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17q11 microdeletion syndrome

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

PROTEIN INTERACTIONS: 1

Proximal myotonic myopathy

1 OMIM reference -
1 associated gene
3 signs/symptoms

17q11 microdeletion syndrome

Proximal myotonic myopathy

NF1	(UniProt - OMIM)		CNBP	(UniProt - OMIM)
RNF135	(UniProt - OMIM)
SUZ12	(UniProt - OMIM)


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

Citations in the biomedical literature:

17q11 microdeletion syndrome		Proximal myotonic myopathy
	Synonym(s): - Del(17)(q11) - Monosomy 17q11 - NF1 microdeletion syndrome - Neurofibromatosis type 1 microdeletion syndrome		Synonym(s): - Myotonic dystrophy type 2 - Proximal myotonic dystrophy - Ricker disease - Ricker syndrome

	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 endocrine disease - Rare eye disease - Rare genetic disease - Rare infertility - 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: elderly Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: D020967

Proximal myotonic myopathy
	Very frequent - Autosomal dominant inheritance - Cataract / lens opacification - Myotonia
17q11 microdeletion syndrome
(no data available)