HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA

General Information (adopted from Orphanet):

Synonyms, Signs: HH18
Number of Symptoms 12
OrphanetNr:
OMIM Id: 615267
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:0000458) Anosmia rare [HPO:skoehler] 49 / 7739
3
(HPO:0000164) Abnormality of the teeth rare [HPO:skoehler] 291 / 7739
4
(HPO:0000365) Hearing impairment rare [HPO:skoehler] 539 / 7739
5
(HPO:0002659) Increased susceptibility to fractures 110 / 7739
6
(HPO:0000938) Osteopenia rare [HPO:skoehler] 138 / 7739
7
(HPO:0000939) Osteoporosis rare [HPO:skoehler] 129 / 7739
8
(MedDRA:10017076) Fracture 18 / 7739
9
(MedDRA:10017322) Fractures 18 / 7739
10
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
11
(OMIM) Hyposmia/anosmia 7 / 7739
12
(OMIM) Absent or delayed puberty 11 / 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 ...