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Disease Profile
Kallmann syndrome 1
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.
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Age of onset
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ICD-10
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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)
KAL1; Kallmann syndrome, X-linked; Kallmann syndrome, type 1, X-linked
Categories
Congenital and Genetic Diseases; Endocrine Diseases; Female Reproductive Diseases;
Summary
Kallmann
Symptoms
In Kallmann syndrome 1, the sense of smell is either diminished or completely absent. This feature distinguishes Kallmann syndrome from most other forms of hypogonadotropic hypogonadism, which do not affect the sense of smell. Many people with Kallmann syndrome are not aware that they are unable to detect odors until the impairment is discovered through testing.[1]
Additional signs and symptoms can include a failure of one kidney to develop, a cleft lip or palate, abnormal eye movements,
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
|
---|---|---|
80%-99% of people have these symptoms | ||
Anosmia |
Lost smell
|
0000458 |
Anterior hypopituitarism | 0000830 | |
Decreased fertility |
Abnormal fertility
|
0000144 |
Decreased testicular size |
Small testes
Small testis
[ more ] |
0008734 |
Delayed puberty |
Delayed pubertal development
Delayed pubertal growth
Pubertal delay
[ more ] |
0000823 |
Erectile dysfunction |
Abnormal erection
Erectile abnormalities
[ more ] |
0100639 |
Hypogonadotropic hypogonadism | 0000044 | |
Hyposmia | 0004409 | |
Hypothalamic gonadotropin-releasing hormone deficiency | 0003164 | |
Micropenis |
Short penis
Small penis
[ more ] |
0000054 |
30%-79% of people have these symptoms | ||
Abnormality of the voice |
Voice abnormality
|
0001608 |
Breast hypoplasia |
Underdeveloped breasts
|
0003187 |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ] |
0000028 |
Reduced bone mineral density |
Low solidness and mass of the bones
|
0004349 |
5%-29% of people have these symptoms | ||
Abnormal morphology of female internal genitalia | 0000008 | |
Abnormality of cardiovascular system morphology | 0030680 | |
0001251 | ||
Bimanual synkinesia |
Hand mirror movements
Mirror hand movements
Mirror movements
[ more ] |
0001335 |
Cleft roof of mouth
|
0000175 | |
Color vision defect |
Abnormal color vision
Abnormality of color vision
[ more ] |
0000551 |
Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ] |
0002750 |
Difficulty articulating speech
|
0001260 | |
Dyspareunia | 0030016 | |
Facial asymmetry |
Asymmetry of face
Crooked face
Unsymmetrical face
[ more ] |
0000324 |
Gait disturbance |
Abnormal gait
Abnormal walk
Impaired gait
[ more ] |
0001288 |
Enlarged male breast
|
0000771 | |
Ichthyosis | 0008064 | |
Muscle weakness |
Muscular weakness
|
0001324 |
Muscular |
Low or weak muscle tone
|
0001252 |
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
Obesity |
Having too much body fat
|
0001513 |
Paraplegia |
Leg paralysis
|
0010550 |
Pes cavus |
High-arched foot
|
0001761 |
Pes planus |
Flat feet
Flat foot
[ more ] |
0001763 |
Primary amenorrhea | 0000786 | |
Drooping upper eyelid
|
0000508 | |
Recurrent fractures |
Increased fracture rate
Increased fractures
Multiple fractures
Multiple spontaneous fractures
Varying degree of multiple fractures
[ more ] |
0002757 |
Reduced number of teeth |
Decreased tooth count
|
0009804 |
Renal agenesis |
Absent kidney
Missing kidney
[ more ] |
0000104 |
0001250 | ||
Sensorineural hearing impairment | 0000407 | |
Skeletal dysplasia | 0002652 | |
Tremor | 0001337 | |
Visual impairment |
Impaired vision
Loss of eyesight
Poor vision
[ more ] |
0000505 |
Percent of people who have these symptoms is not available through HPO | ||
Azoospermia |
Absent sperm in semen
|
0000027 |
Eunuchoid habitus | 0003782 | |
High palate |
Elevated palate
Increased palatal height
[ more ] |
0000218 |
Leydig |
0002929 | |
Olfactory lobe agenesis |
Olfactory lobe absence
|
0001341 |
Sparse pubic hair |
Decreased sexual hair
|
0002225 |
Testicular atrophy |
Testicular degeneration
|
0000029 |
Unilateral renal agenesis |
Absent kidney on one side
Missing one kidney
Single kidney
[ more ] |
0000122 |
0001417 | ||
0001419 |
Diagnosis
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
Testing Resources
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Organizations Supporting this Disease
-
GNRH Network
COST European Cooperation in Science and Technology
ACTION BM1105
CH 1011 Lausanne
Vaud, Switzerland
Website: https://www.gnrhnetwork.eu/hhn_home/hhn-patients_familles_gnrh_deficiency_kallmann_syndrome.htm -
Hormone Health Network
Toll-free: 1-800-HORMONE (1-800-467-6663)
E-mail: [email protected]
Website: https://www.hormone.org -
The Pituitary Foundation
86 Colston Street
Bristol BS1 5BB
United Kingdom
Telephone: 0117 370 1320
E-mail: [email protected]
Website: https://www.pituitary.org.uk/
Social Networking Websites
- Visit the following Facebook groups related to Kallmann syndrome 1:
Kallmann Syndrome & Hypogonadotropic Hypogonadism Community
Kallmann syndrome
Kallmann Syndrome Links and Help
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.
Where to Start
- Genetics Home Reference (GHR) contains information on Kallmann syndrome 1. This website is maintained by the National Library of Medicine.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
In-Depth Information
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- 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) is a catalog of human genes and genetic disorders. Each entry has 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 Kallmann syndrome 1. Click on the link to view a sample search on this topic.
References
- Kallmann syndrome. Genetics Home Reference. 2008; https://ghr.nlm.nih.gov/condition/kallmann-syndrome. Accessed 12/22/2011.
- Pallais JC, Au M, Pitteloud N, Seminara S, Crowley WE. Kallmann syndrome. GeneReviews. 2011; https://www.ncbi.nlm.nih.gov/books/NBK1334/. Accessed 12/22/2011.
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