Pallister-Hall Syndrome (PHS)

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Disease Ontology 12 DOID:9248 OMIM 56 146510 KEGG 36 H00502 MeSH 43 D054975 NCIt 49 C84987 SNOMED-CT 67 56677004 MESH via Orphanet 44 D054975

ICD10 via Orphanet 33 Q87.8 UMLS via Orphanet 72 C0265220 C0342418 Orphanet 58 ORPHA672 MedGen 41 C0265220 SNOMED-CT via HPO 68 105985007 11934000 123527003 128613002 13867009 15459006 157265008 16026008 16507009 18910001 194021007 199612005 203541003 204108000 204508009 204712000 204731006 204878001 204888000 204912007 204949001 205131007 2109003 21321009 21995002 22006008 22033007 224958001 228156007 232412004 232461002 237692001 237714006 237774001 237836003 240190009 24269006 246545002 246800008 247578003 249310005 249380003 249773003 253251006 253366007 253549006 263681008 276411001 276506001 28740008 30288003 307573009 30915001 313307000 32113001 32390006 32614006 32659003 33927004 34911001 35045004 363732003 367524008 37126005 373662000 386584007 396232000 396347007 398309008 400179000 405752007 409623005 417109008 4191007 41962002 43064006 43476002 443093007 52299001 55726006 58748004 59566000 60023006 61142002 68359008 69758005 70142008 708670007 7305005 80281008 82598004 83330001 84757009 89525009 91138005 91175000 91842005 91846008 95576001 95854004 more UMLS 71 C0265220

NIH Rare Diseases : ⁵² 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 hypopituitarism. 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 heart, and related phenotypes are hypothalamic hamartoma and skeletal dysplasia

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 : ⁵⁶ 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 : ³⁶ Pallister-Hall syndrome is characterized by polydactyly, hypothalamic hamartoma, and malformations of other parts of the body. Cases with severe malformations are neonatally lethal. Pallister-Hall syndrome is caused by GLI3 mutations.

UniProtKB/Swiss-Prot : ⁷³ 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 : ⁷⁴ Pallister-Hall syndrome (abbreviated PHS) is a disorder that affects the development of many parts of... more...

GeneReviews: NBK1465

Clinical features from OMIM:

146510

Search NIH Clinical Center for Pallister-Hall Syndrome

Search GEO for disease gene expression data for Pallister-Hall Syndrome.