ORPHA:977
Adrenomyodystrophy
historical
- Type
- Disease
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Infancy, Neonatal
- Status
- historical
An extremely rare genetic endocrine disease characterized by primary adrenal insufficiency, dystrophic myopathy, hepatic steatosis, severe psychomotor delay, megalocornea, failure to thrive, chronic constipation, and terminal bladder ectasia which can lead to death. There have been no further descriptions in the literature since 1982.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Adrenomyodystrophy | |
| fr | Adrénomyodystrophie | |
| de | Adrenomyodystrophie | |
| es | Adrenomiodistrofia | |
| it | Adrenomiodistrofia | |
| nl | Adrenomyodystrofie | |
| pt | Adrenomiodistrofia | |
| pl | Adrenomiodystrofia | |
| cs | Adrenomyodystrofie | |
| uk | Адреноміодистрофія | |
| zh | 肾上腺肌营养不良 | |
| tr | Adrenomyodistrofi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300270 | E | validated | |
| ICD-10 | E27.1 | NTBT | attributed | validated |
| ICD-11 | 5A74.Y | NTBT | index | validated |
| MONDO | 0010288 | E | validated | |
| MeSH | C538051 | E | validated | |
| UMLS | C1846044 | E | validated | |
| GARD | 562 | 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 (1):
- ORPHA:101960Genetic chronic primary adrenal insufficiency
rare genetic diseases; rare endocrine diseases
No children.
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 7153060[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_7153060[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
16 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002242 | Abnormal intestine morphology | |
| HP:0000079 | Abnormality of the urinary system | |
| HP:0003457 | EMG abnormality | |
| HP:0001508 | Failure to thrive | |
| HP:0001252 | Hypotonia | |
| HP:0000021 | Megacystis | |
| HP:0000485 | Megalocornea | |
| HP:0003198 | Myopathy | |
| HP:0008207 | Primary adrenal insufficiency | |
| HP:0011344 | Severe global developmental delay | |
| Frequent (79-30%) | ||
| HP:0002750 | Delayed skeletal maturation | |
| HP:0007440 | Generalized hyperpigmentation | |
| HP:0001397 | Hepatic steatosis | |
| HP:0004349 | Reduced bone mineral density | |
| HP:0001250 | Seizure | |
| HP:0004322 | Short stature | |
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/977
- This record as JSON: /data/d/977.json