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

Networked: 29 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Greig cephalopolysyndactyly syndrome
2.	Polydactyly (Polydactylism)
3.	Hypothalamic hamartomas
4.	Aicardi Syndrome
5.	Syndactyly (Polysyndactyly)

Experts

1.	Biesecker, Leslie G: 3 articles (07/2008 - 03/2003)
2.	Killoran, Christina: 2 articles (04/2005 - 03/2003)
3.	Biesecker, L G: 2 articles (03/2001 - 02/2001)
4.	Baas, Martijn: 1 article (01/2021)
5.	Boivin, Nicole: 1 article (01/2021)
6.	Burger, Elise Bette: 1 article (01/2021)
7.	Crowther, Alison: 1 article (01/2021)
8.	Faulkner, Patrick: 1 article (01/2021)
9.	Galjaard, Robert Jan H: 1 article (01/2021)
10.	Hovius, Steven Er: 1 article (01/2021)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Pallister-Hall Syndrome:

1.	Transcription Factors (Transcription Factor)IBA 07/16/2008 - "Truncating mutations in the transcription factor GLI3, a downstream effector of the Hedgehog (HH) pathway, lead to a partial loss of HH signaling and cause Pallister-Hall syndrome (PHS). " 01/01/2005 - "GLI3 is a transcription factor from the GLI-Kruppel gene family that has been implicated in three distinct entities: GCPS, Pallister-Hall syndrome, and postaxial polydactyly type A. " 10/15/2009 - "Mutations in the transcription factor GLI3, a downstream target of Sonic Hedgehog (SHH) signaling, are responsible for the development of malformation syndromes such as Greig-cephalopolysyndactyly-syndrome (GCPS), or Pallister-Hall-syndrome (PHS). " 04/01/2005 - "Mutations in the GLI3 zinc-finger transcription factor gene cause Greig cephalopolysyndactyly syndrome (GCPS) and Pallister-Hall syndrome (PHS), which are variable but distinct clinical entities. " 03/16/1999 - "Truncation mutations of the GLI3 zinc finger transcription factor can cause Greig cephalopolysyndactyly syndrome (GCPS), Pallister-Hall syndrome (PHS), and postaxial polydactyly type A (PAP-A). "
2.	Growth Hormone (Somatotropin)IBA 03/01/2001 - "We conclude that children with Pallister-Hall syndrome and short stature be evaluated carefully for spontaneous somatotropic function and, if necessary, treated with growth hormone." 03/01/2001 - "We describe a case of Pallister-Hall syndrome with growth hormone neurosecretory dysfunction, successfully treated with growth hormone until attainment of final height. " 03/01/2001 - "Long-term treatment with growth hormone improves final height in a patient with Pallister-Hall syndrome." 01/01/2001 - "We report a case of Pallister-Hall syndrome with microphallus and without growth hormone deficiency that has been followed successfully for two years. " 02/01/2001 - "Evidence for decreased growth hormone in patients with hypothalamic hamartoma due to Pallister-Hall syndrome."
3.	Proteins (Proteins, Gene)FDA Link 03/01/2011 - "Genetic mutations that generate a truncated GLI3 protein similar in size to the repressor in humans with Pallister-Hall syndrome (PHS; a disorder whose characteristics include renal abnormalities) and hydroureter implicate Hh-dependent signaling in ureter morphogenesis and function. " 06/01/1999 - "These results thus provide a molecular basis for the human Polydactyly type A and Pallister-Hall Syndrome phenotypes, derived from the deregulated production of C-terminally truncated GLI3 proteins. "
4.	DNA (Deoxyribonucleic Acid)IBA 01/01/2021 - "Pathogenic DNA variants in the GLI-Kruppel family member 3 (GLI3) gene are known to cause multiple syndromes: for example, Greig syndrome, preaxial polydactyly-type 4 (PPD4) and Pallister-Hall syndrome. " 10/01/2010 - "Several human diseases, including Pallister-Hall syndrome and mucolipidosis, can be initiated by mtDNA insertion mutagenesis of nuclear DNA. "
5.	CholesterolIBA 11/01/1996 - "Exclusion of candidate loci and cholesterol biosynthetic abnormalities in familial Pallister-Hall syndrome." 08/01/1995 - "Together with the absence of anomalies of cholesterol metabolism, a combination of oral frenula, laryngeal malformations, digestive abnormalities, intercalary polysyndactyly, generalised brachytelephalangism, and nail hypoplasia should allow the delineation of Pallister-Hall syndrome, even when a CNS tumour is absent. "
6.	Calcium Carbonate (Limestone)FDA Link 01/01/2021 - "Here, we present data from Panga ya Saidi, a limestone cave complex located 15 km from the modern Kenyan coast, which represents the first long-term sequence of coastal engagement from eastern Africa. " 08/01/2009 - "A rare example of a terrestrial ecosystem sustained by chemoautotrophy is found within the sulfide-rich Frasassi limestone cave complex of central Italy. "
7.	Transcription Factor 3IBA 10/12/2018 - "These tumors are most often sporadic but rarely can be associated with Pallister-Hall syndrome, an autosomal dominant familial syndrome caused by truncation of glioblastoma transcription factor 3, a downstream effector in the sonic hedgehog pathway. "
8.	Tuberculin (PPD)IBA 05/01/2005 - "Human GLI3 gene mutations have been identified in several phenotypes of digital abnormality such as Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, preaxial polydactyly type-IV (PPD-IV) and postaxial polydactyly. "
9.	SulfurIBA 08/01/2009 - "ictus throughout the large cave complex are colonized by a single phylotype of bacteria in the sulfur-oxidizing clade Thiothrix. "
10.	Sulfides (Thioethers)IBA 08/01/2009 - "A rare example of a terrestrial ecosystem sustained by chemoautotrophy is found within the sulfide-rich Frasassi limestone cave complex of central Italy. "

Therapies and Procedures

1.	Airway Management 02/23/2018 - "We describe the airway management under general anesthesia of a 15-year-old female with Pallister-Hall syndrome whose airway was compromised with bifid epiglottis and acquired subglottic stenosis. "
2.	Laser Therapy (Surgery, Laser) 01/01/2023 - "Research on HH has steadily switched its emphasis from Pallister-Hall syndrome (PHS) and precocious puberty to epilepsy and new diagnostic and therapeutic techniques, including Gamma Knife, laser ablation, and interstitial thermal therapy. "
3.	Ventriculoperitoneal Shunt 12/01/1999 - "One of the born children had Pallister-Hall syndrome and died on day 19, and another had Aicardi's syndrome, is retarded and has fits, 1 with a posterior fossa cyst developed hydrocephalus in utero and was delivered early for the insertion of a ventriculoperitoneal shunt, he is moderately mentally delayed. "
4.	Therapeutics 01/01/2023 - "Research on HH has steadily switched its emphasis from Pallister-Hall syndrome (PHS) and precocious puberty to epilepsy and new diagnostic and therapeutic techniques, including Gamma Knife, laser ablation, and interstitial thermal therapy. "
5.	General Anesthesia 02/23/2018 - "We describe the airway management under general anesthesia of a 15-year-old female with Pallister-Hall syndrome whose airway was compromised with bifid epiglottis and acquired subglottic stenosis. "