Hypogonadotropic hypogonadism 7 with or without anosmia

Preferred Label : Hypogonadotropic hypogonadism 7 with or without anosmia;

Symbol : HH7;

CISMeF acronym : HH7;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hypogonadism, isolated hypogonadotropic; IHH; Idiopathic hypogonadotropic hypogonadism;

Description : 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 axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; 152760) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).' For a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia, see 147950.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the gonadotropin-releasing hormone receptor gene (GNRHR, 138850.0001);

Prefixed ID : #146110;

Details

Origin ID

146110;

UMLS CUI

C0342384;

Automatic exact mappings (from CISMeF team)
- GNRHR wt Allele [NCIt concept]
- IHH Gene [NCIt concept]
- Indian hedgehog signaling molecule [ORDO Gene]
- Normosmic congenital hypogonadotropic hypogonadism [ORDO Disease]
- hypogonadism [MeSH Descriptor]
- idiopathic hypogonadotropic hypogonadism [MeSH concept]
- idiopathic hypogonadotropic hypogonadism [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Hypogonadotropic hypogonadism [HPO term]
- Isolated Hypogonadotropic Hypogonadism [NCIt concept]
- hypogonadism, isolated hypogonadotropic [MeSH concept]
- hypogonadotropic hypogonadism 7 with or without anosmia [DO Concept]
DO Cross reference
- hypogonadotropic hypogonadism 7 with or without anosmia [DO Concept]
Genes related to phenotype
- Gonadotropin-releasing hormone receptor [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cryptorchidism [HPO term]
- Decreased testicular size [HPO term]
- Gynecomastia [HPO term]
- Hypogonadotropic hypogonadism [HPO term]
- Infertility [HPO term]
- Micropenis [HPO term]
- Primary amenorrhea [HPO term]
- Sparse axillary hair [HPO term]
- Sparse pubic hair [HPO term]
Not associated HPO term(s)
- Abnormality of the sense of smell [HPO term]
ORDO concept(s)
- Normosmic congenital hypogonadotropic hypogonadism [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Idiopathic hypogonadotropic hypogonadism (disorder) [SNOMED CT concept]
- idiopathic hypogonadotropic hypogonadism [MeSH concept]
- idiopathic hypogonadotropic hypogonadism [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Hypogonadotropic Hypogonadism [NCIt concept]
- Idiopathic hypogonadotropic hypogonadism (disorder) [SNOMED CT concept]
- hypogonadotropic hypogonadism [Disease (Nov.)]

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