 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
- Anosmic Idiopathic Hypogonadotropic Hypogonadism
- Dysplasia Olfactogenitalis of De Morsier
- Hypogonadotropic Hypogonadism-Anosmia Syndrome
- Kallmann's Syndrome
- Kallmanns Syndrome
- Syndrome, Kallmann's
- Anosmic Hypogonadism
- Anosmic Hypogonadisms
- Hypogonadism, Anosmic
- Hypogonadisms, Anosmic
- Hypogonadotropic Hypogonadism and Anosmia
Kallmann Syndrome 3- Kallmann Syndrome 3
- Hypogonadotropic Hypogonadism, Anosmia, and Midline Cranial Anomalies (Cleft Lip, Cleft Palate and Imperfect Fusion)
- Kallmann Syndrome, Type 3, Recessive
- Autosomal Recessive Form of Kallmann Syndrome
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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 |
|---|
| 1995 | 1 | 0 | 1 | | 2006 | 1 | 0 | 1 | | 2007 | 0 | 1 | 1 | | 2008 | 0 | 1 | 1 | | 2010 | 0 | 1 | 1 | | 2014 | 0 | 1 | 1 | | 2018 | 0 | 1 | 1 | | 2020 | 1 | 0 | 1 |
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Below are the most recent publications written about "Kallmann Syndrome" by people in Profiles.
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Davis EE, Balasubramanian R, Kupchinsky ZA, Keefe DL, Plummer L, Khan K, Meczekalski B, Heath KE, Lopez-Gonzalez V, Ballesta-Martinez MJ, Margabanthu G, Price S, Greening J, Brauner R, Valenzuela I, Cusco I, Fernandez-Alvarez P, Wierman ME, Li T, Lage K, Barroso PS, Chan YM, Crowley WF, Katsanis N. TCF12 haploinsufficiency causes autosomal dominant Kallmann syndrome and reveals network-level interactions between causal loci. Hum Mol Genet. 2020 08 11; 29(14):2435-2450.
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Hauser LJ, Jensen EL, Mirsky DM, Chan KH. Pediatric anosmia: A case series. Int J Pediatr Otorhinolaryngol. 2018 Jul; 110:135-139.
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Salian-Mehta S, Xu M, Knox AJ, Plummer L, Slavov D, Taylor M, Bevers S, Hodges RS, Crowley WF, Wierman ME. Functional consequences of AXL sequence variants in hypogonadotropic hypogonadism. J Clin Endocrinol Metab. 2014 Apr; 99(4):1452-60.
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Chung WC, Matthews TA, Tata BK, Tsai PS. Compound deficiencies in multiple fibroblast growth factor signalling components differentially impact the murine gonadotrophin-releasing hormone system. J Neuroendocrinol. 2010 Aug; 22(8):944-50.
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Falardeau J, Chung WC, Beenken A, Raivio T, Plummer L, Sidis Y, Jacobson-Dickman EE, Eliseenkova AV, Ma J, Dwyer A, Quinton R, Na S, Hall JE, Huot C, Alois N, Pearce SH, Cole LW, Hughes V, Mohammadi M, Tsai P, Pitteloud N. Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice. J Clin Invest. 2008 Aug; 118(8):2822-31.
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Schwarting GA, Wierman ME, Tobet SA. Gonadotropin-releasing hormone neuronal migration. Semin Reprod Med. 2007 Sep; 25(5):305-12.
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Tsai PS, Gill JC. Mechanisms of disease: Insights into X-linked and autosomal-dominant Kallmann syndrome. Nat Clin Pract Endocrinol Metab. 2006 Mar; 2(3):160-71.
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Rawson NE, Brand JG, Cowart BJ, Lowry LD, Pribitkin EA, Rao VM, Restrepo D. Functionally mature olfactory neurons from two anosmic patients with Kallmann syndrome. Brain Res. 1995 May 29; 681(1-2):58-64.
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