Proteus Syndrome, Somatic malady
Categories: Genetic diseases, Rare diseases, Infectious diseases, Neuronal diseases, Cardiovascular diseases, Skin diseases, Fetal diseases
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Aliases & Descriptions for Proteus Syndrome, Somatic:
Orphanet epidemiological data:53
Inheritance: Not applicable; Prevalence: <1/1000000 (Europe); Age of onset: Infancy; Age of death: any age
proteus syndrome, somatic:
Penetrance: incomplete penetrance cannot be assessed in a mosaic genetic disorder that is not inherited. ...
Global: Genetic diseases, Rare diseases, Infectious diseases, Fetal diseases
Anatomical: Neuronal diseases, Cardiovascular diseases, Skin diseases
ICD10: 30 29
Rare neurological diseases
Rare circulatory system diseases
Rare skin diseases
Developmental anomalies during embryogenesis
OMIM:51 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 pten-related proteus syndrome and macrocephaly mesodermal hamartoma spectrum, and has symptoms including tall stature, melanocytic nevus and multiple lipomas. An important gene associated with Proteus Syndrome, Somatic is AKT1 (AKT Serine/Threonine Kinase 1), and among its related pathways are Development_Leptin signaling via PI3K-dependent pathway and Carbohydrate digestion and absorption. Affiliated tissues include skin, bone and lung, and related mouse phenotypes are neoplasm and endocrine/exocrine gland.
UniProtKB/Swiss-Prot:69 Proteus syndrome: A highly variable, severe disorder of asymmetric and disproportionate overgrowth of body parts, connective tissue nevi, epidermal nevi, dysregulated adipose tissue, and vascular malformations. Many features of Proteus syndrome overlap with other overgrowth syndromes.
Genetics Home Reference:25 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.
NIH Rare Diseases:47 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
Wikipedia:70 Proteus syndrome, also known as Wiedemann syndrome (named after the German pediatrician Hans-Rudolf... more...
GeneReviews for NBK99495
Human phenotypes related to Proteus Syndrome, Somatic:63 53 (show all 137)
Interventional clinical trials:
Search NIH Clinical Center for Proteus Syndrome, Somatic
MalaCards organs/tissues related to Proteus Syndrome, Somatic:35
Skin, Bone, Lung, Ovary, Thymus, Heart, Cortex
MGI Mouse Phenotypes related to Proteus Syndrome, Somatic:40
UniProtKB/Swiss-Prot genetic disease variations for Proteus Syndrome, Somatic:69
Clinvar genetic disease variations for Proteus Syndrome, Somatic:5
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 42)
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:
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet