HH7
MCID: HYP535
MIFTS: 59

Hypogonadotropic Hypogonadism 7 with or Without Anosmia (HH7)

Categories: Endocrine diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Reproductive diseases, Smell/Taste 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 56 12 73 29 13 6
Idiopathic Hypogonadotropic Hypogonadism 56 73 71
Hypogonadism, Isolated, Hypogonadotropic 74 52
Hypogonadism, Isolated Hypogonadotropic 56 71
Hypogonadotropic Hypogonadism 73 71
Hh7 56 73
Ihh 56 73
Hh 73 17
Congenital Hypogonadotropic Hypogonadism Normosmic 73
Hypogonadotropic Hypogonadism 7 Without Anosmia 56
Idiopathic Hypogonadotropic Hypogonadism; Ihh 56
Isolated Hypogonadotropic Hypogonadism 73
Isolated Gonadotropin Deficiency 71
Klinefelter Syndrome 71

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
hypogonadotropic hypogonadism 7 with or without anosmia:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0090078
OMIM 56 146110
OMIM Phenotypic Series 56 PS147950
MeSH 43 D007006
ICD10 32 E23.0 Q98.4
MedGen 41 C0342384
UMLS 71 C0022735 C0271577 C0271623 more

Summaries for Hypogonadotropic Hypogonadism 7 with or Without Anosmia

OMIM : 56 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 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism and boucher-neuhauser syndrome. An important gene associated with Hypogonadotropic Hypogonadism 7 with or Without Anosmia is GNRHR (Gonadotropin Releasing Hormone Receptor), and among its related pathways/superpathways are Negative regulation of FGFR3 signaling and Signaling by FGFR2. The drugs Zinc and Testosterone enanthate have been mentioned in the context of this disorder. Affiliated tissues include pituitary, testes and ovary, and related phenotypes are infertility and cryptorchidism

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.

UniProtKB/Swiss-Prot : 73 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).

Wikipedia : 74 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 in the Hypogonadotropic Hypogonadism 7 with or Without Anosmia family:

Hypogonadotropic Hypogonadism 2 with or Without Anosmia Hypogonadotropic Hypogonadism 23 Without Anosmia
Hypogonadotropic Hypogonadism 24 Without Anosmia Hypogonadotropic Hypogonadism 3 with or Without Anosmia
Hypogonadotropic Hypogonadism 1 with or Without Anosmia Hypogonadotropic Hypogonadism 4 with or Without Anosmia
Hypogonadotropic Hypogonadism 5 with or Without Anosmia Hypogonadotropic Hypogonadism 6 with or Without Anosmia
Hypogonadotropic Hypogonadism 8 with or Without Anosmia Hypogonadotropic Hypogonadism 9 with or Without Anosmia
Hypogonadotropic Hypogonadism 10 with or Without Anosmia Hypogonadotropic Hypogonadism 11 with or Without Anosmia
Hypogonadotropic Hypogonadism 12 with or Without Anosmia Hypogonadotropic Hypogonadism 13 with or Without Anosmia
Hypogonadotropic Hypogonadism 14 with or Without Anosmia Hypogonadotropic Hypogonadism 15 with or Without Anosmia
Hypogonadotropic Hypogonadism 16 with or Without Anosmia Hypogonadotropic Hypogonadism 17 with or Without Anosmia
Hypogonadotropic Hypogonadism 18 with or Without Anosmia Hypogonadotropic Hypogonadism 19 with or Without Anosmia
Hypogonadotropic Hypogonadism 20 with or Without Anosmia Hypogonadotropic Hypogonadism 21 with or Without Anosmia
Hypogonadotropic Hypogonadism 22 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 497)
# Related Disease Score Top Affiliating Genes
1 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism 34.6 POLR3B PNPLA6
2 boucher-neuhauser syndrome 34.1 POLR3B PNPLA6
3 hypothalamic hamartomas 32.2 GNRHR GNRH1
4 hypogonadotropic hypogonadism 23 without anosmia 32.2 PROKR2 GNRHR GNRH1 FGFR1 ANOS1
5 orofacial cleft 31.2 PROKR2 GNRH1 FGFR1 ANOS1
6 choanal atresia, posterior 30.3 PROKR2 FGFR1 ANOS1
7 congenital hypogonadotropic hypogonadism 30.2 GNRHR FGFR1 DUSP6 ANOS1
8 normosmic congenital hypogonadotropic hypogonadism 30.1 WDR11 SPRY4 PROKR2 HS6ST1 GNRHR GNRH1
9 pseudovaginal perineoscrotal hypospadias 30.1 GNRH1 BBIP1
10 pituitary stalk interruption syndrome 30.0 WDR11 PROKR2
11 renal hypodysplasia/aplasia 1 29.6 PROKR2 HS6ST1 GNRH1 FGFR1 ANOS1
12 cryptorchidism, unilateral or bilateral 29.6 SPRY4 PROKR2 HS6ST1 GNRHR GNRH1 FGFR1
13 septooptic dysplasia 29.6 PROKR2 GNRHR GNRH1 FGFR1 ANOS1
14 coloboma of macula 29.5 SEMA3E PROKR2 GNRHR GNRH1 FGFR1 ANOS1
15 charge syndrome 29.2 SEMA3E PROKR2 HS6ST1 GNRHR GNRH1 FGFR1
16 hypogonadism 26.0 WDR11 SPRY4 PROKR2 POLR3B PNPLA6 IL17RD
17 hypogonadotropic hypogonadism 25.8 WDR11 SPRY4 PROKR2 POLR3B PNPLA6 IL17RD
18 kallmann syndrome 25.7 WDR11 SPRY4 SEMA3E PROKR2 IL17RD HS6ST1
19 leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism 12.9
20 hypogonadotropic hypogonadism 24 without anosmia 12.7
21 hypogonadotropic hypogonadism 25 with anosmia 12.7
22 multicore myopathy with mental retardation, short stature, and hypogonadotropic hypogonadism 12.6
23 isolated congenital hypogonadotropic hypogonadism 12.5
24 gordon holmes syndrome 12.5
25 bosma arhinia microphthalmia syndrome 12.4
26 hypogonadotropic hypogonadism-retinitis pigmentosa syndrome 12.4
27 hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome 12.4
28 rare female infertility due to a congenital hypogonadotropic hypogonadism 12.4
29 polr3-related leukodystrophy 12.4
30 rare disorder with hypogonadotropic hypogonadism 12.3
31 hypogonadotropic hypogonadism associated with other endocrinopathies 12.3
32 hypogonadotropic hypogonadism-frontoparietal alopecia syndrome 12.3
33 moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome 12.3
34 brachydactyly, type a1 12.2
35 acrocapitofemoral dysplasia 12.1
36 hypogonadotropic hypogonadism 9 with or without anosmia 11.9
37 leptin deficiency or dysfunction 11.9
38 hemochromatosis, type 1 11.8
39 dyskeratosis congenita, x-linked 11.8
40 martsolf syndrome 11.8
41 brachydactyly 11.7
42 heart-hand syndrome, slovenian type 11.7
43 prader-willi syndrome 11.6
44 hartsfield syndrome 11.6
45 johnson neuroectodermal syndrome 11.6
46 hypogonadotropic hypogonadism 2 with or without anosmia 11.6
47 hypogonadotropic hypogonadism 3 with or without anosmia 11.6
48 hypogonadotropic hypogonadism 1 with or without anosmia 11.6
49 hypogonadotropic hypogonadism 4 with or without anosmia 11.6
50 hypogonadotropic hypogonadism 5 with or without anosmia 11.6

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

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

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 infertility 31 occasional (7.5%) HP:0000789
2 cryptorchidism 31 HP:0000028
3 primary amenorrhea 31 HP:0000786
4 micropenis 31 HP:0000054
5 gynecomastia 31 HP:0000771
6 decreased testicular size 31 HP:0008734
7 sparse axillary hair 31 HP:0002215
8 sparse pubic hair 31 HP:0002225
9 hypogonadotropic hypogonadism 31 HP:0000044

Symptoms via clinical synopsis from OMIM:

56
Genitourinary Internal Genitalia Male:
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

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.21 BBIP1 CCDC141 DUSP6 FEZF1 FGFR1 FLRT3
2 cellular MP:0005384 10.14 AXL CCDC141 DUSP6 FEZF1 FGFR1 FLRT3
3 mortality/aging MP:0010768 10.07 AXL BBIP1 CCDC141 DUSP6 FEZF1 FGFR1
4 nervous system MP:0003631 10.03 AXL BBIP1 CCDC141 FEZF1 FGF17 FGFR1
5 integument MP:0010771 9.92 AXL CCDC141 FGFR1 GNRH1 GNRHR PNPLA6
6 reproductive system MP:0005389 9.61 AXL BBIP1 CCDC141 FGFR1 GNRH1 GNRHR
7 vision/eye MP:0005391 9.23 AXL BBIP1 FGFR1 HS6ST1 SEMA3E SPRY4

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 top 50) (show all 117)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Zinc Approved, Investigational Phase 4 7440-66-6 32051
2
Testosterone enanthate Approved Phase 4 315-37-7 9416
3
Testosterone undecanoate Approved, Investigational Phase 4 5949-44-0
4
Methyltestosterone Approved Phase 4 58-18-4 6010
5
Anastrozole Approved, Investigational Phase 4 120511-73-1 2187
6
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
7
Polyestradiol phosphate Approved Phase 4 28014-46-2
8
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
9
N,N-dimethylarginine Experimental Phase 4 30315-93-6 123831
10 Insulin, Globin Zinc Phase 4
11 insulin Phase 4
12 Vitamins Phase 4
13 Mitogens Phase 4
14 Calciferol Phase 4
15 Testosterone 17 beta-cypionate Phase 4
16 Anabolic Agents Phase 4
17 Antineoplastic Agents, Hormonal Phase 4
18 Estrogen Antagonists Phase 4
19 Estrogen Receptor Antagonists Phase 4
20 Estrogens Phase 4
21 Aromatase Inhibitors Phase 4
22 Pharmaceutical Solutions Phase 4
23 Hormones Phase 4
24 Hormone Antagonists Phase 4
25 Chorionic Gonadotropin Phase 4
26 Follicle Stimulating Hormone Phase 4
27 Estradiol 17 beta-cypionate Phase 4
28 Estradiol 3-benzoate Phase 4
29
Testosterone Approved, Experimental, Investigational Phase 2, Phase 3 58-22-0, 481-30-1 10204 6013
30
Atorvastatin Approved Phase 3 134523-00-5 60823
31
Castor oil Approved, Investigational, Nutraceutical, Vet_approved Phase 2, Phase 3 8001-79-4
32 Androgens Phase 2, Phase 3
33 Gastrointestinal Agents Phase 2, Phase 3
34 Cathartics Phase 2, Phase 3
35 Castor Phase 2, Phase 3
36 Laxatives Phase 2, Phase 3
37 Gonadotropins, Pituitary Phase 3
38 carnitine Phase 3
39 Hypolipidemic Agents Phase 3
40 Lipid Regulating Agents Phase 3
41 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 3
42 Anticholesteremic Agents Phase 3
43 Antimetabolites Phase 3
44
Oxandrolone Approved, Investigational Phase 2 53-39-4 5878
45
Isotretinoin Approved Phase 2 4759-48-2 5282379 5538
46
Menotropins Approved Phase 2 61489-71-2, 9002-68-0 5360545
47
Sodium citrate Approved, Investigational Phase 2 68-04-2
48
Tretinoin Approved, Investigational, Nutraceutical Phase 2 302-79-4 444795 5538
49
Calcitriol Approved, Nutraceutical Phase 2 32222-06-3 5280453 134070
50
Citric acid Approved, Nutraceutical, Vet_approved Phase 2 77-92-9 311

Interventional clinical trials:

(show top 50) (show all 111)
# Name Status NCT ID Phase Drugs
1 Study on the 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 Human Menopausal Gonadotropin Combining With Human Chorionic Gonadotropin is Superior to Human Chorionic Gonadotropin in Therapeutic Efficacy in Adolescent Boys With Congenital Hypogonadotropic Hypogonadism Unknown status NCT02880280 Phase 4 Human Menopausal Gonadotropin;Human Chorionic Gonadotropin
3 Comparison of Assisted Reproductive Technology (ART) Outcomes Between Two Protocols of Induction of Ovulation by Using Recombinant Luteinizing Hormone (rLH) and Recombinant Follicle Stimulating Hormone (rFSH) in Patients With Hypogonadotropic Hypogonadism Unknown status NCT02140515 Phase 4 Lutropin alfa;Follitropin alfa and Lutropin alfa
4 Effects of Three Different Medications on Metabolic Parameters and Testicular Volume in Patients With Hypogonadotropic Hypogonadism-Last Three Years Experience Completed NCT01601327 Phase 4 Testosterone enanthate (Sustanon 250 mg);Human chorionic gonadotropin (hCG) (Pregnyl 5000 IU);Testosteron gel (Testojel 50 mg)
5 Body Composition in Infants With Klinefelter Syndrome and Effects of Testosterone Treatment Completed NCT02408445 Phase 4 testosterone cypionate 200mg/ml
6 Efficacy and Safety of Human Chorionic Gonadotropin (HCG) and Follicle Stimulating Hormone (FSH) in the Treatment of Hypogonadotropic Hypogonadism Completed NCT01403532 Phase 4 Traditional intervention for HH using HCG and FSH;Sequential intervention for HH using HCG and FSH;Sequential intervention for HH using HCG and FSH plus zinc
7 Phase 4 Study That Evaluates the Presence of Endothelial Dysfunction, Inflammation and Insulin Resistance in Male Subjects With Hypogonadotrophic Hypogonadism and Effects of Two Different Testosterone Replacement Regiments on These Parameters. Completed NCT02171390 Phase 4 Testosterone 250mg injection;Testosteron 50 mg transdermal gel
8 Phase 4 Study of Effect of Testosteron Replacement Treatment on the Fibroblast Growth Factor-23, Asymmetric Dimethylarginine and Vitamin D Levels in the Congenital Hypogonadotropic Hypogonadism Completed NCT02111473 Phase 4 Testosterone
9 Phase 4 Study of Effect of Testosteron Treatment on the Visceral Adiposity Index and Triglyceride/High-density Lipoprotein Cholesterol Ratio in the Congenital Hypogonadotropic Hypogonadism Completed NCT02111434 Phase 4 Testosterone
10 Aromatase Inhibitors and Weight Loss in Severely Obese Hypogonadal Male Veterans (Pilot) Completed NCT02959853 Phase 4 Anastrazole
11 To Define the Individual Need of Exogenous LH During Ovarian Stimulation for Severe LH Suppressed Patients After Administration of a GnRH Antagonist Completed NCT01936077 Phase 4 Recombinant LH (Luveris)
12 Effect of Hypogonadotrophic Hypogonadism and Treatment With Testosterone on Insulin Sensitivity, Inflammation, Body Composition and Sexual Function in Obese and Type 2 Diabetic Men Completed NCT01127659 Phase 4 testosterone;placebo
13 Efficacy and Safety of Long Term Use of hCG or hCG Plus hMG in the Treatment of Male Patients With Isolated Hypogonadotropic Hypogonadism: an Open, Randomized Controlled Study Recruiting NCT03687606 Phase 4 Human Chorionic Gonadotropin;human menopausal gonadotropin
14 TESTO: Testosterone Effects on Short-Term Outcomes in Infants With XXY Recruiting NCT03325647 Phase 4 Testosterone Cypionate 200 Milligram/Milliliter Injectable Solution;Placebo injectable saline
15 Aromatase Inhibitors and Weight Loss in Severely Obese Men With Hypogonadism Recruiting NCT03490513 Phase 4 anastrozole (1 mg/day);Placebo
16 A Phase IV, Multicenter, Randomized, Double-blinded, Clinical Trial to Confirm the Efficacy of the 75 IU Dose of Luveris® vs. Placebo When Administered With Follitropin Alfa for Induction of Follicular Development and Pregnancy in Hypogonadotropic Hypogonadal Women With Profound LH Deficiency, as Defined by a Baseline LH Level <1.2 IU/L Terminated NCT00328926 Phase 4 Luveris® 75 IU;Luveris® 25 IU;Placebo;Recombinant human follicle stimulating hormone (r-hFSH);Recombinant human chorionic gonadotropin (r-hCG)
17 A Multicenter, Double-Blind, Randomized, Placebo-Controlled Study Evaluating Three Doses of Subcutaneous Pulsatile GnRH Administered Via OmniPod Pump for Ovulation Induction in Female Subjects With Primary Amenorrhea With Hypogonadotropic Hypogonadism Completed NCT01976728 Phase 3 Gonadorelin acetate subcutaneous (SC) 10 μg/pulse as a fixed dose, administered via. OmniPod pump;Gonadorelin acetate SC 15 μg/pulse as a fixed dose, administered via. OmniPod pump;Gonadorelin acetate SC 20 μg/pulse as a fixed dose, administered via. OmniPod pump;Placebo (SC 10, 15, or 20 μg/pulse as a fixed dose, administered via. OmniPod pump)
18 A Randomized, Double Blind, Placebo-Controlled, Multi-Center Phase III Study in Men With Acquired Hypogonadotropic Hypogonadism to Compare Changes in Testosterone and Sperm Concentration Following Treatment With 12.5 mg or 25 mg Androxal or AndroGel 1.62% Completed NCT01993225 Phase 3 Androxal 12.5 mg/25 mg;Placebo Capsules;AndroGel 1.62%;Placebo Gel
19 A Randomized, Double Blind, Placebo-Controlled, Multi-Center Phase III Study in Men With Acquired Hypogonadotropic Hypogonadism to Compare Changes in Testosterone and Sperm Concentration Following Treatment With 12.5 mg or 25 mg Androxal or AndroGel 1.62% Completed NCT01993212 Phase 3 Androxal 12.5 mg or 25 mg;AndroGel 1.62%;Placebo Capsules;Placebo Gel
20 Clinical Trial on Application of Injectable Recombinant Human Luteinizing Hormone (Luveris®) in the Treatment of Chinese Female Patients With Hypogonadotropic Hypogonadism: A Multi-center, Open, Prospective Drug Clinical Trial for Registration Completed NCT01084265 Phase 3 Recombinant human luteinizing hormone (r-hLH);Recombinant human follicle-stimulating hormone (r-hFSH);Human chorionic gonadotropin (hCG)
21 A Phase III, Multi-Center, Open Label, Single-Group Trial to Investigate the Efficacy and Safety of MK-8962 (Corifollitropin Alfa) in Combination With Human Chorionic Gonadotropin (hCG) for Initiation or Restoration of Puberty as Assessed by Increased Testicular Volume in Adolescent Males 14 to <18 Years Old With Hypogonadotropic Hypogonadism (Phase III; Protocol No. MK-8962-043-00) Completed NCT03019575 Phase 3 Corifollitropin alfa;hCG
22 A Randomized, Double Blind, Placebo Controlled Multi-Center Phase III Study to Evaluate Normalization of Morning Testosterone Levels in Overweight Men With Acquired Hypogonadotropic Hypogonadism and Normal Sperm Concentration Completed NCT01739595 Phase 3 enclomiphene citrate;Placebo
23 A Randomized, Double Blind, Placebo Controlled Multi-Center Phase III Study to Evaluate Normalization of Morning Testosterone Levels in Overweight Men With Acquired Hypogonadotropic Hypogonadism and Normal Sperm Concentration Completed NCT01532414 Phase 3 Androxal;Placebo
24 A Phase III, Multi-center, Open Label, Uncontrolled Trial to Investigate the Efficacy and Safety of MK-8962 (Corifollitropin Alfa) in Combination With Human Chorionic Gonadotropin (hCG) in Inducing Increased Testicular Volume and Spermatogenesis in Adult Men With Hypogonadotropic Hypogonadism Who Remain Azoospermic When Treated With hCG Alone (Phase III; Protocol No. MK-8962-031-00 [Also Known as SCH 900962, P07937]) Completed NCT01709331 Phase 3 Corifollitropin alfa;hCG
25 Androgen Treatment in Leydig Cell Proliferation Completed NCT01206270 Phase 2, Phase 3 Testosterone undecanoate;Castor Oil
26 Parallel-Group Comparative Study of SJ-0021 and Purified Pituitary Gonadotropin in Subjects With Amenorrhea I or Anovulatory Cycles - Phase III Single-Blind Study Completed NCT01185782 Phase 3 Gonalef® (Follitropin alfa);Purified pituitary gonadotropin (Fertinorm-P®)
27 Estudio clínico Fase III Para Evaluar la Eficacia terapéutica en Pacientes Mexicanos Con Dislipidemia Mediante el Uso vía Oral de L-Carnitina + Atorvastatina Comparado Con Atorvastatina Active, not recruiting NCT03696940 Phase 3 L-Carnitine 500Mg Oral Tablet + Atorvastatin 10 mg;Atorvastatin 10mg
28 A Comparison of Clomiphene Citrate Responses in Men With Hypothalamic Hypogonadism naïve to, and Previously Treated With, Testosterone Unknown status NCT01904734 Phase 2 Clomiphene
29 Testicular Injection of Autologous Human Bone Marrow Derived Stem Cells for Treatment of Patients With Azoospermia Unknown status NCT02041910 Phase 1, Phase 2
30 A Study to Evaluate the Efficacy of Androxal® in Improving Glycemic Control in Men With Secondary Hypogonadism or Adult-onset Idiopathic Hypogonadotropic Hypogonadism (AIHH) and Type 2 Diabetes Mellitus With Sub-Optimum Treatment Completed NCT01191320 Phase 2 Placebo;Androxal
31 Recovery of Gonadal Function by Clomiphene in Males With Prolactinomas and Persistent Hypogonadism Completed NCT00697814 Phase 2 Clomiphene citrate
32 A 6 Month, Double-blind Safety Extension Study of MBGS205 Completed NCT02908074 Phase 2 BGS649
33 A Phase IIb Multicentre, Double-Blind, Dose-Ranging, Randomised, Placebo-Controlled Study Evaluating Safety and Efficacy of BGS649 in Male Obese Subjects With Hypogonadotropic Hypogonadism Completed NCT02730169 Phase 2 BGS649;Placebo
34 A Randomized, Double Blind, Placebo-Controlled, Multi-Center Study in Men With Acquired Hypogonadotropic Hypogonadism to Compare Changes in Body Composition and Metabolic Parameters With Diet and Exercise in Conjunction With Treatment With 12.5 mg or 25 mg Enclomiphene Completed NCT02651688 Phase 2 Placebo;Enclomiphene
35 Androgen Effect on Motor/Cognitive Outcome in Klinefelter Syndrome Completed NCT00348946 Phase 2 androgen oxandrolone
36 Effect of Intranasal Insulin on LH Concentrations in Man Completed NCT02154477 Phase 1, Phase 2 intranasal insulin;placebo (intranasal saline)
37 Clomiphene Citrate for the Treatment of Opioid-Induced Androgen Deficiency: Randomized Controlled Clinical Trial Completed NCT01880086 Phase 2 Clomiphene citrate;Placebo
38 A Pilot Trial of 13-cis Retinoic Acid (Isotretinoin) for the Treatment of Men With Oligoasthenoteratozoospermia Completed NCT02061384 Phase 2 13-cis retinoic acid;Calcitriol
39 Pulsatile GnRH in Anovulatory Infertility Recruiting NCT00383656 Phase 2 GnRH
40 Hypogonadotropic Hypogonadism in Obese Young Males Recruiting NCT03245827 Phase 2 Clomiphene;Placebo
41 Intra-Testicular Transplantation of Purified Autologous Clusters of Differentiation (CD) 34+,133+, and Mesenchymal Stem Cells for Treatment of Non-Obstructive Azoospermia Male Infertility. Recruiting NCT02641769 Phase 1, Phase 2
42 Pharmacodynamics and Safety of Human Recombinant Luteinising Hormone in Hypogonadotropic Hypogonadal Men Not yet recruiting NCT04189133 Phase 2 Lutropin alfa;Human chorionic gonadotropin
43 Role of FSH in Human Gonadal Development Terminated NCT00064987 Phase 2 gonadotropin releasing hormone (GnRH);follicle stimulating hormone (FSH)
44 An Open-Label, Phase 2a Study to Evaluate the Pharmacodynamics of Different Dosing Regimens of TAK-448, a Kisspeptin Agonist, in Male Overweight/Obese Participants With Hypogonadotropic Hypogonadism Terminated NCT02369796 Phase 2 TAK-448
45 An Open-label Dose Finding Study Followed by a Parallel Group, Randomized, Double-blind Study to Evaluate the Safety, Tolerability and Pharmacodynamics of 12 Week BGS649 Treatment in Obese, Hypogonadotropic Hypogonadal Men Terminated NCT01200862 Phase 2 Investigational new drug company code: BGS649;Placebo
46 Effect of Hypogonadotropic Hypogonadism and Replacement With Clomiphene Citrate and Testosterone on Insulin Sensitivity, Body Composition, Inflammation, Sexual Function and Spermatogenesis in Young Type 2 Diabetic Men Terminated NCT01155518 Phase 2 testosterone;clomiphene;placebo;placebo
47 Kisspeptin Administration in the Adult Recruiting NCT00914823 Phase 1 kisspeptin 112-121;GnRH
48 Neuropeptides in Human Reproduction Recruiting NCT01952782 Phase 1 Kisspeptin 112-121;Naloxone;Gonadotropin Releasing Hormone (GnRH)
49 Elucidating Kisspeptin Physiology by Blocking Kisspeptin Signaling Recruiting NCT01438073 Phase 1 kisspeptin 112-121;GnRH
50 Effect of Varying Testosterone Levels on Insulin Sensitivity in Men With Idiopathic Hypogonadotropic Hypogonadism Terminated NCT03118479 Phase 1 Anastrozole Pill;Testosterone;Placebo Oral Tablet

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:

40
Pituitary, Testes, Ovary, Olfactory Bulb, Bone, Liver, Whole Blood

Publications for Hypogonadotropic Hypogonadism 7 with or Without Anosmia

Articles related to Hypogonadotropic Hypogonadism 7 with or Without Anosmia:

(show top 50) (show all 365)
# Title Authors PMID Year
1
Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism. 6 56 61
17235395 2007
2
GNRHR mutations in a woman with idiopathic hypogonadotropic hypogonadism highlight the differential sensitivity of luteinizing hormone and follicle-stimulating hormone to gonadotropin-releasing hormone. 56 6 61
15240592 2004
3
Novel homozygous splice acceptor site GnRH receptor (GnRHR) mutation: human GnRHR "knockout". 61 56 6
12050282 2002
4
The fertile eunuch variant of idiopathic hypogonadotropic hypogonadism: spontaneous reversal associated with a homozygous mutation in the gonadotropin-releasing hormone receptor. 6 56 61
11397842 2001
5
A new compound heterozygous mutation of the gonadotropin-releasing hormone receptor (L314X, Q106R) in a woman with complete hypogonadotropic hypogonadism: chronic estrogen administration amplifies the gonadotropin defect. 56 6 61
10999776 2000
6
The same molecular defects of the gonadotropin-releasing hormone receptor determine a variable degree of hypogonadism in affected kindred. 6 56 61
10022417 1999
7
A homozygous R262Q mutation in the gonadotropin-releasing hormone receptor presenting as constitutional delay of growth and puberty with subsequent borderline oligospermia. 56 6
16968799 2006
8
Two novel mutations in the gonadotropin-releasing hormone receptor gene in Brazilian patients with hypogonadotropic hypogonadism and normal olfaction. 6 56
11397871 2001
9
Successful use of pulsatile gonadotropin-releasing hormone (GnRH) for ovulation induction and pregnancy in a patient with GnRH receptor mutations. 56 6
10690855 2000
10
Complete hypogonadotropic hypogonadism associated with a novel inactivating mutation of the gonadotropin-releasing hormone receptor. 6 56
10523035 1999
11
Resistance of hypogonadic patients with mutated GnRH receptor genes to pulsatile GnRH administration. 6 56
10084584 1999
12
Mutations in gonadotropin-releasing hormone receptor gene cause hypogonadotropic hypogonadism. 6 56
9425890 1998
13
A family with hypogonadotropic hypogonadism and mutations in the gonadotropin-releasing hormone receptor. 6 56
9371856 1997
14
A genetic basis for functional hypothalamic amenorrhea. 56 61
21247312 2011
15
Reversal of idiopathic hypogonadotropic hypogonadism. 56 61
17761590 2007
16
The prevalence of gonadotropin-releasing hormone receptor mutations in a large cohort of patients with hypogonadotropic hypogonadism. 56 61
16213849 2005
17
Prevalence, phenotypic spectrum, and modes of inheritance of gonadotropin-releasing hormone receptor mutations in idiopathic hypogonadotropic hypogonadism. 56 61
11297587 2001
18
Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency 6
20301509 2007
19
Mutation Ala(171)Thr stabilizes the gonadotropin-releasing hormone receptor in its inactive conformation, causing familial hypogonadotropic hypogonadism. 6
12679486 2003
20
Rescue of hypogonadotropic hypogonadism-causing and manufactured GnRH receptor mutants by a specific protein-folding template: misrouted proteins as a novel disease etiology and therapeutic target. 56
12107234 2002
21
Molecular basis of hypogonadotropic hypogonadism: restoration of mutant (E(90)K) GnRH receptor function by a deletion at a distant site. 6
11994356 2002
22
A novel homozygous mutation in the second transmembrane domain of the gonadotrophin releasing hormone receptor gene. 6
11318785 2001
23
Mutations of the GnRH receptor gene: a new cause of autosomal-recessive hypogonadotropic hypogonadism. 56
10714361 1999
24
The wonderful and masterful G protein-coupled receptor (GPCR): A focus on signaling mechanisms and the neuroendocrine control of fertility. 61
32574585 2020
25
Hypogonadotropic hypogonadism due to variants in RAB3GAP2: expanding the phenotypic and genotypic spectrum of Martsolf syndrome. 61
32376645 2020
26
Functional Characteristics of Novel FGFR1 Mutations in Patients with Isolated Gonadotropin-Releasing Hormone Deficiency. 61
32485746 2020
27
Integrative analysis of genomic and epigenetic regulation of endometrial cancer. 61
32412912 2020
28
Phenotypic Spectrum of Idiopathic Hypogonadotropic Hypogonadism Patients With CHD7 Variants From a Large Chinese Cohort. 61
31689711 2020
29
Identification of KISS1R gene mutations in disorders of non-obstructive azoospermia in the northeast population of China. 61
31821609 2020
30
Normosmic idiopathic hypogonadotropic hypogonadism due to a novel GNRH1 variant in two siblings. 61
32134721 2020
31
A novel splice site variant in ANOS1 gene leads to Kallmann syndrome in three siblings. 61
31669640 2020
32
Genotypic and phenotypic spectra of FGFR1, FGF8, and FGF17 mutations in a Chinese cohort with idiopathic hypogonadotropic hypogonadism. 61
31748124 2020
33
Three Siblings with Idiopathic Hypogonadotropic Hypogonadism in a Nonconsanguineous Family: A Novel KISS1R/GPR54 Loss-of-Function Mutation 61
30905142 2019
34
A review of hypogonadotropic hypogonadism cases followed up in our clinic in the last decade. 61
31622170 2019
35
Understanding the functions of kisspeptin and kisspeptin receptor (Kiss1R) from clinical case studies. 61
30339828 2019
36
Thyroid function in Klinefelter syndrome: a multicentre study from KING group. 61
30912057 2019
37
Deletion of the Homeodomain Protein Six6 From GnRH Neurons Decreases GnRH Gene Expression, Resulting in Infertility. 61
31211355 2019
38
Targeted Gene Panel Sequencing for Molecular Diagnosis of Kallmann Syndrome and Normosmic Idiopathic Hypogonadotropic Hypogonadism. 61
30216942 2019
39
Nonstop mutation in the Kisspeptin 1 receptor (KISS1R) gene causes normosmic congenital hypogonadotropic hypogonadism. 61
31073722 2019
40
Correlation of Olfactory Phenotype by Indian Smell Identification Test and Quantitative MRI of Olfactory Apparatus in Idiopathic Hypogonadotropic Hypogonadism. 61
31641641 2019
41
PROKR2 mutations in idiopathic hypogonadotropic hypogonadism: selective disruption of the binding to a Gα-protein leads to biased signaling. 61
30576231 2019
42
Prevalence and associated phenotypes of PLXNA1 variants in normosmic and anosmic idiopathic hypogonadotropic hypogonadism. 61
30467832 2019
43
Parallel Multi-Gene Panel Testing for Diagnosis of Idiopathic Hypogonadotropic Hypogonadism/Kallmann Syndrome. 61
31781422 2019
44
Osteocalcin Levels in Male Idiopathic Hypogonadotropic Hypogonadism: Relationship With the Testosterone Secretion and Metabolic Profiles. 61
31681165 2019
45
An Isolated Hypogonadotropic Hypogonadism due to a L102P Inactivating Mutation of KISS1R/GPR54 in a Large Family. 61
31885997 2019
46
Prokineticins and their G protein-coupled receptors in health and disease. 61
30711026 2019
47
The clinical and psychological profiles of patients with hypogonadism, followed in 3 reference hospitals of Cameroon: an observational study. 61
31448010 2019
48
The role of ADAMTS4 and ADAMTS9 in cardiovascular disease in premature ovarian insufficiency and idiopathic hypogonadotropic hypogonadism. 61
30187439 2018
49
Assessing Sex Steroid Influence on Kisspeptin Responsiveness in Idiopathic Hypogonadotropic Hypogonadism. 61
30430143 2018
50
Burden Testing of Rare Variants Identified through Exome Sequencing via Publicly Available Control Data. 61
30269813 2018

Variations for Hypogonadotropic Hypogonadism 7 with or Without Anosmia

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

6 (show top 50) (show all 141) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 BBIP1 NM_001195307.1(BBIP1):c.38-1015C>TSNV Pathogenic 626905 10:112661299-112661299 10:110901541-110901541
2 GNRHR NM_000406.3(GNRHR):c.785G>A (p.Arg262Gln)SNV Pathogenic 16024 rs104893837 4:68606400-68606400 4:67740682-67740682
3 GNRHR NM_000406.3(GNRHR):c.851A>G (p.Tyr284Cys)SNV Pathogenic 16025 rs28933074 4:68606334-68606334 4:67740616-67740616
4 GNRHR NM_000406.3(GNRHR):c.386C>A (p.Ala129Asp)SNV Pathogenic 16026 rs104893838 4:68619668-68619668 4:67753950-67753950
5 GNRHR NM_000406.3(GNRHR):c.651C>A (p.Ser217Arg)SNV Pathogenic 16027 rs104893839 4:68610377-68610377 4:67744659-67744659
6 GNRHR NM_000406.3(GNRHR):c.504T>A (p.Ser168Arg)SNV Pathogenic 16028 rs104893840 4:68619550-68619550 4:67753832-67753832
7 GNRHR NM_000406.3(GNRHR):c.941T>A (p.Leu314Ter)SNV Pathogenic 16029 rs104893841 4:68606244-68606244 4:67740526-67740526
8 GNRHR NM_000406.3(GNRHR):c.416G>A (p.Arg139His)SNV Pathogenic 16030 rs104893842 4:68619638-68619638 4:67753920-67753920
9 GNRHR NM_000406.3(GNRHR):c.268G>A (p.Glu90Lys)SNV Pathogenic 16032 rs104893844 4:68619786-68619786 4:67754068-67754068
10 GNRHR NM_000406.3(GNRHR):c.523-1G>ASNV Pathogenic 16033 rs797044452 4:68610506-68610506 4:67744788-67744788
11 GNRHR NM_000406.3(GNRHR):c.511G>A (p.Ala171Thr)SNV Pathogenic 16034 rs74452732 4:68619543-68619543 4:67753825-67753825
12 GNRHR NM_000406.3(GNRHR):c.959C>T (p.Pro320Leu)SNV Pathogenic 16036 rs104893847 4:68606226-68606226 4:67740508-67740508
13 POLR3B NM_018082.6(POLR3B):c.1568T>A (p.Val523Glu)SNV Pathogenic 31166 rs138249161 12:106826199-106826199 12:106432421-106432421
14 GNRHR NM_000406.3(GNRHR):c.842C>T (p.Thr281Ile)SNV Pathogenic 126540 rs515726220 4:68606343-68606343 4:67740625-67740625
15 GNRHR NM_000406.3(GNRHR):c.94A>G (p.Thr32Ala)SNV Pathogenic 126541 rs515726219 4:68619960-68619960 4:67754242-67754242
16 GNRHR NM_000406.3(GNRHR):c.392T>C (p.Met131Thr)SNV Pathogenic 140610 rs606231406 4:68619662-68619662 4:67753944-67753944
17 GNRHR NM_000406.3(GNRHR):c.806C>T (p.Thr269Met)SNV Pathogenic 140611 rs369176613 4:68606379-68606379 4:67740661-67740661
18 GNRHR NM_000406.3(GNRHR):c.350T>G (p.Leu117Arg)SNV Pathogenic/Likely pathogenic 180147 rs727505367 4:68619704-68619704 4:67753986-67753986
19 FGFR1 NM_023110.2(FGFR1):c.1864C>T (p.Arg622Ter)SNV Pathogenic/Likely pathogenic 16282 rs121909628 8:38272410-38272410 8:38414892-38414892
20 GNRHR NM_000406.3(GNRHR):c.317A>G (p.Gln106Arg)SNV Pathogenic/Likely pathogenic 16023 rs104893836 4:68619737-68619737 4:67754019-67754019
21 TACR3 NM_001059.3(TACR3):c.623G>A (p.Trp208Ter)SNV Likely pathogenic 180159 rs727505375 4:104579486-104579486 4:103658329-103658329
22 PNPLA6 NM_001166114.2(PNPLA6):c.898C>G (p.Pro300Ala)SNV Likely pathogenic 374157 rs1057518936 19:7605911-7605911 19:7541025-7541025
23 FGFR1 NM_023110.2(FGFR1):c.1097C>T (p.Pro366Leu)SNV Likely pathogenic 16299 rs121909641 8:38277238-38277238 8:38419720-38419720
24 GNRHR NM_001012763.1(GNRHR):c.30_31delTCinsAA (p.Asn10_Gln11delinsLysLys)indel Likely pathogenic 189195 rs281865427 4:68620023-68620024 4:67754305-67754306
25 GNRHR NM_000406.3(GNRHR):c.30T>A (p.Asn10Lys)SNV Likely pathogenic 16031 rs104893843 4:68620024-68620024 4:67754306-67754306
26 FGFR1 NM_023110.2(FGFR1):c.2209T>C (p.Trp737Arg)SNV Likely pathogenic 180162 rs727505377 8:38271519-38271519 8:38414001-38414001
27 FGFR1 NM_023110.2(FGFR1):c.2059G>A (p.Gly687Arg)SNV Likely pathogenic 180160 rs727505376 8:38271797-38271797 8:38414279-38414279
28 FGFR1 NM_023110.2(FGFR1):c.1916T>C (p.Ile639Thr)SNV Likely pathogenic 180153 rs727505370 8:38272358-38272358 8:38414840-38414840
29 FGFR1 NM_015850.4(FGFR1):c.1029_1030CT[1] (p.Ser344fs)short repeat Likely pathogenic 180154 rs727505371 8:38279358-38279359 8:38421840-38421841
30 FGFR1 NM_023110.2(FGFR1):c.821A>G (p.Glu274Gly)SNV Likely pathogenic 180152 rs727505369 8:38282142-38282142 8:38424624-38424624
31 FGFR1 NM_023110.2(FGFR1):c.296A>G (p.Tyr99Cys)SNV Likely pathogenic 180156 rs727505373 8:38287262-38287262 8:38429744-38429744
32 TAC3 NM_013251.4(TAC3):c.238C>A (p.Arg80Ser)SNV Likely pathogenic 180155 rs727505372 12:57407143-57407143 12:57013359-57013359
33 PROKR2 NM_144773.3(PROKR2):c.563C>T (p.Ser188Leu)SNV Likely pathogenic 180158 rs376239580 20:5283278-5283278 20:5302632-5302632
34 ANOS1 NM_000216.4(ANOS1):c.1369C>T (p.Arg457Ter)SNV Likely pathogenic 180157 rs727505374 X:8507785-8507785 X:8539744-8539744
35 RNF216 NM_207111.4(RNF216):c.2061G>A (p.Lys687=)SNV Likely pathogenic 183356 rs730882248 7:5751392-5751392 7:5711761-5711761
36 POLR3B NM_018082.6(POLR3B):c.1263+2T>CSNV Likely pathogenic 488794 rs774526181 12:106821138-106821138 12:106427360-106427360
37 GNRHR NM_000406.3(GNRHR):c.436C>T (p.Pro146Ser)SNV Conflicting interpretations of pathogenicity 449413 rs144900788 4:68619618-68619618 4:67753900-67753900
38 HS6ST1 NM_004807.3(HS6ST1):c.1144C>T (p.Arg382Trp)SNV Conflicting interpretations of pathogenicity 180161 rs199538589 2:129025828-129025828 2:128268254-128268254
39 POLR3B NM_018082.6(POLR3B):c.1244T>C (p.Met415Thr)SNV Conflicting interpretations of pathogenicity 285205 rs199504211 12:106821117-106821117 12:106427339-106427339
40 PNPLA6 NM_001166114.2(PNPLA6):c.4045C>T (p.Arg1349Trp)SNV Conflicting interpretations of pathogenicity 374055 rs374434303 19:7626395-7626395 19:7561509-7561509
41 GNRHR NM_000406.3(GNRHR):c.648C>T (p.Phe216=)SNV Conflicting interpretations of pathogenicity 349454 rs144451862 4:68610380-68610380 4:67744662-67744662
42 GNRHR NM_000406.3(GNRHR):c.*832T>CSNV Uncertain significance 349441 rs886059563 4:68605366-68605366 4:67739648-67739648
43 GNRHR NM_000406.3(GNRHR):c.*819A>TSNV Uncertain significance 349443 rs886059564 4:68605379-68605379 4:67739661-67739661
44 GNRHR NM_000406.3(GNRHR):c.*1248A>CSNV Uncertain significance 349437 rs886059560 4:68604950-68604950 4:67739232-67739232
45 GNRHR NM_000406.3(GNRHR):c.*730T>CSNV Uncertain significance 349447 rs566465436 4:68605468-68605468 4:67739750-67739750
46 GNRHR NM_000406.3(GNRHR):c.*2165A>GSNV Uncertain significance 349424 rs886059555 4:68604033-68604033 4:67738315-67738315
47 GNRHR NM_000406.3(GNRHR):c.*349A>CSNV Uncertain significance 349451 rs886059565 4:68605849-68605849 4:67740131-67740131
48 GNRHR NM_000406.3(GNRHR):c.*1193C>TSNV Uncertain significance 349438 rs886059561 4:68605005-68605005 4:67739287-67739287
49 GNRHR NM_000406.3(GNRHR):c.*1144A>GSNV Uncertain significance 349440 rs886059562 4:68605054-68605054 4:67739336-67739336
50 GNRHR NM_000406.3(GNRHR):c.773T>C (p.Ile258Thr)SNV Uncertain significance 349452 rs886059566 4:68606412-68606412 4:67740694-67740694

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

73 (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 rs139180852
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

Copy number variations for Hypogonadotropic Hypogonadism 7 with or Without Anosmia from CNVD:

7 (show all 23)
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 132541 19 59310648 59326954 Microdeletion PRPF31 Klinefelter syndrome
2 266741 Y 1 57772954 Deletion azoospermia Klinefelter syndrome
3 266742 Y 1 57772954 Deletion factor Klinefelter syndrome
4 266747 Y 1 57772954 Microdeletion AZFc Klinefelter syndrome
5 266797 Y 11300000 27200000 Microdeletio BPY2 Klinefelter syndrome
6 266799 Y 11300000 27200000 Microdeletio CDY1 Klinefelter syndrome
7 266801 Y 11300000 27200000 Microdeletio CDY2 Klinefelter syndrome
8 266803 Y 11300000 27200000 Microdeletio CSPG4LY Klinefelter syndrome
9 266805 Y 11300000 27200000 Microdeletio DAZ Klinefelter syndrome
10 266807 Y 11300000 27200000 Microdeletio EIF1AY Klinefelter syndrome
11 266809 Y 11300000 27200000 Microdeletio GOLGA2LY Klinefelter syndrome
12 266811 Y 11300000 27200000 Microdeletio HSFY Klinefelter syndrome
13 266813 Y 11300000 27200000 Microdeletio PRY Klinefelter syndrome
14 266815 Y 11300000 27200000 Microdeletio RBMYL1 Klinefelter syndrome
15 266817 Y 11300000 27200000 Microdeletio RPS4YS Klinefelter syndrome
16 266819 Y 11300000 27200000 Microdeletio SMCY Klinefelter syndrome
17 266821 Y 11300000 27200000 Microdeletio XKRY Klinefelter syndrome
18 266855 Y 11300000 57772954 Microdeletion AZF Klinefelter syndrome
19 266856 Y 11300000 57772954 Microdeletion AZFa Klinefelter syndrome
20 266859 Y 11300000 57772954 Microdeletion AZFc Klinefelter syndrome
21 266866 Y 11300000 57772954 Microdeletion b Klinefelter syndrome
22 266921 Y 13322553 13482162 Microdeletion DFFRY Klinefelter syndrome
23 266988 Y 18390253 18758303 Microdeletion XKRY Klinefelter syndrome

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

GO Terms for Hypogonadotropic Hypogonadism 7 with or Without Anosmia

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

# Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 9.17 SEMA3E PROKR2 HS6ST1 GNRHR FLRT3 FGFR1

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 MAPK cascade GO:0000165 9.62 IL17RD FGFR1 FGF17 DUSP6
2 neuron migration GO:0001764 9.58 FGFR1 FEZF1 AXL
3 axon guidance GO:0007411 9.56 SEMA3E FLRT3 FEZF1 ANOS1
4 head development GO:0060322 9.37 WDR11 FLRT3
5 multicellular organism development GO:0007275 9.28 SPRY4 SEMA3E GNRHR GNRH1 FLRT3 FGFR1
6 fibroblast growth factor receptor signaling pathway GO:0008543 9.26 FLRT3 FGFR1 FGF17 ANOS1
7 ovulation cycle GO:0042698 9.16 GNRH1 AXL

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 8.62 FLRT3 FGF17

Sources for Hypogonadotropic Hypogonadism 7 with or Without Anosmia

3 CDC
7 CNVD
9 Cosmic
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11 DGIdb
17 EFO
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68 SNOMED-CT via HPO
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70 Tocris
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72 UMLS via Orphanet
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