Clinical Signs and Symptoms
ORPHA:95494 Combined pituitary hormone deficiencies, genetic forms
The phenotypic description of this disease is based on an analysis of the biomedical literature and uses the terms of the Human Phenotype Ontology (HPO). Phenotypic abnormalities are presented by order of frequency of occurrence in the patient population, then by alphabetical order inside each frequency group.
- Hypopituitarism HP:0040075
- Abnormal prolactin level HP:0040086
- Abnormality of secondary sexual hair HP:0009888
- Amenorrhea HP:0000141
- Anterior pituitary agenesis HP:0010626
- Anterior pituitary hypoplasia HP:0010627
- Aplasia/Hypoplasia of the breasts HP:0010311
- Decreased circulating ACTH level HP:0002920
- Decreased testicular size HP:0008734
- Depressed nasal ridge HP:0000457
- Fatigue HP:0012378
- Growth delay HP:0001510
- Growth hormone deficiency HP:0000824
- Hypoglycemia HP:0001943
- Hypogonadotrophic hypogonadism HP:0000044
- Hypotension HP:0002615
- Infertility HP:0000789
- Osteopenia HP:0000938
- Pituitary hypothyroidism HP:0008245
- Abnormality of digit HP:0011297
- Abnormality of the eye HP:0000478
- Absent septum pellucidum HP:0001331
- Agenesis of corpus callosum HP:0001274
- Decreased cervical spine mobility HP:0004637
- Ectopic anterior pituitary gland HP:0012731
- Ectopic posterior pituitary HP:0011755
- Holoprosencephaly HP:0001360
- Median cleft lip and palate HP:0008501
- Optic nerve hypoplasia HP:0000609
- Polydactyly HP:0010442
- Seizures HP:0001250
- Septo-optic dysplasia HP:0100842
- Severe global developmental delay HP:0011344
Specialised Social Services
The information provided is based on published scientific articles.
The information provided is estimated for the entire population of patients in routine care. Some phenotypic abnormalities reported here may occur individually with a variable temporality or severity, while others, not listed, may still be encountered. Phenotypic annotations are not yet available for all rare diseases; the annotation process is ongoing.
The information contained in Orphanet is regularly updated. It is possible that discoveries have been made since the last update and have not yet been incorporated.
Professionals are encouraged to always consult the latest scientific publications before making a decision based on the information provided. The information contained in Orphanet is not intended to replace the services of a healthcare professional. Orphanet cannot be held responsible for the deleterious, truncated or erroneous use of any information found in the Orphanet database.