Details of Disease | DrugMAP

General Information of Disease (ID: DISTYTPU)

Disease Name	Pallister-Hall syndrome
Synonyms	Pallister-Hall syndrome; Pallister Hall syndrome; ano-cerebro-digital syndrome; PHS; hypothalamic hamartoblastoma syndrome; hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly
Definition	Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations.
Disease Hierarchy	DIS7667R: Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome DISC4U0P: Non-acquired combined pituitary hormone deficiency DIS6SVEE: Syndromic disease DISFLSDF: Polydactyly-syndactyly-triphalangism DISTYTPU: Pallister-Hall syndrome
Disease Identifiers	MONDO ID MONDO_0007804 MESH ID D054975 UMLS CUI C0265220 OMIM ID 146510 MedGen ID 120514 Orphanet ID 672 SNOMED CT ID 56677004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
HPD	TT8DSFC	Limited	Biomarker	[1]
------------------------------------------------------------------------------------

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
AGO2	OT4JY32Q	Limited	Biomarker	[1]
CCN6	OTRFHQ2Z	Limited	Biomarker	[1]
GLI3	OTKDOE94	Definitive	Autosomal dominant	[2]
------------------------------------------------------------------------------------

References

1	Expanded mutational spectrum of the GLI3 gene substantiates genotype-phenotype correlations.J Appl Genet. 2012 Nov;53(4):415-22. doi: 10.1007/s13353-012-0109-x. Epub 2012 Aug 18.
2	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.