HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA

General Information (adopted from Orphanet):

Synonyms, Signs: HH8
Number of Symptoms 11
OrphanetNr:
OMIM Id: 614837
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:0008734) Decreased testicular size 105 / 7739
3
(HPO:0000044) Hypogonadotrophic hypogonadism 56 / 7739
4
(HPO:0000028) Cryptorchidism 347 / 7739
5
(HPO:0000786) Primary amenorrhea 61 / 7739
6
(HPO:0000054) Micropenis 257 / 7739
7
(HPO:0000027) Azoospermia 28 / 7739
8
(HPO:0000458) Anosmia Occasional [HPO:probinson] 49 / 7739
9
(HPO:0002750) Delayed skeletal maturation 250 / 7739
10
(HPO:0000938) Osteopenia 138 / 7739
11
(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 ...
Molecular genetics OMIM In affected individuals from the large consanguineous Saudi family with autosomal recessive normosmic hypogonadotropic hypogonadism mapping to chromosome 19p13.3, originally reported by Bo-Abbas et al. (2003), Seminara et al. (2003) identified homozygosity for a missense mutation in the ...