"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.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 1994 | 1 | 0 | 1 |
| 1995 | 1 | 0 | 1 |
| 1996 | 1 | 0 | 1 |
| 2002 | 1 | 1 | 2 |
| 2018 | 1 | 0 | 1 |
| 2019 | 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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Whole Exome Sequencing Revealed a Novel Nonsense Variant in the GNRHR Gene Causing Normosmic Hypogonadotropic Hypogonadism in a Pakistani Family. Horm Res Paediatr. 2019; 91(1):9-16.
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Case 2: 3-month-old Boy with Micropenis. Pediatr Rev. 2018 Jul; 39(7):363-365.
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Recent advances in the genetics of testicular failure. Asian J Androl. 2016 May-Jun; 18(3):350-5.
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Bone mineral density in hypogonadal men remains low after long-term testosterone replacement. Asian J Androl. 2002 Jun; 4(2):117-21.
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The Kallmann syndrome gene homolog in C. elegans is involved in epidermal morphogenesis and neurite branching. Development. 2002 Mar; 129(5):1283-94.
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The Kallmann syndrome gene product expressed in COS cells is cleaved on the cell surface to yield a diffusible component. Hum Mol Genet. 1996 Aug; 5(8):1109-15.
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Variable penetrance of hypogonadism in a sibship with Kallmann syndrome due to a deletion of the KAL gene. Am J Med Genet. 1995 Jul 03; 57(3):476-8.
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Expression of the Kallmann syndrome gene in human fetal brain and in the manipulated chick embryo. Hum Mol Genet. 1994 Oct; 3(10):1717-23.
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Kallmann syndrome. From genetics to neurobiology. JAMA. 1993 Dec 08; 270(22):2713-6.
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A yeast artificial chromosome contig linking the steroid sulfatase and Kallmann syndrome loci on the human X chromosome short arm. Genomics. 1993 Oct; 18(1):1-6.