HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA

General Information (adopted from Orphanet):

Synonyms, Signs: HH6
Number of Symptoms 3
OrphanetNr:
OMIM Id: 612702
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000044) Hypogonadotrophic hypogonadism 56 / 7739
2
(HPO:0000458) Anosmia Occasional [HPO:probinson] 49 / 7739
3
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary ...
Molecular genetics OMIM Using a candidate gene approach, Falardeau et al. (2008) screened the FGF8 gene in 461 unrelated probands with idiopathic hypogonadotropic hypogonadism, including 193 normosmic patients, 237 anosmic patients, and 21 patients with adult-onset IHH. They identified 6 mutations ...