ORPHA:86819
Atrichia with papular lesions
Synonyms: Papular atrichia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Status
- active
A rare inherited form of alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body, later associated with the development of papular lesions all over the body and preferentially on the face and extensor surfaces of the extremities.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Atrichia with papular lesions | Papular atrichia |
| fr | Atrichie avec lésions papuleuses | Atrichie avec lésions papulaires · Atrichie avec papules |
| de | Atrichie mit papulösen Läsionen | Atrichie mit Papeln |
| es | Atriquia con lesiones papulares | Atriquia papular |
| it | Atrichia con lesioni papulose | Atrichia papulosa |
| nl | Atrichie met papulaire laesies | Papulaire atrichie |
| pt | Atriquia com lesões papulares | |
| pl | Brak włosów z wykwitami grudkowymi | Atrichia grudkowa |
| cs | Atrichie s papulárními lézemi | Papulární atrichie |
| uk | Атрихія з папульозними ураженнями | Папульозна атрихія |
| zh | 无毛症伴丘疹损害 | 伴丘疹性损害的先天性无毛症 |
| tr | Papüler lezyonlar ile seyreden atrişi | Papüler atriji |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 209500 | E | validated | |
| ICD-10 | Q84.0 | NTBT | attributed | validated |
| ICD-11 | EC21.2 | NTBT | index | validated |
| MONDO | 0008847 | E | validated | |
| MeSH | C565924 | E | validated | |
| UMLS | C1859592 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:79364Alopecia
rare skin diseases - ORPHA:481771Genetic alopecia
rare genetic diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:1211OBSOLETE: Atrichia-intellectual disability and growth delay syndrome referred to · inactive
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HR | Disease-causing germline mutation(s) in | Assessed | HGNC:5172 | ENSG00000168453 | 602302 | 8p21.3 | HR lysine demethylase and nuclear receptor corepressor | 18709303[PMID] |
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/86819
- This record as JSON: /data/d/86819.json