HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA

General Information (adopted from Orphanet):

Synonyms, Signs: HH20
Number of Symptoms 10
OrphanetNr:
OMIM Id: 615270
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000135) Hypogonadism 89 / 7739
2
(HPO:0000823) Delayed puberty 65 / 7739
3
(HPO:0002659) Increased susceptibility to fractures 110 / 7739
4
(HPO:0000939) Osteoporosis rare [HPO:skoehler] 129 / 7739
5
(HPO:0000938) Osteopenia rare [HPO:skoehler] 138 / 7739
6
(OMIM) Absent or delayed puberty 11 / 7739
7
(OMIM) Cleft lip and/or palate 4 / 7739
8
(OMIM) Hyposmia/anosmia 7 / 7739
9
(MedDRA:10017076) Fracture 18 / 7739
10
(MedDRA:10017322) Fractures 18 / 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 a cohort of 386 unrelated individuals with congenital hypogonadotropic hypogonadism (CHH), 199 of whom were anosmic and 187 normosmic, many of whom were known to harbor mutations in previously identified HH-associated genes, Miraoui et al. (2013) analyzed ...