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17q11 microdeletion syndrome

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

PROTEIN INTERACTIONS: 1

Frasier syndrome

1 OMIM reference -
1 associated gene
7 signs/symptoms

17q11 microdeletion syndrome

Frasier syndrome

NF1	(UniProt - OMIM)		WT1	(UniProt - OMIM)
RNF135	(UniProt - OMIM)
SUZ12	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SUZ12	(0.63)	WT1

Citations in the biomedical literature:

17q11 microdeletion syndrome		Frasier syndrome
	Synonym(s): - Del(17)(q11) - Monosomy 17q11 - NF1 microdeletion syndrome - Neurofibromatosis type 1 microdeletion syndrome		Synonym(s): (no synonyms)

	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 developmental defect during embryogenesis - Rare endocrine disease - Rare genetic disease - Rare gynecologic or obstetric disease - Rare oncologic disease - Rare renal disease - Rare urogenital disease

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

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood 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: D052159

Frasier syndrome
	Very frequent - Late puberty / hypogonadism / hypogenitalism - Male pseudohermaphrodism / lack of virilisation - Primary amenorrhea Frequent - Nephrotic syndrome - Proteinuria - Renal failure - Renal glomerular defect / glomerulopathy
17q11 microdeletion syndrome
(no data available)