loading...| Preferred Name |
Proteus syndrome |
|
| Synonyms |
Proteus syndrome (disorder) |
|
| Definitions |
A very rare and complex hamartomatous overgrowth disorder with characteristics of progressive overgrowth of the skeleton, skin, adipose, and central nervous systems. Neonates usually appear normal at birth. Onset usually occurs from 6-18 months of age with asymmetric overgrowth seen mainly in the hands or feet. Causal mutations have been reported in two components of the phosphatidylinositol 3-kinase (PI3K)-AKT pathway: PTEN and AKT1. The AKT1 mutation is a somatic mosaic. PTEN mutations have been reported both in the constitutive DNA and as somatic mosaic mutations. The disease is not inherited in those with a somatic AKT1 de novo mutation; PTEN mutations are inherited autosomal dominantly. |
|
| ID |
http://purl.bioontology.org/ontology/SNOMEDCT/23150001 |
|
| Active |
1 |
|
| altLabel |
Proteus syndrome (disorder) |
|
| CASE SIGNIFICANCE ID |
900000000000017005 |
|
| CTV3ID |
X207l |
|
| cui |
C0085261 |
|
| definition |
A very rare and complex hamartomatous overgrowth disorder with characteristics of progressive overgrowth of the skeleton, skin, adipose, and central nervous systems. Neonates usually appear normal at birth. Onset usually occurs from 6-18 months of age with asymmetric overgrowth seen mainly in the hands or feet. Causal mutations have been reported in two components of the phosphatidylinositol 3-kinase (PI3K)-AKT pathway: PTEN and AKT1. The AKT1 mutation is a somatic mosaic. PTEN mutations have been reported both in the constitutive DNA and as somatic mosaic mutations. The disease is not inherited in those with a somatic AKT1 de novo mutation; PTEN mutations are inherited autosomal dominantly. |
|
| DEFINITION STATUS ID |
900000000000074008 |
|
| Effective time |
20020131 |
|
| Has associated morphology |
http://purl.bioontology.org/ontology/SNOMEDCT/51398009 http://purl.bioontology.org/ontology/SNOMEDCT/25723000 |
|
| Has finding site |
http://purl.bioontology.org/ontology/SNOMEDCT/39937001 |
|
| Has pathological process | ||
| notation |
23150001 |
|
| Occurs in | ||
| prefLabel |
Proteus syndrome |
|
| Subset member |
447562003~MAPRULE~TRUE 6011000124106~MAPGROUP~1 6011000124106~MAPADVICE~ALWAYS Q85.9 447562003~MAPGROUP~1 447562003~CORRELATIONID~447561005 6011000124106~MAPCATEGORYID~447637006 900000000000509007~ACCEPTABILITYID~900000000000548007 900000000000508004~ACCEPTABILITYID~900000000000548007 447562003~MAPTARGET~Q82.8 447562003~MAPPRIORITY~1 447562003~MAPCATEGORYID~447637006 6011000124106~MAPTARGET~Q85.9 447562003~MAPADVICE~ALWAYS Q87.3 447562003~MAPADVICE~ALWAYS Q82.8 900000000000497000~MAPTARGET~X207l 6011000124106~MAPPRIORITY~1 447562003~MAPTARGET~Q87.3 6011000124106~CORRELATIONID~447561005 6011000124106~MAPRULE~TRUE |
|
| tui |
T191 |
|
| Type ID |
900000000000003001 900000000000013009 |
|
| subClassOf |
http://purl.bioontology.org/ontology/SNOMEDCT/699346009 http://purl.bioontology.org/ontology/SNOMEDCT/363070008 http://purl.bioontology.org/ontology/SNOMEDCT/363235000 http://purl.bioontology.org/ontology/SNOMEDCT/48637007 http://purl.bioontology.org/ontology/SNOMEDCT/78572006 http://purl.bioontology.org/ontology/SNOMEDCT/105986008 http://purl.bioontology.org/ontology/SNOMEDCT/88425004 http://purl.bioontology.org/ontology/SNOMEDCT/363185004 |