HH20
MCID: HYP546
MIFTS: 23

Hypogonadotropic Hypogonadism 20 with or Without Anosmia (HH20)

Categories: Cardiovascular diseases, Ear diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Hypogonadotropic Hypogonadism 20 with or Without Anosmia

MalaCards integrated aliases for Hypogonadotropic Hypogonadism 20 with or Without Anosmia:

Name: Hypogonadotropic Hypogonadism 20 with or Without Anosmia 57 12 72 29 6 70
Hh20 57 72
Hypogonadism, Hypogonadotropic, Type 20 with/without Anosmia 39
Hypogonadotropic Hypogonadism 20 Without Anosmia 6

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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:

31
hypogonadotropic hypogonadism 20 with or without anosmia:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0090082
OMIM® 57 615270
OMIM Phenotypic Series 57 PS147950
MeSH 44 D007006
ICD10 32 E23.0
UMLS 70 C3808983

Summaries for Hypogonadotropic Hypogonadism 20 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. (615270) (Updated 05-Apr-2021)

MalaCards based summary : Hypogonadotropic Hypogonadism 20 with or Without Anosmia, is also known as hh20. An important gene associated with Hypogonadotropic Hypogonadism 20 with or Without Anosmia is FGF17 (Fibroblast Growth Factor 17). Affiliated tissues include pituitary, and related phenotypes are osteopenia and osteoporosis

Disease Ontology : 12 A hypogonadotropic hypogonadism that has material basis in heterozygous mutation in the FGF17 gene on chromosome 8p21, sometimes in association with mutations in other genes.

UniProtKB/Swiss-Prot : 72 Hypogonadotropic hypogonadism 20 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 20 with or Without Anosmia

Symptoms & Phenotypes for Hypogonadotropic Hypogonadism 20 with or Without Anosmia

Human phenotypes related to Hypogonadotropic Hypogonadism 20 with or Without Anosmia:

31
# Description HPO Frequency HPO Source Accession
1 osteopenia 31 occasional (7.5%) HP:0000938
2 osteoporosis 31 occasional (7.5%) HP:0000939
3 delayed puberty 31 HP:0000823
4 hypogonadism 31 HP:0000135

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal:
osteopenia (in some patients)
osteoporosis (in some patients)
fractures (in some patients)

Endocrine Features:
delayed or absent puberty

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

Genitourinary:
delayed or absent puberty

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

Head And Neck Mouth:
cleft lip and/or palate (in some patients)

Clinical features from OMIM®:

615270 (Updated 05-Apr-2021)

Drugs & Therapeutics for Hypogonadotropic Hypogonadism 20 with or Without Anosmia

Search Clinical Trials , NIH Clinical Center for Hypogonadotropic Hypogonadism 20 with or Without Anosmia

Genetic Tests for Hypogonadotropic Hypogonadism 20 with or Without Anosmia

Genetic tests related to Hypogonadotropic Hypogonadism 20 with or Without Anosmia:

# Genetic test Affiliating Genes
1 Hypogonadotropic Hypogonadism 20 with or Without Anosmia 29 FGF17

Anatomical Context for Hypogonadotropic Hypogonadism 20 with or Without Anosmia

MalaCards organs/tissues related to Hypogonadotropic Hypogonadism 20 with or Without Anosmia:

40
Pituitary

Publications for Hypogonadotropic Hypogonadism 20 with or Without Anosmia

Articles related to Hypogonadotropic Hypogonadism 20 with or Without Anosmia:

(show all 20)
# Title Authors PMID Year
1
Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism. 57 6
23643382 2013
2
Heparan sulfate 6-O-sulfotransferase 1, a gene involved in extracellular sugar modifications, is mutated in patients with idiopathic hypogonadotrophic hypogonadism. 6 57
21700882 2011
3
The syndrome of anosmia with hypogonadotropic hypogonadism: a genetic study of 18 new families and a review. 57 6
6881209 1983
4
Reversal of idiopathic hypogonadotropic hypogonadism. 57
17761590 2007
5
MORN5 Expression during Craniofacial Development and Its Interaction with the BMP and TGFβ Pathways. 61
27630576 2016
6
Chicken trunk neural crest migration visualized with HNK1. 61
25805416 2015
7
Depletion of Essential Fatty Acids in the Food Source Affects Aerobic Capacities of the Golden Grey Mullet Liza aurata in a Warming Seawater Context. 61
26030666 2015
8
The Rst-Neph family of cell adhesion molecules in Gallus gallus. 61
24914768 2014
9
Analysis of NUAK1 and NUAK2 expression during early chick development reveals specific patterns in the developing head. 61
25354459 2014
10
The effects of an environmentally relevant 58-congener polychlorinated biphenyl (PCB) mixture on cardiac development in the chick embryo. 61
23417652 2013
11
Gene transfer into older chicken embryos by ex ovo electroporation. 61
22872055 2012
12
Identification of early transcripts related to male development in chicken embryos. 61
20728927 2010
13
Neurovascular anatomy of the embryonic quail hindlimb. 61
19685501 2009
14
The keratocan gene is expressed in both ocular and non-ocular tissues during early chick development. 61
12935817 2003
15
Immunolocalization of the transcription factor Slug in the developing avian heart. 61
10672362 2000
16
[Formation of the boundary between the midbrain and the hindbrain: involvement of Otx2 and Gbx2 genes]. 61
11324311 2000
17
Comparative analysis of Otx2, Gbx2, Pax2, Fgf8 and Wnt1 gene expressions during the formation of the chick midbrain/hindbrain domain. 61
10330495 1999
18
Immunoreactivity of the ets-1 transcription factor correlates with areas of epithelial-mesenchymal transition in the developing avian heart. 61
9764544 1998
19
The caudal limit of Otx2 gene expression as a marker of the midbrain/hindbrain boundary: a study using in situ hybridisation and chick/quail homotopic grafts. 61
9012500 1996
20
Expression of the homeobox-containing gene En-2 during the development of the chick central nervous system. 61
7620626 1995

Variations for Hypogonadotropic Hypogonadism 20 with or Without Anosmia

ClinVar genetic disease variations for Hypogonadotropic Hypogonadism 20 with or Without Anosmia:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FGF17 NM_003867.4(FGF17):c.530G>A (p.Arg177His) SNV Pathogenic 50859 rs398123025 GRCh37: 8:21905639-21905639
GRCh38: 8:22048128-22048128
2 FGF17 NM_003867.4(FGF17):c.560A>G (p.Asn187Ser) SNV Pathogenic 50860 rs398123026 GRCh37: 8:21905669-21905669
GRCh38: 8:22048158-22048158
3 FGF17 NM_003867.4(FGF17):c.323T>C (p.Ile108Thr) SNV risk factor 50858 rs398123024 GRCh37: 8:21904110-21904110
GRCh38: 8:22046599-22046599

UniProtKB/Swiss-Prot genetic disease variations for Hypogonadotropic Hypogonadism 20 with or Without Anosmia:

72
# Symbol AA change Variation ID SNP ID
1 FGF17 p.Ile108Thr VAR_069947 rs398123024
2 FGF17 p.Arg177His VAR_069948 rs398123025
3 FGF17 p.Asn187Ser VAR_069949 rs398123026

Expression for Hypogonadotropic Hypogonadism 20 with or Without Anosmia

Search GEO for disease gene expression data for Hypogonadotropic Hypogonadism 20 with or Without Anosmia.

Pathways for Hypogonadotropic Hypogonadism 20 with or Without Anosmia

GO Terms for Hypogonadotropic Hypogonadism 20 with or Without Anosmia

Sources for Hypogonadotropic Hypogonadism 20 with or Without Anosmia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....