PHS
MCID: PLL001
MIFTS: 62
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Pallister-Hall Syndrome (PHS)
Categories:
Bone diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Pallister-Hall Syndrome:
Characteristics:Orphanet epidemiological data:59
pallister-hall syndrome
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood,infantile,normal life expectancy; HPO:32
pallister-hall syndrome:
Clinical modifier neonatal death Inheritance autosomal dominant inheritance Onset and clinical course variable expressivity GeneReviews:24
Penetrance
No instances of incomplete penetrance of phs have been published....
Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Nephrological diseases Bone diseases Endocrine diseases Neuronal diseases Skin diseases
Orphanet: 59
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NIH Rare Diseases
:
53
Pallister-Hall syndrome (PHS) is a genetic disease that affects the development of many parts of the body. Common features include extra fingers and/or toes (polydactyly), extra skin between the fingers or toes (syndactyly), an abnormal growth in the brain called a hypothalamic hamartoma, and a malformation of the airway known as bifid epiglottis. The bifid epiglottis in rare cases may lead to respiratory failure. While the hypothalamic hamartoma in most cases does not cause problems, in some cases it may cause neurological problems such as seizures, growth hormone deficiency, precocious puberty, or a deficiency of many hormones (panhypopituitarism) that can result in cortisol deficiency. Other symptoms of PHS may include imperforate anus, abnormalities in the kidneys, heart defects, small genitalia, lack of fingers, nail problems, cleft palate, bifid uvula, and development delay and behavioral problems. Pallister-Hall syndrome is caused by mutations in the GLI3 gene. Inheritance is autosomal dominant, however, in about a quarter of cases Pallister-Hall syndrome results from a new (de novo) mutation. The diagnosis of Pallister-Hall syndrome can be made when there is a hypothalamic hamartoma and polydactyly. The genetic test that identifies a mutation in the GLI3 gene confirms the diagnosis. Treatment is based on the symptoms, and may include medication for the early treatment of cortisol deficiency and seizures, surgery for imperforate anus and/or polydactyly, and special education when developmental delays are present. The prognosis depends on which symptoms are present and their severity.
MalaCards based summary : Pallister-Hall Syndrome, also known as phs, is related to culler-jones syndrome and mckusick-kaufman syndrome. An important gene associated with Pallister-Hall Syndrome is GLI3 (GLI Family Zinc Finger 3), and among its related pathways/superpathways are Hedgehog signaling pathway and Pathways in cancer. Affiliated tissues include pituitary, kidney and brain, and related phenotypes are hypothalamic hamartoma and macrocephaly Genetics Home Reference : 25 Pallister-Hall syndrome is a disorder that affects the development of many parts of the body. Most people with this condition have extra fingers and/or toes (polydactyly), and the skin between some fingers or toes may be fused (cutaneous syndactyly). An abnormal growth in the brain called a hypothalamic hamartoma is characteristic of this disorder. In many cases, these growths do not cause any health problems; however, some hypothalamic hamartomas lead to seizures or hormone abnormalities that can be life-threatening in infancy. Other features of Pallister-Hall syndrome include a malformation of the airway called a bifid epiglottis, an obstruction of the anal opening (imperforate anus), and kidney abnormalities. Although the signs and symptoms of this disorder vary from mild to severe, only a small percentage of affected people have serious complications. OMIM : 57 Pallister-Hall syndrome is a pleiotropic autosomal dominant disorder comprising hypothalamic hamartoma, pituitary dysfunction, central polydactyly, and visceral malformations (Biesecker et al., 1996). (146510) KEGG : 37 ![]() UniProtKB/Swiss-Prot : 74 Pallister-Hall syndrome: An autosomal dominant disorder characterized by a wide range of clinical manifestations. Clinical features include hypothalamic hamartoma, pituitary dysfunction, central or postaxial polydactyly, and syndactyly. Malformations are frequent in the viscera, e.g. anal atresia, bifid uvula, congenital heart malformations, pulmonary or renal dysplasia. Wikipedia : 75 Pallister-Hall syndrome is a disorder that affects the development of many parts of the... more...
GeneReviews:
NBK1465
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Human phenotypes related to Pallister-Hall Syndrome:59 32 (show top 50) (show all 120)
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:146510MGI Mouse Phenotypes related to Pallister-Hall Syndrome:46 (show all 20)
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Interventional clinical trials:
Cochrane evidence based reviews: pallister-hall syndrome |
MalaCards organs/tissues related to Pallister-Hall Syndrome:41
Pituitary,
Kidney,
Brain,
Heart,
Skin,
Testes,
Thyroid
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Articles related to Pallister-Hall Syndrome:(show top 50) (show all 153)
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ClinVar genetic disease variations for Pallister-Hall Syndrome:6 (show top 50) (show all 231)
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Search
GEO
for disease gene expression data for Pallister-Hall Syndrome.
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Pathways related to Pallister-Hall Syndrome according to KEGG:37
Pathways related to Pallister-Hall Syndrome according to GeneCards Suite gene sharing:(show all 11)
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Cellular components related to Pallister-Hall Syndrome according to GeneCards Suite gene sharing:
Biological processes related to Pallister-Hall Syndrome according to GeneCards Suite gene sharing:(show top 50) (show all 76)
Molecular functions related to Pallister-Hall Syndrome according to GeneCards Suite gene sharing:
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