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5 OMIM references -
5 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
2 OMIM references -
2 associated genes
18 signs/symptoms
Congenital muscular dystrophy with cerebellar involvement
Triple A syndrome

FKRP AAAS
GMPPB GMPPA
POMGNT1
POMT1
POMT2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
GMPPB
(0.84)
GMPPA



Citations in the biomedical literature:


Congenital muscular dystrophy with cerebellar involvement
FKRP GMPPB POMGNT1 POMT1 POMT2
Triple A syndrome
AAAS GMPPA



Congenital muscular dystrophy with cerebellar involvement
Triple A syndrome

Synonym(s):
- CMD with cerebellar involvement
- CMD-CRB

Synonym(s):
- 2A syndrome
- 3A syndrome
- 4A syndrome
- AAA syndrome
- Achalasia - addisonianism - alacrima syndrome
- Adrenal insufficiency - achalasia - alacrima
- Allgrove syndrome
- Double A syndrome
- Quaternary A syndrome

Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare abdominal surgical disease
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal recessive

External references:
5 OMIM references -
No MeSH references
External references:
2 OMIM references -
No MeSH references

Triple A syndrome

Very frequent
- Autosomal recessive inheritance
- Cortico-adrenal hypoplasia / insufficiency
- Diffuse / generalised skin hyperpigmentation / melanoderma
- Megaesophagus / cardiospasm / congenital dilation of the esophagus / achalasia
- Seizures / epilepsy / absences / spasms / status epilepticus

Frequent
- Mild visual loss / impaired visual acuity
- Palmoplantar hyperkeratosis / keratoderma
- Short stature / dwarfism / nanism

Occasional
- Ataxia / incoordination / trouble of the equilibrium
- Coloboma of iris
- Hypereflexia
- Hypothalamic-hypophyseal axis functional anomalies / hypopituitarism
- Hypotonia
- Microcephaly
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Psychic / psychomotor regression / dementia / intellectual decline
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Sensorineural deafness / hearing loss


Congenital muscular dystrophy with cerebellar involvement

(no data available)