HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA

General Information (adopted from Orphanet):

Synonyms, Signs: HH13
Number of Symptoms 5
OrphanetNr:
OMIM Id: 614842
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000013) Hypoplasia of the uterus 21 / 7739
2
(HPO:0000044) Hypogonadotrophic hypogonadism 56 / 7739
3
(HPO:0000458) Anosmia Occasional [HPO:probinson] 49 / 7739
4
(HPO:0002750) Delayed skeletal maturation 250 / 7739
5
(HPO:0000007) Autosomal recessive inheritance 2538 / 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 ...
Clinical Description OMIM Topaloglu et al. (2012) reported a consanguineous Kurdish family in which 4 sisters had normosmic hypogonadotropic hypogonadism. The proband presented at 14.9 years of age with absent breast development. She had a bone age of 13 years, and ...
Molecular genetics OMIM In a consanguineous Kurdish family in which 4 sisters had normosmic hypogonadotropic hypogonadism, Topaloglu et al. (2012) performed genomewide SNP analysis and identified 2 regions of homozygosity common to all affected individuals but not present in any unaffected ...