Rare Infectious Disease 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.

Unknown

Age of onset

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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

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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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.

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Not applicable

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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
Hypoglycemia
Low blood sugar
0001943
Hypogonadotropic hypogonadism
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
Osteoporosis of vertebrae
0005625
Pituitary dwarfism
0000839
1%-4% of people have these symptoms
Agenesis of corpus callosum
0001274
Decreased cervical spine mobility
Limited neck movement
0004637
Ectopic anterior pituitary gland
0012731
Ectopic posterior pituitary
0011755
Holoprosencephaly
0001360
Median cleft lip and palate
Central cleft lip and palate
Midline cleft lip/palate

[ more ]

0008501
Polydactyly
More than five fingers or toes on hands or feet
0010442
Seizure
0001250
Septo-optic dysplasia
0100842
Severe global developmental delay
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.