HH17
MCID: HYP538
MIFTS: 22

Hypogonadotropic Hypogonadism 17 with or Without Anosmia (HH17)

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

Aliases & Classifications for Hypogonadotropic Hypogonadism 17 with or Without Anosmia

MalaCards integrated aliases for Hypogonadotropic Hypogonadism 17 with or Without Anosmia:

Name: Hypogonadotropic Hypogonadism 17 with or Without Anosmia 58 12 76 30 6 74
Hh17 58 76
Hypogonadism, Hypogonadotropic, Type 17 with/without Anosmia 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant (see miscellaneous below)

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 more than 1 neuroendocrine-related gene


HPO:

33
hypogonadotropic hypogonadism 17 with or without anosmia:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0090079
OMIM 58 615266
MeSH 45 D007006
ICD10 34 E23.0
UMLS 74 C3808971

Summaries for Hypogonadotropic Hypogonadism 17 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 genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia as well as a discussion of oligogenicity of this disorder, see 147950. (615266)

MalaCards based summary : Hypogonadotropic Hypogonadism 17 with or Without Anosmia, is also known as hh17. An important gene associated with Hypogonadotropic Hypogonadism 17 with or Without Anosmia is SPRY4 (Sprouty RTK Signaling Antagonist 4). Affiliated tissues include pituitary and olfactory bulb, and related phenotypes are hearing impairment and abnormality of the dentition

Disease Ontology : 12 A hypogonadotropic hypogonadism that has material basis in heterozygous mutation in the SPRY4 gene on chromosome 5q31, sometimes in association with mutations in other genes.

UniProtKB/Swiss-Prot : 76 Hypogonadotropic hypogonadism 17 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 17 with or Without Anosmia

Symptoms & Phenotypes for Hypogonadotropic Hypogonadism 17 with or Without Anosmia

Human phenotypes related to Hypogonadotropic Hypogonadism 17 with or Without Anosmia:

33
# Description HPO Frequency HPO Source Accession
1 hearing impairment 33 occasional (7.5%) HP:0000365
2 abnormality of the dentition 33 occasional (7.5%) HP:0000164

Symptoms via clinical synopsis from OMIM:

58
Genitourinary:
delayed or absent puberty

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

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

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

Endocrine Features:
delayed or absent puberty

Neurologic Central Nervous System:
hyposmia/anosmia (in some patients)

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

Clinical features from OMIM:

615266

Drugs & Therapeutics for Hypogonadotropic Hypogonadism 17 with or Without Anosmia

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Post-extubation Dysphagia Enrolling by invitation NCT03761823

Search NIH Clinical Center for Hypogonadotropic Hypogonadism 17 with or Without Anosmia

Genetic Tests for Hypogonadotropic Hypogonadism 17 with or Without Anosmia

Genetic tests related to Hypogonadotropic Hypogonadism 17 with or Without Anosmia:

# Genetic test Affiliating Genes
1 Hypogonadotropic Hypogonadism 17 with or Without Anosmia 30 SPRY4

Anatomical Context for Hypogonadotropic Hypogonadism 17 with or Without Anosmia

MalaCards organs/tissues related to Hypogonadotropic Hypogonadism 17 with or Without Anosmia:

42
Pituitary, Olfactory Bulb

Publications for Hypogonadotropic Hypogonadism 17 with or Without Anosmia

Articles related to Hypogonadotropic Hypogonadism 17 with or Without Anosmia:

# Title Authors Year
1
Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism. ( 23643382 )
2013

Variations for Hypogonadotropic Hypogonadism 17 with or Without Anosmia

UniProtKB/Swiss-Prot genetic disease variations for Hypogonadotropic Hypogonadism 17 with or Without Anosmia:

76
# Symbol AA change Variation ID SNP ID
1 SPRY4 p.Thr77Met VAR_069929 rs774674946
2 SPRY4 p.Asp82Asn VAR_069930 rs568363732
3 SPRY4 p.Lys154Arg VAR_069931 rs78310959
4 SPRY4 p.Cys186Tyr VAR_069932 rs148983803
5 SPRY4 p.Ser218Tyr VAR_069933 rs139512218
6 SPRY4 p.Val258Met VAR_069934 rs200364529
7 SPRY4 p.Val281Ile VAR_069935 rs142439525

ClinVar genetic disease variations for Hypogonadotropic Hypogonadism 17 with or Without Anosmia:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SPRY4 NM_030964.3(SPRY4): c.530A> G (p.Lys177Arg) single nucleotide variant Uncertain significance rs78310959 GRCh37 Chromosome 5, 141694213: 141694213
2 SPRY4 NM_030964.3(SPRY4): c.530A> G (p.Lys177Arg) single nucleotide variant Uncertain significance rs78310959 GRCh38 Chromosome 5, 142314648: 142314648
3 SPRY4 NM_030964.3(SPRY4): c.910G> A (p.Val304Ile) single nucleotide variant Pathogenic rs142439525 GRCh38 Chromosome 5, 142314268: 142314268
4 SPRY4 NM_030964.3(SPRY4): c.910G> A (p.Val304Ile) single nucleotide variant Pathogenic rs142439525 GRCh37 Chromosome 5, 141693833: 141693833
5 SPRY4 NM_030964.3(SPRY4): c.722C> A (p.Ser241Tyr) single nucleotide variant Uncertain significance rs139512218 GRCh37 Chromosome 5, 141694021: 141694021
6 SPRY4 NM_030964.3(SPRY4): c.722C> A (p.Ser241Tyr) single nucleotide variant Uncertain significance rs139512218 GRCh38 Chromosome 5, 142314456: 142314456
7 SPRY4 NM_001127496.1(SPRY4): c.46G> A (p.Val16Ile) single nucleotide variant Pathogenic rs587776981 GRCh37 Chromosome 5, 141694628: 141694628
8 SPRY4 NM_001127496.1(SPRY4): c.46G> A (p.Val16Ile) single nucleotide variant Pathogenic rs587776981 GRCh38 Chromosome 5, 142315063: 142315063

Expression for Hypogonadotropic Hypogonadism 17 with or Without Anosmia

Search GEO for disease gene expression data for Hypogonadotropic Hypogonadism 17 with or Without Anosmia.

Pathways for Hypogonadotropic Hypogonadism 17 with or Without Anosmia

GO Terms for Hypogonadotropic Hypogonadism 17 with or Without Anosmia

Sources for Hypogonadotropic Hypogonadism 17 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....