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.
Year introduced: 2009
PubMed search builder options
Subheadings:
Tree Number(s): C04.445.622, C04.588.614.250.195.885.500.299, C05.660.585.600.374, C10.228.140.211.885.500.299, C10.228.140.617.477.299, C10.551.240.250.700.500.249, C16.131.077.690, C16.131.621.585.600.374
MeSH Unique ID: D054975
Entry Terms:
- Pallister Hall Syndrome
- Syndrome, Pallister-Hall
- Hypothalamic Hamartoblastoma, Hypopituitarism, Imperforate Anus, and Postaxial Polydactyly
- Cerebroacrovisceral Early Lethality Complex
- Hall-Pallister Syndrome
- Hall Pallister Syndrome
- Syndrome, Hall-Pallister
- Hypothalamic Hamartoblastoma Syndrome
- Hamartoblastoma Syndrome, Hypothalamic
- Hamartoblastoma Syndromes, Hypothalamic
- Hypothalamic Hamartoblastoma Syndromes
- Syndrome, Hypothalamic Hamartoblastoma
- Syndromes, Hypothalamic Hamartoblastoma
- CAVE Complex
- CAVE Complices
- Complex, CAVE
- Complices, CAVE