HH15
MCID: HYP511
MIFTS: 29

Hypogonadotropic Hypogonadism 15 with or Without Anosmia (HH15)

Categories: Cardiovascular diseases, Ear diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Rare diseases, Reproductive 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 57 12 72 29 13 6 70
Hh15 57 72
Hypogonadotropic Hypogonadism 15 with or Without Anosmia, Susceptibility to 6
Hypogonadism, Hypogonadotropic, Type 15 with/without Anosmia 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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:

31
hypogonadotropic hypogonadism 15 with or without anosmia:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0090075
OMIM® 57 614880
OMIM Phenotypic Series 57 PS147950
MeSH 44 D007006
ICD10 32 E23.0
UMLS 70 C3553977

Summaries for Hypogonadotropic Hypogonadism 15 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 the genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia as well as a discussion of oligogenicity of this disorder, see 147950. (614880) (Updated 20-May-2021)

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, liver 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 : 72 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:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 genu valgum 31 occasional (7.5%) HP:0002857
2 cleft palate 31 occasional (7.5%) HP:0000175
3 small pituitary gland 31 occasional (7.5%) HP:0012506
4 cryptorchidism 31 HP:0000028
5 primary amenorrhea 31 HP:0000786
6 micropenis 31 HP:0000054
7 decreased testicular size 31 HP:0008734

Symptoms via clinical synopsis from OMIM®:

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

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 29 HS6ST1

Anatomical Context for Hypogonadotropic Hypogonadism 15 with or Without Anosmia

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

40
Pituitary, Liver, Testes, Eye, Smooth Muscle, Heart

Publications for Hypogonadotropic Hypogonadism 15 with or Without Anosmia

Articles related to Hypogonadotropic Hypogonadism 15 with or Without Anosmia:

(show top 50) (show all 85)
# Title Authors PMID Year
1
Heparan sulfate 6-O-sulfotransferase 1, a gene involved in extracellular sugar modifications, is mutated in patients with idiopathic hypogonadotrophic hypogonadism. 57 6
21700882 2011
2
Analysis of protein-coding genetic variation in 60,706 humans. 6
27535533 2016
3
Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism. 57
23643382 2013
4
Reversal of idiopathic hypogonadotropic hypogonadism. 57
17761590 2007
5
Application of a machine learning approach to characterization of liver function using 99mTc-GSA SPECT/CT. 61
33675380 2021
6
Live Imaging of the Neural Crest Cell Epithelial-to-Mesenchymal Transition in the Chick Embryo. 61
32939716 2021
7
Ectopic release of nitric oxide modulates the onset of cardiac development in avian model. 61
32959218 2020
8
Validation set analysis to predict postoperative outcomes by technetium-99m galactosyl serum albumin scintigraphy for hepatectomy. 61
32073550 2020
9
Cryobacterium ruanii sp. nov. and Cryobacterium breve sp. nov., isolated from glaciers. 61
32100694 2020
10
In ovo technique for cell injection in the CPM followed by bead implantation in the BA2 of chicken embryos. 61
32021827 2020
11
Usefulness of serum Mac-2 binding protein glycosylation isomer in patients undergoing hepatectomy: A case controlled study. 61
31692665 2019
12
Correlation between Liver Elasticity by Ultrasound Elastography and Liver Functional Reserve. 61
31300223 2019
13
Significance of the preoperative regional maximal removal rate of technetium-99m-galactosyl human serum albumin in the future remnant liver: a sequential study of regional maximal removal rate of technetium-99m-galactosyl human serum albumin in the whole liver. 61
30650068 2019
14
Using 99mTc-DTPA galactosyl human serum albumin liver scintigraphy as a prognostic indicator in jaundice-free patients with biliary atresia. 61
30262199 2018
15
Heterogeneous liver uptake of Tc-99m-GSA as quantified through SPECT/CT helps to evaluate the degree of liver fibrosis: A retrospective observational study. 61
30075603 2018
16
Predictability of 99mTc-Galactosyl Human Serum Albumin Scintigraphy for Posthepatectomy Liver Failure. 61
29023153 2018
17
[68Ga]NOTA-Galactosyl Human Serum Albumin: a Tracer for Liver Function Imaging with Improved Stability. 61
28194629 2017
18
Preoperative regional maximal removal rate of technetium-99m-galactosyl human serum albumin is correlated with liver functional parameters, but did not predict postoperative morbidity. 61
28644197 2017
19
Index of convexity: A novel method for assessing liver functional reserve using technetium-99m-galactosyl human serum albumin liver scintigraphy. 61
28484186 2017
20
Measuring hepatic functional reserve using T1 mapping of Gd-EOB-DTPA enhanced 3T MR imaging: A preliminary study comparing with 99mTc GSA scintigraphy and signal intensity based parameters. 61
28624009 2017
21
Comparison of the DWI and Gd-EOB-DTPA-enhanced MRI on assessing the hepatic ischemia and reperfusion injury after partial hepatectomy. 61
27951418 2017
22
Tissue growth constrained by extracellular matrix drives invagination during optic cup morphogenesis. 61
26984743 2016
23
Novel Index (Hepatic Receptor: IHR) to Evaluate Hepatic Functional Reserve Using (99m)Tc-GSA Scintigraphy. 61
26902376 2016
24
[Devised a New Preoperative Simulation Using (99m)Tc-GSA SPECT Quantitative Method for Liver Resection]. 61
26796933 2016
25
Comprehensive Predictors of Portal Pressure from Functional Liver Reserve in Patients Who Underwent Hepatectomy. 61
27011484 2015
26
Chicken trunk neural crest migration visualized with HNK1. 61
25805416 2015
27
Clinical implication of the preoperative GSA index in ⁹⁹mTc-GSA scintigraphy in hepatitis C virus-related hepatocellular carcinoma. 61
25528990 2015
28
Postoperative assessment of hepatic asialoglycoprotein receptor function with Tc-99m GSA: the safety margin of resection size in living donor liver transplantation. 61
25620580 2015
29
Hepatic clearance measured with (99m)Tc-GSA single-photon emission computed tomography to estimate liver fibrosis. 61
25469042 2014
30
Asialoglycoprotein receptor scintigraphy with 99mTc-galactosyl human serum albumin (99mTc-GSA) as an early predictor of survival in acute liver failure. 61
23808513 2013
31
Naasia aerilata gen. nov., sp. nov., a member of the family Microbacteriaceae isolated from air. 61
23203625 2013
32
The transcription factor chicken Scratch2 is expressed in a subset of early postmitotic neural progenitors. 61
23570883 2013
33
Improved reproducibility of simple quantitative indices from ⁹⁹mTc-GSA liver functional imaging. 61
23595899 2013
34
Area between the hepatic and heart curves of (99m)Tc-galactosyl-human serum albumin scintigraphy represents liver function and disease progression for preoperative evaluation in hepatocellular carcinoma patients. 61
22179579 2012
35
Quantitative analysis of liver function using superparamagnetic iron oxide- and Gd-EOB-DTPA-enhanced MRI: comparison with Technetium-99m galactosyl serum albumin scintigraphy. 61
21435811 2012
36
Cryobacterium flavum sp. nov. and Cryobacterium luteum sp. nov., isolated from glacier ice. 61
21784961 2012
37
Prediction of indocyanine green retention rate at 15 minutes by correlated liver function parameters before hepatectomy. 61
21658719 2011
38
Natural course of the remnant hepatic functional reserve as estimated by technetium-99m-galactosyl human serum albumin scintigraphy after a hepatectomy. 61
19894018 2010
39
Simultaneous evaluation of portal hemodynamics and liver function by scintiphotosplenoportography in pediatric recipients of living-donor liver transplants. 61
19621709 2009
40
Prognostic impact of surgical complications and preoperative serum hepatocyte growth factor in hepatocellular carcinoma patients after initial hepatectomy. 61
18846405 2009
41
[Preoperative evaluation of liver function using 99mTc-diethyl iminodiacetic acid based on single photon emission computed tomography]. 61
18795611 2008
42
Preoperative evaluation of hepatic functional reserve by converted ICGR15 calculated from Tc-GSA scintigraphy. 61
18522682 2008
43
Differential expression of Eya1 and Eya2 during chick early embryonic development. 61
18316249 2008
44
Roles of FGFR3 during morphogenesis of Meckel's cartilage and mandibular bones. 61
18339367 2008
45
Relationship between (99m)Tc-GSA scintigraphic indices of liver function reserve and portal circulation in patients with chronic liver disease. 61
17634841 2007
46
Evaluation of hepatic function with (99m)Tc-galactosylated serum albumin scintigraphy in patients with malaria: comparison with (99m)Tc-colloid scintigraphy and liver ultrasonography. 61
17198349 2007
47
Preoperative assessment of congestive liver dysfunction using technetium-99 m galactosyl human serum albumin liver scintigraphy in patients with severe valvular heart disease. 61
17593475 2007
48
A BMP-mediated transcriptional cascade involving Cash1 and Tlx-3 specifies first-order relay sensory neurons in the developing hindbrain. 61
15922575 2005
49
Expression of Fgf19 in the developing chick eye. 61
15862633 2005
50
Coronary artery and orifice development is associated with proper timing of epicardial outgrowth and correlated Fas-ligand-associated apoptosis patterns. 61
15705966 2005

Variations for Hypogonadotropic Hypogonadism 15 with or Without Anosmia

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HS6ST1 HS6ST1, ARG372TRP SNV risk factor 39689 GRCh37:
GRCh38:
2 HS6ST1 NM_004807.3(HS6ST1):c.955T>A (p.Tyr319Asn) SNV Uncertain significance 930865 GRCh37: 2:129026017-129026017
GRCh38: 2:128268443-128268443
3 HS6ST1 NM_004807.3(HS6ST1):c.1144C>T (p.Arg382Trp) SNV Benign 180161 rs199538589 GRCh37: 2:129025828-129025828
GRCh38: 2:128268254-128268254

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

72
# 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

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
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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