HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA

General Information (adopted from Orphanet):

Synonyms, Signs: HH5
Number of Symptoms 3
OrphanetNr:
OMIM Id: 612370
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 18834967 IBIS 56 / 7739
2
(HPO:0000458) Anosmia Variable [HPO:probinson] 18834967 IBIS 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 Kim et al. (2008) analyzed the CHD7 gene in 197 patients with Kallmann syndrome or normosmic hypogonadotropic hypogonadism and identified 7 different heterozygous mutations in 7 sporadic patients, 3 with KS and 4 with IHH, respectively (see, e.g., ...