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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:
| 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 |
| CHARACTERISTIC_TYPE_ID | 900000000000011006 | 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 |
| MODIFIER_ID | 900000000000451002 | SNOMEDCT_US |
| 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 |
| PT_IN_VERSION | 20.0 | MDR |
| PT_IN_VERSION | 20.1 | 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 |
| 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 | 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
