eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| oculocutaneous albinism | ||||
| Disease ID | 379 |
|---|---|
| Disease | oculocutaneous albinism |
| Definition | Heterogeneous group of autosomal recessive disorders comprising at least four recognized types, all having in common varying degrees of hypopigmentation of the skin, hair, and eyes. The two most common are the tyrosinase-positive and tyrosinase-negative types. |
| Synonym | albinism oculocutaneous albinism, oculocutaneous albinism, oculocutaneous [disease/finding] albinismus totalis albinismus universalis complete perfect albinism complete universal albinism oca - oculocutaneous albinism oculocutaneous albinism (disorder) oculocutaneous albinism, nos total albinism |
| Orphanet | |
| DOID | |
| UMLS | C0078918 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:11) C0007099 | carcinoma in situ | 1 C0079504 | hermansky-pudlak syndrome | 1 C0156147 | granulomatous colitis | 1 C0034951 | refractive error | 1 C1858325 | alpha-methylacyl-coa racemase deficiency | 1 C0007965 | chediak-higashi syndrome | 1 C0007137 | squamous cell carcinoma | 1 C0009319 | colitis | 1 C1318558 | congenital melanocytic nevus | 1 C0034951 | refractive errors | 1 C0038379 | strabismus | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:6) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:9) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:54) 434 | ASIP | 2.05 | DISEASES 388552 | BLOC1S3 | 4.488 | DISEASES 83938 | C10orf11 | 4.848 | DISEASES 811 | CALR | 1.608 | DISEASES 80254 | CEP63 | 1.82 | DISEASES 1123 | CHN1 | 1.051 | DISEASES 387836 | CLEC2A | 1.139 | DISEASES 1415 | CRYBB2 | 1.835 | DISEASES 192668 | CYS1 | 1.453 | DISEASES 1638 | DCT | 3.866 | DISEASES 84062 | DTNBP1 | 2.023 | DISEASES 2242 | FES | 1.172 | DISEASES 2558 | GABRA5 | 1.818 | DISEASES 2739 | GLO1 | 1.032 | DISEASES 10457 | GPNMB | 1.172 | DISEASES 4935 | GPR143 | 4.182 | DISEASES 2875 | GPT | 1.396 | DISEASES 89781 | HPS4 | 5.987 | DISEASES 3309 | HSPA5 | 1.28 | DISEASES 387755 | INSC | 1.62 | DISEASES 3916 | LAMP1 | 1.931 | DISEASES 28956 | LAMTOR2 | 3.191 | DISEASES 8649 | LAMTOR3 | 2.613 | DISEASES 1130 | LYST | 5.573 | DISEASES 4157 | MC1R | 4.507 | DISEASES 10367 | MICU1 | 1.524 | DISEASES 4644 | MYO5A | 2.179 | DISEASES 4647 | MYO7A | 1.065 | DISEASES 58484 | NLRC4 | 1.86 | DISEASES 7025 | NR2F1 | 1.509 | DISEASES 7026 | NR2F2 | 1.311 | DISEASES 4905 | NSF | 1.113 | DISEASES 4948 | OCA2 | 7.381 | DISEASES 5077 | PAX3 | 1.924 | DISEASES 5080 | PAX6 | 1.709 | DISEASES 6490 | PMEL | 3.053 | DISEASES 5478 | PPIA | 1.67 | DISEASES 9588 | PRDX6 | 1.131 | DISEASES 8643 | PTCH2 | 2.413 | DISEASES 84795 | PYROXD2 | 3.16 | DISEASES 5873 | RAB27A | 3.708 | DISEASES 100151683 | RNU4ATAC | 2.5 | DISEASES 327657 | SERPINA9 | 1.942 | DISEASES 6439 | SFTPB | 2.386 | DISEASES 25769 | SLC24A2 | 2.821 | DISEASES 123041 | SLC24A4 | 4.145 | DISEASES 283652 | SLC24A5 | 5.903 | DISEASES 55315 | SLC29A3 | 1.169 | DISEASES 6663 | SOX10 | 1.512 | DISEASES 80320 | SP6 | 1.14 | DISEASES 51684 | SUFU | 1.124 | DISEASES 4308 | TRPM1 | 1.549 | DISEASES 7306 | TYRP1 | 6.458 | DISEASES 7337 | UBE3A | 1.022 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 379 |
|---|---|
| Disease | oculocutaneous albinism |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:17) HP:0000639 | Nystagmus HP:0000505 | Visual impairment HP:0006739 | Squamous cell carcinoma of the skin HP:0000992 | Cutaneous photosensitivity HP:0005599 | Hypopigmentation of hair HP:0000486 | Strabismus HP:0000545 | Myopia HP:0000613 | Photophobia HP:0007513 | Generalized hypopigmentation HP:0007730 | Iris hypopigmentation HP:0000483 | Astigmatism HP:0007750 | Hypoplasia of the fovea HP:0008499 | High-grade hypermetropia HP:0011364 | White hair HP:0002227 | White eyelashes HP:0002861 | Melanoma HP:0002671 | Basal cell carcinoma |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:10) HP:0030731 | Carcinoma | 2 HP:0100825 | Inflammation of the lips | 1 HP:0002860 | Squamous cell carcinoma | 1 HP:0000995 | Beauty mark | 1 HP:0003764 | Naevus | 1 HP:0002583 | Colitis | 1 HP:0000486 | Squint eyes | 1 HP:0001508 | Weight faltering | 1 HP:0000505 | Poor vision | 1 HP:0001892 | Bleeding diathesis | 1 |
| Disease ID | 379 |
|---|---|
| Disease | oculocutaneous albinism |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:18) C2676232 | complement component 6 deficiency C1421293 | angelman syndrome C0796561 | melanoma C0581883 | deafness C0518959 | left atrial myxoma C0278883 | metastatic melanoma C0206737 | intradermal naevus C0206735 | amelanotic melanomas C0206735 | amelanotic melanoma C0156147 | granulomatous colitis C0085786 | fibrosing alveolitis C0085786 | diffuse interstitial pulmonary fibrosis C0034069 | pulmonary fibrosis C0027962 | melanocytic nevi C0025202 | malignant melanoma C0020302 | developmental glaucoma C0013261 | duane syndrome C0013261 | duane retraction syndrome |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:1) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:11) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121912621 | 14961451 | 51151 | SLC45A2 | umls:C0078918 | BeFree | Of 75 unrelated patients that were screened, 18 individuals (24%) were identified as having OCA4; they harbored seven novel mutations, including four missense mutations (P58S, D157N, G188V, and V507L) and three frameshift mutations (S90CGGCCA-->GC, V144insAAGT, and V469delG), showing that MATP is the most frequent locus for tyrosinase-positive OCA in Japanese patients. | 0.032686153 | 2004 | SLC45A2 | 5 | 33982329 | C | T |
| rs121912621 | 14961451 | 7299 | TYR | umls:C0078918 | BeFree | Of 75 unrelated patients that were screened, 18 individuals (24%) were identified as having OCA4; they harbored seven novel mutations, including four missense mutations (P58S, D157N, G188V, and V507L) and three frameshift mutations (S90CGGCCA-->GC, V144insAAGT, and V469delG), showing that MATP is the most frequent locus for tyrosinase-positive OCA in Japanese patients. | 0.254159855 | 2004 | SLC45A2 | 5 | 33982329 | C | T |
| rs148066812 | 22734612 | 7299 | TYR | umls:C0078918 | BeFree | Our findings, along with the results of previous studies, indicate that the p.Cys35Arg, p.Arg278* and p.Gly419Arg alleles of TYR and the p.Asp486Tyr and c.1045-15 T > G alleles of OCA2 are the most common causes of OCA in Pakistani families. | 0.254159855 | 2012 | OCA2 | 15 | 28081769 | G | A |
| rs148066812 | 22734612 | 4948 | OCA2 | umls:C0078918 | BeFree | Our findings, along with the results of previous studies, indicate that the p.Cys35Arg, p.Arg278* and p.Gly419Arg alleles of TYR and the p.Asp486Tyr and c.1045-15 T > G alleles of OCA2 are the most common causes of OCA in Pakistani families. | 0.040773327 | 2012 | OCA2 | 15 | 28081769 | G | A |
| rs16891982 | 25760657 | 51151 | SLC45A2 | umls:C0078918 | BeFree | The present study analyzed the effects of two human MATP mutations, D93N, which causes oculocutaneous albinism 4 (OCA4), and L374F, which is correlated with light pigmentation in European populations. | 0.032686153 | 2015 | SLC45A2 | 5 | 33951588 | C | G |
| rs1800414 | 24617981 | 4948 | OCA2 | umls:C0078918 | BeFree | A non-synonymous variant, H615R in the oculocutaneous albinism 2 gene (OCA2), was associated with the risk of malignant melanoma in the Yamagata group (odds ratio [OR], 0.38; 95% confidence interval [CI], 0.17-0.86; P = 0.020). | 0.040773327 | 2014 | OCA2 | 15 | 27951891 | T | C,A |
| rs3733808 | 14961451 | 51151 | SLC45A2 | umls:C0078918 | BeFree | Of 75 unrelated patients that were screened, 18 individuals (24%) were identified as having OCA4; they harbored seven novel mutations, including four missense mutations (P58S, D157N, G188V, and V507L) and three frameshift mutations (S90CGGCCA-->GC, V144insAAGT, and V469delG), showing that MATP is the most frequent locus for tyrosinase-positive OCA in Japanese patients. | 0.032686153 | 2004 | SLC45A2 | 5 | 33944722 | C | T,G |
| rs3733808 | 14961451 | 7299 | TYR | umls:C0078918 | BeFree | Of 75 unrelated patients that were screened, 18 individuals (24%) were identified as having OCA4; they harbored seven novel mutations, including four missense mutations (P58S, D157N, G188V, and V507L) and three frameshift mutations (S90CGGCCA-->GC, V144insAAGT, and V469delG), showing that MATP is the most frequent locus for tyrosinase-positive OCA in Japanese patients. | 0.254159855 | 2004 | SLC45A2 | 5 | 33944722 | C | T,G |
| rs61753180 | 23882993 | 7299 | TYR | umls:C0078918 | BeFree | Ocular findings in patients with oculocutaneous albinism type ia with G47D tyrosinase gene mutation in Puerto Rico: a case report. | 0.254159855 | 2013 | TYR | 11 | 89178093 | G | A |
| rs61754392 | 22734612 | 4948 | OCA2 | umls:C0078918 | BeFree | Our findings, along with the results of previous studies, indicate that the p.Cys35Arg, p.Arg278* and p.Gly419Arg alleles of TYR and the p.Asp486Tyr and c.1045-15 T > G alleles of OCA2 are the most common causes of OCA in Pakistani families. | 0.040773327 | 2012 | TYR | 11 | 89284843 | G | A |
| rs61754392 | 22734612 | 7299 | TYR | umls:C0078918 | BeFree | Our findings, along with the results of previous studies, indicate that the p.Cys35Arg, p.Arg278* and p.Gly419Arg alleles of TYR and the p.Asp486Tyr and c.1045-15 T > G alleles of OCA2 are the most common causes of OCA in Pakistani families. | 0.254159855 | 2012 | TYR | 11 | 89284843 | G | A |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:8) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0006739 | Squamous cell carcinoma of the skin | MP:0009657 | failure of chorioallantoic fusion | failure to initiate and/or complete the formation of a highly vascularized extra-embryonic fetal membrane by fusion of the chorion and allantois |
| HP:0007750 | Hypoplasia of the fovea | MP:0012528 | abnormal zone of polarizing activity morphology | any structural anomaly of the subset of cells found in the posterior mesenchyme region of the vertebrate limb bud; Sonic hedgehog (Shh) produced by ZPA represents the key mediator of the polarizing activity that regulates patterning of the limb along the |
| HP:0000992 | Cutaneous photosensitivity | MP:0001202 | skin photosensitivity | abnormally heightened reactivity of the skin to sunlight |
| HP:0007513 | Generalized hypopigmentation | MP:0005408 | hypopigmentation | dilution of pigment in any or all tissues or a part of a tissue |
| HP:0002671 | Basal cell carcinoma | MP:0013696 | increased granulocyte monocyte progenitor cell number | increase in the number of a hematopoietic progenitor cell that is committed to the granulocyte and monocyte lineages; these cells are CD123-positive, and do not express Gata1 or Gata2 but do express C/EBPa, and Pu.1 |
| HP:0011364 | White hair | MP:0004382 | abnormal hair follicle melanogenesis | failure of or anomaly in the biosynthetic pathway of melanin formation in hair follicles |
| HP:0005599 | Hypopigmentation of hair | MP:0009657 | failure of chorioallantoic fusion | failure to initiate and/or complete the formation of a highly vascularized extra-embryonic fetal membrane by fusion of the chorion and allantois |
| HP:0007730 | Iris hypopigmentation | MP:0005408 | hypopigmentation | dilution of pigment in any or all tissues or a part of a tissue |
Mapped by homologous gene(Total Items:17) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000483 | Astigmatism | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0008499 | High-grade hypermetropia | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0005599 | Hypopigmentation of hair | MP:0014178 | increased brain apoptosis | increase in the number of cells of the brain undergoing programmed cell death |
| HP:0000545 | Myopia | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000992 | Cutaneous photosensitivity | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000613 | Photophobia | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0006739 | Squamous cell carcinoma of the skin | MP:0013501 | increased fibroblast apoptosis | increase in the timing or the number of fibroblast cells undergoing programmed cell death |
| HP:0000486 | Strabismus | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0000505 | Visual impairment | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0002227 | White eyelashes | MP:0014164 | abnormal ciliary process morphology | any structural anomaly of any of the pigmented processes that radiate from the ciliary muscle and give attachments to ligaments supporting the lens of the eye; these processes increase in thickness as they advance from the orbiculus ciliaris to the exter |
| HP:0011364 | White hair | MP:0012144 | decreased b wave amplitude | reduction in the size (height or maximum displacement) of the b wave as measured in the electroretinogram |
| HP:0002861 | Melanoma | MP:0012431 | increased lymphoma incidence | greater than the expected number of neoplasms characterized by a proliferation of malignant lymphocytes in lymphoid tissue in a specific population in a given time period |
| HP:0007730 | Iris hypopigmentation | MP:0014164 | abnormal ciliary process morphology | any structural anomaly of any of the pigmented processes that radiate from the ciliary muscle and give attachments to ligaments supporting the lens of the eye; these processes increase in thickness as they advance from the orbiculus ciliaris to the exter |
| HP:0007750 | Hypoplasia of the fovea | MP:0014164 | abnormal ciliary process morphology | any structural anomaly of any of the pigmented processes that radiate from the ciliary muscle and give attachments to ligaments supporting the lens of the eye; these processes increase in thickness as they advance from the orbiculus ciliaris to the exter |
| HP:0000639 | Nystagmus | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0002671 | Basal cell carcinoma | MP:0013956 | decreased colon length | reduced length of the portion of the large intestine between the cecum and the rectum |
| HP:0007513 | Generalized hypopigmentation | MP:0014164 | abnormal ciliary process morphology | any structural anomaly of any of the pigmented processes that radiate from the ciliary muscle and give attachments to ligaments supporting the lens of the eye; these processes increase in thickness as they advance from the orbiculus ciliaris to the exter |
| Disease ID | 379 |
|---|---|
| Disease | oculocutaneous albinism |
| Case | (Waiting for update.) |