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3 OMIM references -
3 associated genes
15 signs/symptoms
COMMON GENES: 1
1 OMIM reference -
1 associated gene
8 signs/symptoms
Primary pigmented nodular adrenocortical disease
Autosomal dominant striatal neurodegeneration

PDE11A PDE8B
PDE8B
PRKAR1A


COMMON
GENES
PDE8B



Citations in the biomedical literature:


Primary pigmented nodular adrenocortical disease
PDE11A PDE8B PRKAR1A
Autosomal dominant striatal neurodegeneration



Primary pigmented nodular adrenocortical disease
Autosomal dominant striatal neurodegeneration

Synonym(s):
- PPNAD

Synonym(s):
- ADSD

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

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
(no data available)

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: adulthood
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
Autosomal dominant striatal neurodegeneration

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


Very frequent
- Autosomal dominant inheritance
- Elocution disorders / dysarthria / dysphonia
- Execution movement disorder / dysmetria / bradykinesia / akinesia / apraxia
- Movement disorder
- Muscle anomalies

Frequent
- Abnormal gait
- Anomalies of tongue, gingiva and oral mucosa
- Restricted joint mobility / joint stiffness / ankylosis