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Proteus Syndrome (CUI C0085261) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0085261

NCI Thesaurus Code: C85032  (see NCI Thesaurus info)

Semantic Type: Disease or Syndrome

NCIt Definition: A very rare congenital disorder characterized by the development of multiple cutaneous and subcutaneous lesions including lipomas, nevi, and vascular malformations, associated with partial gigantism or digital overgrowth.

GARD Definition: Proteus syndrome is characterized by excessive growth of a part or portion of the body. The overgrowth can cause differences in appearance and with time, an increased risk for blood clots and tumors. It is caused by a change (mutation) in the AKT1 gene. It is not inherited, but occurs as a random mutation in a body cell in a developing baby (fetus) early in pregnancy. The AKT1 gene mutation affects only a portion of the body cells.  This is why only a portion of the body is affected and why individuals with Proteus syndrome can be very differently affected. Management of the condition often requires a team of specialists with knowledge of the wide array of features and complications of this condition. - this information is from GARD/ORDR/NCATS.

MSH Definition: Hamartoneoplastic malformation syndrome of uncertain etiology characterized by partial GIGANTISM of the hands and/or feet, asymmetry of the limbs, plantar hyperplasia, hemangiomas (HEMANGIOMA), lipomas (LIPOMA), lymphangiomas (LYMPHANGIOMA), epidermal NEVI; MACROCEPHALY; cranial HYPEROSTOSIS, and long-bone overgrowth. Joseph Merrick, the so-called "elephant man", apparently suffered from Proteus syndrome and not NEUROFIBROMATOSIS, a disorder with similar characteristics.

Synonyms & Abbreviations: (see Synonym Details)
Elephant Man Disease
ELEPHANT MAN DIS
Proteus syndrome (disorder)
Proteus Syndrome [Disease/Finding]
Proteus syndrome

External Source Codes: 
NCI Thesaurus Code C85032 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
AN hamartomas & multiple abnorm; "Proteus" refers to the sea god in Greek mythol who could assume many forms; do not use /congen & do not coord with INFANT, NEWBORN, DISEASES MSH
AQL BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI MSH
CASE_SIGNIFICANCE_ID 900000000000017005 SNOMEDCT_US
CTV3ID X207l SNOMEDCT_US
DC 1 MSH
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
DX 19920101 MSH
EFFECTIVE_TIME 20020131 SNOMEDCT_US
GENELOCUS ,1,4,q,3,2,.,3, OMIM
GENESYMBOL AKT1 OMIM
GENESYMBOL CWS6 OMIM
HAS_GARD_PAGE true GARD
HN 92 MSH
IS_RARE true GARD
IS_SPANISH false GARD
LAST_REVIEW_ACTION Modified GARD
LAST_REVIEW_DATE 2014-03-10T00:00:00 GARD
MDA 19910621 MSH
MESH_DEFINITION Hamartoneoplastic malformation syndrome of uncertain etiology characterized by partial GIGANTISM of the hands and/or feet, asymmetry of the limbs, plantar hyperplasia, hemangiomas (HEMANGIOMA), lipomas (LIPOMA), lymphangiomas (LYMPHANGIOMA), epidermal NEVI; MACROCEPHALY; cranial HYPEROSTOSIS, and long-bone overgrowth. Joseph Merrick, the so-called "elephant man", apparently suffered from Proteus syndrome and not NEUROFIBROMATOSIS, a disorder with similar characteristics. NDFRT
MESH_DUI D016715 NDFRT
MESH_NAME Proteus Syndrome NDFRT
MESH_UI M0025456 NDFRT
MIMTYPE 3 OMIM
MIMTYPEMEANING Phenotype description, molecular basis known. OMIM
MIMTYPEVALUE pound OMIM
MMR 20130708 MSH
MN C04.445.435.500 MSH
MN C04.651.435.500 MSH
MN C05.116.099.750 MSH
MN C05.660.585.620 MSH
MN C16.131.077.740 MSH
MN C16.131.621.585.620 MSH
NDFRT_KIND DISEASE_KIND NDFRT
NUI N0000003460 NDFRT
PM 92 MSH
PRIMARY_PATH 10074067$10029513$10028396$10010331$Proteus syndrome$Musculoskeletal disorders congenital NEC$Musculoskeletal and connective tissue disorders congenital$Congenital, familial and genetic disorders MDR
PRIMARY_SOC 10010331 MDR
PT_IN_VERSION 16.1 MDR
PT_IN_VERSION 17.0 MDR
PT_IN_VERSION 17.1 MDR
PT_IN_VERSION 18.0 MDR
PT_IN_VERSION 18.1 MDR
PT_IN_VERSION 19.0 MDR
PT_IN_VERSION 19.1 MDR
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/7475/proteus-syndrome/resources/1 GARD
RXAUI 3153430 RXNORM
RXAUI 3225224 RXNORM
RXAUI 3225225 RXNORM
RXCUI 1025713 RXNORM
SMQ_TERM_ADDVERSION 16.1 MDR
SMQ_TERM_CAT A MDR
SMQ_TERM_LEVEL 4 MDR
SMQ_TERM_LMVERSION 16.1 MDR
SMQ_TERM_SCOPE 2 MDR
SMQ_TERM_STATUS A MDR
SMQ_TERM_WEIGHT 0 MDR
SNOMED_CID 23150001 NDFRT
SNOMEDID D4-01028 SNOMEDCT_US
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS Q87.3 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPTARGET~Q87.3 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS Q85.9 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~Q85.9 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~X207l SNOMEDCT_US
SUBSET_MEMBER 900000000000498005~MAPTARGET~D4-01028 SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
TERMUI T050088 MSH
TERMUI T050089 MSH
TH GHR (2014) MSH
TH NLM (1992) MSH
TH OMIM (2013) MSH
TH ORD (2010) MSH
TYPE_ID 900000000000003001 SNOMEDCT_US
TYPE_ID 900000000000013009 SNOMEDCT_US

Additional Concept Data:  (none)

URL to Bookmark: https://ncim-stage.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI Metathesaurus&code=C0085261

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