Proteus Syndrome, Somatic malady
Genetic diseases, Rare diseases, Infectious diseases, Neuronal diseases, Cardiovascular diseases, Skin diseases, Fetal diseases categories
Aliases & Descriptions for Proteus Syndrome, Somatic:
MalaCards categories: See all MalaCards categories (disease lists)
Global: Genetic diseases, Rare diseases, Infectious diseases, Fetal diseases
Anatomical: Neuronal diseases, Cardiovascular diseases, Skin diseases
ICD10: 26 25
Rare neurological diseases
Rare circulatory system diseases
Rare skin diseases
Developmental anomalies during embryogenesis
Characteristics (Orphanet epidemiological data):48
Inheritance: Not applicable; Prevalence: <1/1000000 (Europe); Age of onset: Infancy; Age of death: any age
OMIM:46 Proteus syndrome is a highly variable, severe disorder of asymmetric and disproportionate overgrowth of body parts,... (176920) more...
MalaCards based summary: Proteus Syndrome, Somatic, also known as proteus syndrome, is related to lipomatosis and cowden syndrome 1, and has symptoms including tall stature, melanocytic nevus and multiple lipomas. An important gene associated with Proteus Syndrome, Somatic is AKT1 (v-akt murine thymoma viral oncogene homolog 1), and among its related pathways are PI-3K cascade and Focal adhesion. The compounds inositol 1,3,4,5-tetrakisphosphate and indole-3-carbinol have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and lung, and related mouse phenotype adipose tissue.
NIH Rare Diseases:42 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. last updated: 9/28/2011
CDC:2 Learn how to prevent DVT, a serious blood clot that can cause illness, disability, and even, death.
Genetics Home Reference:21 Proteus syndrome is a rare condition characterized by overgrowth of the bones, skin, and other tissues. Organs and tissues affected by the disease grow out of proportion to the rest of the body. The overgrowth is usually asymmetric, which means it affects the right and left sides of the body differently. Newborns with Proteus syndrome have few or no signs of the condition. Overgrowth becomes apparent between the ages of 6 and 18 months and gets more severe with age.
Wikipedia:64 Proteus syndrome, also known as Wiedemann syndrome (named after the German paediatrician Hans-Rudolf... more...
GeneReviews summary for proteus
Symptoms by clinical synopsis from OMIM:176920
Clinical features from OMIM:176920
Symptoms:48 (show all 95)
HPO human phenotypes related to Proteus Syndrome, Somatic:(show all 108)
MalaCards organs/tissues related to Proteus Syndrome, Somatic:31
Skin, Bone, Lung, Thymus, Ovary, Spleen, Cortex, Spinal cord, Heart, Tongue
UniProtKB/Swiss-Prot genetic disease variations for Proteus Syndrome, Somatic:63
Clinvar genetic disease variations for Proteus Syndrome, Somatic:5
Cosmic variations for Proteus Syndrome, Somatic:6
Search GEO for disease gene expression data for Proteus Syndrome, Somatic.
Pathways related to Proteus Syndrome, Somatic according to GeneCards Suite gene sharing:(show all 47)
Compounds related to Proteus Syndrome, Somatic according to GeneCards Suite gene sharing:(show all 32)
Biological processes related to Proteus Syndrome, Somatic according to GeneCards Suite gene sharing:(show all 15)
Molecular functions related to Proteus Syndrome, Somatic according to GeneCards Suite gene sharing:
26ICD10 via Orphanet
34MESH via Orphanet
47OMIM via Orphanet
57SNOMED-CT via Orphanet
62UMLS via Orphanet