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Silver-Russell syndrome due to 11p15 microduplication

2 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Hypoplasminogenemia

1 OMIM reference -
1 associated gene
11 signs/symptoms

Silver-Russell syndrome due to 11p15 microduplication

Hypoplasminogenemia

H19	(OMIM)		PLG	(UniProt - OMIM)
IGF2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	IGF2	(0.52)	PLG

Citations in the biomedical literature:

Silver-Russell syndrome due to 11p15 microduplication		Hypoplasminogenemia
	Synonym(s): (no synonyms)		Synonym(s): - Plasminogen deficiency type 1

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare oncologic 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: Class of prevalence: - Average age onset: - Average age of death: - Type of inheritance: autosomal dominant		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: No OMIM references 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
Silver-Russell syndrome due to 11p15 microduplication
(no data available)