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postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome

Disease Summary
Associated Targets (1)
Tchem

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Mondo Description 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.
Uniprot Description 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.
Disease Ontology Description A syndrome that is characterized by hypopituitarism, mainly growth hormone deficiency, and/or postaxial polydactyly and has_material_basis_in autosomal dominant heterozygous mutation in the GLI2 gene on chromosome 2q14.
Mondo Term and Equivalent IDs
MONDO:0014369:  postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
Orphanet:420584: 
UMLS:C4014479: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)