Isolated primary pigmented nodular adrenocortical disease
Synonyms: Isolated PPNAD · i-PPNAD
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Status
- active
A rare adrenocortical nodular disease characterized by increased to normal sized adrenal glands containing multiple small (less than 1 cm in diameter) cortical pigmented (lipofuscin) nodules, surrounded by internodular adrenocortical atrophy. It is typically associated with the development of a form of adrenal Cushing syndrome (CS). Rarely, it has been associated with adrenal macronodules.
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated primary pigmented nodular adrenocortical disease | Isolated PPNAD · i-PPNAD |
| fr | Maladie corticosurrénalienne nodulaire pigmentée primaire isolée | Maladie cortico-surrénalienne nodulaire pigmentée primaire isolée · PPNAD isolée · i-PPNAD |
| de | Isolierte primäre pigmentierte noduläre Nebennierenrindenerkrankung | Isolierte PPNAD · Isolierte primäre pigmentierte noduläre adrenokortikale Krankheit · i-PPNAD |
| es | Enfermedad corticosuprarrenal nodular pigmentada primaria aislada | Enfermedad adrenocortical nodular pigmentada primaria aislada · PPNAD aislada · i-PPNAD |
| it | Malattia adrenocorticale nodulare pigmentata primitiva isolata | PPNAD isolata · i-PPNAD |
| nl | Geïsoleerde primaire gepigmenteerde nodulaire adrenocorticale ziekte | Geïsoleerde PPNAD · i-PPNAD |
| pt | Doença adrenocortical nodular pigmentada primária isolada | PPNAD isolada · i-PPNAD |
| pl | Izolowana pierwotna barwnikowa guzkowa choroba kory nadnerczy | = en |
| cs | Izolované primární pigmentované nodulární onemocnění kůry nadledvin | = en |
| uk | Ізольоване первинне пігментно-вузлове захворювання кори надниркових залоз | i-PPNAD · Ізольований PPNAD |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 610475 | NTBT | validated | |
| OMIM | 610489 | NTBT | validated | |
| ICD-10 | E24.8 | NTBT | attributed | validated |
| ICD-11 | 5A70.Y | NTBT | index | validated |
| MONDO | 0958262 | E | validated | |
| MONDO | 958262 | E | validated | |
| UMLS | C5816750 | 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:649017Rare adrenocortical nodular disease
rare endocrine diseases; rare neoplastic diseases - ORPHA:647768Rare adrenocortical nodular disease with Cushing syndrome as a major feature
rare endocrine diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:189439OBSOLETE: Primary pigmented nodular adrenocortical disease referred to · inactive
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PDE11A | Disease-causing germline mutation(s) in | Assessed | HGNC:8773 | ENSG00000128655 | 604961 | 2q31.2 | phosphodiesterase 11A | 35992106[PMID] |
| PRKAR1A | Disease-causing germline mutation(s) in | Assessed | HGNC:9388 | ENSG00000108946 | 188830 | 17q24.2 | protein kinase cAMP-dependent type I regulatory subunit alpha | 16464939[PMID] |
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/647772
- This record as JSON: /data/d/647772.json