Details of Disease | DrugMAP

General Information of Disease (ID: DIS19G36)

Disease Name	Proteus-like syndrome
Synonyms	Proteus like syndrome intellectual disability eye defect; Proteus like syndrome mental retardation eye defect; Cohen-Hayden syndrome
Definition	Proteus-like syndrome describes patients who do not meet the diagnostic criteria for Proteus syndrome but who share a multitude of characteristic clinical features of the disease.
Disease Hierarchy	DISR6ULG: PTEN hamartoma tumor syndrome DISTXWNT: Integumentary system disorder DISGXLG5: Hereditary neoplastic syndrome DIS19G36: Proteus-like syndrome
Disease Identifiers	MONDO ID MONDO_0017571 MESH ID D016715 UMLS CUI C1866398 MedGen ID 356222 Orphanet ID 2969 SNOMED CT ID 716862002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
PTEN	TTEUQ4M	Supportive	Autosomal dominant	[1]
PTEN	TTXJ3W7	Strong	Genetic Variation	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PTEN	OTOWDUNT	Supportive	Autosomal dominant	[1]
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References

1	Germline and germline mosaic PTEN mutations associated with a Proteus-like syndrome of hemihypertrophy, lower limb asymmetry, arteriovenous malformations and lipomatosis. Hum Mol Genet. 2000 Mar 22;9(5):765-8. doi: 10.1093/hmg/9.5.765.
2	Immune dysregulation in patients with PTEN hamartoma tumor syndrome: Analysis of FOXP3 regulatory Tcells.J Allergy Clin Immunol. 2017 Feb;139(2):607-620.e15. doi: 10.1016/j.jaci.2016.03.059. Epub 2016 Jun 18.