GenTIGSA Gene Database on Rare Genetic Disorders
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Proteus Syndrome  
Disease Aliases (14)

Elattoproteus syndrome

Elephant man disease

Gigantism, partial, of hands and feet, nevi, hemihypertrophy, and macrocephaly

Hemihypertrophy and macrocephaly

Macrocephaly mesodermal hamartoma spectrum

Proteus syndrome, somatic

Partial gigantism - nevi - hemihypertrophy - macrocephaly

Partial gigantism of hands and feet, nevi, hemihypertrophy, macrocephaly

Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome

Proteus like syndrome

Proteus syndrome

Proteus-like syndrome

Syndrome, proteus-like

Wiedemann's syndrome

Associated Genes (2)
 

NCBI-RefSeq:  PTEN   (Phosphatase and tensin homolog)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  AKT1   (AKT serine/threonine kinase 1)

External Links:  gnomAD browser   Ensembl   GeneCards

 


Cross-references of Proteus syndrome OMIM GARD Orphanet NCBI-GTR NCBI-MedGen MalaCards      MeSH Annotations