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17q11 microdeletion syndrome

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

PROTEIN INTERACTIONS: 1

Hypoplasminogenemia

1 OMIM reference -
1 associated gene
11 signs/symptoms

17q11 microdeletion syndrome

Hypoplasminogenemia

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


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

Citations in the biomedical literature:

17q11 microdeletion syndrome		Hypoplasminogenemia
	Synonym(s): - Del(17)(q11) - Monosomy 17q11 - NF1 microdeletion syndrome - Neurofibromatosis type 1 microdeletion syndrome		Synonym(s): - Plasminogen deficiency type 1

	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 genetic disease - Rare systemic or rheumatologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): (no data available)

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: variable Average age of death: - Type of inheritance: autosomal recessive

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

Hypoplasminogenemia
	Very frequent - Anomalies of eyes and vision Frequent - Anomalies of tongue, gingiva and oral mucosa Occasional - Abnormal / polycystic ovaries - Anomalies of skin, subcutaneous tissue and mucosae - Dandy-Walker anomaly - Hydrocephaly - Intestinal / colonic anomaly - Structural anomalies of middle ear / ossicles / tympanic cavity - Structural anomalies of the respiratory system and diaphragm - Urinary / renal lithiasis / kidney stones / nephritic colic - Uterine / uterus / Fallopian tubes anomalies
17q11 microdeletion syndrome
(no data available)