Details of Disease

General Information of Disease (ID: DIS11311)

Disease Name Short stature-pituitary and cerebellar defects-small sella turcica syndrome
Synonyms
pituitary hormone deficiency, combined with or without cerebellar defects; pituitary hormone deficiency, combined, with or without cerebellar defects; short stature, pituitary and cerebellar defects and small sella turcica; short stature, pituitary and cerebellar defects, and small sella turcica; CPHD4; pituitary hormone deficiency, combined 4; pituitary hormone deficiency, combined, 4; pituitary hormone deficiency, combined, type 4
Definition
Short stature-pituitary and cerebellar defects-small sella turcica syndrome is characterized by short stature, anterior pituitary hormone deficiency, small sella turcica, and a hypoplastic anterior hypophysis associated with pointed cerebellar tonsils. It has been described in three generations of a large French kindred. Ectopia of the posterior hypophysis was observed in some patients. The syndrome is transmitted as a dominantly inherited trait and is caused by a germline mutation within the LIM-homeobox transcription factor LHX4 gene (1q25).
Disease Hierarchy
DISC4U0P: Non-acquired combined pituitary hormone deficiency
DISW6YL6: Combined pituitary hormone deficiencies, genetic form
DIS11311: Short stature-pituitary and cerebellar defects-small sella turcica syndrome
Disease Identifiers
MONDO ID
MONDO_0009880
MESH ID
C567492
UMLS CUI
C2678408
OMIM ID
262700
MedGen ID
394816
Orphanet ID
85442

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ACBD6 OTF3XXNI Strong CausalMutation [1]
LHX4 OTVX3J6S Definitive Autosomal dominant [2]
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References

1 Molecular and Clinical Findings in Patients with LHX4 and OTX2 Mutations.Clin Pediatr Endocrinol. 2013 Apr;22(2):15-23. doi: 10.1292/cpe.22.15. Epub 2013 Apr 26.
2 Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.