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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
3 OMIM references -
3 associated genes
15 signs/symptoms
Chorioretinopathy, Birdshot type
Primary pigmented nodular adrenocortical disease

HLA-A PDE11A
PDE8B
PRKAR1A


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
HLA-A
(0.52)
PRKAR1A



Citations in the biomedical literature:


Chorioretinopathy, Birdshot type
HLA-A
Primary pigmented nodular adrenocortical disease
PDE11A PDE8B PRKAR1A



Chorioretinopathy, Birdshot type
Primary pigmented nodular adrenocortical disease

Synonym(s):
(no synonyms)

Synonym(s):
- PPNAD

Classification (Orphanet):
- Rare eye disease
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
- Rare infertility

Classification (ICD10):
- Diseases of the eye and adnexa -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: normal
Type of inheritance: unknown
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: variable
Average age of death: any age
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
1 MeSH reference: C537630
External references:
3 OMIM references -
No MeSH references

Primary pigmented nodular adrenocortical disease

Very frequent
- Adrenal glands anomalies
- Cortico-adrenal hyperplasia / hypersecretion

Frequent
- Asthenia / fatigue / weakness
- Chronic arterial hypertension
- Diabetes mellitus
- Late puberty / hypogonadism / hypogenitalism
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Muscle weakness / flaccidity
- Mutiple fractures / bone fragility
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Short stature / dwarfism / nanism
- Striae
- Thin skin
- Truncal obesity

Occasional
- Myopathy


Chorioretinopathy, Birdshot type

(no data available)