ODCs

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1 OMIM reference -
3 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
9 signs/symptoms

17q11 microdeletion syndrome

Oculopharyngeal muscular dystrophy


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SUZ12	(0.63)	PABPN1

Citations in the biomedical literature:

17q11 microdeletion syndrome		Oculopharyngeal muscular dystrophy
	Synonym(s): - Del(17)(q11) - Monosomy 17q11 - NF1 microdeletion syndrome - Neurofibromatosis type 1 microdeletion syndrome		Synonym(s): - OPMD

	Classification (Orphanet): - Rare circulatory system disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare neurologic disease - Rare oncologic disease - Rare renal disease - Rare skin disease		Classification (Orphanet): - Rare eye disease - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the nervous system -

	Epidemiological data: (no data available)		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 - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: D039141

Oculopharyngeal muscular dystrophy
	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
17q11 microdeletion syndrome
(no data available)