MCID: HYP532
MIFTS: 20

Hypogonadotropic Hypogonadism 18 with or Without Anosmia

Categories: Genetic diseases, Endocrine diseases

Aliases & Classifications for Hypogonadotropic Hypogonadism 18 with or Without Anosmia

MalaCards integrated aliases for Hypogonadotropic Hypogonadism 18 with or Without Anosmia:

Name: Hypogonadotropic Hypogonadism 18 with or Without Anosmia 57 12 75 29 73
Hh18 57 75
Hypogonadism, Hypogonadotropic, Type 18 with/without Anosmia 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant (see miscellaneous below)
autosomal recessive
digenic

Miscellaneous:
phenotypic variability within families and among patients carrying the same mutation appears to be due to the oligogenic nature of the disorder, with some patients having mutations in il17rd and another neuroendocrine-related gene (e.g., fgf8 (600483), fgfr1 (136350), kiss1r (604161))


HPO:

32
hypogonadotropic hypogonadism 18 with or without anosmia:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Hypogonadotropic Hypogonadism 18 with or Without Anosmia

OMIM : 57 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 as well as a discussion of oligogenicity of this disorder, see 147950. (615267)

MalaCards based summary : Hypogonadotropic Hypogonadism 18 with or Without Anosmia, is also known as hh18. An important gene associated with Hypogonadotropic Hypogonadism 18 with or Without Anosmia is IL17RD (Interleukin 17 Receptor D). Affiliated tissues include pituitary and olfactory bulb, and related phenotypes are hypogonadism and abnormality of the dentition

Disease Ontology : 12 A hypogonadotropic hypogonadism that has material basis in heterozygous or homozygous mutation in the IL17RD gene on chromosome 3p14, sometimes in association with mutation in other genes.

UniProtKB/Swiss-Prot : 75 Hypogonadotropic hypogonadism 18 with or without anosmia: 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. In some cases, it is associated with non- reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin- releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH).

Related Diseases for Hypogonadotropic Hypogonadism 18 with or Without Anosmia

Symptoms & Phenotypes for Hypogonadotropic Hypogonadism 18 with or Without Anosmia

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
hearing loss (in some patients)

Head And Neck Teeth:
abnormal dentition (in some patients)

Skeletal:
osteopenia (in some patients)
osteoporosis (in some patients)
fractures (in some patients)

Endocrine Features:
delayed or absent puberty

Head And Neck Nose:
hyposmia/anosmia

Genitourinary:
delayed or absent puberty

Neurologic Central Nervous System:
hyposmia/anosmia


Clinical features from OMIM:

615267

Human phenotypes related to Hypogonadotropic Hypogonadism 18 with or Without Anosmia:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 hypogonadism 32 HP:0000135
2 abnormality of the dentition 32 occasional (7.5%) HP:0000164
3 hearing impairment 32 occasional (7.5%) HP:0000365
4 anosmia 32 occasional (7.5%) HP:0000458
5 osteopenia 32 occasional (7.5%) HP:0000938
6 osteoporosis 32 occasional (7.5%) HP:0000939

Drugs & Therapeutics for Hypogonadotropic Hypogonadism 18 with or Without Anosmia

Search Clinical Trials , NIH Clinical Center for Hypogonadotropic Hypogonadism 18 with or Without Anosmia

Genetic Tests for Hypogonadotropic Hypogonadism 18 with or Without Anosmia

Genetic tests related to Hypogonadotropic Hypogonadism 18 with or Without Anosmia:

# Genetic test Affiliating Genes
1 Hypogonadotropic Hypogonadism 18 with or Without Anosmia 29 IL17RD

Anatomical Context for Hypogonadotropic Hypogonadism 18 with or Without Anosmia

MalaCards organs/tissues related to Hypogonadotropic Hypogonadism 18 with or Without Anosmia:

41
Pituitary, Olfactory Bulb

Publications for Hypogonadotropic Hypogonadism 18 with or Without Anosmia

Variations for Hypogonadotropic Hypogonadism 18 with or Without Anosmia

UniProtKB/Swiss-Prot genetic disease variations for Hypogonadotropic Hypogonadism 18 with or Without Anosmia:

75
# Symbol AA change Variation ID SNP ID
1 IL17RD p.Lys131Thr VAR_069936 rs184758350
2 IL17RD p.Lys162Arg VAR_069937
3 IL17RD p.Pro306Ser VAR_069938
4 IL17RD p.Tyr379Cys VAR_069939 rs369641068
5 IL17RD p.Ser468Leu VAR_069940 rs145221454
6 IL17RD p.Pro577Gln VAR_069941 rs587776980
7 IL17RD p.Ala735Val VAR_069942 rs587776979

Expression for Hypogonadotropic Hypogonadism 18 with or Without Anosmia

Search GEO for disease gene expression data for Hypogonadotropic Hypogonadism 18 with or Without Anosmia.

Pathways for Hypogonadotropic Hypogonadism 18 with or Without Anosmia

GO Terms for Hypogonadotropic Hypogonadism 18 with or Without Anosmia

Sources for Hypogonadotropic Hypogonadism 18 with or Without Anosmia

3 CDC
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17 ExPASy
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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73 UMLS
74 UMLS via Orphanet
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