eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | klinefelter syndrome |
| Symptom | C0003126|anosmia |
| Sentences | 6 |
| 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- 26199944 | Kallmann syndrome (ks) is characterized by isolated hypogonadotropic hypogonadism (ihh) with anosmia and is sometimes associated with cleft lip/palate (clp). |
| PubMedID- 24251138 | Association of idiopathic hypogonadotropic hypogonadism (ihh) with anosmia was first described by kallmann in 1944. it has a prevalence of 1:10,000 in general population. |
| 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). |
| PubMedID- 21998597 | Although the kallmann syndrome, a type of hypogonadotropic hypogonadism associated with anosmia and other congenital anomalies, has been linked to mutations in the kal1 gene on the x chromosome, only 11–14% of caucasian patients with hypogonadotropic hypogonadism have detectable kal1 mutations , reflecting the considerable genetic heterogeneity of this syndrome. |
| PubMedID- 20578256 | The phenotype depends on the extent and position of the deletion showing the variable association of apparently unrelated clinical manifestations such as ichthyosis, chondrodysplasia punctata, hypogonadotropic hypogonadism with anosmia, ocular albinism, short stature, and mental retardation. |
Page: 1