eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| familial progressive hyperpigmentation | ||||
| Disease ID | 1920 |
|---|---|
| Disease | familial progressive hyperpigmentation |
| Definition | Patches of hyperpigmentation in the skin, which are present at birth or in early infancy and increase in size and number with age. A rare autosomal dominant disorder. |
| Synonym | familial progressive hyperpigmentation (disorder) fph2, formerly fphh hyperpigmentation with or without hypopigmentation, familial progressive hyperpigmentation, familial progressive hyperpigmentation, familial progressive, 2, formerly melanosis diffusa congenita melanosis universalis hereditaria muh universal melanosis |
| Orphanet | |
| OMIM | |
| UMLS | C1840392 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:1) KITLG | 12q21.32 |
| Disease ID | 1920 |
|---|---|
| Disease | familial progressive hyperpigmentation |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:6) HP:0000962 | Hyperkeratosis HP:0001003 | Multiple lentigines HP:0001045 | Blotchy loss of skin color HP:0001053 | Hypopigmented skin patches HP:0007505 | Progressive hyperpigmentation HP:0000957 | Cafe-au-lait macules |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1920 |
|---|---|
| Disease | familial progressive hyperpigmentation |
| 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:3) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121918653 | NA | 4254 | KITLG | umls:C1840392 | CLINVAR | NA | 0.480271442 | NA | KITLG | 12 | 88545774 | T | C |
| rs730882156 | NA | 4254 | KITLG | umls:C1840392 | CLINVAR | NA | 0.480271442 | NA | KITLG | 12 | 88545783 | A | G |
| rs730882157 | NA | 4254 | KITLG | umls:C1840392 | CLINVAR | NA | 0.480271442 | NA | KITLG | 12 | 88545781 | T | G |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:3) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001053 | Hypopigmented skin patches | MP:0004947 | skin inflammation | local accumulation of fluid, plasma proteins, and leukocytes in the skin |
| HP:0007505 | Progressive hyperpigmentation | MP:0001188 | hyperpigmentation | excess of pigment in any or all tissues or a part of a tissue |
| HP:0000957 | Cafe-au-lait spot | MP:0002939 | head spot | the appearance of a round area of white fur on the head |
Mapped by homologous gene(Total Items:6) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| 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:0001003 | Multiple lentigines | 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:0001045 | Vitiligo | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0000957 | Cafe-au-lait spot | 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 |
| HP:0000962 | Hyperkeratosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0007505 | Progressive hyperpigmentation | MP:0011610 | abnormal primordial germ cell apoptosis | change in the timing or the number of primordial germ cells undergoing programmed cell death |
| Disease ID | 1920 |
|---|---|
| Disease | familial progressive hyperpigmentation |
| Case | (Waiting for update.) |