HYPOGONADOTROPIC HYPOGONADISM 10 WITH OR WITHOUT ANOSMIA

General Information (adopted from Orphanet):

Synonyms, Signs: HH10
Number of Symptoms 11
OrphanetNr:
OMIM Id: 614839
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:0000044) Hypogonadotrophic hypogonadism 56 / 7739
2
(HPO:0000786) Primary amenorrhea 61 / 7739
3
(HPO:0010632) Total anosmia 6 / 7739
4
(HPO:0000458) Anosmia Occasional [HPO:probinson] 49 / 7739
5
(HPO:0001256) Intellectual disability, mild rare [HPO:skoehler] 141 / 7739
6
(OMIM) Low or normal serum gonadotropins 3 / 7739
7
(OMIM) Low estradiol levels in females 3 / 7739
8
(OMIM) Patients have normal pituitary function 4 / 7739
9
(OMIM) Delayed or absent thelarche 5 / 7739
10
(OMIM) Absent or delayed puberty 11 / 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 ...
Clinical Description OMIM Gianetti et al. (2010) reported a female proband with normosmic IHH from a large multiply consanguineous Asian family. She had 3 affected sisters, including 1 who was anosmic, and an unaffected sister. There was evidence for neuroendocrine recovery ...
Molecular genetics OMIM In a Turkish IHH family with a region of homozygosity on chromosome 12q, Topaloglu et al. (2009) analyzed the biologically plausible candidate gene TAC3 and identified homozygosity for a missense mutation in the 2 affected sisters (162330.0001). The ...