MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO
Disease Browser
Parent Node:
expandhereditary neoplastic syndrome (MONDO:0015356)
..Starting node
..expandpolymalformative genetic syndrome with increased risk of developing cancer ()

       Child Nodes:
........expandAicardi syndrome ()
........expandAlagille syndrome ()
........expandataxia - telangiectasia-like disorder ()
........expandataxia telangiectasia ()
........expandBazex syndrome ()
........expandBeckwith-Wiedemann syndrome ()
........expandBloom syndrome ()
........expandCBL-related disorder ()
........expandCernunnos-XLF deficiency ()
........expandCockayne syndrome ()
........expandCostello syndrome ()
........expandDenys-Drash syndrome ()
........expandDiamond-Blackfan anemia ()
........expandDNA ligase IV deficiency ()
........expandFanconi anemia ()
........expandFrasier syndrome ()
........expandisolated hemihyperplasia ()
........expandMcCune-Albright syndrome ()
........expandmegalencephaly-capillary malformation-polymicrogyria syndrome ()
........expandmosaic variegated aneuploidy syndrome ()
........expandNijmegen breakage syndrome ()
........expandNijmegen breakage syndrome-like disorder ()
........expandNoonan syndrome ()
........expandNoonan syndrome with multiple lentigines ()
........expandoligodontia-cancer predisposition syndrome ()
........expandPerlman syndrome ()
........expandPeutz-Jeghers syndrome ()
........expandPTEN hamartoma tumor syndrome ()
........expandRothmund-Thomson syndrome type 2 ()
........expandRubinstein-Taybi syndrome ()
........expandSaethre-Chotzen syndrome ()
........expandSchC6pf-Schulz-Passarge syndrome ()
........expandSchinzel-Giedion syndrome ()
........expandShwachman-Diamond syndrome ()
........expandSilver-Russell syndrome ()
........expandSimpson-Golabi-Behmel syndrome ()
........expandSotos syndrome ()
........expandtuberous sclerosis complex ()
........expandtyrosinemia type I ()
........expandWAGR syndrome ()
........expandWarsaw breakage syndrome ()
........expandWerner syndrome ()
........expandWiskott-Aldrich syndrome ()
........expandxeroderma pigmentosum ()
........expandxeroderma pigmentosum-Cockayne syndrome complex ()



 Sister Nodes: 
..expandBAP1-related tumor predisposition syndrome ()
..expandblue rubber bleb nevus ()
..expandCarney-Stratakis syndrome ()
..expandcherubism ()
..expandchromosome 5q deletion syndrome ()
..expandCobb syndrome ()
..expandcombined immunodeficiency due to OX40 deficiency ()
..expandcommon variable immunodeficiency ()
..expandconstitutional mismatch repair deficiency syndrome ()
..expandDDX41-related hematologic malignancy predisposition syndrome ()
..expanddyskeratosis congenita ()
..expandfamilial atypical multiple mole melanoma syndrome ()
..expandfamilial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome ()
..expandfamilial isolated hyperparathyroidism ()
..expandfamilial multinodular goiter ()
..expandfamilial rhabdoid tumor ()
..expandhereditary breast ovarian cancer syndrome ()
..expandhereditary multiple osteochondromas ()
..expandhereditary retinoblastoma ()
..expandhereditary thrombocytopenia with normal platelets-hematological cancer predisposition syndrome ()
..expandinherited digestive cancer-predisposing syndrome ()
..expandinherited renal cancer-predisposing syndrome ()
..expandKostmann syndrome ()
..expandLi-Fraumeni syndrome ()
..expandlymphoproliferative syndrome ()
..expandMaffucci syndrome ()
..expandmelanoma and neural system tumor syndrome ()
..expandMITF-related melanoma and renal cell carcinoma predisposition syndrome ()
..expandmultiple endocrine neoplasia ()
..expandmultiple self-healing squamous epithelioma ()
..expandN syndrome ()
..expandneurofibromatosis ()
..expandnevoid basal cell carcinoma syndrome ()
..expandOllier disease ()
..expandpigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome ()
..expandpolymalformative genetic syndrome with increased risk of developing cancer ()
..expandprogeroid features-hepatocellular carcinoma predisposition syndrome ()
..expandRothmund-Thomson syndrome ()
..expandSC phocomelia syndrome ()
..expandtuberous sclerosis ()
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:15945
Name:polymalformative genetic syndrome with increased risk of developing cancer
Definition:Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:PGSIRC
Slim Mappings:
Reference: MedGen:
MeSH:
OMIM:
MSeqDR LSDB:  
Genes:
Phenotypes
Disease Causing ClinVar Variants
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