MCID: HYP518
MIFTS: 21

Hypogonadotropic Hypogonadism 16 with or Without Anosmia

Categories: Genetic diseases, Endocrine diseases

Aliases & Classifications for Hypogonadotropic Hypogonadism 16 with or Without Anosmia

MalaCards integrated aliases for Hypogonadotropic Hypogonadism 16 with or Without Anosmia:

Name: Hypogonadotropic Hypogonadism 16 with or Without Anosmia 57 12 75 29 13 6 73
Hh16 57 75
Hypogonadism, Hypogonadotropic, Type 16 with/without Anosmia 40

Characteristics:

OMIM:

57
Miscellaneous:
patients have normal pituitary function
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 more than 1 neuroendocrine-related gene

Inheritance:
autosomal dominant (see miscellaneous below)


HPO:

32
hypogonadotropic hypogonadism 16 with or without anosmia:
Onset and clinical course phenotypic variability
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 614897
Disease Ontology 12 DOID:0090080
ICD10 33 E23.0
MeSH 44 D007006
UMLS 73 C3554021

Summaries for Hypogonadotropic Hypogonadism 16 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. (614897)

MalaCards based summary : Hypogonadotropic Hypogonadism 16 with or Without Anosmia, is also known as hh16. An important gene associated with Hypogonadotropic Hypogonadism 16 with or Without Anosmia is SEMA3A (Semaphorin 3A). Affiliated tissues include pituitary, olfactory bulb and testes, and related phenotypes are azoospermia and cryptorchidism

UniProtKB/Swiss-Prot : 75 Hypogonadotropic hypogonadism 16 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).

Disease Ontology : 12 A hypogonadotropic hypogonadism that has material basis in mutation in the SEMA3A gene on chromosome 7, sometimes in association with mutations in other genes.

Related Diseases for Hypogonadotropic Hypogonadism 16 with or Without Anosmia

Symptoms & Phenotypes for Hypogonadotropic Hypogonadism 16 with or Without Anosmia

Symptoms via clinical synopsis from OMIM:

57
GenitourinaryInternal GenitaliaMale:
cryptorchidism
azoospermia
small testes

Genitourinary External Genitalia Male:
micropenis

Genitourinary:
delayed or absent puberty

Head And Neck Nose:
hyposmia/anosmia

Genitourinary Internal Genitalia Female:
primary amenorrhea

Chest Breasts:
delayed or absent thelarche

Endocrine Features:
delayed or absent puberty
low serum testosterone in males
low serum estradiol in females
low to normal serum lh low to normal serum fsh

Neurologic Central Nervous System:
hyposmia/anosmia


Clinical features from OMIM:

614897

Human phenotypes related to Hypogonadotropic Hypogonadism 16 with or Without Anosmia:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 azoospermia 32 HP:0000027
2 cryptorchidism 32 HP:0000028
3 micropenis 32 HP:0000054
4 anosmia 32 HP:0000458
5 primary amenorrhea 32 HP:0000786
6 decreased testicular size 32 HP:0008734

Drugs & Therapeutics for Hypogonadotropic Hypogonadism 16 with or Without Anosmia

Search Clinical Trials , NIH Clinical Center for Hypogonadotropic Hypogonadism 16 with or Without Anosmia

Genetic Tests for Hypogonadotropic Hypogonadism 16 with or Without Anosmia

Genetic tests related to Hypogonadotropic Hypogonadism 16 with or Without Anosmia:

# Genetic test Affiliating Genes
1 Hypogonadotropic Hypogonadism 16 with or Without Anosmia 29 SEMA3A

Anatomical Context for Hypogonadotropic Hypogonadism 16 with or Without Anosmia

MalaCards organs/tissues related to Hypogonadotropic Hypogonadism 16 with or Without Anosmia:

41
Pituitary, Olfactory Bulb, Testes

Publications for Hypogonadotropic Hypogonadism 16 with or Without Anosmia

Variations for Hypogonadotropic Hypogonadism 16 with or Without Anosmia

UniProtKB/Swiss-Prot genetic disease variations for Hypogonadotropic Hypogonadism 16 with or Without Anosmia:

75
# Symbol AA change Variation ID SNP ID
1 SEMA3A p.Arg66Trp VAR_069200 rs199979628
2 SEMA3A p.Asn153Ser VAR_069201 rs139295139
3 SEMA3A p.Ile400Val VAR_069202 rs36026860
4 SEMA3A p.Val435Ile VAR_069203 rs147436181
5 SEMA3A p.Thr688Ala VAR_069204 rs318240751
6 SEMA3A p.Arg730Gln VAR_069205 rs318240752
7 SEMA3A p.Arg733His VAR_069206 rs318240753
8 SEMA3A p.Met342Thr VAR_072987
9 SEMA3A p.Asp447Gly VAR_072988 rs761486957
10 SEMA3A p.Ile657Met VAR_072990 rs748219597

ClinVar genetic disease variations for Hypogonadotropic Hypogonadism 16 with or Without Anosmia:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SEMA3A SEMA3A, 213-KB DEL deletion risk factor
2 SEMA3A SEMA3A, 14-BP DEL, NT1613 deletion risk factor

Expression for Hypogonadotropic Hypogonadism 16 with or Without Anosmia

Search GEO for disease gene expression data for Hypogonadotropic Hypogonadism 16 with or Without Anosmia.

Pathways for Hypogonadotropic Hypogonadism 16 with or Without Anosmia

GO Terms for Hypogonadotropic Hypogonadism 16 with or Without Anosmia

Sources for Hypogonadotropic Hypogonadism 16 with or Without Anosmia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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