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3 OMIM references -
3 associated genes
15 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Primary pigmented nodular adrenocortical disease
Pigmented paravenous retinochoroidal atrophy

PDE11A CRB1
PDE8B
PRKAR1A


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
PRKAR1A
(0.63)
CRB1



Citations in the biomedical literature:


Primary pigmented nodular adrenocortical disease
PDE11A PDE8B PRKAR1A
Pigmented paravenous retinochoroidal atrophy
CRB1



Primary pigmented nodular adrenocortical disease
Pigmented paravenous retinochoroidal atrophy

Synonym(s):
- PPNAD

Synonym(s):
- PPRCA

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

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

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

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


Pigmented paravenous retinochoroidal atrophy

(no data available)