Cytoscape Web
Click node...

Oculopharyngeal muscular dystrophy
1 OMIM reference -
1 associated gene
19 connected diseases
9 signs/symptoms
Disease Type of connection
Amyotrophic lateral sclerosis
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
17q11 microdeletion syndrome
Acute myeloblastic leukemia with maturation
Acute myeloblastic leukemia without maturation
Acute myelomonocytic leukemia
Acute promyelocytic leukemia
Coffin-Siris syndrome
Dedifferentiated liposarcoma
Familial rhabdoid tumor
Frontotemporal dementia with motor neuron disease
Pseudohypoaldosteronism type 2E
Well-differentiated liposarcoma
Familial retinoblastoma
Monosomy 13q14
Omenn syndrome
Precursor T-cell acute lymphoblastic leukemia
T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency
Unilateral retinoblastoma
Synonym(s):
- OPMD
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
1 MeSH reference: D039141
Gene symbol UniProt reference OMIM reference
PABPN1 Q86U42602279
Very frequent
- Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase
- Anomaly of the pharynx / pharyngeal anomaly
- Autosomal dominant inheritance
- Autosomal recessive inheritance
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Myopathy
- Ophthalmoplegia / ophthalmoparesis / oculomotor palsy
- Ptosis

Occasional
- Expressionless face / amimia