Details of Disease

General Information of Disease (ID: DISJ3VXH)

Disease Name	Proteus syndrome
Synonyms	Elattoproteus syndrome; hemihypertrophy and macrocephaly; partial gigantism of hands and feet, nevi, hemihypertrophy, macrocephaly; gigantism, partial, of hands and feet, nevi, hemihypertrophy, and macrocephaly; Wiedemann's syndrome; partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome; proteus syndrome, somatic; Proteus syndrome
Disease Class	LD2C: Overgrowth syndrome
Definition	Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems.
Disease Hierarchy	DIS6SVEE: Syndromic disease DISR6ULG: PTEN hamartoma tumor syndrome DIS5Z8U6: Skeletal dysplasia DISHK54G: Overgrowth syndrome DISJ3VXH: Proteus syndrome
ICD Code	ICD-11 ICD-11: LD2C ICD-10 ICD-10: Q87.3 Expand ICD-11 'LD2C Expand ICD-10 'Q87.3
Disease Identifiers	MONDO ID MONDO_0008318 MESH ID D016715 UMLS CUI C0085261 OMIM ID 176920 MedGen ID 39008 Orphanet ID 744 SNOMED CT ID 23150001

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 1 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
ARQ 092	DM5WK0J	Phase 2	NA	[1]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
PTEN	TTXJ3W7	moderate	Biomarker	[2]
AKT1	TTWTSCV	Strong	Biomarker	[3]
AKT1	TTWTSCV	Definitive	Autosomal dominant	[4]
PTEN	TTEUQ4M	Definitive	Somatic mosaicism	[5]
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This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
LEFTY2	OT3RX4QF	Strong	Biomarker	[6]
MYOG	OTPLJKFA	Strong	Biomarker	[7]
AKT1	OT8H2YY7	Definitive	Autosomal dominant	[4]
PTEN	OTOWDUNT	Definitive	Somatic mosaicism	[5]
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References

1	ClinicalTrials.gov (NCT04316546) ARQ 092 (Miransertib) in Proteus Syndrome. U.S. National Institutes of Health.
2	Cowden syndrome: what oncology nurses need to know about increased risk of developing certain cancers.Oncol Nurs Forum. 2014 Sep;41(5):555-7. doi: 10.1188/14.ONF.555-557.
3	First evidence of a therapeutic effect of miransertib in a teenager with Proteus syndrome and ovarian carcinoma.Am J Med Genet A. 2019 Jul;179(7):1319-1324. doi: 10.1002/ajmg.a.61160. Epub 2019 May 6.
4	A mosaic activating mutation in AKT1 associated with the Proteus syndrome. N Engl J Med. 2011 Aug 18;365(7):611-9. doi: 10.1056/NEJMoa1104017. Epub 2011 Jul 27.
5	Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.
6	Asymmetry: molecular, biologic, embryopathic, and clinical perspectives.Am J Med Genet. 2001 Jul 15;101(4):292-314. doi: 10.1002/ajmg.1217.
7	New insights into the pathogenesis of congenital myopathies.J Child Neurol. 1994 Apr;9(2):193-201. doi: 10.1177/088307389400900218.