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1 OMIM reference -
1 associated gene
23 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Steinert myotonic dystrophy
Dentatorubral pallidoluysian atrophy

DMPK ATN1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
DMPK
(0.63)
ATN1



Citations in the biomedical literature:


Steinert myotonic dystrophy
DMPK
Dentatorubral pallidoluysian atrophy
ATN1



Steinert myotonic dystrophy
Dentatorubral pallidoluysian atrophy

Synonym(s):
- DM1
- MD1
- Myotonic dystrophy type 1
- Steinert disease

Synonym(s):
- DRPLA
- Dentatorubropallidoluysian atrophy
- Naito-Oyanagi disease

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

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: variable
Average age of death: any age
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
1 MeSH reference: C538008
External references:
1 OMIM reference -
No MeSH references

Steinert myotonic dystrophy

Very frequent
- Abnormal EMG / electromyogram / electropmyography
- Autosomal dominant inheritance
- Cardiac conduction defect / sinoauricular / heart / auriculoventricular / branch block
- Expressionless face / amimia
- Hypertonia / spasticity / rigidity / stiffness
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Myotonia

Frequent
- Anomalies of the endocrine glands
- Cataract / lens opacification
- Congenital cardiac anomaly / malformation / cardiopathy
- Facial palsy
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia

Occasional
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Hydrocephaly
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Inguinal / inguinoscrotal / crural hernia
- Lateral cleft lip / gingival cleft / paramedian nasal cleft
- Megaureter / hydronephrosis / pyeloureteral junction syndrome
- Strabismus / squint
- Undescended / ectopic testes / cryptorchidia / unfixed testes


Dentatorubral pallidoluysian atrophy

(no data available)