Kallmann Syndrome (definition)

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Kallmann Syndrome

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Definition: 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.

Other names Syndrome, Kallmann's; Syndrome, Kallmann; Kallmanns Syndrome; Hypogonadisms, Anosmic; Hypogonadism, Anosmic; Anosmic Hypogonadisms; Kallmann's Syndrome; Kallmann Syndrome, Type 1, X-linked; Kallmann Syndrome 2; Kallmann Syndrome 1; Dysplasia Olfactogenitalis of De Morsier; Autosomal Dominant Form of Kallmann Syndrome; Anosmic Hypogonadism

Substance	CAS Registry & name	Categories	Source
Hypogonadotropic hypogonadism and anosmia, autosomal dominant	0	*Kallmann Syndrome.
Brachytelephalangy characteristic facies Kallmann	0	Kallmann Syndrome Facies *Craniofacial Abnormalities.
Spastic paraplegia with Kallmann syndrome	0	Spastic Paraplegia, Hereditary Kallmann Syndrome.
Kallmann syndrome, type 3, recessive	0	*Kallmann Syndrome.
CHD7 protein, human	EC 5.99.-	DNA Helicases DNA-Binding Proteins Kallmann Syndrome CHARGE Syndrome.	Nat Genet 2004 Sep;36(9):955-7

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Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012
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