eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| piebaldism | ||||
| Disease ID | 483 |
|---|---|
| Disease | piebaldism |
| Definition | Autosomal dominant, congenital disorder characterized by localized hypomelanosis of the skin and hair. The most familiar feature is a white forelock presenting in 80 to 90 percent of the patients. The underlying defect is possibly related to the differentiation and migration of melanoblasts, as well as to defective development of the neural crest (neurocristopathy). Piebaldism may be closely related to WAARDENBURG SYNDROME. |
| Synonym | albinism, cutaneous albinism, partial congenital partial albinism (leukoderma) on face, trunk, or limbs congenital partial albinism on face, trunk, or limbs congenital partial leucoderma cutaneous albinism partial absent skin pigmentation partial albinism partial albinism (disorder) pbt piebald trait piebaldism (disorder) piebaldism [disease/finding] |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0080024 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:13) C0085113 | neurofibromatosis | 2 C0007137 | squamous cell carcinoma | 1 C0007099 | carcinoma in situ | 1 C0034951 | refractive error | 1 C0038379 | strabismus | 1 C1318558 | congenital melanocytic nevus | 1 C0079504 | hermansky-pudlak syndrome | 1 C0034951 | refractive errors | 1 C1858325 | alpha-methylacyl-coa racemase deficiency | 1 C0007965 | chediak-higashi syndrome | 1 C0156147 | granulomatous colitis | 1 C0021053 | immune dysfunction | 1 C0009319 | colitis | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:26) 31 | ACACA | 1.739 | DISEASES 250 | ALPP | 2.273 | DISEASES 55636 | CHD7 | 1.714 | DISEASES 1638 | DCT | 2.198 | DISEASES 8694 | DGAT1 | 1.882 | DISEASES 1908 | EDN3 | 2.97 | DISEASES 1910 | EDNRB | 3.002 | DISEASES 2042 | EPHA3 | 2.093 | DISEASES 2596 | GAP43 | 1.58 | DISEASES 2638 | GC | 1.226 | DISEASES 2868 | GRK4 | 2.992 | DISEASES 2934 | GSN | 1.269 | DISEASES 3916 | LAMP1 | 1.295 | DISEASES 3920 | LAMP2 | 1.574 | DISEASES 3980 | LIG3 | 1.598 | DISEASES 1130 | LYST | 2.374 | DISEASES 4157 | MC1R | 2.48 | DISEASES 100507436 | MICA | 1.238 | DISEASES 4763 | NF1 | 2.98 | DISEASES 4948 | OCA2 | 3.304 | DISEASES 5077 | PAX3 | 3.65 | DISEASES 6663 | SOX10 | 2.983 | DISEASES 10252 | SPRY1 | 2.204 | DISEASES 8801 | SUCLG2 | 2.085 | DISEASES 4070 | TACSTD2 | 1.913 | DISEASES 7306 | TYRP1 | 3.435 | DISEASES |
| Locus | Symbol | Locus(Total Locus:2) |
| Disease ID | 483 |
|---|---|
| Disease | piebaldism |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:19) HP:0002211 | White forelock HP:0012733 | Macule HP:0007544 | Piebaldism HP:0001251 | Ataxia HP:0001053 | Hypopigmented skin patches HP:0005599 | Hypopigmentation of hair HP:0000252 | Microcephaly HP:0001100 | Heterochromia iridis HP:0000343 | Long philtrum HP:0000365 | Hearing impairment HP:0002226 | White eyebrow HP:0000664 | Synophrys HP:0002251 | Aganglionic megacolon HP:0002648 | Abnormality of calvarial morphology HP:0001252 | Muscular hypotonia HP:0000431 | Wide nasal bridge HP:0002227 | White eyelashes HP:0008069 | Neoplasm of the skin HP:0001249 | Intellectual disability |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:15) HP:0002721 | Immunodeficiency | 4 HP:0000365 | Hearing impairment | 2 HP:0001067 | Neurofibromas | 2 HP:0030731 | Carcinoma | 2 HP:0001892 | Bleeding diathesis | 2 HP:0005374 | Cellular immunodeficiency | 1 HP:0003764 | Naevus | 1 HP:0100825 | Inflammation of the lips | 1 HP:0002860 | Squamous cell carcinoma | 1 HP:0000505 | Poor vision | 1 HP:0001508 | Weight faltering | 1 HP:0000486 | Squint eyes | 1 HP:0000995 | Beauty mark | 1 HP:0001945 | Fever | 1 HP:0002583 | Colitis | 1 |
| Disease ID | 483 |
|---|---|
| Disease | piebaldism |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
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 |
| rs121913679 | NA | 3815 | KIT | umls:C0080024 | CLINVAR | NA | 0.566514605 | NA | KIT | 4 | 54728121 | G | A |
| rs121913680 | NA | 3815 | KIT | umls:C0080024 | CLINVAR | NA | 0.566514605 | NA | KIT | 4 | 54727515 | G | A |
| rs121913687 | NA | 3815 | KIT | umls:C0080024 | CLINVAR | NA | 0.566514605 | NA | KIT | 4 | 54736552 | A | C |
| rs28933371 | 11074500 | 3815 | KIT | umls:C0080024 | UNIPROT | Three novel mutations of the proto-oncogene KIT cause human piebaldism. | 0.566514605 | 2000 | KIT | 4 | 54727519 | T | G |
| rs28933371 | NA | 3815 | KIT | umls:C0080024 | CLINVAR | NA | 0.566514605 | NA | KIT | 4 | 54727519 | T | G |
| rs387907217 | 16619012 | 3815 | KIT | umls:C0080024 | BeFree | These results are consistent with the previous hypothesis that progressive piebaldism might result from digenic inheritance, of the KIT(V620A) mutation that causes piebaldism and a second, unknown locus that causes progressive depigmentation. | 0.566514605 | 2006 | KIT | 4 | 54727907 | T | C |
| rs794726671 | NA | 3815 | KIT | umls:C0080024 | CLINVAR | NA | 0.566514605 | NA | KIT | 4 | 54727520 | T | G |
| rs794726672 | NA | 3815 | KIT | umls:C0080024 | CLINVAR | NA | 0.566514605 | NA | KIT | 4 | 54728056 | AA | - |
| rs794726673 | NA | 3815 | KIT | umls:C0080024 | CLINVAR | NA | 0.566514605 | NA | KIT | 4 | 54727449 | - | G |
| rs794726674 | NA | 3815 | KIT | umls:C0080024 | CLINVAR | NA | 0.566514605 | NA | KIT | 4 | 54695697 | G | - |
| rs794726675 | NA | 3815 | KIT | umls:C0080024 | CLINVAR | NA | 0.566514605 | NA | KIT | 4 | 54727928 | 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:7) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000431 | Wide nasal bridge | MP:0006292 | abnormal nasal placode morphology | any structural anomaly in the paired ectodermal placodes that come to lie in the bottom of the olfactory pits as the pits are deepened by the growth of the surrounding medial and lateral nasal processes; the nasal placode gives rise to the olfactory epith |
| HP:0008069 | Neoplasm of the skin | MP:0011205 | excessive folding of visceral yolk sac | the appearance of wrinkles or folds on the surface of the visceral yolk sac |
| HP:0001053 | Hypopigmented skin patches | MP:0004947 | skin inflammation | local accumulation of fluid, plasma proteins, and leukocytes in the skin |
| HP:0001252 | Muscular hypotonia | MP:0004144 | hypotonia | decreased muscle tension resulting in limpness of the muscles in the resting state, not to be confused with weakness |
| 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:0002251 | Aganglionic megacolon | MP:0002926 | aganglionic megacolon | extreme dilation of the colon due to defects in innervation from the ganglia, or absence of the ganglia of the myenteric plexus |
| HP:0002648 | Abnormality of calvarial morphology | MP:0013283 | failure of ventral body wall closure | failure of the lateral body wall folds (a combination of mesoderm and ectoderm arising on each side of the embryo) to progress ventrally and meet in the midline and/or fuse to close the ventral body wall; normally, this closure is aided by growth of the h |
Mapped by homologous gene(Total Items:18) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001252 | Muscular hypotonia | 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:0002211 | White forelock | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001053 | Hypopigmented skin patches | 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:0000343 | Long philtrum | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002226 | White eyebrow | 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:0000664 | Synophrys | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0002251 | Aganglionic megacolon | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0008069 | Neoplasm of the skin | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0007544 | Piebaldism | MP:0013293 | embryonic lethality prior to tooth bud stage | death prior to the appearance of tooth buds (Mus: E12-E12.5) |
| HP:0001249 | Intellectual disability | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0000365 | Hearing impairment | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002648 | Abnormality of calvarial morphology | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| 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:0001251 | Ataxia | MP:0020301 | short tongue | decreased length of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor |
| HP:0000252 | Microcephaly | 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:0000431 | Wide nasal bridge | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001100 | Heterochromia iridis | MP:0014171 | increased fatty acid oxidation | increased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydr |
| Disease ID | 483 |
|---|---|
| Disease | piebaldism |
| Case | (Waiting for update.) |