PedAM
Pediatric Disease Annotations & Medicines
| incontinentia pigmenti achromians | ||||
| Disease ID | 1492 |
|---|---|
| Disease | incontinentia pigmenti achromians |
| Definition | A large brown, blue, or gray hamartoma of dermal melanocytes, usually on the shoulder and upper arm that is most commonly found in Asian populations and in females. It is sometimes associated with sensory changes in the involved skin area, but very rarely becomes cancerous. |
| Synonym | achromians incontinentia pigmenti hmi hmi - hypomelanosis of ito hypomelanosis ito hypomelanosis of ito hypomelanosis of ito (disorder) hypomelanosis of ito [ambiguous] incontinentia pigmenti achromians syndrome incontinentia pigmenti achromians syndrome (disorder) incontinentia pigmenti achromicans of ito incontinentia pigmenti, type i, formerly ip1, formerly ito ito hypomelanosis ito syndrome ito's naevus ito's nevus ito's syndrome naevus fusoceruleus acromiodeltoideus naevus of ito nevus fusoceruleus acromiodeltoideus nevus of ito nevus of ito (disorder) syndrome ito syndrome, ito |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0022283 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:5) C0206736 | blue nevus | 1 C0497327 | dementia | 1 C0034013 | sexual precocity | 1 C0014544 | epilepsy | 1 C0027961 | nevus of ota | 1 |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:30) 3861 | KRT14 | DISEASES 7249 | TSC2 | DISEASES 2218 | FKTN | DISEASES 9513 | FXR2 | DISEASES 10343 | PKDREJ | DISEASES 4069 | LYZ | DISEASES 7299 | TYR | DISEASES 10000 | AKT3 | DISEASES 2065 | ERBB3 | DISEASES 2776 | GNAQ | DISEASES 9317 | PTER | DISEASES 84168 | ANTXR1 | DISEASES 4089 | SMAD4 | DISEASES 538 | ATP7A | DISEASES 157680 | VPS13B | DISEASES 6280 | S100A9 | DISEASES 8517 | IKBKG | DISEASES 2332 | FMR1 | DISEASES 2778 | GNAS | DISEASES 4952 | OCRL | DISEASES 1289 | COL5A1 | DISEASES 367 | AR | DISEASES 5696 | PSMB8 | DISEASES 2315 | MLANA | DISEASES 6736 | SRY | DISEASES 5048 | PAFAH1B1 | DISEASES 1747 | DLX3 | DISEASES 3481 | IGF2 | DISEASES 83695 | RHNO1 | DISEASES 7503 | XIST | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1492 |
|---|---|
| Disease | incontinentia pigmenti achromians |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:4) HP:0003764 | Naevus | 2 HP:0100814 | Mongolian spot | 2 HP:0009920 | Congenital melanosis bulbi | 1 HP:0000726 | Dementia | 1 |
| Disease ID | 1492 |
|---|---|
| Disease | incontinentia pigmenti achromians |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:1) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
All Snps(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Annotation(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
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| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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| (Waiting for update.) |
Chemical(Total Drugs:0) | |
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| (Waiting for update.) | |
FDA approved drug and dosage information(Total Drugs:0) | |
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| (Waiting for update.) | |
FDA labeling changes(Total Drugs:0) | |
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| (Waiting for update.) | |