Proteus Syndrome, Somatic malady
Categories: Genetic diseases, Rare diseases, Infectious diseases, Neuronal diseases, Cardiovascular diseases, Skin diseases, Fetal diseases
49OMIM, 11diseasecard, 10Disease Ontology, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 67UniProtKB/Swiss-Prot, 36MeSH, 24GTR, 65UMLS, 2CDC, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 27ICD10, 61The Human Phenotype Ontology
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Aliases & Descriptions for Proteus Syndrome, Somatic:
Orphanet epidemiological data:51
Inheritance: Not applicable; Prevalence: <1/1000000 (Europe); Age of onset: Infancy; Age of death: any age
proteus syndrome, somatic:
Global: Genetic diseases, Rare diseases, Infectious diseases, Fetal diseases
Anatomical: Neuronal diseases, Cardiovascular diseases, Skin diseases
ICD10: 28 27
Rare neurological diseases
Rare circulatory system diseases
Rare skin diseases
Developmental anomalies during embryogenesis
OMIM:49 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 astrocytoma and hepatocellular carcinoma, and has symptoms including lymphangioma, macrodactyly of finger and lower limb asymmetry. An important gene associated with Proteus Syndrome, Somatic is AKT1 (V-Akt Murine Thymoma Viral Oncogene Homolog 1), and among its related pathways are VEGF Signaling and TP53 Regulates Metabolic Genes. Affiliated tissues include skin, bone and lung, and related mouse phenotypes are tumorigenesis and endocrine/exocrine gland.
NIH Rare Diseases:45 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
UniProtKB/Swiss-Prot:67 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.
CDC:2 Learn how to prevent VTE, serious blood clots that can cause illness, disability, and even, death.
Genetics Home Reference:23 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:68 Proteus syndrome, also known as Wiedemann syndrome (named after the German pediatrician Hans-Rudolf... more...
GeneReviews summary for NBK99495
Symptoms by clinical synopsis from OMIM:176920
Clinical features from OMIM:176920
Symptoms:51 (show all 95)
HPO human phenotypes related to Proteus Syndrome, Somatic:(show all 104)
FDA approved drugs:
Interventional clinical trials:
Search NIH Clinical Center for Proteus Syndrome, Somatic
MalaCards organs/tissues related to Proteus Syndrome, Somatic:33
Skin, Bone, Lung, Ovary, Thymus, B cells, Tongue
MGI Mouse Phenotypes related to Proteus Syndrome, Somatic:38 (show all 16)
UniProtKB/Swiss-Prot genetic disease variations for Proteus Syndrome, Somatic:67
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 top 50) (show all 93)
Biological processes related to Proteus Syndrome, Somatic according to GeneCards Suite gene sharing:
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet