Details of Disease | DrugMAP

General Information of Disease (ID: DIST3CZX)

Disease Name	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
Synonyms	Culler-Jones syndrome; Pallister-Hall syndrome 2; CJS; Pallister-Hall syndrome 2, formerly
Definition	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome is a rare, genetic developmental defect during embryogenesis characterized primarily by congenital hypopituitarism and/or postaxial polydactyly. It can be associated with short stature, delayed bone age, hypogonadotropic hypogonadism, and/or midline facial defects (e.g. hypotelorism, mild midface hypoplasia, flat nasal bridge, and cleft lip and/or palate). Hypoplastic anterior pituitary and ectopic posterior pituitary lobe are frequent findings on MRI examination.
Disease Hierarchy	DISC4U0P: Non-acquired combined pituitary hormone deficiency DIS6SVEE: Syndromic disease DIS3LICD: Congenital limb malformation DISHPNVX: Dysplasia DIS3HIWD: Autosomal dominant disease DIST3CZX: Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
Disease Identifiers	MONDO ID MONDO_0014369 UMLS CUI C4014479 OMIM ID 615849 MedGen ID 862916 Orphanet ID 420584

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GLI2	TT045OH	Limited	Genetic Variation	[1]
GLI2	TT045OH	Definitive	Autosomal dominant	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GLI2	OTIRV97L	Definitive	Autosomal dominant	[2]
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References

1	A novel truncating variant of GLI2 associated with Culler-Jones syndrome impairs Hedgehog signalling.PLoS One. 2019 Jan 10;14(1):e0210097. doi: 10.1371/journal.pone.0210097. eCollection 2019.
2	Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features. Proc Natl Acad Sci U S A. 2003 Nov 11;100(23):13424-9. doi: 10.1073/pnas.2235734100. Epub 2003 Oct 27.