Hedgehog Signaling Pathway Database
 
Index: Hedgehog Pathway-associated Diseases

Disease/Genetic Disorder Tissue affected Gene General Information Molecular Information References
Acrocapitofemoral Dysplasia (ACFD) skeletal ihh   OMIM Hellemans et. al. (2003) Am. J. Hum. Genet. 72: 1040-1046
Brachydactyly,Type A1 (BDA1) Limbs ihh   OMIM Gao et. al. (2001) Nature Genet. 28: 386-388
Breast Cancer Breast ptch1, gli1 National Cancer Institute OMIM Kubo M. et.al. (2004) Cancer Res. 64:6071-6074
Coloboma,Ocular Eye shh   OMIM Schimmenti et. al. (2003) Am. J. Med. Genet. 116: 215-221,
  • Coloboma,Uveoretinal
          
  • Coloboma of Iris,Choroid and Retina (COI)
         
Desmosterolosis   shh,ihh,dhh   OMIM  
Enchondromatosis, Multiple Maffucci Syndrome Bone     OMIM Hopyan et al. (2002) Nat Genet. 30:306-10
  • Osteochondromatosis
       OMIM  
  • Dyschondroplasia
       OMIM  
  • Ollier Disease
      OMIM  
Esophageal Cancer Esophagus   National Cancer Institute OMIM Watkins and Peacock (2004)Biochem Pharmacol. 68:1055-60; Berman DM et.al. (2003) Nature 425:846-851
  • Squamous Cell Carcinoma
 Epithelial   MedLine OMIM Berman DM et.al. (2003) Nature 425:846-851
           
Exostoses, Multiple (EXT) Limbs ext1,ext2,ext3   OMI M  
  • Multiple Cartilaginous Exostoses
         
  • Diaphyseal Aclasis
          
  • Multiple Osteochondromatosis
          
Gastric Cancer esophagus, stomach, biliary tract, and pancreas shh,ihh,ptch,smo Natioinal Cancer Institute OMIM Berman DM et.al. (2003) Nature 425:846-851
Glioblastoma Neuronal   National Cancer Institute    
Gonadal Dysgenesis Gonads dhh   OMIM Umehara et. al. (2000) Am. J. Hum. Genet. 67: 1302-1305
Disease/Genetic Disorder Tissue affected Gene General Information Molecular Information References
Holoprocencephaly (HPE) Brain shh NINDS   Nanni et. al. (1999) Hum Mol Genet. 8:2479-2488
  • Holoprocencephaly 3
       OMIM  
  • Holoprocencephaly 4
       OMIM  
  • Holoprocencephaly 7
       OMIM  
  • Pituitary Anomalies with Holoprocencephaly-Like Features
Pituitary gli2   OMIM  
Medulloblastoma Brain ptch,gli1,smo National Cancer Institute OMIM Berman et. al. (2002) Science 297: 1559-1561
Nevoid Basal Cell Carcinoma Syndrome (NBCCS) Skin   MedLine OMIM Hahn et.al. (1996) Cell 85:841-851; Johnson et. al. (1996) Science 272:1668-1671
  • Basal Cell Carcinoma
   ptch,ptch2,smo,gli1,gli2 MedLine OMIM  
  • Multiple basal cell nevi, odontogenic keratocysts and Skeletal Anomalies
          
  • Fifth Phacomatosis
          
  • Gorlin Syndrome
   ptch      
  • Gorlin-Goltz Syndrome
         
  • Hydrocephalus, Costovertebral Dysplasia and Sprengel Anomaly
          
Disease/Genetic Disorder Tissue affected Gene General Information Molecular Information References
Pallister-Hall Syndrome   gli3 GeneTests,UW OMIM Kang et. al. (1997) Nature Genet. 15: 266-268
  • Grieg Cephalopolysydactyly (GCPS)
      OMIM Kang et. al. (1997) Nature Genet. 15: 266-268
  • Hypothalamic Hamartoblastom
          
  • Hypopituitarism
          
  • Imperforate Anus
          
  • Preaxial Polydactyly TypeIV
         
  • Postaxial polydactyly TypeA
Limbs        
Pancreatic Cancer Pancreas   National Cancer Institute OMIM Thayer S.P. et.al. (2003) Nature 425:851-856
Prostate Cancer Prostate smo,ptch,HIP National Cancer Institute   Karhadkar S.S. (2004) Nature 431:707-712; Sanchez P. (2004) PNAS 101:12561-12566
Rhabdomyosarcoma head, neck, urogenital tract, and limbs smo,ptch MedLine   Kappler et. al. (2004) Oncogene 23:8785-8795
Small-Cell Lung Cancer (SCLC) Lung smo,ptch,HIP National Cancer Institute OMIM Watkins DN et.al. (2003) Nature 422:313-317
 
Smith-Lemli-Opitz Syndrome (SLO) (Lipids)

shh,ihh,dhh

 GeneTests,UW OMIM Porter et.al. (1996) Science 274: 255-258
  • RSH Syndrome
          
  • Rutledge Lethal Multiple Congenital Anomaly Syndrome
         
  • Polydactyly, sex reversal, renal hypoplasia, and unilobular lung
          
  • Lethal Acrodysgenital Syndrome
          
Solitary Median. Maxillary Central Incisor Syndrome (SMMCI)   shh   OMIM Nanni et.al. (2001) Am J Med Genet. 102:1-10
VACTERL skeletal, cardiac, renal, limb gli1,2,3   OMIM Kim et. al. (2001) Clin. Genet. 59: 306-315

Last updated 28-Aug-2006

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