HH7
MCID: HYP535
MIFTS: 57

Hypogonadotropic Hypogonadism 7 with or Without Anosmia (HH7)

Categories: Cardiovascular diseases, Ear diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Rare diseases, Reproductive 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 73 29 13 6
Idiopathic Hypogonadotropic Hypogonadism 57 73 71
Hypogonadism, Isolated, Hypogonadotropic 74 20
Hypogonadism, Isolated Hypogonadotropic 57 71
Hypogonadotropic Hypogonadism 73 71
Hh7 57 73
Ihh 57 73
Congenital Hypogonadotropic Hypogonadism Normosmic 73
Hypogonadotropic Hypogonadism 7 Without Anosmia 57
Idiopathic Hypogonadotropic Hypogonadism; Ihh 57
Isolated Hypogonadotropic Hypogonadism 73
Isolated Gonadotropin Deficiency 71
Klinefelter Syndrome 71
Hh 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
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 recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0090078
OMIM® 57 146110
OMIM Phenotypic Series 57 PS147950
MeSH 44 D007006
ICD10 32 E23.0
MedGen 41 C0342384
UMLS 71 C0022735 C0271577 C0271623 more

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) (Updated 05-Mar-2021)

MalaCards based summary : Hypogonadotropic Hypogonadism 7 with or Without Anosmia, also known as idiopathic hypogonadotropic hypogonadism, is related to boucher-neuhauser syndrome and leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or 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 are G-protein signaling RAC1 in cellular process and Hormone ligand-binding receptors. The drugs Testosterone and Testosterone undecanoate have been mentioned in the context of this disorder. Affiliated tissues include pituitary, testes and bone, 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 411)
# Related Disease Score Top Affiliating Genes
1 boucher-neuhauser syndrome 32.9 POLR3B PNPLA6
2 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism 32.8 POLR3B PNPLA6
3 hypogonadotropic hypogonadism 1 with or without anosmia 32.3 FGFR1 ANOS1
4 oliver-mcfarlane syndrome 31.6 SRA1 PNPLA6
5 hypogonadotropic hypogonadism 23 without anosmia 31.4 PROKR2 GNRHR GNRH1 ANOS1
6 orofacial cleft 30.7 PROKR2 GNRH1 FGFR1 ANOS1
7 penis agenesis 30.5 GNRH1 BBIP1
8 coloboma of macula 30.3 PROKR2 GNRHR FGFR1 ANOS1
9 congenital hypogonadotropic hypogonadism 29.9 GNRHR FGFR1 DUSP6 ANOS1
10 choanal atresia, posterior 29.9 SEMA3E PROKR2 FGFR1 ANOS1
11 cryptorchidism, unilateral or bilateral 29.6 SPRY4 PROKR2 GNRHR GNRH1 FGFR1 ANOS1
12 charge syndrome 29.6 SEMA3E PROKR2 GNRHR GNRH1 FGFR1 ANOS1
13 septooptic dysplasia 29.3 PROKR2 GNRHR GNRH1 FGFR1 ANOS1
14 normosmic congenital hypogonadotropic hypogonadism 29.2 WDR11 SPRY4 PROKR2 POLR3B PNPLA6 GNRHR
15 sensorineural hearing loss 28.8 PROKR2 GNRHR GNRH1 FGFR1 FGF17 ANOS1
16 renal hypodysplasia/aplasia 1 28.8 SPRY4 PROKR2 GNRHR GNRH1 FGFR1 ANOS1
17 hypogonadism 27.6 WDR11 SPRY4 PROKR2 POLR3B PNPLA6 GNRHR
18 hypogonadotropic hypogonadism 27.3 WDR11 SPRY4 PROKR2 POLR3B PNPLA6 GNRHR
19 kallmann syndrome 27.3 WDR11 SPRY4 SEMA3E PROKR2 GNRHR GNRH1
20 gordon holmes syndrome 11.8
21 leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism 11.8
22 adrenal hypoplasia, congenital 11.7
23 hypogonadotropic hypogonadism 24 without anosmia 11.7
24 bosma arhinia microphthalmia syndrome 11.7
25 polr3-related leukodystrophy 11.6
26 multicore myopathy with mental retardation, short stature, and hypogonadotropic hypogonadism 11.5
27 brachydactyly, type a1 11.4
28 hypogonadotropic hypogonadism 9 with or without anosmia 11.4
29 leptin deficiency or dysfunction 11.4
30 acrocapitofemoral dysplasia 11.3
31 hypogonadotropic hypogonadism 2 with or without anosmia 11.3
32 hypogonadotropic hypogonadism 3 with or without anosmia 11.3
33 hypogonadotropic hypogonadism 4 with or without anosmia 11.3
34 hypogonadotropic hypogonadism 5 with or without anosmia 11.3
35 hypogonadotropic hypogonadism 6 with or without anosmia 11.3
36 hypogonadotropic hypogonadism 8 with or without anosmia 11.3
37 hypogonadotropic hypogonadism 10 with or without anosmia 11.3
38 hypogonadotropic hypogonadism 11 with or without anosmia 11.3
39 hypogonadotropic hypogonadism 12 with or without anosmia 11.3
40 hypogonadotropic hypogonadism 13 with or without anosmia 11.3
41 hypogonadotropic hypogonadism 14 with or without anosmia 11.3
42 hypogonadotropic hypogonadism 15 with or without anosmia 11.3
43 hypogonadotropic hypogonadism 16 with or without anosmia 11.3
44 hypogonadotropic hypogonadism 17 with or without anosmia 11.3
45 hypogonadotropic hypogonadism 18 with or without anosmia 11.3
46 hypogonadotropic hypogonadism 19 with or without anosmia 11.3
47 hypogonadotropic hypogonadism 20 with or without anosmia 11.3
48 hypogonadotropic hypogonadism 21 with or without anosmia 11.3
49 hypogonadotropic hypogonadism 22 with or without anosmia 11.3
50 hypogonadotropic hypogonadism 25 with anosmia 11.3

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®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.17 AXL BBIP1 CCDC141 DUSP6 FEZF1 FGFR1
2 nervous system MP:0003631 9.97 AXL BBIP1 CCDC141 FEZF1 FGF17 FGFR1
3 integument MP:0010771 9.91 AXL CCDC141 FGFR1 GNRH1 GNRHR PNPLA6
4 craniofacial MP:0005382 9.85 DUSP6 FEZF1 FGFR1 SPRY4 SRA1 WDR11
5 reproductive system MP:0005389 9.61 AXL BBIP1 CCDC141 FGFR1 GNRH1 GNRHR
6 skeleton MP:0005390 9.23 AXL DUSP6 FGFR1 GNRH1 POLR3B 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 78)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Testosterone Approved, Investigational Phase 4 58-22-0 6013
2
Testosterone undecanoate Approved, Investigational Phase 4 5949-44-0
3
Testosterone enanthate Approved Phase 4 315-37-7 9416
4
Methyltestosterone Approved Phase 4 58-18-4 6010
5
Zinc Approved, Investigational Phase 4 7440-66-6 32051
6
Menotropins Approved Phase 4 9002-68-0, 61489-71-2 5360545
7
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
8
Polyestradiol phosphate Approved Phase 4 28014-46-2
9
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
10
N,N-dimethylarginine Experimental Phase 4 30315-93-6 123831
11 Testosterone 17 beta-cypionate Phase 4
12 Antineoplastic Agents, Hormonal Phase 4
13 Androgens Phase 4
14 Mitogens Phase 4
15 Vitamins Phase 4
16 Calciferol Phase 4
17 Anabolic Agents Phase 4
18 Hormones Phase 4
19 Hormone Antagonists Phase 4
20 Estradiol 3-benzoate Phase 4
21 Estradiol 17 beta-cypionate Phase 4
22 Chorionic Gonadotropin Phase 4
23 Follicle Stimulating Hormone Phase 4
24
Sodium citrate Approved, Investigational Phase 3 68-04-2
25
Citric acid Approved, Nutraceutical, Vet_approved Phase 3 77-92-9 311
26
Castor oil Approved, Investigational, Nutraceutical, Vet_approved Phase 2, Phase 3 8001-79-4
27 Prolactin Release-Inhibiting Factors Phase 3
28 Citrate Phase 3
29 Cathartics Phase 2, Phase 3
30 Gastrointestinal Agents Phase 2, Phase 3
31 Castor Phase 2, Phase 3
32 Laxatives Phase 2, Phase 3
33
Oxandrolone Approved, Investigational Phase 2 53-39-4 5878
34
Isotretinoin Approved Phase 2 4759-48-2 5538 5282379
35
Tretinoin Approved, Investigational, Nutraceutical Phase 2 302-79-4 5538 444795
36
Calcitriol Approved, Nutraceutical Phase 2 32222-06-3 134070 5280453
37
Enclomiphene Investigational Phase 2 15690-57-0
38 Hypoglycemic Agents Phase 1, Phase 2
39 Nutrients Phase 2
40 Keratolytic Agents Phase 2
41 Micronutrients Phase 2
42 Trace Elements Phase 2
43 Dihydroxycholecalciferols Phase 2
44 Dermatologic Agents Phase 2
45 Calcium, Dietary Phase 2
46 Vasoconstrictor Agents Phase 2
47 Estrogens Phase 2
48 Estrogen Antagonists Phase 2
49 Estrogen Receptor Antagonists Phase 2
50 Estrogen Receptor Modulators Phase 2

Interventional clinical trials:

(show top 50) (show all 78)
# 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 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
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 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
8 Body Composition in Infants With Klinefelter Syndrome and Effects of Testosterone Treatment Completed NCT02408445 Phase 4 testosterone cypionate 200mg/ml
9 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
10 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
11 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)
12 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
13 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
14 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)
15 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)
16 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
17 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
18 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
19 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 (MK-8962-043) Completed NCT03019575 Phase 3 Corifollitropin alfa;hCG
20 Androgen Treatment in Leydig Cell Proliferation Completed NCT01206270 Phase 2, Phase 3 Testosterone undecanoate;Castor Oil
21 Pulsatile GnRH in Anovulatory Infertility Unknown status NCT00383656 Phase 2 GnRH
22 Effect of Intranasal Insulin on LH Concentrations in Man Completed NCT02154477 Phase 1, Phase 2 intranasal insulin;placebo (intranasal saline)
23 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
24 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
25 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
26 Recovery of Gonadal Function by Clomiphene in Males With Prolactinomas and Persistent Hypogonadism Completed NCT00697814 Phase 2 Clomiphene citrate
27 A 6 Month, Double-blind Safety Extension Study of MBGS205 Completed NCT02908074 Phase 2 BGS649
28 Androgen Effect on Motor/Cognitive Outcome in Klinefelter Syndrome Completed NCT00348946 Phase 2 androgen oxandrolone
29 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
30 Prolonged Pulsatile Kisspeptin Administration in Hypogonadotropic Hypogonadism Recruiting NCT04648969 Phase 2 kisspeptin 112-121;GnRH
31 Hypogonadotropic Hypogonadism in Obese Young Males Recruiting NCT03245827 Phase 2 Clomiphene;Placebo
32 Pharmacodynamics and Safety of Human Recombinant Luteinising Hormone in Hypogonadotropic Hypogonadal Men Not yet recruiting NCT04189133 Phase 2 Lutropin alfa;Human chorionic gonadotropin
33 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
34 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
35 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
36 Elucidating Kisspeptin Physiology by Blocking Kisspeptin Signaling Recruiting NCT01438073 Phase 1 kisspeptin 112-121;GnRH
37 Neuropeptides in Human Reproduction Recruiting NCT01952782 Phase 1 Kisspeptin 112-121;Naloxone;Gonadotropin Releasing Hormone (GnRH)
38 Kisspeptin Administration in the Adult Recruiting NCT00914823 Phase 1 kisspeptin 112-121;GnRH
39 Effect of Varying Testosterone Levels on Insulin Sensitivity in Men With Idiopathic Hypogonadotropic Hypogonadism Terminated NCT03118479 Phase 1 Anastrozole Pill;Testosterone;Placebo Oral Tablet
40 Efficacy of Pulsatile GnRH Therapy on Male Patients With Pituitary Stalk Interruption Syndrome Unknown status NCT02705014 Gonadotropin-releasing Hormone
41 Non-Invasive Determination of Fetal Chromosome Abnormalities Unknown status NCT00891852
42 Follow-up of Serum Androgen Profile After Bariatric Surgery in Men With Obesity Related Hypogonadotropic Hypogonadism Completed NCT00624624
43 Lipid Profile and Oxidative Stress Parameters of Patients With Idiopathic Hypogonadotropic Hypogonadism and the Change of These Parameters With Gonadotropin Replacement Therapy Completed NCT02728440 human chorionic gonadotropin, human menopausal gonadotropin
44 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
45 Plasma RBP Levels in Patients With Idiopathic Hypogonadotrophic Hypogonadism Completed NCT01758094 Sustanon 250 mg ampule (Testosterone esters)
46 The Central Nervous System Effects of Pharmacologically Induced Hypogonadotropic Hypogonadism With and Without Testosterone Replacement Completed NCT00001412
47 Factors Affecting Health Promoting Behavior in Rare Disease Patients: A Mixed Methods Study of Men With Congenital Hypogonadotropic Hypogonadism (CHH) Completed NCT01914172
48 5HT1A and SERT Imaging During Pharmacologically Induced Hypogonadotropic Hypogonadism With and Without Estrogen and Progesterone Replacement Completed NCT00100360
49 The Central Nervous System Effects of Pharmacologically Induced Hypogonadotropic Hypogonadism With and Without Estrogen and Progesterone Replacement Completed NCT00001322 Leuprolide Acetate 3.75;Estrogel;Progesterone
50 Osteoprotegerin, Fibroblast Growth Factor 23 and Vitamin D3 Levels in Male Patients With Hypogonadism Completed NCT02062307

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 GNRH1 GNRHR 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, Bone, Whole Blood, Prostate, Testis, Brain

Publications for Hypogonadotropic Hypogonadism 7 with or Without Anosmia

Articles related to Hypogonadotropic Hypogonadism 7 with or Without Anosmia:

(show top 50) (show all 374)
# Title Authors PMID Year
1
Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism. 57 6 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. 6 57 61
15240592 2004
3
Novel homozygous splice acceptor site GnRH receptor (GnRHR) mutation: human GnRHR "knockout". 57 6 61
12050282 2002
4
The fertile eunuch variant of idiopathic hypogonadotropic hypogonadism: spontaneous reversal associated with a homozygous mutation in the gonadotropin-releasing hormone receptor. 57 6 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. 57 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 57 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. 57 6
16968799 2006
8
Two novel mutations in the gonadotropin-releasing hormone receptor gene in Brazilian patients with hypogonadotropic hypogonadism and normal olfaction. 6 57
11397871 2001
9
Successful use of pulsatile gonadotropin-releasing hormone (GnRH) for ovulation induction and pregnancy in a patient with GnRH receptor mutations. 57 6
10690855 2000
10
Complete hypogonadotropic hypogonadism associated with a novel inactivating mutation of the gonadotropin-releasing hormone receptor. 57 6
10523035 1999
11
Resistance of hypogonadic patients with mutated GnRH receptor genes to pulsatile GnRH administration. 6 57
10084584 1999
12
Mutations in gonadotropin-releasing hormone receptor gene cause hypogonadotropic hypogonadism. 57 6
9425890 1998
13
A family with hypogonadotropic hypogonadism and mutations in the gonadotropin-releasing hormone receptor. 57 6
9371856 1997
14
A genetic basis for functional hypothalamic amenorrhea. 61 57
21247312 2011
15
Reversal of idiopathic hypogonadotropic hypogonadism. 61 57
17761590 2007
16
The prevalence of gonadotropin-releasing hormone receptor mutations in a large cohort of patients with hypogonadotropic hypogonadism. 61 57
16213849 2005
17
Prevalence, phenotypic spectrum, and modes of inheritance of gonadotropin-releasing hormone receptor mutations in idiopathic hypogonadotropic hypogonadism. 57 61
11297587 2001
18
When genetic load does not correlate with phenotypic spectrum: lessons from the GnRH receptor (GNRHR). 6
22745237 2012
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. 57
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. 57
10714361 1999
24
A case report of congenital idiopathic hypogonadotropic hypogonadism caused by novel mutation of GNRHR gene. 61
33592857 2021
25
Loss-of-function variants in SEMA3F and PLXNA3 encoding semaphorin-3F and its receptor plexin-A3 respectively cause idiopathic hypogonadotropic hypogonadism. 61
33495532 2021
26
Phenotypic continuum between Waardenburg syndrome and idiopathic hypogonadotropic hypogonadism in humans with SOX10 variants. 61
33442024 2021
27
Cell adhesion molecule L1 like plays a role in the pathogenesis of idiopathic hypogonadotropic hypogonadism. 61
33453020 2021
28
KISS1R signaling modulates gonadotropin sensitivity in mouse Leydig cell. 61
33112765 2020
29
Whole exome sequencing and trio analysis to broaden the variant spectrum of genes in idiopathic hypogonadotropic hypogonadism. 61
33208564 2020
30
Combined in vitro and in silico analyses of FGFR1 variants: genotype-phenotype study in idiopathic hypogonadotropic hypogonadism. 61
32666525 2020
31
Dizygotic twin sisters with normosmic idiopathic hypogonadotropic hypogonadism caused by an FGFR1 gene variant. 61
32871658 2020
32
The wonderful and masterful G protein-coupled receptor (GPCR): A focus on signaling mechanisms and the neuroendocrine control of fertility. 61
32574585 2020
33
Functional Characteristics of Novel FGFR1 Mutations in Patients with Isolated Gonadotropin-Releasing Hormone Deficiency. 61
32485746 2020
34
Hypogonadotropic hypogonadism due to variants in RAB3GAP2: expanding the phenotypic and genotypic spectrum of Martsolf syndrome. 61
32376645 2020
35
Integrative analysis of genomic and epigenetic regulation of endometrial cancer. 61
32412912 2020
36
Phenotypic Spectrum of Idiopathic Hypogonadotropic Hypogonadism Patients With CHD7 Variants From a Large Chinese Cohort. 61
31689711 2020
37
Identification of KISS1R gene mutations in disorders of non-obstructive azoospermia in the northeast population of China. 61
31821609 2020
38
Normosmic idiopathic hypogonadotropic hypogonadism due to a novel GNRH1 variant in two siblings. 61
32134721 2020
39
A novel splice site variant in ANOS1 gene leads to Kallmann syndrome in three siblings. 61
31669640 2020
40
Genotypic and phenotypic spectra of FGFR1, FGF8, and FGF17 mutations in a Chinese cohort with idiopathic hypogonadotropic hypogonadism. 61
31748124 2020
41
Kallmann Syndrome Due to Heterozygous Mutation in SOX10 Coexisting With Waardenburg Syndrome Type II: Case Report and Review of Literature. 61
33597923 2020
42
Three Siblings with Idiopathic Hypogonadotropic Hypogonadism in a Nonconsanguineous Family: A Novel KISS1R/GPR54 Loss-of-Function Mutation 61
30905142 2019
43
A review of hypogonadotropic hypogonadism cases followed up in our clinic in the last decade. 61
31622170 2019
44
Understanding the functions of kisspeptin and kisspeptin receptor (Kiss1R) from clinical case studies. 61
30339828 2019
45
Thyroid function in Klinefelter syndrome: a multicentre study from KING group. 61
30912057 2019
46
Targeted Gene Panel Sequencing for Molecular Diagnosis of Kallmann Syndrome and Normosmic Idiopathic Hypogonadotropic Hypogonadism. 61
30216942 2019
47
Deletion of the Homeodomain Protein Six6 From GnRH Neurons Decreases GnRH Gene Expression, Resulting in Infertility. 61
31211355 2019
48
Nonstop mutation in the Kisspeptin 1 receptor (KISS1R) gene causes normosmic congenital hypogonadotropic hypogonadism. 61
31073722 2019
49
Correlation of Olfactory Phenotype by Indian Smell Identification Test and Quantitative MRI of Olfactory Apparatus in Idiopathic Hypogonadotropic Hypogonadism. 61
31641641 2019
50
PROKR2 mutations in idiopathic hypogonadotropic hypogonadism: selective disruption of the binding to a Gα-protein leads to biased signaling. 61
30576231 2019

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 143)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GNRHR NM_000406.3(GNRHR):c.851A>G (p.Tyr284Cys) SNV Pathogenic 16025 rs28933074 4:68606334-68606334 4:67740616-67740616
2 GNRHR NM_000406.3(GNRHR):c.386C>A (p.Ala129Asp) SNV Pathogenic 16026 rs104893838 4:68619668-68619668 4:67753950-67753950
3 GNRHR NM_000406.3(GNRHR):c.651C>A (p.Ser217Arg) SNV Pathogenic 16027 rs104893839 4:68610377-68610377 4:67744659-67744659
4 GNRHR NM_000406.3(GNRHR):c.504T>A (p.Ser168Arg) SNV Pathogenic 16028 rs104893840 4:68619550-68619550 4:67753832-67753832
5 GNRHR NM_000406.3(GNRHR):c.941T>A (p.Leu314Ter) SNV Pathogenic 16029 rs104893841 4:68606244-68606244 4:67740526-67740526
6 GNRHR NM_000406.3(GNRHR):c.416G>A (p.Arg139His) SNV Pathogenic 16030 rs104893842 4:68619638-68619638 4:67753920-67753920
7 GNRHR NM_000406.3(GNRHR):c.30T>A (p.Asn10Lys) SNV Pathogenic 16031 rs104893843 4:68620024-68620024 4:67754306-67754306
8 GNRHR NM_000406.3(GNRHR):c.268G>A (p.Glu90Lys) SNV Pathogenic 16032 rs104893844 4:68619786-68619786 4:67754068-67754068
9 GNRHR NM_000406.3(GNRHR):c.523-1G>A SNV Pathogenic 16033 rs797044452 4:68610506-68610506 4:67744788-67744788
10 GNRHR NM_000406.3(GNRHR):c.511G>A (p.Ala171Thr) SNV Pathogenic 16034 rs74452732 4:68619543-68619543 4:67753825-67753825
11 GNRHR NM_001012763.1(GNRHR):c.30_31delinsAA (p.Asn10_Gln11delinsLysLys) Indel Pathogenic 189195 4:68620023-68620024 4:67754305-67754306
12 GNRHR NM_000406.3(GNRHR):c.959C>T (p.Pro320Leu) SNV Pathogenic 16036 rs104893847 4:68606226-68606226 4:67740508-67740508
13 GNRHR NM_000406.3(GNRHR):c.842C>T (p.Thr281Ile) SNV Pathogenic 126540 rs515726220 4:68606343-68606343 4:67740625-67740625
14 GNRHR NM_000406.3(GNRHR):c.94A>G (p.Thr32Ala) SNV Pathogenic 126541 rs515726219 4:68619960-68619960 4:67754242-67754242
15 GNRHR NM_000406.3(GNRHR):c.392T>C (p.Met131Thr) SNV Pathogenic 140610 rs606231406 4:68619662-68619662 4:67753944-67753944
16 GNRHR NM_000406.3(GNRHR):c.806C>T (p.Thr269Met) SNV Pathogenic 140611 rs369176613 4:68606379-68606379 4:67740661-67740661
17 GNRHR NM_000406.3(GNRHR):c.350T>G (p.Leu117Arg) SNV Pathogenic 180147 rs727505367 4:68619704-68619704 4:67753986-67753986
18 POLR3B NM_018082.6(POLR3B):c.1568T>A (p.Val523Glu) SNV Pathogenic 31166 rs138249161 12:106826199-106826199 12:106432421-106432421
19 BBIP1 NM_001195307.1(BBIP1):c.38-1015C>T SNV Pathogenic 626905 rs1590746439 10:112661299-112661299 10:110901541-110901541
20 GNRHR NM_000406.3(GNRHR):c.785G>A (p.Arg262Gln) SNV Pathogenic 16024 rs104893837 4:68606400-68606400 4:67740682-67740682
21 GNRHR NM_000406.3(GNRHR):c.317A>G (p.Gln106Arg) SNV Pathogenic/Likely pathogenic 16023 rs104893836 4:68619737-68619737 4:67754019-67754019
22 PNPLA6 NM_001166114.2(PNPLA6):c.4045C>T (p.Arg1349Trp) SNV Likely pathogenic 374055 rs374434303 19:7626395-7626395 19:7561509-7561509
23 PNPLA6 NM_001166114.2(PNPLA6):c.898C>G (p.Pro300Ala) SNV Likely pathogenic 374157 rs1057518936 19:7605911-7605911 19:7541025-7541025
24 POLR3B NM_018082.6(POLR3B):c.1263+2T>C SNV Likely pathogenic 488794 rs774526181 12:106821138-106821138 12:106427360-106427360
25 FGFR1 NM_023110.2(FGFR1):c.821A>G (p.Glu274Gly) SNV Likely pathogenic 180152 rs727505369 8:38282142-38282142 8:38424624-38424624
26 FGFR1 NM_023110.2(FGFR1):c.1864C>T (p.Arg622Ter) SNV Likely pathogenic 16282 rs121909628 8:38272410-38272410 8:38414892-38414892
27 FGFR1 NM_023110.2(FGFR1):c.1916T>C (p.Ile639Thr) SNV Likely pathogenic 180153 rs727505370 8:38272358-38272358 8:38414840-38414840
28 FGFR1 NM_015850.4(FGFR1):c.1029_1030CT[1] (p.Ser344fs) Microsatellite Likely pathogenic 180154 rs727505371 8:38279358-38279359 8:38421840-38421841
29 TAC3 NM_013251.4(TAC3):c.238C>A (p.Arg80Ser) SNV Likely pathogenic 180155 rs727505372 12:57407143-57407143 12:57013359-57013359
30 FGFR1 NM_023110.2(FGFR1):c.296A>G (p.Tyr99Cys) SNV Likely pathogenic 180156 rs727505373 8:38287262-38287262 8:38429744-38429744
31 ANOS1 NM_000216.4(ANOS1):c.1369C>T (p.Arg457Ter) SNV Likely pathogenic 180157 rs727505374 X:8507785-8507785 X:8539744-8539744
32 PROKR2 NM_144773.3(PROKR2):c.563C>T (p.Ser188Leu) SNV Likely pathogenic 180158 rs376239580 20:5283278-5283278 20:5302632-5302632
33 TACR3 NM_001059.3(TACR3):c.623G>A (p.Trp208Ter) SNV Likely pathogenic 180159 rs727505375 4:104579486-104579486 4:103658329-103658329
34 FGFR1 NM_023110.2(FGFR1):c.2059G>A (p.Gly687Arg) SNV Likely pathogenic 180160 rs727505376 8:38271797-38271797 8:38414279-38414279
35 FGFR1 NM_023110.2(FGFR1):c.2209T>C (p.Trp737Arg) SNV Likely pathogenic 180162 rs727505377 8:38271519-38271519 8:38414001-38414001
36 FGFR1 NM_023110.2(FGFR1):c.1097C>T (p.Pro366Leu) SNV Likely pathogenic 16299 rs121909641 8:38277238-38277238 8:38419720-38419720
37 RNF216 NM_207111.4(RNF216):c.2061G>A (p.Lys687=) SNV Likely pathogenic 183356 rs730882248 7:5751392-5751392 7:5711761-5711761
38 GNRHR NM_000406.3(GNRHR):c.416G>A (p.Arg139His) SNV Likely pathogenic 16030 rs104893842 4:68619638-68619638 4:67753920-67753920
39 HS6ST1 NM_004807.3(HS6ST1):c.1144C>T (p.Arg382Trp) SNV Conflicting interpretations of pathogenicity 180161 rs199538589 2:129025828-129025828 2:128268254-128268254
40 GNRHR NM_000406.2(GNRHR):c.-1239T>A SNV Uncertain significance 349476 rs879487074 4:68621292-68621292 4:67755574-67755574
41 GNRHR NM_000406.3(GNRHR):c.*1193C>T SNV Uncertain significance 349438 rs886059561 4:68605005-68605005 4:67739287-67739287
42 GNRHR NM_000406.3(GNRHR):c.*1654C>T SNV Uncertain significance 349432 rs184206874 4:68604544-68604544 4:67738826-67738826
43 GNRHR NM_000406.3(GNRHR):c.*2919A>G SNV Uncertain significance 349418 rs149178613 4:68603279-68603279 4:67737561-67737561
44 GNRHR NM_000406.2(GNRHR):c.-107C>T SNV Uncertain significance 349459 rs184491810 4:68620160-68620160 4:67754442-67754442
45 GNRHR NM_000406.3(GNRHR):c.*832T>C SNV Uncertain significance 349441 rs886059563 4:68605366-68605366 4:67739648-67739648
46 GNRHR NM_000406.3(GNRHR):c.*2165A>G SNV Uncertain significance 349424 rs886059555 4:68604033-68604033 4:67738315-67738315
47 GNRHR NM_000406.2(GNRHR):c.-721A>G SNV Uncertain significance 349465 rs886059571 4:68620774-68620774 4:67755056-67755056
48 GNRHR NM_000406.3(GNRHR):c.*1892C>A SNV Uncertain significance 349430 rs183815234 4:68604306-68604306 4:67738588-67738588
49 GNRHR NM_000406.3(GNRHR):c.*730T>C SNV Uncertain significance 349447 rs566465436 4:68605468-68605468 4:67739750-67739750
50 GNRHR NM_000406.2(GNRHR):c.-962G>A SNV Uncertain significance 349471 rs886059575 4:68621015-68621015 4:67755297-67755297

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

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
Show member pathways
11.55 GNRH1 FGFR1 FGF17 AXL
2 9.74 GNRHR GNRH1

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 9.8 SRA1 SEMA3E FGF17 FEZF1 DUSP6 AXL
2 positive regulation of protein kinase B signaling GO:0051897 9.58 FGFR1 FGF17 AXL
3 neuron migration GO:0001764 9.54 FGFR1 FEZF1 AXL
4 fibroblast growth factor receptor signaling pathway GO:0008543 9.43 FGFR1 FGF17 ANOS1
5 axon guidance GO:0007411 9.26 SEMA3E FEZF1 CCDC141 ANOS1
6 multicellular organism development GO:0007275 9.23 SPRY4 SEMA3E GNRHR GNRH1 FGFR1 FGF17
7 ovulation cycle GO:0042698 9.16 GNRH1 AXL

Sources for Hypogonadotropic Hypogonadism 7 with or Without Anosmia

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