HH1
MCID: HYP513
MIFTS: 45

Hypogonadotropic Hypogonadism 1 with or Without Anosmia (HH1)

Categories: Endocrine diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Reproductive diseases, Smell/Taste diseases

Aliases & Classifications for Hypogonadotropic Hypogonadism 1 with or Without Anosmia

MalaCards integrated aliases for Hypogonadotropic Hypogonadism 1 with or Without Anosmia:

Name: Hypogonadotropic Hypogonadism 1 with or Without Anosmia 56 12 73 29 13 6
Kallmann Syndrome 1 56 52 73 29 6 71
Dysplasia Olfactogenitalis of De Morsier 56 12 73
Kal1 56 52 73
Hypogonadotropic Hypogonadism and Anosmia 56 73
Anosmic Hypogonadism 56 73
Kms 56 73
Hh1 56 73
Hha 56 73
Hypogonadism, Hypogonadotropic, Type 1, with/without Anosmia ) 39
Hypogonadotropic Hypogonadism and Anosmia; Hha 56
Kallmann Syndrome, Type 1, X-Linked 52
Kallmann Syndrome, X-Linked 52
Kallmann Syndrome 1; Kal1 56
Kallmann Syndrome 71

Characteristics:

OMIM:

56
Inheritance:
x-linked recessive

Miscellaneous:
heterozygous females may be susceptible to functional hypothalamic amenorrhea


HPO:

31
hypogonadotropic hypogonadism 1 with or without anosmia:
Inheritance x-linked inheritance x-linked recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0090094
OMIM 56 308700
OMIM Phenotypic Series 56 PS147950
MeSH 43 D017436
ICD10 32 E23.0
MedGen 41 C1563719
UMLS 71 C0162809 C1563719

Summaries for Hypogonadotropic Hypogonadism 1 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.' For information on the autosomal forms of hypogonadotropic hypogonadism with or without anosmia, see 147950. (308700)

MalaCards based summary : Hypogonadotropic Hypogonadism 1 with or Without Anosmia, also known as kallmann syndrome 1, is related to kabuki syndrome 1 and hemangioma-thrombocytopenia syndrome. An important gene associated with Hypogonadotropic Hypogonadism 1 with or Without Anosmia is ANOS1 (Anosmin 1). The drugs Zinc and Menotropins have been mentioned in the context of this disorder. Affiliated tissues include pituitary, kidney and breast, and related phenotypes are facial asymmetry and ataxia

Disease Ontology : 12 A hypogonadotropic hypogonadism that has material basis in mutation in the KAL1 gene on chromosome Xp22.3, sometimes in association with mutation in another gene.

NIH Rare Diseases : 52 Kallmann syndrome 1 is an inherited disorder characterized by delayed or absent puberty and an impaired sense of smell. Other symptoms may include color blindness , cleft lip or palate , abnormal eye movements, hearing loss , failure of one of the kidneys to develop, mirror image hand movements, abnormalities of tooth development, and infertility . This disorder is a form of hypogonadotropic hypogonadism . Affected males are usually born with a small penis and undescended testicles. Affected females usually do not begin menstruating at puberty and have little or no breast development. Kallmann syndrome 1 is the most common type of Kallmann syndrome (there are four types identified at this time). It is caused by mutations in the KAL1 gene and is inherited in an X-linked recessive fashion.

UniProtKB/Swiss-Prot : 73 Hypogonadotropic hypogonadism 1 with or without anosmia: A disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it is associated with non- reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin- releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH).

Related Diseases for Hypogonadotropic Hypogonadism 1 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 1 with or Without Anosmia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 261)
# Related Disease Score Top Affiliating Genes
1 kabuki syndrome 1 12.3
2 hemangioma-thrombocytopenia syndrome 11.4
3 cardiomyopathy, familial hypertrophic, 20 11.3
4 muscular dystrophy-dystroglycanopathy , type c, 7 11.3
5 renal hypodysplasia/aplasia 1 10.4
6 isolated gonadotropin-releasing hormone deficiency 10.4
7 hypogonadotropic hypogonadism 7 with or without anosmia 10.3
8 end stage renal failure 10.3
9 cleft palate, isolated 10.3
10 hypogonadotropic hypogonadism 2 with or without anosmia 10.3
11 branchiootic syndrome 1 10.3
12 hypogonadotropic hypogonadism 10.3
13 sensorineural hearing loss 10.3
14 kallmann syndrome 10.3
15 duane retraction syndrome 1 10.2
16 mirror movements 1 10.2
17 hypogonadotropic hypogonadism 23 without anosmia 10.2
18 cleft lip 10.2
19 cleft lip/palate 10.2
20 autoimmune disease 10.2
21 diabetes mellitus, insulin-dependent 10.2
22 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.2
23 hartsfield syndrome 10.1
24 ichthyosis 10.1
25 hypopituitarism 10.1
26 congenital hypogonadotropic hypogonadism 10.1
27 normosmic congenital hypogonadotropic hypogonadism 10.1
28 alcohol dependence 10.1
29 neutrophil migration 10.1
30 ossification of the posterior longitudinal ligament of spine 10.1
31 pertussis 10.1
32 pulmonary tuberculosis 10.1
33 pyloric stenosis 10.1
34 hemophilia b 10.1
35 gallbladder disease 1 10.1
36 salmonellosis 10.1
37 filariasis 10.1
38 cholecystolithiasis 10.1
39 filarial elephantiasis 10.1
40 hemolytic-uremic syndrome 10.1
41 glucosephosphate dehydrogenase deficiency 10.1
42 substance abuse 10.1
43 lipid metabolism disorder 10.1
44 hemolytic anemia 10.1
45 hemophilia 10.1
46 hepatitis c virus 10.1
47 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.1
48 lymphocytic leukemia 10.1
49 visual epilepsy 10.1
50 haemophilus influenzae 10.1

Graphical network of the top 20 diseases related to Hypogonadotropic Hypogonadism 1 with or Without Anosmia:



Diseases related to Hypogonadotropic Hypogonadism 1 with or Without Anosmia

Symptoms & Phenotypes for Hypogonadotropic Hypogonadism 1 with or Without Anosmia

Human phenotypes related to Hypogonadotropic Hypogonadism 1 with or Without Anosmia:

31 (show all 22)
# Description HPO Frequency HPO Source Accession
1 facial asymmetry 31 occasional (7.5%) HP:0000324
2 ataxia 31 HP:0001251
3 high palate 31 HP:0000218
4 cryptorchidism 31 HP:0000028
5 pes cavus 31 HP:0001761
6 hypogonadotrophic hypogonadism 31 HP:0000044
7 testicular atrophy 31 HP:0000029
8 decreased testicular size 31 HP:0008734
9 micropenis 31 HP:0000054
10 anosmia 31 HP:0000458
11 azoospermia 31 HP:0000027
12 gynecomastia 31 HP:0000771
13 hyposmia 31 HP:0004409
14 unilateral renal agenesis 31 HP:0000122
15 olfactory lobe agenesis 31 HP:0001341
16 sparse pubic hair 31 HP:0002225
17 decreased circulating follicle stimulating hormone level 31 HP:0030341
18 decreased circulating luteinizing hormone level 31 HP:0030344
19 eunuchoid habitus 31 HP:0003782
20 bimanual synkinesia 31 HP:0001335
21 leydig cell insensitivity to gonadotropin 31 HP:0002929
22 hypothalamic gonadotropin-releasing hormone deficiency 31 HP:0003164

Symptoms via clinical synopsis from OMIM:

56
Genitourinary External Genitalia Male:
micropenis

Endocrine Features:
hypogonadotropic hypogonadism
low testosterone levels
failure of spontaneous puberty
low luteinizing hormone (lh) levels
apulsatile lh secretion
more
Head And Neck Nose:
anosmia or hyposmia

Genitourinary Kidneys:
unilateral renal aplasia (in some patients)

Genitourinary Internal Genitalia Male:
azoospermia
small testes
cryptorchidism, unilateral or bilateral

Head And Neck Face:
facial asymmetry (in some patients)

Genitourinary Internal Genitalia Female:
hypothalamic amenorrhea, functional (in some carrier females)

Neurologic Central Nervous System:
aplasia or hypoplasia of olfactory bulbs
bimanual synkinesia (mirror movements of the hands, in some patients)

Clinical features from OMIM:

308700

Drugs & Therapeutics for Hypogonadotropic Hypogonadism 1 with or Without Anosmia

Drugs for Hypogonadotropic Hypogonadism 1 with or Without Anosmia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 41)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Zinc Approved, Investigational Phase 4 7440-66-6 32051
2
Menotropins Approved Phase 4 9002-68-0, 61489-71-2 5360545
3 Chorionic Gonadotropin Phase 4
4 Fertility Agents Phase 4
5
Testosterone Approved, Experimental, Investigational Phase 2 58-22-0, 481-30-1 6013 10204
6 Prolactin Release-Inhibiting Factors Phase 2
7 Hormone Antagonists Phase 2
8 Hormones Phase 2
9 Follicle Stimulating Hormone Phase 2
10
Methyltestosterone Approved Phase 1 58-18-4 6010
11
Testosterone undecanoate Approved, Investigational Phase 1 5949-44-0
12
Testosterone enanthate Approved Phase 1 315-37-7 9416
13
Anastrozole Approved, Investigational Phase 1 120511-73-1 2187
14 Estrogens Phase 1
15 Anabolic Agents Phase 1
16 Antineoplastic Agents, Hormonal Phase 1
17 Testosterone 17 beta-cypionate Phase 1
18 Androgens Phase 1
19 Steroid Synthesis Inhibitors Phase 1
20 Hypoglycemic Agents Phase 1
21 Aromatase Inhibitors Phase 1
22 insulin Phase 1
23 Insulin, Globin Zinc Phase 1
24 Estrogen Receptor Antagonists Phase 1
25 Estrogen Antagonists Phase 1
26
Ketoconazole Approved, Investigational 65277-42-1 47576
27
Miconazole Approved, Investigational, Vet_approved 22916-47-8 4189
28
Estradiol Approved, Investigational, Vet_approved 50-28-2 5757
29
Polyestradiol phosphate Approved 28014-46-2
30
Estrone Approved 53-16-7 5870
31 Acyline Investigational 170157-13-8
32 Cytochrome P-450 CYP3A Inhibitors
33 Cytochrome P-450 Enzyme Inhibitors
34 Anti-Infective Agents
35 Antifungal Agents
36 Estradiol 17 beta-cypionate
37 Contraceptive Agents
38 Estradiol 3-benzoate
39 Estropipate 7280-37-7
40 Trisequens
41 Drospirenone and ethinyl estradiol combination

Interventional clinical trials:

(show all 20)
# Name Status NCT ID Phase Drugs
1 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
2 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
3 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 Not yet recruiting NCT03687606 Phase 4 Human Chorionic Gonadotropin;human menopausal gonadotropin
4 Pulsatile GnRH in Anovulatory Infertility Recruiting NCT00383656 Phase 2 GnRH
5 Role of FSH in Human Gonadal Development Terminated NCT00064987 Phase 2 gonadotropin releasing hormone (GnRH);follicle stimulating hormone (FSH)
6 Kisspeptin in the Evaluation of Delayed Puberty Recruiting NCT01438034 Phase 1 kisspeptin 112-121;GnRH
7 Kisspeptin Administration in the Adult Recruiting NCT00914823 Phase 1 kisspeptin 112-121;GnRH
8 Effect of Varying Testosterone Levels on Insulin Sensitivity in Men With Idiopathic Hypogonadotropic Hypogonadism Terminated NCT03118479 Phase 1 Anastrozole Pill;Testosterone;Placebo Oral Tablet
9 Factors Affecting Health Promoting Behavior in Rare Disease Patients: A Mixed Methods Study of Men With Congenital Hypogonadotropic Hypogonadism (CHH) Completed NCT01914172
10 Feedback Control of FSH Secretion in the Human Male Completed NCT00392457 ketoconazole;gonadotropin releasing hormone (GnRH)
11 Effect of Varying Testosterone Levels on Insulin Sensitivity in Normal and IHH Men Completed NCT00470990 GnRH antagonist (Acyline)
12 The Genetic Investigation of Reproductive Disorders (Including Kallmann Syndrome) Recruiting NCT01601171
13 Role of Gonadotropin Pulsations in the Reversal of Hypogonadotropic Hypogonadism Recruiting NCT00392756 gonadotropin releasing hormone (GnRH)
14 Molecular Basis of Inherited Reproductive Disorders Recruiting NCT00494169
15 The Molecular Basis of Inherited Reproductive Disorders Recruiting NCT01500447
16 The Role of Gonadotropin Pulsations in the Regulation of Puberty and Fertility Recruiting NCT01511588
17 Baselines in Reproductive Disorders Recruiting NCT00456274
18 The Effects of 7 Days of Exogenous Pulsatile GnRH Treatment on the Pituitary-Gonadal Axis in Hypogonadotropic Hypogonadal Subjects Active, not recruiting NCT00493961 gonadotropin releasing hormone (GnRH)
19 Kallmann Syndrome in Finland Enrolling by invitation NCT00623116 Short withdrawal of testosterone, gonadotropins or estrogenic compounds (see below)
20 Psychological Outcomes in Isolated GNRH Deficiency Terminated NCT02356172

Search NIH Clinical Center for Hypogonadotropic Hypogonadism 1 with or Without Anosmia

Genetic Tests for Hypogonadotropic Hypogonadism 1 with or Without Anosmia

Genetic tests related to Hypogonadotropic Hypogonadism 1 with or Without Anosmia:

# Genetic test Affiliating Genes
1 Kallmann Syndrome 1 29 ANOS1
2 Hypogonadotropic Hypogonadism 1 with or Without Anosmia (kallmann Syndrome 1) 29

Anatomical Context for Hypogonadotropic Hypogonadism 1 with or Without Anosmia

MalaCards organs/tissues related to Hypogonadotropic Hypogonadism 1 with or Without Anosmia:

40
Pituitary, Kidney, Breast, Olfactory Bulb, Eye, Liver, T Cells

Publications for Hypogonadotropic Hypogonadism 1 with or Without Anosmia

Articles related to Hypogonadotropic Hypogonadism 1 with or Without Anosmia:

(show top 50) (show all 55)
# Title Authors PMID Year
1
Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2. 56 6
17054399 2006
2
Novel fibroblast growth factor receptor 1 mutations in patients with congenital hypogonadotropic hypogonadism with and without anosmia. 56 6
16882753 2006
3
X chromosome-linked Kallmann syndrome: clinical heterogeneity in three siblings carrying an intragenic deletion of the KAL-1 gene. 56 6
12727945 2003
4
Contiguous gene syndrome due to deletion of the first three exons of the Kallmann gene and complete deletion of the steroid sulphatase gene. 56 6
9713559 1998
5
X chromosome-linked Kallmann syndrome: stop mutations validate the candidate gene. 56 6
1518845 1992
6
Brief report: intragenic deletion of the KALIG-1 gene in Kallmann's syndrome. 56 6
1594017 1992
7
A genetic basis for functional hypothalamic amenorrhea. 61 56
21247312 2011
8
Clinical assessment and mutation analysis of Kallmann syndrome 1 (KAL1) and fibroblast growth factor receptor 1 (FGFR1, or KAL2) in five families and 18 sporadic patients. 61 56
15001591 2004
9
Clues to an early diagnosis of Kallmann syndrome. 56
20949504 2010
10
Kallmann's syndrome: a comparison of the reproductive phenotypes in men carrying KAL1 and FGFR1/KAL2 mutations. 56
18160472 2008
11
Reversal of idiopathic hypogonadotropic hypogonadism. 56
17761590 2007
12
Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency 6
20301509 2007
13
Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. 56
12627230 2003
14
Identification of three novel mutations in the KAL1 gene in patients with Kallmann syndrome. 6
12050219 2002
15
The importance of autosomal genes in Kallmann syndrome: genotype-phenotype correlations and neuroendocrine characteristics. 56
11297579 2001
16
A novel interstitial deletion of KAL1 in a Japanese family with Kallmann syndrome. 56
10944855 2000
17
Kallmann's syndrome: mirror movements associated with bilateral corticospinal tract hypertrophy. 56
10078733 1999
18
A recurrent missense mutation in the KAL gene in patients with X-linked Kallmann's syndrome. 6
9589672 1998
19
Genetic heterogeneity evidenced by low incidence of KAL-1 gene mutations in sporadic cases of gonadotropin-releasing hormone deficiency. 56
8989261 1997
20
The neuroradiology of Kallmann's syndrome: a genotypic and phenotypic analysis. 56
8768867 1996
21
Variable penetrance of hypogonadism in a sibship with Kallmann syndrome due to a deletion of the KAL gene. 56
7677154 1995
22
Unilateral renal aplasia in X-linked Kallmann's syndrome. 56
7820942 1994
23
Diagnosis of X-recessive Kallmann syndrome in early infancy. Evidence of hypoplastic rhinencephalon. 56
8194555 1994
24
Heterogeneity in the mutations responsible for X chromosome-linked Kallmann syndrome. 56
8504298 1993
25
X-chromosome-linked Kallmann's syndrome: pathology at the molecular level. 56
8473390 1993
26
Kallmann syndrome due to a translocation resulting in an X/Y fusion gene. 56
1302031 1992
27
Sequence analysis of a partial deletion of the human steroid sulfatase gene reveals 3 bp of homology at deletion breakpoints. 6
1639422 1992
28
Nonhomologous recombination in the human genome: deletions in the human factor VIII gene. 6
1904396 1991
29
Definitive localization of X-linked Kallman syndrome (hypogonadotropic hypogonadism and anosmia) to Xp22.3: close linkage to the hypervariable repeat sequence CRI-S232. 56
1977309 1990
30
Long-range restriction map of the terminal part of the short arm of the human X chromosome. 56
2339111 1990
31
Identical twins discordant for Kallmann's syndrome. 56
2325096 1990
32
Luteinizing hormone-releasing hormone (LHRH)-expressing cells do not migrate normally in an inherited hypogonadal (Kallmann) syndrome. 56
2687610 1989
33
Evidence that cells expressing luteinizing hormone-releasing hormone mRNA in the mouse are derived from progenitor cells in the olfactory placode. 56
2682637 1989
34
Male infant with ichthyosis, Kallmann syndrome, chondrodysplasia punctata, and an Xp chromosome deletion. 56
2750777 1989
35
Stimulation of spermatogenesis and biological paternity by intranasal (low dose) gonadotropin-releasing hormone (GnRH) in a male with Kallmann's syndrome: intraindividual comparison of GnRH and gonadotropins for stimulation of spermatogenesis. 56
3312278 1987
36
Estimating frequency of Kallmann syndrome among hypogonadic and among anosmic patients. 56
3101500 1987
37
X-linked ichthyosis, due to steroid sulphatase deficiency, associated with Kallmann syndrome (hypogonadotropic hypogonadism and anosmia): linkage relationships with Xg and cloned DNA sequences from the distal short arm of the X chromosome. 56
3007328 1986
38
Heterogeneity of Kallmann's syndrome. 56
4042391 1985
39
Mirror movement asymmetries in congenital hemiparesis: the inhibition hypothesis revisited. 56
4010948 1985
40
Testosterone-induced fertility in a patient with previously untreated Kallmann's syndrome. 56
6411501 1983
41
HLA-compatible paternity in two "fertile eunuchs" with congenital hypogonadotropic hypogonadism and anosmia (the Kallmann syndrome). 56
6772660 1980
42
Familial Kallmann syndrome with unilateral renal aplasia. 56
1080088 1975
43
Hypogonadotropic hypogonadism with anosmia--Kallmann's syndrome. A disorder of olfactory and hypothalamic function. 56
4540668 1973
44
Hypogonadotropic hypogonadism with anosmia (Kallmann's syndrome) unresponsive to clomiphene citrate. 56
5453324 1970
45
Studies of the pituitary-Leydig cell axis in young men with hypogonadotropic hypogonadism and hyposmia: comparison with normal men, prepuberal boys, and hypopituitary patients. 56
4390462 1969
46
Familial hypogonadotropic hypogonadism with anosmia. 56
5652405 1968
47
Abnormalities of taste and olfaction in patients with chromatin negative gonadal dysgenesis. 56
6066063 1967
48
Hypogonadism and life-long anosmia. 56
5919183 1966
49
ANOS1: a unified nomenclature for Kallmann syndrome 1 gene (KAL1) and anosmin-1. 61
27899353 2017
50
Cigarette smoke modulates PC3 prostate cancer cell migration by altering adhesion molecules and the extracellular matrix. 61
26351771 2015

Variations for Hypogonadotropic Hypogonadism 1 with or Without Anosmia

ClinVar genetic disease variations for Hypogonadotropic Hypogonadism 1 with or Without Anosmia:

6 (show all 37) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ANOS1 ANOS1, 3,300-BP DELdeletion Pathogenic 10002
2 ANOS1 NM_000216.4(ANOS1):c.711G>A (p.Trp237Ter)SNV Pathogenic 10003 rs137852512 X:8555850-8555850 X:8587809-8587809
3 ANOS1 NM_000216.4(ANOS1):c.769C>T (p.Arg257Ter)SNV Pathogenic 10004 rs137852513 X:8553395-8553395 X:8585354-8585354
4 ANOS1 NM_000216.4(ANOS1):c.774G>A (p.Trp258Ter)SNV Pathogenic 10005 rs137852514 X:8553390-8553390 X:8585349-8585349
5 ANOS1 ANOS1, 1-BP DEL, PRO277FSdeletion Pathogenic 10006
6 ANOS1 ANOS1, EX3-5DELdeletion Pathogenic 10007
7 ANOS1 NM_000216.4(ANOS1):c.1540G>A (p.Glu514Lys)SNV Pathogenic 10008 rs137852515 X:8504893-8504893 X:8536852-8536852
8 ANOS1 ANOS1, EX5DELdeletion Pathogenic 10009
9 ANOS1 ANOS1, 11-BP DUP, NT158duplication Pathogenic 10010
10 ANOS1 NM_000216.4(ANOS1):c.784C>T (p.Arg262Ter)SNV Pathogenic 10011 rs137852516 X:8553380-8553380 X:8585339-8585339
11 ANOS1 ANOS1, EX3-13 DELdeletion Pathogenic 10012
12 ANOS1 NM_000216.4(ANOS1):c.1187C>T (p.Ser396Leu)SNV Pathogenic 10013 rs137852517 X:8536293-8536293 X:8568252-8568252
13 ANOS1 ANOS1, EX3-6 DELdeletion Pathogenic 10014
14 ANOS1 NM_000216.4(ANOS1):c.1062+1G>TSNV Pathogenic 10015 rs387906427 X:8538539-8538539 X:8570498-8570498
15 ANOS1 NM_000216.4(ANOS1):c.1449+2deldeletion Pathogenic 88647 rs397518425 X:8507703-8507703 X:8539662-8539662
16 ANOS1 NM_000216.4(ANOS1):c.1A>G (p.Met1Val)SNV Pathogenic 140614 rs606231409 X:8700077-8700077 X:8732036-8732036
17 ANOS1 NM_000216.4(ANOS1):c.109G>T (p.Glu37Ter)SNV Pathogenic 435540 rs1555904591 X:8699969-8699969 X:8731928-8731928
18 ANOS1 NM_000216.4(ANOS1):c.1A>T (p.Met1Leu)SNV Pathogenic 463527 rs606231409 X:8700077-8700077 X:8732036-8732036
19 ANOS1 NM_000216.4(ANOS1):c.1267C>T (p.Arg423Ter)SNV Pathogenic 488697 rs1555893221 X:8522080-8522080 X:8554039-8554039
20 ANOS1 NM_000216.4(ANOS1):c.33_34insA (p.Leu12fs)insertion Pathogenic 393472 rs1057520210 X:8700044-8700045 X:8732003-8732004
21 ANOS1 NM_000216.4(ANOS1):c.21_22CG[1] (p.Ala8fs)short repeat Pathogenic 623176 X:8700054-8700055 X:8732013-8732014
22 ANOS1 NM_000216.4(ANOS1):c.255+5G>ASNV Likely pathogenic 427743 rs773138384 X:8667734-8667734 X:8699693-8699693
23 ANOS1 NM_000216.4(ANOS1):c.422G>A (p.Ser141Asn)SNV Likely pathogenic 431157 rs932845258 X:8565194-8565194 X:8597153-8597153
24 ANOS1 NM_000216.4(ANOS1):c.1904A>C (p.Gln635Pro)SNV Likely pathogenic 375418 rs1057519418 X:8502440-8502440 X:8534399-8534399
25 ANOS1 NM_000216.4(ANOS1):c.145T>C (p.Cys49Arg)SNV Likely pathogenic 393471 rs1057520209 X:8699933-8699933 X:8731892-8731892
26 ANOS1 NM_000216.4(ANOS1):c.1449+1G>ASNV Likely pathogenic 658717 X:8507704-8507704 X:8539663-8539663
27 ANOS1 NM_000216.4(ANOS1):c.2015A>G (p.His672Arg)SNV Conflicting interpretations of pathogenicity 224350 rs199771303 X:8501064-8501064 X:8533023-8533023
28 ANOS1 NM_000216.4(ANOS1):c.1678G>A (p.Val560Ile)SNV Conflicting interpretations of pathogenicity 225397 rs2229013 X:8503796-8503796 X:8535755-8535755
29 ANOS1 NM_000216.4(ANOS1):c.404C>T (p.Pro135Leu)SNV Uncertain significance 224351 rs1057519373 X:8565212-8565212 X:8597171-8597171
30 ANOS1 NM_000216.4(ANOS1):c.1955C>A (p.Thr652Lys)SNV Uncertain significance 438710 rs776867068 X:8502389-8502389 X:8534348-8534348
31 ANOS1 NC_000023.10:g.(?_8667719)_(8700097_?)dupduplication Uncertain significance 463524 X:8699678-8732056
32 ANOS1 NC_000023.10:g.(?_8555815)_(8700097_?)dupduplication Uncertain significance 660679 X:8555815-8700097 X:8587774-8732056
33 ANOS1 NM_000216.4(ANOS1):c.158G>A (p.Cys53Tyr)SNV Uncertain significance 532309 rs1555904582 X:8699920-8699920 X:8731879-8731879
34 ANOS1 duplication Uncertain significance 560085 X:8601505-8703029
35 ANOS1 NC_000023.11:g.8553951deldeletion Uncertain significance 690385
36 ANOS1 NM_000216.4(ANOS1):c.409C>G (p.Pro137Ala)SNV Likely benign 463528 rs1043292415 X:8565207-8565207 X:8597166-8597166
37 ANOS1 NM_000216.4(ANOS1):c.1420G>A (p.Gly474Arg)SNV Likely benign 183683 rs755569301 X:8507734-8507734 X:8539693-8539693

UniProtKB/Swiss-Prot genetic disease variations for Hypogonadotropic Hypogonadism 1 with or Without Anosmia:

73 (show all 14)
# Symbol AA change Variation ID SNP ID
1 ANOS1 p.Asn267Lys VAR_007720
2 ANOS1 p.Glu514Lys VAR_012742 rs137852515
3 ANOS1 p.Cys163Tyr VAR_031012
4 ANOS1 p.Cys172Arg VAR_031013 rs139462508
5 ANOS1 p.Arg262Pro VAR_031014
6 ANOS1 p.Asn304Ser VAR_031015 rs140812865
7 ANOS1 p.Ser396Leu VAR_031016 rs137852517
8 ANOS1 p.Phe517Leu VAR_031017
9 ANOS1 p.Trp571Arg VAR_031018 rs117054361
10 ANOS1 p.Cys134Gly VAR_065362
11 ANOS1 p.Cys163Arg VAR_065363
12 ANOS1 p.Glu539Lys VAR_065364 rs144586521
13 ANOS1 p.Val587Leu VAR_069968 rs137900287
14 ANOS1 p.His672Arg VAR_072992 rs199771303

Copy number variations for Hypogonadotropic Hypogonadism 1 with or Without Anosmia from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 257179 X 1 9500000 Microdeletion Kallmann Syndrome 1

Expression for Hypogonadotropic Hypogonadism 1 with or Without Anosmia

Search GEO for disease gene expression data for Hypogonadotropic Hypogonadism 1 with or Without Anosmia.

Pathways for Hypogonadotropic Hypogonadism 1 with or Without Anosmia

GO Terms for Hypogonadotropic Hypogonadism 1 with or Without Anosmia

Sources for Hypogonadotropic Hypogonadism 1 with or Without Anosmia

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