eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | kallmann syndrome |
| Symptom | C0022735|hypogonadotropic hypogonadism |
| Sentences | 4 |
| PubMedID- 23082007 | Ica due to olfactory bulb agenesis and associated to hypogonadotropic hypogonadism defines kallmann syndrome (ks), in which several gene defects have been described. |
| PubMedID- 24083166 | Anecdotal cases of reversal of hypogonadotropic hypogonadism in patients with kallmann syndrome have been reported. |
| PubMedID- 25559402 | Context: a heterozygous de novo c.1228g>a mutation (e410k) in the tubb3 gene encoding the neuronal-specific beta-tubulin isotype 3 (tubb3) causes the tubb3 e410k syndrome characterized by congenital fibrosis of the extraocular muscles (cfeom), facial weakness, intellectual and social disabilities, and kallmann syndrome (anosmia with hypogonadotropic hypogonadism). |
| PubMedID- 19489874 | Objective: congenital hypogonadotropic hypogonadism with anosmia (kallmann syndrome) or with normal sense of smell is a heterogeneous genetic disorder caused by defects in the synthesis, secretion and action of gonadotrophin-releasing hormone (gnrh). |
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