 Kallmann Syndrome
"Kallmann Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
A genetically heterogeneous disorder caused by hypothalamic GNRH deficiency and OLFACTORY NERVE defects. It is characterized by congenital HYPOGONADOTROPIC HYPOGONADISM and ANOSMIA, possibly with additional midline defects. It can be transmitted as an X-linked (GENETIC DISEASES, X-LINKED), an autosomal dominant, or an autosomal recessive trait.
| Descriptor ID |
D017436
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| MeSH Number(s) |
C12.706.316.096.750 C13.351.875.253.096.750 C16.131.939.316.096.750 C16.320.467 C19.391.119.096.750 C19.391.482.600
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| Concept/Terms |
Kallmann Syndrome- Kallmann Syndrome
- Syndrome, Kallmann
- Kallmann's Syndrome
- Kallmanns Syndrome
- Syndrome, Kallmann's
- Anosmic Hypogonadism
- Anosmic Hypogonadisms
- Hypogonadism, Anosmic
- Hypogonadisms, Anosmic
- Dysplasia Olfactogenitalis of De Morsier
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Below are MeSH descriptors whose meaning is more general than "Kallmann Syndrome".
Below are MeSH descriptors whose meaning is more specific than "Kallmann Syndrome".
This graph shows the total number of publications written about "Kallmann Syndrome" by people in this website by year, and whether "Kallmann Syndrome" was a major or minor topic of these publications.
To see the data from this visualization as text, click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2007 | 0 | 1 | 1 | | 2020 | 0 | 1 | 1 |
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Below are the most recent publications written about "Kallmann Syndrome" by people in Profiles.
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Gileta AF, Helgeson ML, Leonard JMM, Pyle LC, Subramanian HP, Arndt K, Hawkes CP, Del Gaudio D. Further delineation of a recognizable type of syndromic short stature caused by biallelic SEMA3A loss-of-function variants. Am J Med Genet A. 2021 03; 185(3):889-893.
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Bhagavath B, Xu N, Ozata M, Rosenfield RL, Bick DP, Sherins RJ, Layman LC. KAL1 mutations are not a common cause of idiopathic hypogonadotrophic hypogonadism in humans. Mol Hum Reprod. 2007 Mar; 13(3):165-70.
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