HH17
MCID: HYP538
MIFTS: 25

Hypogonadotropic Hypogonadism 17 with or Without Anosmia (HH17)

Categories: Cardiovascular diseases, Ear diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Rare diseases, Reproductive 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 57 12 72 29 6 70
Hh17 57 72
Hypogonadism, Hypogonadotropic, Type 17 with/without Anosmia 39

Characteristics:

OMIM®:

57 (Updated 20-May-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 17 with or without anosmia:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0090079
OMIM® 57 615266
OMIM Phenotypic Series 57 PS147950
MeSH 44 D007006
ICD10 32 E23.0
UMLS 70 C3808971

Summaries for Hypogonadotropic Hypogonadism 17 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. (615266) (Updated 20-May-2021)

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 heart, 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 : 72 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:

31
# Description HPO Frequency HPO Source Accession
1 hearing impairment 31 occasional (7.5%) HP:0000365
2 abnormality of the dentition 31 occasional (7.5%) HP:0000164

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

Drugs & Therapeutics for Hypogonadotropic Hypogonadism 17 with or Without Anosmia

Search Clinical Trials , 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 29 SPRY4

Anatomical Context for Hypogonadotropic Hypogonadism 17 with or Without Anosmia

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

40
Pituitary, Heart

Publications for Hypogonadotropic Hypogonadism 17 with or Without Anosmia

Articles related to Hypogonadotropic Hypogonadism 17 with or Without Anosmia:

(show all 27)
# Title Authors PMID Year
1
Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism. 6 57
23643382 2013
2
Reversal of idiopathic hypogonadotropic hypogonadism. 57
17761590 2007
3
Chicken Second Branchial Arch Progenitor Cells Contribute to Heart Musculature in vitro and in vivo. 61
33423027 2021
4
Mini-review; deriving avian stem cells by small molecules. 61
32867659 2020
5
A Novel Ex Ovo Banding Technique to Alter Intracardiac Hemodynamics in an Embryonic Chicken System. 61
27213265 2016
6
Acetylcholinesterase Regulates Skeletal In Ovo Development of Chicken Limbs by ACh-Dependent and -Independent Mechanisms. 61
27574787 2016
7
MORN5 Expression during Craniofacial Development and Its Interaction with the BMP and TGFβ Pathways. 61
27630576 2016
8
Matrix Gla Protein expression pattern in the early avian embryo. 61
26934291 2016
9
Chicken trunk neural crest migration visualized with HNK1. 61
25805416 2015
10
Optical coherence tomography provides an ability to assess mechanical property of cardiac wall of developing outflow tract in embryonic heart in vivo. 61
23208209 2012
11
Decorin developmental expression and function in the early avian embryo. 61
21948712 2011
12
Hemodynamic patterning of the avian atrioventricular valve. 61
21181939 2011
13
Altered cardiac function and ventricular septal defect in avian embryos exposed to low-dose trichloroethylene. 61
19910388 2010
14
Differential expression of Eya1 and Eya2 during chick early embryonic development. 61
18316249 2008
15
Transitions in early embryonic atrioventricular valvular function correspond with changes in cushion biomechanics that are predictable by tissue composition. 61
17478728 2007
16
The expression of Fat-1 cadherin during chick limb development. 61
17294369 2007
17
Spatial and temporal expression of perlecan in the early chick embryo. 61
17785960 2007
18
Developmentally regulated expression and functional role of alpha 7 integrin in the chick embryo. 61
15206960 2004
19
Analysis of cCx39 expression pattern during chick development. 61
14766195 2004
20
Evidence for an extracellular matrix bridge guiding proepicardial cell migration to the myocardium of chick embryos. 61
12889060 2003
21
Temporal restriction of migratory and lineage potential in rhombomere 1 and 2 neural crest. 61
12618134 2003
22
Temporal sequence of gene expression leading caudal prosencephalon to develop a midbrain/hindbrain phenotype. 61
11803577 2002
23
Hemangioblast commitment in the avian allantois: cellular and molecular aspects. 61
11783994 2001
24
The development of the coronary vessels and their differentiation into arteries and veins in the embryonic quail heart. 61
9056638 1997
25
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
26
Apoptosis removes chick embryo tail gut and remnant of the primitive streak. 61
8725288 1996
27
Shaping, invagination, and closure of the chick embryo otic vesicle: scanning electron microscopic and quantitative study. 61
2260786 1990

Variations for Hypogonadotropic Hypogonadism 17 with or Without Anosmia

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SPRY4 NM_030964.4(SPRY4):c.530A>G (p.Lys177Arg) SNV Pathogenic 50872 rs78310959 GRCh37: 5:141694213-141694213
GRCh38: 5:142314648-142314648
2 SPRY4 NM_030964.4(SPRY4):c.115G>A (p.Val39Ile) SNV Pathogenic 50875 rs587776981 GRCh37: 5:141694628-141694628
GRCh38: 5:142315063-142315063
3 SPRY4 NM_001127496.3(SPRY4):c.653C>A (p.Ser218Tyr) SNV risk factor 50874 rs139512218 GRCh37: 5:141694021-141694021
GRCh38: 5:142314456-142314456
4 SPRY4 NM_030964.4(SPRY4):c.910G>A (p.Val304Ile) SNV Conflicting interpretations of pathogenicity 50873 rs142439525 GRCh37: 5:141693833-141693833
GRCh38: 5:142314268-142314268

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

72
# 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

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
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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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