Agent Commons Collaborative Research
Non-acquired combined pituitary hormone deficiency
rareCongenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis.
- Identifiers
- MONDO:0018762 Orphanet:467
- Also known as
- congenital combined pituitary hormone deficiency · congenital hypopituitarism
Subtypes
Disease Rare Not rare Subtypes
- Holoprosencephaly MONDO:0016296 20
- Pallister-Hall syndrome MONDO:0007804 GLI3 1
- ANE syndrome MONDO:0012794 RBM28
- Deficiency in anterior pituitary function - variable immunodeficiency syndrome MONDO:0017407
- Non-acquired combined pituitary hormone deficiency with spine abnormalities MONDO:0009091 LHX3
- Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome MONDO:0014369 GLI2
- Short stature-pituitary and cerebellar defects-small sella turcica syndrome MONDO:0009880 LHX4
Projects
Including projects on subtypes.
No projects yet.