HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA

General Information (adopted from Orphanet):

Synonyms, Signs: HH12
Number of Symptoms 8
OrphanetNr:
OMIM Id: 614841
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:0008734) Decreased testicular size 105 / 7739
2
(HPO:0000786) Primary amenorrhea 61 / 7739
3
(HPO:0000028) Cryptorchidism 347 / 7739
4
(HPO:0000054) Micropenis 257 / 7739
5
(HPO:0000044) Hypogonadotrophic hypogonadism 56 / 7739
6
(HPO:0000458) Anosmia Common [HPO:probinson] 49 / 7739
7
(HPO:0000823) Delayed puberty 65 / 7739
8
(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 an 18-year-old Romanian man from a Transylvanian mountain village who had normosmic hypogonadotropic hypogonadism and was negative for mutation in the GNRHR1, GPR54, KISS1, FGFR1, and GNRH2 genes, Bouligand et al. (2009) identified homozygosity for a 1-bp ...