MCID: HYP535
MIFTS: 51

Hypogonadotropic Hypogonadism 7 with or Without Anosmia

Categories: Genetic diseases, Rare diseases, Endocrine diseases

Aliases & Classifications for Hypogonadotropic Hypogonadism 7 with or Without Anosmia

MalaCards integrated aliases for Hypogonadotropic Hypogonadism 7 with or Without Anosmia:

Name: Hypogonadotropic Hypogonadism 7 with or Without Anosmia 57 12 75 29 13 6
Idiopathic Hypogonadotropic Hypogonadism 57 75 73
Hypogonadism, Isolated, Hypogonadotropic 76 53
Hypogonadism, Isolated Hypogonadotropic 57 73
Hypogonadotropic Hypogonadism 75 73
Hh7 57 75
Ihh 57 75
Congenital Hypogonadotropic Hypogonadism Normosmic 75
Hypogonadotropic Hypogonadism 7 Without Anosmia 57
Idiopathic Hypogonadotropic Hypogonadism; Ihh 57
Isolated Hypogonadotropic Hypogonadism 75
Isolated Gonadotropin Deficiency 73
Klinefelter Syndrome 73
Hh 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
phenotypic variability has been described, with some patients exhibiting partial and others complete hypogonadotropic hypogonadism


HPO:

32
hypogonadotropic hypogonadism 7 with or without anosmia:
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



Summaries for Hypogonadotropic Hypogonadism 7 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, see 147950. (146110)

MalaCards based summary : Hypogonadotropic Hypogonadism 7 with or Without Anosmia, also known as idiopathic hypogonadotropic hypogonadism, is related to hypogonadotropic hypogonadism and normosmic congenital hypogonadotropic hypogonadism. An important gene associated with Hypogonadotropic Hypogonadism 7 with or Without Anosmia is GNRHR (Gonadotropin Releasing Hormone Receptor), and among its related pathways/superpathways is Hormone ligand-binding receptors. The drugs Methyltestosterone and Testosterone have been mentioned in the context of this disorder. Affiliated tissues include pituitary, testes and ovary, and related phenotypes are cryptorchidism and hypogonadotrophic hypogonadism

UniProtKB/Swiss-Prot : 75 Hypogonadotropic hypogonadism 7 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).

Disease Ontology : 12 A hypogonadotropic hypogonadism that has material basis in homozygous or compound heterozygous mutation in the GNRHR gene on chromosome 4q13, sometimes in association with mutation in another gene. No patients with anosmia have been reported.

Wikipedia : 76 Hypogonadism means diminished functional activity of the gonads—the testes or the ovaries —that may... more...

Related Diseases for Hypogonadotropic Hypogonadism 7 with or Without Anosmia

Diseases related to Hypogonadotropic Hypogonadism 7 with or Without Anosmia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 55)
# Related Disease Score Top Affiliating Genes
1 hypogonadotropic hypogonadism 27.5 DUSP6 FGF17 GNRH1 GNRHR POLR3B SPRY4
2 normosmic congenital hypogonadotropic hypogonadism 27.5 DUSP6 FGF17 GNRH1 GNRHR SPRY4 WDR11
3 hypogonadism 27.5 DUSP6 FGF17 GNRH1 GNRHR POLR3B SPRY4
4 kallmann syndrome 25.6 CCDC141 DUSP6 FEZF1 FGF17 FLRT3 GNRH1
5 brachydactyly, type a1 11.9
6 acrocapitofemoral dysplasia 11.9
7 tumoral calcinosis, hyperphosphatemic, familial, 1 11.8
8 brachydactyly 11.5
9 acrocallosal syndrome 11.3
10 hypogonadotropic hypogonadism 2 with or without anosmia 11.3
11 hypogonadotropic hypogonadism 3 with or without anosmia 11.3
12 hypogonadotropic hypogonadism 1 with or without anosmia 11.3
13 hypogonadotropic hypogonadism 4 with or without anosmia 11.3
14 hypogonadotropic hypogonadism 5 with or without anosmia 11.3
15 hypogonadotropic hypogonadism 6 with or without anosmia 11.3
16 hypogonadotropic hypogonadism 8 with or without anosmia 11.3
17 hypogonadotropic hypogonadism 9 with or without anosmia 11.3
18 hypogonadotropic hypogonadism 10 with or without anosmia 11.3
19 hypogonadotropic hypogonadism 11 with or without anosmia 11.3
20 hypogonadotropic hypogonadism 12 with or without anosmia 11.3
21 hypogonadotropic hypogonadism 13 with or without anosmia 11.3
22 hypogonadotropic hypogonadism 14 with or without anosmia 11.3
23 hypogonadotropic hypogonadism 15 with or without anosmia 11.3
24 hypogonadotropic hypogonadism 16 with or without anosmia 11.3
25 hypogonadotropic hypogonadism 17 with or without anosmia 11.3
26 hypogonadotropic hypogonadism 18 with or without anosmia 11.3
27 hypogonadotropic hypogonadism 19 with or without anosmia 11.3
28 hypogonadotropic hypogonadism 20 with or without anosmia 11.3
29 hypogonadotropic hypogonadism 21 with or without anosmia 11.3
30 hypogonadotropic hypogonadism 22 with or without anosmia 11.3
31 osteochondrosis 11.3
32 craniosynostosis philadelphia type 11.3
33 hypogonadotropic hypogonadism 24 without anosmia 11.1
34 isolated gonadotropin-releasing hormone deficiency 11.1
35 idiopathic hemiconvulsion-hemiplegia syndrome 11.0
36 metaphyseal chondrodysplasia, jansen type 10.9
37 enchondromatosis, multiple, ollier type 10.9
38 pancreas, annular 10.9
39 spondyloepiphyseal dysplasia congenita 10.9
40 chondrodysplasia, blomstrand type 10.9
41 intracranial hypertension, idiopathic 10.9
42 muenke syndrome 10.9
43 hypotrichosis 1 10.9
44 osteogenesis imperfecta, type v 10.9
45 multiple enchondromatosis, maffucci type 10.9
46 short stature with nonspecific skeletal abnormalities 10.9
47 multiple synostoses syndrome 10.9
48 small intestine leiomyosarcoma 10.9
49 small intestinal sarcoma 10.9
50 hypogonadotropic hypogonadism 23 without anosmia 10.2 GNRH1 GNRHR

Graphical network of the top 20 diseases related to Hypogonadotropic Hypogonadism 7 with or Without Anosmia:



Diseases related to Hypogonadotropic Hypogonadism 7 with or Without Anosmia

Symptoms & Phenotypes for Hypogonadotropic Hypogonadism 7 with or Without Anosmia

Symptoms via clinical synopsis from OMIM:

57
GenitourinaryInternal GenitaliaMale:
cryptorchidism
small testes
infertility (in some patients)

Chest:
gynecomastia
delayed or absent thelarche

Head And Neck Nose:
normal sense of smell

Skin Nails Hair Hair:
sparse to absent male facial hair
sparse to absent axillary hair
sparse to absent pubic hair

Genitourinary Internal Genitalia Female:
primary amenorrhea
infertility (in some patients)

Genitourinary External Genitalia Male:
small penis

Endocrine Features:
infertility (in some patients)
isolated hypogonadotropic hypogonadism
delayed or absent puberty
low luteinizing hormone (lh, see ) levels
low follicle-stimulating hormone (fsh, see ) levels
more
Voice:
puerile voice


Clinical features from OMIM:

146110

Human phenotypes related to Hypogonadotropic Hypogonadism 7 with or Without Anosmia:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 cryptorchidism 32 HP:0000028
2 hypogonadotrophic hypogonadism 32 HP:0000044
3 micropenis 32 HP:0000054
4 gynecomastia 32 HP:0000771
5 primary amenorrhea 32 HP:0000786
6 infertility 32 occasional (7.5%) HP:0000789
7 sparse axillary hair 32 HP:0002215
8 sparse pubic hair 32 HP:0002225
9 decreased testicular size 32 HP:0008734

MGI Mouse Phenotypes related to Hypogonadotropic Hypogonadism 7 with or Without Anosmia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.32 AXL CCDC141 FEZF1 FGF17 FLRT3 GNRH1

Drugs & Therapeutics for Hypogonadotropic Hypogonadism 7 with or Without Anosmia

Drugs for Hypogonadotropic Hypogonadism 7 with or Without Anosmia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 39)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methyltestosterone Approved Phase 4,Phase 1 58-18-4 6010
2
Testosterone Approved, Investigational Phase 4,Phase 2,Phase 1,Not Applicable 58-22-0 6013
3
Testosterone enanthate Approved Phase 4,Phase 1 315-37-7 9416
4
Testosterone undecanoate Approved, Investigational Phase 4,Phase 1 5949-44-0
5 Chorionic Gonadotropin Phase 4
6 Follicle Stimulating Hormone Phase 4,Phase 2
7 Hormone Antagonists Phase 4,Phase 2,Phase 1,Not Applicable
8 Hormones Phase 4,Phase 2,Phase 1,Not Applicable
9 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2,Phase 1,Not Applicable
10 Anabolic Agents Phase 4,Phase 1
11 Androgens Phase 4,Phase 1
12 Antineoplastic Agents, Hormonal Phase 4,Phase 1
13 Testosterone 17 beta-cypionate Phase 4,Phase 1
14
Citric Acid Approved, Nutraceutical, Vet_approved Phase 2 77-92-9 311
15
Enclomiphene Investigational Phase 2 15690-57-0
16 Clomiphene Phase 2
17 Estrogen Antagonists Phase 2,Phase 1
18 Estrogen Receptor Modulators Phase 2
19 Estrogens Phase 2,Phase 1
20 Fertility Agents Phase 2
21 Selective Estrogen Receptor Modulators Phase 2
22 Zuclomiphene Phase 2
23 Citrate Nutraceutical Phase 2
24
Anastrozole Approved, Investigational Phase 1 120511-73-1 2187
25 Steroid Synthesis Inhibitors Phase 1,Not Applicable
26 Aromatase Inhibitors Phase 1
27 Hypoglycemic Agents Phase 1
28 insulin Phase 1
29 Insulin, Globin Zinc Phase 1
30
Menotropins Approved 61489-71-2, 9002-68-0 5360545
31
Ketoconazole Approved, Investigational Not Applicable 65277-42-1 47576 3823
32
Miconazole Approved, Investigational, Vet_approved Not Applicable 22916-47-8 4189
33
Vitamin A Approved, Nutraceutical, Vet_approved 11103-57-4, 68-26-8 445354
34 Retinol palmitate
35 Antifungal Agents Not Applicable
36 Anti-Infective Agents Not Applicable
37 Cytochrome P-450 CYP3A Inhibitors Not Applicable
38 Cytochrome P-450 Enzyme Inhibitors Not Applicable
39 retinol Nutraceutical

Interventional clinical trials:

(show all 16)
# Name Status NCT ID Phase Drugs
1 Efficacy and Safety of Pulsatile Gonadotropin Releasing Hormone Pump Treatment in Patients With Idiopathic Hypogonadotropic Hypogonadism Unknown status NCT02310074 Phase 4 Pulsatile Gonadotropin Releasing Hormone;Human chorionic gonadotropin;Urinary Follicle-Stimulating Hormone
2 Effects of Medications in Patients With Hypogonadism Completed NCT01601327 Phase 4 Testosterone enanthate (Sustanon 250 mg);Human chorionic gonadotropin (hCG) (Pregnyl 5000 IU);Testosteron gel (Testojel 50 mg)
3 Study to Evaluate the Efficacy of Androxal in Controlling Blood Glucose in Men With Type-2 Diabetes Mellitus Completed NCT01191320 Phase 2 Placebo;Androxal
4 Follicle Stimulating Hormone (FSH) to Improve Testicular Development in Men With Hypogonadism Terminated NCT00064987 Phase 2 gonadotropin releasing hormone (GnRH);follicle stimulating hormone (FSH)
5 Effect of Varying Testosterone Levels on Insulin Sensitivity in Men With Idiopathic Hypogonadotropic Hypogonadism (IHH) Terminated NCT03118479 Phase 1 Anastrozole Pill;Testosterone;Placebo Oral Tablet
6 Effects of Gonadotropin Replacement Therapy on Metabolic Parameters in Patients With Hypogonadism Completed NCT02728440 human chorionic gonadotropin, human menopausal gonadotropin
7 Plasma RBP Levels in Patients With Idiopathic Hypogonadotrophic Hypogonadism Completed NCT01758094 Sustanon 250 mg ampule (Testosterone esters)
8 The Effects of Gonadotropin Replacement Therapy in Patients With Hypogonadism Completed NCT02042638 hCG 1500 IU three times a week;Pregnyl (hCG) ampule 1500 IU/three times a week
9 Health Needs of Patients With Kallmann Syndrome Completed NCT01914172
10 Investigating the Regulation of Reproductive Hormones in Adult Men Completed NCT00392457 Not Applicable ketoconazole;gonadotropin releasing hormone (GnRH)
11 Examination of Idiopathic Hypogonadotropic Hypogonadism (IHH)and Kallmann Syndrome (KS) Recruiting NCT00392756 Not Applicable gonadotropin releasing hormone (GnRH)
12 Investigation of the Genetic Causes of Kallmann Syndrome and Reproductive Disorders Recruiting NCT00494169
13 Baselines in Reproductive Disorders Recruiting NCT00456274 Not Applicable
14 Inherited Reproductive Disorders Recruiting NCT01500447
15 Studying the Effects of 7 Days of Gonadotropin Releasing Hormone (GnRH) Treatment in Men With Hypogonadism Active, not recruiting NCT00493961 Not Applicable gonadotropin releasing hormone (GnRH)
16 Detailed Clinical, Biochemical and Genetic Characterization in Gonadotropin-releasing Hormone (GnRH) Deficiency Disorders Terminated NCT01165619

Search NIH Clinical Center for Hypogonadotropic Hypogonadism 7 with or Without Anosmia

Genetic Tests for Hypogonadotropic Hypogonadism 7 with or Without Anosmia

Genetic tests related to Hypogonadotropic Hypogonadism 7 with or Without Anosmia:

# Genetic test Affiliating Genes
1 Hypogonadotropic Hypogonadism 7 with or Without Anosmia 29 AXL CCDC141 DUSP6 FEZF1 FGF17 FLRT3 GNRH1 GNRHR IL17RD POLR3B SEMA3E SPRY4 SRA1 WDR11

Anatomical Context for Hypogonadotropic Hypogonadism 7 with or Without Anosmia

MalaCards organs/tissues related to Hypogonadotropic Hypogonadism 7 with or Without Anosmia:

41
Pituitary, Testes, Ovary, Olfactory Bulb, Hypothalamus, Prostate, Heart

Publications for Hypogonadotropic Hypogonadism 7 with or Without Anosmia

Articles related to Hypogonadotropic Hypogonadism 7 with or Without Anosmia:

(show top 50) (show all 87)
# Title Authors Year
1
Deficiency in GnRH receptor trafficking due to a novel homozygous mutation causes idiopathic hypogonadotropic hypogonadism in three prepubertal siblings. ( 29777911 )
2018
2
Clinical characteristics of 138 Chinese female patients with idiopathic hypogonadotropic hypogonadism. ( 29018155 )
2017
3
Idiopathic hypogonadotropic hypogonadism reversal after testosterone replacement in a 34-year-old male. ( 28583920 )
2017
4
Update on the Genetics of Idiopathic Hypogonadotropic Hypogonadism. ( 29280744 )
2017
5
CCDC141 Mutations in Idiopathic Hypogonadotropic Hypogonadism. ( 28324054 )
2017
6
Idiopathic Hypogonadotropic Hypogonadism Caused by Inactivating Mutations in SRA1. ( 27086651 )
2016
7
Complete Idiopathic Hypogonadotropic Hypogonadism due to Homozygous GNRH1 Mutations in the Mutational Hot Spots in the Region Encoding the Decapeptide. ( 26595427 )
2016
8
Evaluation of Basal Serum Adrenocorticotropic Hormone and Cortisol Levels and Their Relationship with Nonalcoholic Fatty Liver Disease in Male Patients with Idiopathic Hypogonadotropic Hypogonadism. ( 27174321 )
2016
9
Kisspeptin levels in idiopathic hypogonadotropic hypogonadism diagnosed male patients and its relation with glucose-insulin dynamic. ( 27616469 )
2016
10
Normosmic idiopathic hypogonadotropic hypogonadism due to a novel homozygous nonsense c.C969A (p.Y323X) mutation in the KISS1R gene in three unrelated families. ( 25262569 )
2015
11
Clinical, endocrinological, and molecular characterization of Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: a single center experience. ( 25883924 )
2015
12
Sequential versus Continual Purified Urinary FSH / hCG in Men with Idiopathic Hypogonadotropic Hypogonadism. ( 25825944 )
2015
13
Novel FGFR1 mutations in Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: evidence for the involvement of an alternatively spliced isoform. ( 26277103 )
2015
14
Mutations in KISS1 are not responsible for idiopathic hypogonadotropic hypogonadism in Chinese patients. ( 25783047 )
2015
15
The Effects of Gonadotropin Replacement Therapy on Metabolic Parameters and Body Composition in Men with Idiopathic Hypogonadotropic Hypogonadism. ( 26485362 )
2015
16
Congenital combined pituitary hormone deficiency patients have better responses to gonadotrophin-induced spermatogenesis than idiopathic hypogonadotropic hypogonadism patients. ( 26141714 )
2015
17
Effects of androgen replacement therapy on cornea and tear function in men with idiopathic hypogonadotropic hypogonadism. ( 25812631 )
2015
18
An idiopathic hypogonadotropic hypogonadism patient with metabolic disorder and diabetes: case report. ( 25337838 )
2014
19
Effect of androgen replacement therapy on atherosclerotic risk markers in young-to-middle-aged men with idiopathic hypogonadotropic hypogonadism. ( 25280063 )
2014
20
Clinical pregnancy in a woman with idiopathic hypogonadotropic hypogonadism and low AMH: utility of ovarian reserve markers in IHH. ( 25113621 )
2014
21
Normosmic idiopathic hypogonadotropic hypogonadism: update on the genetic background and future challenges. ( 23640935 )
2013
22
A network investigation on idiopathic hypogonadotropic hypogonadism in china. ( 24385983 )
2013
23
Progression of puberty after initiation of androgen therapy in patients with idiopathic hypogonadotropic hypogonadism. ( 24083166 )
2013
24
[Multiplex ligation dependent probe amplification analysis of KAL1, GNRH1, GNRHR, PROK2 and PROKR2 in male patients with idiopathic hypogonadotropic hypogonadism]. ( 24002956 )
2013
25
An objective olfactory evaluation and its correlation with magnetic resonance imaging findings in Asian Indian patients with idiopathic hypogonadotropic hypogonadism. ( 23512393 )
2013
26
Familial normosmic idiopathic hypogonadotropic hypogonadism: is there a phenotypic marker for each genetic mutation? Report of three cases and review of literature. ( 23230250 )
2012
27
Distribution of gene mutations associated with familial normosmic idiopathic hypogonadotropic hypogonadism. ( 22766261 )
2012
28
Long-term outcome of idiopathic hypogonadotropic hypogonadism. ( 22499222 )
2012
29
Mutations in NR5A1 and PIN1 associated with idiopathic hypogonadotropic hypogonadism. ( 23585175 )
2012
30
Role of basal and provocative serum prolactin in differentiating idiopathic hypogonadotropic hypogonadism and constitutional delayed puberty--a diagnostic dilemma. ( 24397058 )
2012
31
Molecular defects of the GnRH-receptor gene in Chinese patients with idiopathic hypogonadotropic hypogonadism and the severity of hypogonadism. ( 23155690 )
2012
32
Olfactory phenotypic spectrum in idiopathic hypogonadotropic hypogonadism: pathophysiological and genetic implications. ( 22072740 )
2012
33
Mutations in NR5A1 and PIN1 associated with idiopathic hypogonadotropic hypogonadism. ( 23096908 )
2012
34
Impact of long-term gonadotropin replacement treatment on sleep in men with idiopathic hypogonadotropic hypogonadism. ( 21143417 )
2011
35
The role of CHD7 and the newly identified WDR11 gene in patients with idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. ( 21856375 )
2011
36
Effects of substitutive therapy on right ventricular systolic and diastolic functions in patients with idiopathic hypogonadotropic hypogonadism. ( 20820132 )
2011
37
[Mutation of the KAL1 gene in 30 male patients with idiopathic hypogonadotropic hypogonadism]. ( 21351529 )
2011
38
Adult-onset idiopathic hypogonadotropic hypogonadism: possible aetiology, clinical manifestations and management. ( 20531282 )
2010
39
Idiopathic hypogonadotropic hypogonadism in a mother and her monozygotic twins born after a single embryo transfer. ( 20079901 )
2010
40
Congenital idiopathic hypogonadotropic hypogonadism: evidence of defects in the hypothalamus, pituitary, and testes. ( 20382682 )
2010
41
The long-term clinical follow-up and natural history of men with adult-onset idiopathic hypogonadotropic hypogonadism. ( 20591981 )
2010
42
Complex genetics in idiopathic hypogonadotropic hypogonadism. ( 20389092 )
2010
43
Heart rate variability of young men with idiopathic hypogonadotropic hypogonadism. ( 19766543 )
2010
44
WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. ( 20887964 )
2010
45
Molecular analysis of KAL-1 in a series of Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism patients from Northwestern China. ( 19734936 )
2009
46
The genetic and molecular basis of idiopathic hypogonadotropic hypogonadism. ( 19707180 )
2009
47
Prediction of testosterone response to human chorionic gonadotrophin in idiopathic hypogonadotropic hypogonadism patients. ( 19245075 )
2009
48
[A case of adult-onset idiopathic hypogonadotropic hypogonadism presenting with infertility]. ( 19673435 )
2009
49
The genetics of idiopathic hypogonadotropic hypogonadism:unraveling the biology of human sexual development. ( 19396025 )
2009
50
Impaired fibroblast growth factor receptor 1 signaling as a cause of normosmic idiopathic hypogonadotropic hypogonadism. ( 19820032 )
2009

Variations for Hypogonadotropic Hypogonadism 7 with or Without Anosmia

UniProtKB/Swiss-Prot genetic disease variations for Hypogonadotropic Hypogonadism 7 with or Without Anosmia:

75 (show all 14)
# Symbol AA change Variation ID SNP ID
1 GNRHR p.Asn10Lys VAR_019311 rs104893843
2 GNRHR p.Glu90Lys VAR_019312 rs104893844
3 GNRHR p.Gln106Arg VAR_019313 rs104893836
4 GNRHR p.Ala129Asp VAR_019314 rs104893838
5 GNRHR p.Arg139His VAR_019315 rs104893842
6 GNRHR p.Ser168Arg VAR_019316 rs104893840
7 GNRHR p.Ala171Thr VAR_019317 rs74452732
8 GNRHR p.Ser217Arg VAR_019318 rs104893839
9 GNRHR p.Tyr284Cys VAR_019320 rs28933074
10 GNRHR p.Leu83Val VAR_069960
11 GNRHR p.Asn18Ser VAR_072970 rs774317793
12 GNRHR p.Ile37Ser VAR_072971 rs886907903
13 GNRHR p.Glu90Asp VAR_072972
14 GNRHR p.Pro146Ser VAR_072973 rs144900788

ClinVar genetic disease variations for Hypogonadotropic Hypogonadism 7 with or Without Anosmia:

6
(show top 50) (show all 69)
# Gene Variation Type Significance SNP ID Assembly Location
1 GNRHR NM_000406.2(GNRHR): c.317A> G (p.Gln106Arg) single nucleotide variant Pathogenic rs104893836 GRCh37 Chromosome 4, 68619737: 68619737
2 GNRHR NM_000406.2(GNRHR): c.317A> G (p.Gln106Arg) single nucleotide variant Pathogenic rs104893836 GRCh38 Chromosome 4, 67754019: 67754019
3 GNRHR NM_000406.2(GNRHR): c.785G> A (p.Arg262Gln) single nucleotide variant Pathogenic rs104893837 GRCh37 Chromosome 4, 68606400: 68606400
4 GNRHR NM_000406.2(GNRHR): c.785G> A (p.Arg262Gln) single nucleotide variant Pathogenic rs104893837 GRCh38 Chromosome 4, 67740682: 67740682
5 GNRHR NM_000406.2(GNRHR): c.851A> G (p.Tyr284Cys) single nucleotide variant Pathogenic rs28933074 GRCh37 Chromosome 4, 68606334: 68606334
6 GNRHR NM_000406.2(GNRHR): c.851A> G (p.Tyr284Cys) single nucleotide variant Pathogenic rs28933074 GRCh38 Chromosome 4, 67740616: 67740616
7 GNRHR NM_000406.2(GNRHR): c.386C> A (p.Ala129Asp) single nucleotide variant Pathogenic rs104893838 GRCh37 Chromosome 4, 68619668: 68619668
8 GNRHR NM_000406.2(GNRHR): c.386C> A (p.Ala129Asp) single nucleotide variant Pathogenic rs104893838 GRCh38 Chromosome 4, 67753950: 67753950
9 GNRHR NM_000406.2(GNRHR): c.651C> A (p.Ser217Arg) single nucleotide variant Pathogenic rs104893839 GRCh37 Chromosome 4, 68610377: 68610377
10 GNRHR NM_000406.2(GNRHR): c.651C> A (p.Ser217Arg) single nucleotide variant Pathogenic rs104893839 GRCh38 Chromosome 4, 67744659: 67744659
11 GNRHR NM_000406.2(GNRHR): c.504T> A (p.Ser168Arg) single nucleotide variant Pathogenic rs104893840 GRCh37 Chromosome 4, 68619550: 68619550
12 GNRHR NM_000406.2(GNRHR): c.504T> A (p.Ser168Arg) single nucleotide variant Pathogenic rs104893840 GRCh38 Chromosome 4, 67753832: 67753832
13 GNRHR NM_000406.2(GNRHR): c.941T> A (p.Leu314Ter) single nucleotide variant Pathogenic rs104893841 GRCh37 Chromosome 4, 68606244: 68606244
14 GNRHR NM_000406.2(GNRHR): c.941T> A (p.Leu314Ter) single nucleotide variant Pathogenic rs104893841 GRCh38 Chromosome 4, 67740526: 67740526
15 GNRHR NM_000406.2(GNRHR): c.416G> A (p.Arg139His) single nucleotide variant Pathogenic rs104893842 GRCh37 Chromosome 4, 68619638: 68619638
16 GNRHR NM_000406.2(GNRHR): c.416G> A (p.Arg139His) single nucleotide variant Pathogenic rs104893842 GRCh38 Chromosome 4, 67753920: 67753920
17 GNRHR NM_000406.2(GNRHR): c.30T> A (p.Asn10Lys) single nucleotide variant Likely pathogenic rs104893843 GRCh37 Chromosome 4, 68620024: 68620024
18 GNRHR NM_000406.2(GNRHR): c.30T> A (p.Asn10Lys) single nucleotide variant Likely pathogenic rs104893843 GRCh38 Chromosome 4, 67754306: 67754306
19 GNRHR NM_000406.2(GNRHR): c.268G> A (p.Glu90Lys) single nucleotide variant Pathogenic rs104893844 GRCh37 Chromosome 4, 68619786: 68619786
20 GNRHR NM_000406.2(GNRHR): c.268G> A (p.Glu90Lys) single nucleotide variant Pathogenic rs104893844 GRCh38 Chromosome 4, 67754068: 67754068
21 GNRHR NM_000406.2(GNRHR): c.523_742del single nucleotide variant Pathogenic rs797044452 GRCh38 Chromosome 4, 67744788: 67744788
22 GNRHR NM_000406.2(GNRHR): c.523_742del single nucleotide variant Pathogenic rs797044452 GRCh37 Chromosome 4, 68610506: 68610506
23 GNRHR NM_000406.2(GNRHR): c.511G> A (p.Ala171Thr) single nucleotide variant Pathogenic rs74452732 GRCh37 Chromosome 4, 68619543: 68619543
24 GNRHR NM_000406.2(GNRHR): c.511G> A (p.Ala171Thr) single nucleotide variant Pathogenic rs74452732 GRCh38 Chromosome 4, 67753825: 67753825
25 GNRHR NM_000406.2(GNRHR): c.959C> T (p.Pro320Leu) single nucleotide variant Pathogenic rs104893847 GRCh37 Chromosome 4, 68606226: 68606226
26 GNRHR NM_000406.2(GNRHR): c.959C> T (p.Pro320Leu) single nucleotide variant Pathogenic rs104893847 GRCh38 Chromosome 4, 67740508: 67740508
27 FGFR1 NM_023110.2(FGFR1): c.1864C> T (p.Arg622Ter) single nucleotide variant Likely pathogenic rs121909628 GRCh37 Chromosome 8, 38272410: 38272410
28 FGFR1 NM_023110.2(FGFR1): c.1864C> T (p.Arg622Ter) single nucleotide variant Likely pathogenic rs121909628 GRCh38 Chromosome 8, 38414892: 38414892
29 FGFR1 NM_023110.2(FGFR1): c.1097C> T (p.Pro366Leu) single nucleotide variant Likely pathogenic rs121909641 GRCh37 Chromosome 8, 38277238: 38277238
30 FGFR1 NM_023110.2(FGFR1): c.1097C> T (p.Pro366Leu) single nucleotide variant Likely pathogenic rs121909641 GRCh38 Chromosome 8, 38419720: 38419720
31 GNRHR NM_001012763.1(GNRHR): c.30_31delTCinsAA (p.Asn10_Gln11delinsLysLys) indel Likely pathogenic rs281865427 GRCh37 Chromosome 4, 68620023: 68620024
32 GNRHR NM_001012763.1(GNRHR): c.30_31delTCinsAA (p.Asn10_Gln11delinsLysLys) indel Likely pathogenic rs281865427 GRCh38 Chromosome 4, 67754305: 67754306
33 GNRHR NM_000406.2(GNRHR): c.842C> T (p.Thr281Ile) single nucleotide variant Pathogenic rs515726220 GRCh38 Chromosome 4, 67740625: 67740625
34 GNRHR NM_000406.2(GNRHR): c.842C> T (p.Thr281Ile) single nucleotide variant Pathogenic rs515726220 GRCh37 Chromosome 4, 68606343: 68606343
35 GNRHR NM_000406.2(GNRHR): c.94A> G (p.Thr32Ala) single nucleotide variant Pathogenic rs515726219 GRCh37 Chromosome 4, 68619960: 68619960
36 GNRHR NM_000406.2(GNRHR): c.94A> G (p.Thr32Ala) single nucleotide variant Pathogenic rs515726219 GRCh38 Chromosome 4, 67754242: 67754242
37 GNRHR NM_000406.2(GNRHR): c.392T> C (p.Met131Thr) single nucleotide variant Pathogenic rs606231406 GRCh38 Chromosome 4, 67753944: 67753944
38 GNRHR NM_000406.2(GNRHR): c.392T> C (p.Met131Thr) single nucleotide variant Pathogenic rs606231406 GRCh37 Chromosome 4, 68619662: 68619662
39 GNRHR NM_000406.2(GNRHR): c.806C> T (p.Thr269Met) single nucleotide variant Pathogenic rs369176613 GRCh38 Chromosome 4, 67740661: 67740661
40 GNRHR NM_000406.2(GNRHR): c.806C> T (p.Thr269Met) single nucleotide variant Pathogenic rs369176613 GRCh37 Chromosome 4, 68606379: 68606379
41 HS6ST1 NM_004807.2(HS6ST1): c.1144C> T (p.Arg382Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs199538589 GRCh37 Chromosome 2, 129025828: 129025828
42 HS6ST1 NM_004807.2(HS6ST1): c.1144C> T (p.Arg382Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs199538589 GRCh38 Chromosome 2, 128268254: 128268254
43 TACR3 NM_001059.2(TACR3): c.623G> A (p.Trp208Ter) single nucleotide variant Likely pathogenic rs727505375 GRCh37 Chromosome 4, 104579486: 104579486
44 TACR3 NM_001059.2(TACR3): c.623G> A (p.Trp208Ter) single nucleotide variant Likely pathogenic rs727505375 GRCh38 Chromosome 4, 103658329: 103658329
45 FGFR1 NM_023110.2(FGFR1): c.2209T> C (p.Trp737Arg) single nucleotide variant Likely pathogenic rs727505377 GRCh38 Chromosome 8, 38414001: 38414001
46 FGFR1 NM_023110.2(FGFR1): c.2209T> C (p.Trp737Arg) single nucleotide variant Likely pathogenic rs727505377 GRCh37 Chromosome 8, 38271519: 38271519
47 FGFR1 NM_023110.2(FGFR1): c.2059G> A (p.Gly687Arg) single nucleotide variant Likely pathogenic rs727505376 GRCh38 Chromosome 8, 38414279: 38414279
48 FGFR1 NM_023110.2(FGFR1): c.2059G> A (p.Gly687Arg) single nucleotide variant Likely pathogenic rs727505376 GRCh37 Chromosome 8, 38271797: 38271797
49 FGFR1 NM_023110.2(FGFR1): c.1916T> C (p.Ile639Thr) single nucleotide variant Likely pathogenic rs727505370 GRCh37 Chromosome 8, 38272358: 38272358
50 FGFR1 NM_023110.2(FGFR1): c.1916T> C (p.Ile639Thr) single nucleotide variant Likely pathogenic rs727505370 GRCh38 Chromosome 8, 38414840: 38414840

Expression for Hypogonadotropic Hypogonadism 7 with or Without Anosmia

Search GEO for disease gene expression data for Hypogonadotropic Hypogonadism 7 with or Without Anosmia.

Pathways for Hypogonadotropic Hypogonadism 7 with or Without Anosmia

Pathways related to Hypogonadotropic Hypogonadism 7 with or Without Anosmia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 9.74 GNRH1 GNRHR

GO Terms for Hypogonadotropic Hypogonadism 7 with or Without Anosmia

Biological processes related to Hypogonadotropic Hypogonadism 7 with or Without Anosmia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 9.65 AXL DUSP6 FEZF1 SEMA3E SRA1
2 multicellular organism development GO:0007275 9.23 AXL FEZF1 FGF17 FLRT3 GNRH1 GNRHR
3 negative chemotaxis GO:0050919 9.16 FLRT3 SEMA3E
4 ovulation cycle GO:0042698 8.96 AXL GNRH1

Molecular functions related to Hypogonadotropic Hypogonadism 7 with or Without Anosmia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 fibroblast growth factor receptor binding GO:0005104 8.96 FGF17 FLRT3
2 chemorepellent activity GO:0045499 8.62 FLRT3 SEMA3E

Sources for Hypogonadotropic Hypogonadism 7 with or Without Anosmia

3 CDC
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17 ExPASy
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