Rare Nephrology News
Disease Profile
Combined pituitary hormone deficiencies, genetic forms
Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
#N/A
Age of onset
#N/A
ICD-10
#N/A
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Familial congenital hypopituitarism; Multiple pituitary hormone deficiencies, genetic forms
Categories
Congenital and Genetic Diseases; Endocrine Diseases; Female Reproductive Diseases;
Symptoms
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
| Medical Terms | Other Names |
Learn More:
HPO ID
|
|---|---|---|
| 30%-79% of people have these symptoms | ||
| Abnormal prolactin level | 0040086 | |
| Abnormality of secondary sexual hair | 0009888 | |
| Amenorrhea |
Abnormal absence of menstruation
|
0000141 |
| Anterior pituitary agenesis |
Absent pituitary gland
|
0010626 |
| Anterior pituitary hypoplasia |
Underdeveloped pituitary gland
|
0010627 |
| Aplasia/Hypoplasia of the breasts |
Absent/small breasts
Absent/underdeveloped breasts
[ more ] |
0010311 |
| Decreased circulating ACTH level | 0002920 | |
| Decreased testicular size |
Small testes
Small testis
[ more ] |
0008734 |
| Depressed nasal ridge |
Flat nose
Recessed nasal ridge
[ more ] |
0000457 |
| Fatigue |
Tired
Tiredness
[ more ] |
0012378 |
|
Low blood sugar
|
0001943 | |
| Hypogonadotropic |
0000044 | |
| Hypotension |
Low blood pressure
|
0002615 |
| Infertility | 0000789 | |
| Osteopenia | 0000938 | |
| Pituitary hypothyroidism |
Low thyroid gland function due to abnormal pituitary gland
|
0008245 |
| 5%-29% of people have these symptoms | ||
| Absence of secondary sex characteristics | 0008187 | |
| Constipation | 0002019 | |
| Delayed puberty |
Delayed pubertal development
Delayed pubertal growth
Pubertal delay
[ more ] |
0000823 |
| Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ] |
0002750 |
| 0005625 | ||
| Pituitary dwarfism | 0000839 | |
| 1%-4% of people have these symptoms | ||
| Agenesis of |
0001274 | |
| Decreased cervical spine mobility |
Limited neck movement
|
0004637 |
| Ectopic anterior pituitary gland | 0012731 | |
| Ectopic posterior pituitary | 0011755 | |
| Holoprosencephaly | 0001360 | |
| Median |
Central cleft lip and palate
Midline cleft lip/palate
[ more ] |
0008501 |
|
More than five fingers or toes on hands or feet
|
0010442 | |
| 0001250 | ||
| Septo-optic dysplasia | 0100842 | |
| Severe global |
0011344 | |
Learn more
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
In-Depth Information
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) lists the subtypes and associated genes for Combined pituitary hormone deficiencies, genetic forms in a table called Phenotypic Series. Each entry in OMIM includes a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Combined pituitary hormone deficiencies, genetic forms. Click on the link to view a sample search on this topic.