Details of Disease

General Information of Disease (ID: DISGSN5T)

• Disease Name: Pituitary stalk interruption syndrome
• Synonyms: ectopic neurohypophysis; hypoplastic anterior pituitary, missing stalk, and ectopic posterior pituitary; PSIS
• Definition: Pituitary stalk interruption syndrome (PSIS) is a congenital abnormality of the pituitary that is responsible for pituitary deficiency and is usually characterized by the triad of a very thin or interrupted pituitary stalk, an ectopic (or absent) posterior pituitary (EPP) and hypoplasia or aplasia of the anterior pituitary visible on MRI. In some patients the abnormality may be limited to EPP (also called ectopic neurohypophysis) or to an interrupted pituitary stalk.
• Disease Hierarchy:
  DIS6SVEE: Syndromic disease
  DISFF2OX: Non-acquired pituitary hormone deficiency
  DISGSN5T: Pituitary stalk interruption syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0019828
  UMLS CUI: C4053775
  MedGen ID: 883774
  Orphanet ID: 95496
  SNOMED CT ID: 715727009

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
PROKR2	TTM67AX	Limited	Genetic Variation	[1]
ROBO1	TTND1YP	Supportive	Autosomal dominant	[2]
ROBO1	TTND1YP	Strong	Genetic Variation	[3]

This Disease Is Related to 11 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
OTX2	OTTV05B1	Limited	Biomarker	[4]
CDON	OT81X593	Supportive	Autosomal dominant	[5]
GPR161	OT80FYA3	Supportive	Autosomal dominant	[6]
HESX1	OT5E2Z4G	Supportive	Autosomal dominant	[7]
LHX4	OTVX3J6S	Supportive	Autosomal dominant	[7]
ROBO1	OT52UFVS	Supportive	Autosomal dominant	[2]
CCDC88C	OTIU02BS	Strong	Biomarker	[8]
DCHS1	OTW3GX62	Strong	Genetic Variation	[8]
KIF14	OTXHT4JM	Strong	Biomarker	[8]
SIX3	OTP5E3VU	Strong	Biomarker	[9]
SOX3	OT1CRCOB	Strong	Biomarker	[6]

References

• [1] A Novel Ligand of Toll-like Receptor 4 From the Sheath of Wuchereria bancrofti Microfilaria Induces Proinflammatory Response in Macrophages.J Infect Dis. 2017 Mar 15;215(6):954-965. doi: 10.1093/infdis/jix067.
• [2] Mutations in the Human ROBO1 Gene in Pituitary Stalk Interruption Syndrome. J Clin Endocrinol Metab. 2017 Jul 1;102(7):2401-2406. doi: 10.1210/jc.2016-1095.
• [3] Familial ROBO1 deletion associated with ectopic posterior pituitary, duplication of the pituitary stalk and anterior pituitary hypoplasia.J Pediatr Endocrinol Metab. 2019 Jan 28;32(1):95-99. doi: 10.1515/jpem-2018-0272.
• [4] Pituitary Stalk Interruption Syndrome: From Clinical Findings to Pathogenesis.J Neuroendocrinol. 2017 Jan;29(1). doi: 10.1111/jne.12451.
• [5] A Nonsense Mutation in the Hedgehog Receptor CDON Associated With Pituitary Stalk Interruption Syndrome. J Clin Endocrinol Metab. 2016 Jan;101(1):12-5. doi: 10.1210/jc.2015-2995. Epub 2015 Nov 3.
• [6] Whole-exome sequencing identifies homozygous GPR161 mutation in a family with pituitary stalk interruption syndrome. J Clin Endocrinol Metab. 2015 Jan;100(1):E140-7. doi: 10.1210/jc.2014-1984.
• [7] Pituitary stalk interruption syndrome in 83 patients: novel HESX1 mutation and severe hormonal prognosis in malformative forms. Eur J Endocrinol. 2011 Apr;164(4):457-65. doi: 10.1530/EJE-10-0892. Epub 2011 Jan 26.
• [8] Clues for Polygenic Inheritance of Pituitary Stalk Interruption Syndrome From Exome Sequencing in 20 Patients.J Clin Endocrinol Metab. 2018 Feb 1;103(2):415-428. doi: 10.1210/jc.2017-01660.
• [9] Pituitary stalk interruption syndrome and isolated pituitary hypoplasia may be caused by mutations in holoprosencephaly-related genes.J Clin Endocrinol Metab. 2013 Apr;98(4):E779-84. doi: 10.1210/jc.2012-3982. Epub 2013 Mar 8.