HYPOGONADOTROPIC HYPOGONADISM 9 WITH OR WITHOUT ANOSMIA

General Information (adopted from Orphanet):

Synonyms, Signs: HH9
Number of Symptoms 3
OrphanetNr:
OMIM Id: 614838
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 In 1 of 65 patients with IHH, Miura et al. (2004) identified a thr480-to-ala mutation in the NELF gene (T480A; 608137.0001). The mutation was not found in 100 normal control individuals, suggesting that it may be associated with ...