanet 72 C1847836
Orphanet 58 ORPHA79435
MedGen 41 C1847836
UMLS 71 C1847836

Summaries for Albinism, Oculocutaneous, Type Iv

UniProtKB/Swiss-Prot : 73 Albinism, oculocutaneous, 4: A disorder of pigmentation characterized by reduced biosynthesis of melanin in the skin, hair and eyes. Patients show reduced or lacking pigmentation associated with classic albinism ocular abnormalities, including decreased visual acuity, macular hypoplasia, optic dysplasia, atypical choroidal vessels, and nystagmus.

MalaCards based summary : Albinism, Oculocutaneous, Type Iv, also known as oca4, is related to strabismus and skin carcinoma. An important gene associated with Albinism, Oculocutaneous, Type Iv is SLC45A2 (Solute Carrier Family 45 Member 2), and among its related pathways/superpathways are Aldosterone synthesis and secretion and Tyrosine metabolism. Affiliated tissues include skin, eye and testes, and related phenotypes are strabismus and albinism

Disease Ontology : 12 An oculocutaneous albinism that has material basis in an autosomal recessive mutation of SLC45A2 on chromosome 5p13.2.

More information from OMIM: 606574 PS203100
GeneReviews: NBK1510

Related Diseases for Albinism, Oculocutaneous, Type Iv

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 Iv via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 44)
# Related Disease Score Top Affiliating Genes
1 strabismus 29.8 TYRP1 TYR SLC24A5 GPR143
2 skin carcinoma 29.6 TYRP1 TYR MC1R ASIP
3 microphthalmia 29.5 TYRP1 TYR MC1R DCT
4 albinism 29.2 TYRP1 TYR SLC45A2 SLC24A5 OCA2 MC1R
5 melanoma 29.2 TYRP1 TYR SLC45A2 OCA2 MC1R DCT
6 albinism, oculocutaneous, type ia 28.5 TYRP1 TYR SLC45A2 SLC24A5 OCA2 LRMDA
7 pathologic nystagmus 27.9 TYRP1 TYR SLC45A2 SLC24A5 OCA2 LRMDA
8 albinism, oculocutaneous, type ii 27.7 TYRP1 TYR SLC45A2 SLC24A5 SLC24A4 OCA2
9 oculocutaneous albinism 26.3 TYRP1 TYR SLC45A2 SLC24A5 SLC24A4 OCA2
10 autosomal recessive disease 10.2
11 hypopigmentation of the skin 10.2
12 alpha-methylacyl-coa racemase deficiency 10.2
13 melanoma, cutaneous malignant 10 10.2
14 refractive error 10.2
15 dowling-degos disease 1 10.2 TYRP1 TYR
16 mechanical strabismus 10.1
17 ichthyosis, congenital, autosomal recessive 11 10.1 SLC45A2 SLC24A5 OCA2
18 aland island eye disease 10.0 SLC24A5 LRMDA GPR143
19 melanocytic nevus syndrome, congenital 10.0 TYR MC1R
20 nodular malignant melanoma 10.0 TYR MC1R
21 lentigines 9.9 TYR MC1R
22 amelanotic melanoma 9.9 TYRP1 TYR DCT
23 acute contagious conjunctivitis 9.9 TYRP1 TYR SLC45A2 OCA2
24 ochronosis 9.9 TYRP1 TYR MC1R
25 autosomal recessive congenital ichthyosis 9.9 SLC45A2 SLC24A5 OCA2
26 acute conjunctivitis 9.9 TYRP1 TYR SLC45A2 OCA2
27 chediak-higashi syndrome 9.9 TYRP1 TYR DCT
28 waardenburg's syndrome 9.9 TYRP1 TYR DCT
29 storage pool platelet disease 9.9 HPS6 BLOC1S3
30 tietz albinism-deafness syndrome 9.8 TYRP1 TYR SLC45A2 DCT
31 congenital nystagmus 9.7 TYR OCA2 MC1R GPR143
32 melanoma in congenital melanocytic nevus 9.7 TYR MC1R
33 autoimmune disease of skin and connective tissue 9.6 TYRP1 TYR MC1R DCT
34 vitiligo-associated multiple autoimmune disease susceptibility 1 9.6 TYRP1 TYR MC1R DCT
35 albinism, oculocutaneous, type vii 9.5 TYRP1 SLC45A2 SLC24A5 OCA2 LRMDA GPR143
36 melanoma, uveal 9.5 TYR MC1R DCT
37 syndromic oculocutaneous albinism 9.3 SLC24A5 SLC24A4 OCA2 HPS6
38 albinism, oculocutaneous, type v 9.3 TYRP1 TYR SLC45A2 SLC24A5 OCA2 LRMDA
39 piebald trait 9.3 TYRP1 TYR SLC45A2 OCA2 MC1R DCT
40 ocular albinism 8.9 TYRP1 TYR SLC45A2 SLC24A5 OCA2 LRMDA
41 hermansky-pudlak syndrome 8.8 TYRP1 TYR SLC45A2 OCA2 HPS6 DCT
42 albinism, oculocutaneous, type ib 8.5 TYRP1 TYR SLC45A2 SLC24A5 OCA2 MC1R
43 melanoma, cutaneous malignant 1 8.4 TYRP1 TYR SLC45A2 SLC24A4 OCA2 MC1R
44 albinism, oculocutaneous, type iii 7.5 TYRP1 TYR SLC45A2 SLC24A5 OCA2 MC1R

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



Diseases related to Albinism, Oculocutaneous, Type Iv

Symptoms & Phenotypes for Albinism, Oculocutaneous, Type Iv

Human phenotypes related to Albinism, Oculocutaneous, Type Iv:

58 31 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 strabismus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000486
2 albinism 58 31 hallmark (90%) Very frequent (99-80%) HP:0001022
3 visual impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000505
4 photophobia 58 31 frequent (33%) Frequent (79-30%) HP:0000613
5 nystagmus 58 31 very rare (1%) Frequent (79-30%) HP:0000639
6 thickened skin 58 31 frequent (33%) Frequent (79-30%) HP:0001072
7 iris hypopigmentation 58 31 frequent (33%) Frequent (79-30%) HP:0007730
8 abnormality of the optic nerve 58 31 frequent (33%) Frequent (79-30%) HP:0000587
9 melanoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002861
10 basal cell carcinoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002671
11 squamous cell carcinoma of the skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0006739
12 hypoplasia of the fovea 58 31 occasional (7.5%) Occasional (29-5%) HP:0007750
13 blue irides 31 HP:0000635
14 hypopigmentation of hair 58 Very frequent (99-80%)
15 hypopigmentation of the fundus 31 HP:0007894
16 macular hypoplasia 31 HP:0001104
17 hypopigmentation of the skin 58 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
nystagmus
strabismus
optic nerve dysplasia
decreased visual acuity
decreased iris pigment
more
Skin Nails Hair Hair:
silver to white to yellow hair

Skin Nails Hair Skin:
hypopigmentation

Clinical features from OMIM:

606574

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

45 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.22 ASIP BLOC1S3 G6PC3 HPS6 MC1R OCA2
2 behavior/neurological MP:0005386 10.21 ASIP BLOC1S3 HPS6 LRMDA MC1R OCA2
3 craniofacial MP:0005382 10.15 ASIP BLOC1S3 HPS6 MC1R OCA2 SLC24A4
4 homeostasis/metabolism MP:0005376 10.1 ASIP DCT G6PC3 HPS6 OCA2 SLC24A4
5 hearing/vestibular/ear MP:0005377 10.06 ASIP BLOC1S3 HPS6 MC1R OCA2 SLC24A5
6 hematopoietic system MP:0005397 10.03 ASIP BLOC1S3 G6PC3 HPS6 MC1R OCA2
7 integument MP:0010771 10.02 ASIP BLOC1S3 DCT HPS6 MC1R OCA2
8 immune system MP:0005387 9.97 ASIP BLOC1S3 G6PC3 HPS6 MC1R OCA2
9 nervous system MP:0003631 9.76 ASIP DCT GPR143 HPS6 SLC24A4 SLC24A5
10 pigmentation MP:0001186 9.7 ASIP BLOC1S3 DCT GPR143 HPS6 MC1R
11 limbs/digits/tail MP:0005371 9.65 ASIP BLOC1S3 MC1R OCA2 TYR
12 vision/eye MP:0005391 9.32 ASIP BLOC1S3 DCT GPR143 HPS6 OCA2

Drugs & Therapeutics for Albinism, Oculocutaneous, Type Iv

Search Clinical Trials , NIH Clinical Center for Albinism, Oculocutaneous, Type Iv

Genetic Tests for Albinism, Oculocutaneous, Type Iv

Genetic tests related to Albinism, Oculocutaneous, Type Iv:

# Genetic test Affiliating Genes
1 Oculocutaneous Albinism Type 4 29 SLC45A2

Anatomical Context for Albinism, Oculocutaneous, Type Iv

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

40
Skin, Eye, Testes

Publications for Albinism, Oculocutaneous, Type Iv

Articles related to Albinism, Oculocutaneous, Type Iv:

(show top 50) (show all 62)
# Title Authors PMID Year
1
OCA4: evidence for a founder effect for the p.D157N mutation of the MATP gene in Japanese and Korean. 56 24 6 61
16162179 2005
2
Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan. 61 56 6 24
14961451 2004
3
Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4. 56 61 24 6
14722913 2004
4
Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4. 6 61 24 56
11574907 2001
5
Is autosomal recessive deafness associated with oculocutaneous albinism a "coincidence syndrome"? 61 6
16868655 2006
6
Oculocutaneous Albinism Type 4 6 61
20301683 2005
7
A Japanese Family With Autosomal Dominant Oculocutaneous Albinism Type 4. 24 61
28192564 2017
8
Membrane-Associated Transporter Protein (MATP) Regulates Melanosomal pH and Influences Tyrosinase Activity. 24 61
26057890 2015
9
Oculocutaneous albinism type IV: A boy of Moroccan descent with a novel mutation in SLC45A2. 24 61
19610114 2009
10
Recent advances in genetic analyses of oculocutaneous albinism types 2 and 4. 24 61
18407468 2008
11
SLC45A2 variations in Indian oculocutaneous albinism patients. 61 24
17768386 2007
12
Tyrosinase processing and intracellular trafficking is disrupted in mouse primary melanocytes carrying the underwhite (uw) mutation. A model for oculocutaneous albinism (OCA) type 4. 61 24
12829739 2003
13
RECESSIVE TOTAL ALBINISM AND CONGENITAL DEAF-MUTISM. 6
14070830 1964
14
Clinical evaluation and molecular screening of a large consecutive series of albino patients. 24
27734839 2017
15
Skin cancers among Albinos at a University teaching hospital in Northwestern Tanzania: a retrospective review of 64 cases. 24
22681652 2012
16
Implementation of an optimized strategy for genetic testing of the Chinese patients with oculocutaneous albinism. 24
21458243 2011
17
Skin cancers amongst four Nigerian albinos. 24
19538377 2009
18
Albinism: classification, clinical characteristics, and recent findings. 24
19390472 2009
19
Birth prevalence and mutation spectrum in danish patients with autosomal recessive albinism. 24
19060277 2009
20
Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type. 24
18463683 2008
21
Molecular diagnosis of oculocutaneous albinism: new mutations in the OCA1-4 genes and practical aspects. 24
18821858 2008
22
Meningococccal meningitis and complement component 6 deficiency associated with oculocutaneous albinism. 24
15565285 2005
23
A Korean case of oculocutaneous albinism type IV caused by a D157N mutation in the MATP gene. 24
15656822 2005
24
The etiology of oculocutaneous albinism (OCA) type II: the pink protein modulates the processing and transport of tyrosinase. 24
12028586 2002
25
Malignant melanoma in a patient with oculocutaneous albinism. 24
11003720 2000
26
Pheomelanin as well as eumelanin is present in human epidermis. 24
2071942 1991
27
Whole exome sequencing identifies a novel pathogenic variation [p.(Gly194valfs*7)] in SLC45A2 in the homozygous state in multiple members of a family with oculocutaneous albinism in southern India. 61
31630438 2020
28
Comprehensive analysis of spectral distribution of a large cohort of Chinese patients with non-syndromic oculocutaneous albinism facilitates genetic diagnosis. 61
31077556 2019
29
A 4-bp deletion promoter variant (rs984225803) is associated with mild OCA4 among Japanese patients. 61
30019506 2019
30
A single base deletion in the SLC45A2 gene in a Bullmastiff with oculocutaneous albinism. 61
28737247 2017
31
Delineating the genetic heterogeneity of OCA in Hungarian patients. 61
28629449 2017
32
Identification of two novel mutations in the SLC45A2 gene in a Hungarian pedigree affected by unusual OCA type 4. 61
28298193 2017
33
Mutational Analysis on Membrane Associated Transporter Protein (MATP) and Their Structural Consequences in Oculocutaeous Albinism Type 4 (OCA4)-A Molecular Dynamics Approach. 61
27019209 2016
34
Mutational spectrum of the TYR and SLC45A2 genes in Pakistani families with oculocutaneous albinism, and potential founder effect of missense substitution (p.Arg77Gln) of tyrosinase. 61
25703744 2015
35
Two novel splicing mutations in the SLC45A2 gene cause Oculocutaneous Albinism Type IV by unmasking cryptic splice sites. 61
26016411 2015
36
Investigating polymorphisms in membrane-associated transporter protein SLC45A2, using sucrose transporters as a model. 61
25760657 2015
37
Oculocutaneous albinism: developing novel antibodies targeting the proteins associated with OCA2 and OCA4. 61
25530116 2015
38
SLC45A2 mutation frequency in Oculocutaneous Albinism Italian patients doesn't differ from other European studies. 61
24096233 2014
39
A partial gene deletion of SLC45A2 causes oculocutaneous albinism in Doberman pinscher dogs. 61
24647637 2014
40
Mutational analysis of oculocutaneous albinism: a compact review. 61
25093188 2014
41
The genome sequencing of an albino Western lowland gorilla reveals inbreeding in the wild. 61
23721540 2013
42
Albinism in Europe. 61
23668539 2013
43
Slc45a2 and V-ATPase are regulators of melanosomal pH homeostasis in zebrafish, providing a mechanism for human pigment evolution and disease. 61
23205854 2013
44
Adult siblings with homozygous G6PC3 mutations expand our understanding of the severe congenital neutropenia type 4 (SCN4) phenotype. 61
23171239 2012
45
Mutation spectrum of the TYR and SLC45A2 genes in patients with oculocutaneous albinism. 61
22294196 2012
46
[Identification of a novel pathogenic mutation in MATP gene with oculocutaneous albinism type IV from a consanguineous marriage family]. 61
22490798 2012
47
Molecular analysis of Korean patients with oculocutaneous albinism. 61
22042571 2012
48
Oculocutaneous albinism type 3 (OCA3): analysis of two novel mutations in TYRP1 gene in two Chinese patients. 61
21739261 2011
49
Informed reasoning: repositioning of nitisinone to treat oculocutaneous albinism. 61
21968107 2011
50
Phylogenetic and genetic linkage between novel atypical dual-specificity phosphatases from non-metazoan organisms. 61
21409566 2011

Variations for Albinism, Oculocutaneous, Type Iv

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

6 (show top 50) (show all 60) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC45A2 NM_016180.5(SLC45A2):c.1368+1G>TSNV Pathogenic 436759 rs1294369944 5:33947267-33947267 5:33947162-33947162
2 SLC45A2 NM_016180.5(SLC45A2):c.210C>A (p.Tyr70Ter)SNV Pathogenic 436760 rs562624441 5:33984479-33984479 5:33984374-33984374
3 SLC45A2 NM_016180.5(SLC45A2):c.986del (p.Thr329fs)deletion Pathogenic 4500 rs387906317 5:33954512-33954512 5:33954407-33954407
4 SLC45A2 NM_016180.5(SLC45A2):c.656_658TCT[2] (p.Phe221del)short repeat Pathogenic 4501 rs387906318 5:33964020-33964022 5:33963915-33963917
5 SLC45A2 NM_016180.5(SLC45A2):c.1457C>T (p.Ala486Val)SNV Pathogenic 4502 rs121912620 5:33944889-33944889 5:33944784-33944784
6 SLC45A2 NM_016180.5(SLC45A2):c.469G>A (p.Asp157Asn)SNV Pathogenic 4503 rs121912621 5:33982434-33982434 5:33982329-33982329
7 SLC45A2 NM_016180.5(SLC45A2):c.563-1G>ASNV Pathogenic 4498 rs730880270 5:33964122-33964122 5:33964017-33964017
8 SLC45A2 NM_016180.5(SLC45A2):c.1121del (p.Leu374fs)deletion Pathogenic 4506 rs730880271 5:33951694-33951694 5:33951589-33951589
9 SLC45A2 NM_016180.5(SLC45A2):c.1273del (p.Leu425fs)deletion Pathogenic 209971 rs759411189 5:33947363-33947363 5:33947258-33947258
10 SLC45A2 NM_016180.5(SLC45A2):c.163dup (p.Tyr55fs)duplication Pathogenic 374397 rs1057518722 5:33984525-33984526 5:33984420-33984421
11 SLC45A2 NM_016180.5(SLC45A2):c.264del (p.Gly89fs)deletion Pathogenic/Likely pathogenic 242518 rs775387808 5:33984425-33984425 5:33984320-33984320
12 SLC45A2 NM_016180.5(SLC45A2):c.578T>G (p.Leu193Arg)SNV Likely pathogenic 212206 rs797045970 5:33964106-33964106 5:33964001-33964001
13 SLC45A2 NM_016180.5(SLC45A2):c.191G>T (p.Gly64Val)SNV Likely pathogenic 627610 5:33984498-33984498 5:33984393-33984393
14 SLC45A2 NM_016180.5(SLC45A2):c.149C>A (p.Ala50Glu)SNV Likely pathogenic 627608 5:33984540-33984540 5:33984435-33984435
15 SLC45A2 NM_016180.5(SLC45A2):c.834C>T (p.Tyr278=)SNV Conflicting interpretations of pathogenicity 731354 5:33963850-33963850 5:33963745-33963745
16 SLC45A2 NM_016180.5(SLC45A2):c.264C>G (p.Val88=)SNV Conflicting interpretations of pathogenicity 758673 5:33984425-33984425 5:33984320-33984320
17 SLC45A2 NM_016180.5(SLC45A2):c.606G>C (p.Trp202Cys)SNV Conflicting interpretations of pathogenicity 521031 rs146802593 5:33964078-33964078 5:33963973-33963973
18 SLC45A2 NM_016180.5(SLC45A2):c.1074_1075AG[1] (p.Glu359fs)short repeat Conflicting interpretations of pathogenicity 353216 rs753485165 5:33951738-33951739 5:33951633-33951634
19 SLC45A2 NM_016180.5(SLC45A2):c.1157-10C>TSNV Conflicting interpretations of pathogenicity 260690 rs371152353 5:33947489-33947489 5:33947384-33947384
20 SLC45A2 NM_016180.5(SLC45A2):c.1352G>A (p.Arg451His)SNV Uncertain significance 284405 rs142680641 5:33947284-33947284 5:33947179-33947179
21 SLC45A2 NM_016180.5(SLC45A2):c.1533G>A (p.Ala511=)SNV Uncertain significance 353211 rs373174326 5:33944813-33944813 5:33944708-33944708
22 SLC45A2 NM_016180.5(SLC45A2):c.232C>A (p.Pro78Thr)SNV Uncertain significance 353220 rs886060520 5:33984457-33984457 5:33984352-33984352
23 SLC45A2 NM_016180.5(SLC45A2):c.1090G>A (p.Glu364Lys)SNV Uncertain significance 353214 rs201140684 5:33951725-33951725 5:33951620-33951620
24 SLC45A2 NM_016180.5(SLC45A2):c.372T>A (p.Ala124=)SNV Uncertain significance 353219 rs886060519 5:33984317-33984317 5:33984212-33984212
25 SLC45A2 NM_016180.5(SLC45A2):c.1351C>T (p.Arg451Cys)SNV Uncertain significance 353212 rs142175557 5:33947285-33947285 5:33947180-33947180
26 SLC45A2 NM_016180.5(SLC45A2):c.1156+7C>TSNV Uncertain significance 353213 rs767910207 5:33951652-33951652 5:33951547-33951547
27 SLC45A2 NM_016180.5(SLC45A2):c.1089C>T (p.Tyr363=)SNV Uncertain significance 353215 rs148156477 5:33951726-33951726 5:33951621-33951621
28 SLC45A2 NM_016180.5(SLC45A2):c.627A>G (p.Arg209=)SNV Uncertain significance 353218 rs755956613 5:33964057-33964057 5:33963952-33963952
29 SLC45A2 NM_016180.5(SLC45A2):c.1518C>T (p.Val506=)SNV Uncertain significance 436756 rs150473213 5:33944828-33944828 5:33944723-33944723
30 SLC45A2 NM_016180.5(SLC45A2):c.187G>T (p.Val63Leu)SNV Uncertain significance 627609 5:33984502-33984502 5:33984397-33984397
31 SLC45A2 NM_016180.5(SLC45A2):c.1567_1574dup (p.Phe525fs)duplication Uncertain significance 632460 rs780732891 5:33944771-33944772 5:33944666-33944667
32 SLC45A2 NM_016180.5(SLC45A2):c.1325C>T (p.Pro442Leu)SNV Uncertain significance 212205 rs769448704 5:33947311-33947311 5:33947206-33947206
33 SLC45A2 NM_016180.5(SLC45A2):c.1082T>C (p.Leu361Pro)SNV Uncertain significance 4499 rs121912619 5:33951733-33951733 5:33951628-33951628
34 SLC45A2 NM_016180.5(SLC45A2):c.*1G>ASNV Uncertain significance 906957 5:33944752-33944752 5:33944647-33944647
35 SLC45A2 NM_016180.5(SLC45A2):c.1519G>C (p.Val507Leu)SNV Uncertain significance 906958 5:33944827-33944827 5:33944722-33944722
36 SLC45A2 NM_016180.5(SLC45A2):c.1516G>A (p.Val506Ile)SNV Uncertain significance 906959 5:33944830-33944830 5:33944725-33944725
37 SLC45A2 NM_016180.5(SLC45A2):c.1251C>G (p.Leu417=)SNV Uncertain significance 907928 5:33947385-33947385 5:33947280-33947280
38 SLC45A2 NM_016180.5(SLC45A2):c.1235C>T (p.Thr412Met)SNV Uncertain significance 907929 5:33947401-33947401 5:33947296-33947296
39 SLC45A2 NM_016180.5(SLC45A2):c.1233G>A (p.Gly411=)SNV Uncertain significance 907930 5:33947403-33947403 5:33947298-33947298
40 SLC45A2 NM_016180.5(SLC45A2):c.1208C>T (p.Thr403Met)SNV Uncertain significance 907931 5:33947428-33947428 5:33947323-33947323
41 SLC45A2 NM_016180.5(SLC45A2):c.1042C>T (p.Arg348Cys)SNV Uncertain significance 904628 5:33951773-33951773 5:33951668-33951668
42 SLC45A2 NM_016180.5(SLC45A2):c.986C>T (p.Thr329Ile)SNV Uncertain significance 904629 5:33954512-33954512 5:33954407-33954407
43 SLC45A2 NM_016180.5(SLC45A2):c.799G>A (p.Glu267Lys)SNV Uncertain significance 905420 5:33963885-33963885 5:33963780-33963780
44 SLC45A2 NM_016180.5(SLC45A2):c.773C>T (p.Pro258Leu)SNV Uncertain significance 905421 5:33963911-33963911 5:33963806-33963806
45 SLC45A2 NM_016180.5(SLC45A2):c.602A>G (p.Asp201Gly)SNV Uncertain significance 905422 5:33964082-33964082 5:33963977-33963977
46 SLC45A2 NM_016180.5(SLC45A2):c.528G>A (p.Lys176=)SNV Uncertain significance 905423 5:33982375-33982375 5:33982270-33982270
47 SLC45A2 NM_016180.5(SLC45A2):c.432C>T (p.Val144=)SNV Uncertain significance 905424 5:33982471-33982471 5:33982366-33982366
48 SLC45A2 NM_016180.5(SLC45A2):c.324C>G (p.Thr108=)SNV Uncertain significance 905934 5:33984365-33984365 5:33984260-33984260
49 SLC45A2 NM_016180.5(SLC45A2):c.310C>T (p.Pro104Ser)SNV Uncertain significance 905935 5:33984379-33984379 5:33984274-33984274
50 SLC45A2 NM_016180.5(SLC45A2):c.287G>C (p.Arg96Pro)SNV Uncertain significance 905936 5:33984402-33984402 5:33984297-33984297

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

73 (show all 21)
# Symbol AA change Variation ID SNP ID
1 SLC45A2 p.Pro58Ala VAR_022710 rs129058460
2 SLC45A2 p.Pro58Ser VAR_022711
3 SLC45A2 p.Asp157Asn VAR_022712 rs121912621
4 SLC45A2 p.Gly188Val VAR_022713
5 SLC45A2 p.Trp202Cys VAR_022714 rs146802593
6 SLC45A2 p.Tyr317Cys VAR_022717
7 SLC45A2 p.Leu361Pro VAR_022718 rs121912619
8 SLC45A2 p.Ala477Thr VAR_022719 rs135299911
9 SLC45A2 p.Ala486Val VAR_022720 rs121912620
10 SLC45A2 p.Met42Ile VAR_067071
11 SLC45A2 p.Gly64Ser VAR_067072
12 SLC45A2 p.Thr302Ser VAR_067073 rs553073635
13 SLC45A2 p.Arg348Cys VAR_067074 rs372465070
14 SLC45A2 p.Leu60Arg VAR_072602 rs925113610
15 SLC45A2 p.Gly110Arg VAR_073166 rs762813061
16 SLC45A2 p.Leu151Pro VAR_073167
17 SLC45A2 p.Asp160His VAR_073168 rs760780597
18 SLC45A2 p.His233Gln VAR_073169
19 SLC45A2 p.Gly349Arg VAR_073170 rs146930801
20 SLC45A2 p.Glu368Lys VAR_073171 rs130713718
21 SLC45A2 p.Phe418Leu VAR_073172 rs144503724

Expression for Albinism, Oculocutaneous, Type Iv

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

Pathways for Albinism, Oculocutaneous, Type Iv

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.32 TYRP1 TYR MC1R DCT ASIP
2
Show member pathways
11.01 TYRP1 TYR DCT
3 9.72 TYRP1 TYR SLC45A2 OCA2 DCT

GO Terms for Albinism, Oculocutaneous, Type Iv

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

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 9.85 TYRP1 TYR SLC45A2 SLC24A5 SLC24A4 OCA2
2 cell GO:0005623 9.65 SLC24A5 SLC24A4 GPR143 BLOC1S3 ASIP
3 melanosome GO:0042470 9.35 TYRP1 TYR SLC24A5 GPR143 DCT
4 melanosome membrane GO:0033162 9.1 TYRP1 TYR SLC45A2 OCA2 GPR143 DCT

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

# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.65 TYR SLC45A2 GPR143
2 melanosome organization GO:0032438 9.62 TYRP1 GPR143 BLOC1S3 ASIP
3 melanosome transport GO:0032402 9.58 GPR143 BLOC1S3 ASIP
4 developmental pigmentation GO:0048066 9.56 SLC45A2 OCA2 DCT BLOC1S3
5 melanocyte differentiation GO:0030318 9.55 TYRP1 SLC24A5 OCA2 LRMDA HPS6
6 eye pigment biosynthetic process GO:0006726 9.54 TYR OCA2 GPR143
7 melanin biosynthetic process GO:0042438 9.5 TYRP1 TYR SLC45A2 OCA2 MC1R DCT
8 positive regulation of melanin biosynthetic process GO:0048023 9.46 TYRP1 ASIP
9 melanin biosynthetic process from tyrosine GO:0006583 9.43 TYR DCT
10 pigmentation GO:0043473 9.23 TYRP1 TYR OCA2 MC1R HPS6 DCT

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

# Name GO ID Score Top Affiliating Genes
1 calcium, potassium:sodium antiporter activity GO:0008273 8.96 SLC24A5 SLC24A4
2 monophenol monooxygenase activity GO:0004503 8.62 TYRP1 TYR

Sources for Albinism, Oculocutaneous, Type Iv

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
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