Details of Disease

General Information of Disease (ID: DISTD31T)

• Disease Name: Non-acquired combined pituitary hormone deficiency with spine abnormalities
• Synonyms: Winkelmann-Bethge-Pfeiffer syndrome; Pituitary hormone deficiency, combined with rigid cervical spine; CPHD3; pituitary hormone deficiency, combined, 3; Deafness, sensorineural with pituitary dwarfism; deafness, sensorineural, with pituitary dwarfism; non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome; pituitary hormone deficiency, combined, with rigid cervical spine; non-acquired combined pituitary hormone deficiency with spine abnormalities; pituitary hormone deficiency, combined, type 3; non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome
• Definition: Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome is a rare, genetic, non-acquired, combined pituitary hormone deficiency disorder characterized by panhypopituitarism (with or without ACTH deficiency) associated with spine abnormalities, including frequent rigid cervical spine and short neck with limited rotation, and variable degrees of sensorineural hearing loss. The anterior pituitary gland is usually abnormal (typically hypoplastic) and rarely a mild developmental delay or intellectual disability may be associated.
• Disease Hierarchy:
  DISC4U0P: Non-acquired combined pituitary hormone deficiency
  DISW6YL6: Combined pituitary hormone deficiencies, genetic form
  DISTD31T: Non-acquired combined pituitary hormone deficiency with spine abnormalities
• Disease Identifiers:
  MONDO ID: MONDO_0009091
  MESH ID: C536710
  UMLS CUI: C3489787
  OMIM ID: 221750
  MedGen ID: 483740
  Orphanet ID: 231720

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
LHX3	OTQ5BAJ9	Definitive	Autosomal recessive	[1]

References

• [1] Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency. Nat Genet. 2000 Jun;25(2):182-6. doi: 10.1038/76041.