HH15
MCID: HYP511
MIFTS: 24

Hypogonadotropic Hypogonadism 15 with or Without Anosmia (HH15)

Categories: Endocrine diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Reproductive diseases, Smell/Taste diseases

Aliases & Classifications for Hypogonadotropic Hypogonadism 15 with or Without Anosmia

MalaCards integrated aliases for Hypogonadotropic Hypogonadism 15 with or Without Anosmia:

Name: Hypogonadotropic Hypogonadism 15 with or Without Anosmia 58 12 76 30 13 74
Hh15 58 76
Hypogonadotropic Hypogonadism 15 with or Without Anosmia, Susceptibility to 6
Hypogonadism, Hypogonadotropic, Type 15 with/without Anosmia 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
spontaneous reversal of gnrh deficiency may occur in some patients
phenotypic variability within families and among patients carrying the same mutation
oligogenic disorder in some patients who carry mutations in more than one neuroendocrine-related gene


HPO:

33
hypogonadotropic hypogonadism 15 with or without anosmia:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0090075
OMIM 58 614880
MeSH 45 D007006
ICD10 34 23.0
UMLS 74 C3553977

Summaries for Hypogonadotropic Hypogonadism 15 with or Without Anosmia

OMIM : 58 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 the genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia as well as a discussion of oligogenicity of this disorder, see 147950. (614880)

MalaCards based summary : Hypogonadotropic Hypogonadism 15 with or Without Anosmia, is also known as hh15. An important gene associated with Hypogonadotropic Hypogonadism 15 with or Without Anosmia is HS6ST1 (Heparan Sulfate 6-O-Sulfotransferase 1). Affiliated tissues include pituitary, olfactory bulb and testes, and related phenotypes are genu valgum and cleft palate

Disease Ontology : 12 A hypogonadotropic hypogonadism that has material basis in mutation in the HS6ST1 gene on chromosome 2q14, sometimes in association with mutations in other genes.

UniProtKB/Swiss-Prot : 76 Hypogonadotropic hypogonadism 15 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 15 with or Without Anosmia

Symptoms & Phenotypes for Hypogonadotropic Hypogonadism 15 with or Without Anosmia

Human phenotypes related to Hypogonadotropic Hypogonadism 15 with or Without Anosmia:

33 (show all 7)
# Description HPO Frequency HPO Source Accession
1 genu valgum 33 occasional (7.5%) HP:0002857
2 cleft palate 33 occasional (7.5%) HP:0000175
3 small pituitary gland 33 occasional (7.5%) HP:0012506
4 cryptorchidism 33 HP:0000028
5 primary amenorrhea 33 HP:0000786
6 decreased testicular size 33 HP:0008734
7 micropenis 33 HP:0000054

Symptoms via clinical synopsis from OMIM:

58
Genitourinary External Genitalia Male:
cryptorchidism
micropenis
small testes

Head And Neck Mouth:
cleft palate (in some patients)

Genitourinary:
delayed or absent puberty

Head And Neck Nose:
hyposmia/anosmia (in some patients)

Skeletal:
osteopenia or osteoporosis (in some patients)

Genitourinary Internal Genitalia Female:
primary amenorrhea

Chest Breasts:
delayed or absent thelarche

Endocrine Features:
delayed or absent puberty
normal pituitary function
lack of lh pulsatility
low serum testosterone in males
low serum estradiol in females
more
Neurologic Central Nervous System:
hyposmia/anosmia (in some patients)
small pituitary gland (in some patients)

Skeletal Limbs:
genu valgus, bilateral (in some patients)

Clinical features from OMIM:

614880

Drugs & Therapeutics for Hypogonadotropic Hypogonadism 15 with or Without Anosmia

Search Clinical Trials , NIH Clinical Center for Hypogonadotropic Hypogonadism 15 with or Without Anosmia

Genetic Tests for Hypogonadotropic Hypogonadism 15 with or Without Anosmia

Genetic tests related to Hypogonadotropic Hypogonadism 15 with or Without Anosmia:

# Genetic test Affiliating Genes
1 Hypogonadotropic Hypogonadism 15 with or Without Anosmia 30 HS6ST1

Anatomical Context for Hypogonadotropic Hypogonadism 15 with or Without Anosmia

MalaCards organs/tissues related to Hypogonadotropic Hypogonadism 15 with or Without Anosmia:

42
Pituitary, Olfactory Bulb, Testes

Publications for Hypogonadotropic Hypogonadism 15 with or Without Anosmia

Articles related to Hypogonadotropic Hypogonadism 15 with or Without Anosmia:

# Title Authors Year
1
Analysis of protein-coding genetic variation in 60,706 humans. ( 27535533 )
2016
2
Heparan sulfate 6-O-sulfotransferase 1, a gene involved in extracellular sugar modifications, is mutated in patients with idiopathic hypogonadotrophic hypogonadism. ( 21700882 )
2011

Variations for Hypogonadotropic Hypogonadism 15 with or Without Anosmia

UniProtKB/Swiss-Prot genetic disease variations for Hypogonadotropic Hypogonadism 15 with or Without Anosmia:

76
# Symbol AA change Variation ID SNP ID
1 HS6ST1 p.Arg306Gln VAR_069283 rs201307896
2 HS6ST1 p.Arg306Trp VAR_069284 rs780352591
3 HS6ST1 p.Arg323Gln VAR_069285 rs761325768
4 HS6ST1 p.Arg382Trp VAR_069286 rs199538589
5 HS6ST1 p.Met404Val VAR_069287
6 HS6ST1 p.Pro218Ser VAR_072980 rs200268730

ClinVar genetic disease variations for Hypogonadotropic Hypogonadism 15 with or Without Anosmia:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 HS6ST1 HS6ST1, ARG372TRP single nucleotide variant risk factor

Expression for Hypogonadotropic Hypogonadism 15 with or Without Anosmia

Search GEO for disease gene expression data for Hypogonadotropic Hypogonadism 15 with or Without Anosmia.

Pathways for Hypogonadotropic Hypogonadism 15 with or Without Anosmia

GO Terms for Hypogonadotropic Hypogonadism 15 with or Without Anosmia

Sources for Hypogonadotropic Hypogonadism 15 with or Without Anosmia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....