ORPHA:647782
Isolated micronodular adrenocortical disease
Synonyms: i-MAD
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Status
- active
A rare adrenocortical nodular disease characterized by bilateral, multiple micronodules (<1 cm), typically associated with endogenous Cushing syndrome, that occurs predominantly in children and young adults (females in majority). Pigmentation and inter-nodular adrenal cortical atrophy (histological findings present in primary pigmented nodular adrenocortical disease) are generally absent.
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Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated micronodular adrenocortical disease | i-MAD |
| fr | Maladie micronodulaire corticosurrénalienne isolée | Maladie micronodulaire cortico-surrénalienne isolée · Maladie micronodulaire des glandes surrénales isolée · i-MAD |
| de | Isolierte mikronoduläre adrenokortikale Krankheit | Isolierte mikronoduläre Nebennierenrindenerkrankung · i-MAD |
| es | Enfermedad corticosuprarrenal micronodular aislada | Enfermedad adrenocortical micronodular aislada · i-MAD |
| it | Malattia adrenocorticale micronodulare isolata | = en |
| nl | Geïsoleerde micronodulaire adrenocorticale ziekte | = en |
| pt | Doença adrenocortical micronodular isolada | = en |
| pl | Izolowana mikroguzkowa choroba kory nadnerczy | = en |
| cs | Izolované mikronodulární adrenokortikální onemocnění | = en |
| uk | Ізольоване мікровузлове захворювання кори надниркових залоз | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 610475 | NTBT | validated | |
| OMIM | 610489 | NTBT | validated | |
| OMIM | 614190 | NTBT | validated | |
| ICD-10 | E24.8 | NTBT | attributed | validated |
| ICD-11 | 5A70.Y | NTBT | attributed | validated |
| MONDO | 0958263 | E | validated | |
| MONDO | 958263 | E | validated | |
| UMLS | C5816756 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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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.
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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] |
| PDE8B | Disease-causing germline mutation(s) in | Assessed | HGNC:8794 | ENSG00000113231 | 603390 | 5q13.3 | phosphodiesterase 8B | 35992106[PMID] |
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/647782
- This record as JSON: /data/d/647782.json