Kallmann Syndrome
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.
Year introduced: 1993
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Tree Number(s): C12.050.351.875.253.096.750, C12.200.706.316.096.750, C12.800.316.096.750, C16.131.939.316.096.750, C16.320.467, C19.391.119.096.750, C19.391.482.600
MeSH Unique ID: D017436
Entry Terms:
- Syndrome, Kallmann
- Anosmic Hypogonadism
- Anosmic Hypogonadisms
- Hypogonadism, Anosmic
- Hypogonadisms, Anosmic
- Anosmic Idiopathic Hypogonadotropic Hypogonadism
- Dysplasia Olfactogenitalis of De Morsier
- Hypogonadotropic Hypogonadism and Anosmia
- Hypogonadotropic Hypogonadism-Anosmia Syndrome
- Kallmann's Syndrome
- Kallmanns Syndrome
- Syndrome, Kallmann's
- Kallmann Syndrome 1
- Kallmann Syndrome, Type 1, X-linked
- Kallmann Syndrome 2
- Autosomal Dominant Form of Kallmann Syndrome
- Kallmann Syndrome 3
- Autosomal Recessive Form of Kallmann Syndrome
- Hypogonadotropic Hypogonadism, Anosmia, and Midline Cranial Anomalies (Cleft Lip, Cleft Palate and Imperfect Fusion)
- Kallmann Syndrome, Type 3, Recessive
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