Pallister-Hall Syndrome

A pleiotropic disorder of human development that comprises hypothalamic HAMARTOMA; central and postaxial POLYDACTYLY; bifid EPIGLOTTIS; ANAL ATRESIA; and renal and other abnormalities. This disorder is associated with FRAMESHIFT MUTATIONS in the GLI3 gene which encodes the GLI3 protein, a KRUPPEL-LIKE TRANSCRIPTION FACTORS family member.

Also Known As:

CAVE Complex; Cerebroacrovisceral Early Lethality Complex; Hall-Pallister Syndrome; Hypothalamic Hamartoblastoma Syndrome; Hypothalamic Hamartoblastoma, Hypopituitarism, Imperforate Anus, and Postaxial Polydactyly; CAVE Complices; Complex, CAVE; Complices, CAVE; Hall Pallister Syndrome; Hamartoblastoma Syndrome, Hypothalamic; Hamartoblastoma Syndromes, Hypothalamic; Hypothalamic Hamartoblastoma Syndromes; Pallister Hall Syndrome; Syndrome, Hall-Pallister; Syndrome, Hypothalamic Hamartoblastoma; Syndrome, Pallister-Hall; Syndromes, Hypothalamic Hamartoblastoma

Neoplasms: 1324753
- Hamartoma: 1333
  - Pallister-Hall Syndrome: 29
- Neoplasms by Site: 4
  - Nervous System Neoplasms: 235
    - Central Nervous System Neoplasms: 818
      - Brain Neoplasms: 25077
        Supratentorial Neoplasms: 185
        Hypothalamic Neoplasms: 57
        Pallister-Hall Syndrome: 29
Musculoskeletal Diseases: 719
- Musculoskeletal Abnormalities: 43
  - Congenital Limb Deformities: 8
    - Polydactyly: 308
      - Pallister-Hall Syndrome: 29
Nervous System Diseases: 14178
- Central Nervous System Diseases: 4213
  - Brain Diseases: 15694
    - Brain Neoplasms: 25077
      - Supratentorial Neoplasms: 185
        Hypothalamic Neoplasms: 57
        Pallister-Hall Syndrome: 29
    - Hypothalamic Diseases: 40
      - Hypothalamic Neoplasms: 57
        Pallister-Hall Syndrome: 29
- Nervous System Neoplasms: 235
  - Central Nervous System Neoplasms: 818
    - Brain Neoplasms: 25077
      - Supratentorial Neoplasms: 185
        Hypothalamic Neoplasms: 57
        Pallister-Hall Syndrome: 29
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Multiple Abnormalities: 211
    - Pallister-Hall Syndrome: 29
  - Musculoskeletal Abnormalities: 43
    - Congenital Limb Deformities: 8
      - Polydactyly: 308
        Pallister-Hall Syndrome: 29

Nicole Boivin Selected Research

Nicole Boivin Research Topics

Disease

Drug/Important Bio-Agent (IBA)