Piebaldism
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
Piebaldism is a rare congenital pigmentation skin disorder characterized by the presence of hypopigmented and depigmented skin areas (leukoderma) on various parts of the body, preferentially on the forehead, chest, abdomen, upper arms, and lower extremities, that are associated with a white forelock (poliosis), and in some cases with hypopigmented and depigmented eyebrows and eyelashes.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Piebaldism | |
| fr | Piébaldisme | |
| de | Piebaldismus | |
| es | Piebaldismo | |
| it | Piebaldismo | |
| nl | Piebaldisme | |
| pt | Piebaldismo | |
| pl | Piebaldyzm | |
| cs | Piebaldismus | |
| uk | Пєбальдизм | |
| zh | 斑驳病 | |
| tr | Piebaldizm |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 172800 | E | validated | |
| ICD-10 | E70.3 | NTBT | index | validated |
| ICD-11 | EC23.2Y | NTBT | index | validated |
| MONDO | 0008244 | E | validated | |
| MeSH | D016116 | E | validated | |
| UMLS | C0080024 | E | validated | |
| GARD | 4344 | E | validated | |
| MedDRA | 10084262 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:183469Genetic hypopigmentation of the skin
rare genetic diseases - ORPHA:79376Hypopigmentation of the skin
rare skin diseases
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KIT | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:6342 | ENSG00000157404 | 164920 | 4q12 | KIT proto-oncogene, receptor tyrosine kinase | 22670867[PMID]_25199540[PMID] |
| SNAI2 | Disease-causing germline mutation(s) in | Assessed | HGNC:11094 | ENSG00000019549 | 602150 | 8q11.21 | snail family transcriptional repressor 2 | 12955764[PMID]_24443330[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
19 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0005599 | Hypopigmentation of hair | |
| HP:0007544 | Piebaldism | |
| HP:0002211 | White forelock | |
| Frequent (79-30%) | ||
| HP:0001053 | Hypopigmented skin patches | |
| HP:0012733 | Macule | |
| HP:0002226 | White eyebrow | |
| HP:0002227 | White eyelashes | |
| Occasional (29-5%) | ||
| HP:0002683 | Abnormality of the calvaria | |
| HP:0002251 | Aganglionic megacolon | |
| HP:0001251 | Ataxia | |
| HP:0000365 | Hearing impairment | |
| HP:0001100 | Heterochromia iridis | |
| HP:0001252 | Hypotonia | |
| HP:0001249 | Intellectual disability | |
| HP:0000343 | Long philtrum | |
| HP:0000252 | Microcephaly | |
| HP:0008069 | Neoplasm of the skin | |
| HP:0000664 | Synophrys | |
| HP:0000431 | Wide nasal bridge | |
Run the differential on the 3 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2884
- This record as JSON: /data/d/2884.json