HH1
MCID: HYP513
MIFTS: 47

Hypogonadotropic Hypogonadism 1 with or Without Anosmia (HH1)

Categories: Cardiovascular diseases, Ear diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Rare diseases, Reproductive 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 57 12 72 29 13 6
Dysplasia Olfactogenitalis of De Morsier 57 12 72 6
Kallmann Syndrome 1 57 20 72 70
Kal1 57 20 72
Hypogonadotropic Hypogonadism and Anosmia 57 72
Anosmic Hypogonadism 57 72
Kms 57 72
Hh1 57 72
Hha 57 72
Hypogonadism, Hypogonadotropic, Type 1, with/without Anosmia ) 39
Hypogonadotropic Hypogonadism and Anosmia; Hha 57
Kallmann Syndrome, Type 1, X-Linked 20
Kallmann Syndrome, X-Linked 20
Kallmann Syndrome 1; Kal1 57
Kallmann Syndrome 70

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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® 57 308700
OMIM Phenotypic Series 57 PS147950
MeSH 44 D017436
ICD10 32 E23.0
MedGen 41 C1563719
UMLS 70 C0162809 C1563719

Summaries for Hypogonadotropic Hypogonadism 1 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.' For information on the autosomal forms of hypogonadotropic hypogonadism with or without anosmia, see 147950. (308700) (Updated 05-Apr-2021)

MalaCards based summary : Hypogonadotropic Hypogonadism 1 with or Without Anosmia, also known as dysplasia olfactogenitalis of de morsier, is related to hypogonadotropic hypogonadism and hypogonadism. An important gene associated with Hypogonadotropic Hypogonadism 1 with or Without Anosmia is ANOS1 (Anosmin 1), and among its related pathways/superpathways are Negative regulation of FGFR3 signaling and Signaling by FGFR2. The drugs Zinc and Menotropins have been mentioned in the context of this disorder. Affiliated tissues include pituitary, eye and testes, 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.

GARD : 20 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 : 72 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 78)
# Related Disease Score Top Affiliating Genes
1 hypogonadotropic hypogonadism 29.9 FGFR1 ANOS1
2 hypogonadism 29.9 FGFR1 ANOS1
3 renal hypodysplasia/aplasia 1 29.9 FGFR1 ANOS1
4 hypogonadotropic hypogonadism 7 with or without anosmia 29.9 FGFR1 ANOS1
5 cryptorchidism, unilateral or bilateral 29.8 FGFR1 ANOS1
6 congenital hypogonadotropic hypogonadism 29.6 FGFR1 ANOS1
7 kallmann syndrome 29.6 FGFR1 ANOS1
8 normosmic congenital hypogonadotropic hypogonadism 29.6 FGFR1 ANOS1
9 sensorineural hearing loss 29.5 FGFR1 ANOS1
10 septooptic dysplasia 29.3 FGFR1 ANOS1
11 kabuki syndrome 1 11.5
12 hemangioma-thrombocytopenia syndrome 11.1
13 isolated gonadotropin-releasing hormone deficiency 10.2
14 cleft palate, isolated 10.2
15 hypogonadotropic hypogonadism 2 with or without anosmia 10.2
16 branchiootic syndrome 1 10.2
17 duane retraction syndrome 1 10.2
18 mirror movements 1 10.2
19 hypogonadotropic hypogonadism 23 without anosmia 10.2
20 carbonic anhydrase va deficiency, hyperammonemia due to 10.2
21 myeloma, multiple 10.1
22 cleft lip 10.1
23 cleft lip/palate 10.1
24 pyloric stenosis 10.1
25 hartsfield syndrome 10.0
26 ichthyosis 10.0
27 hypopituitarism 10.0
28 penis agenesis 10.0
29 hepatocellular carcinoma 9.9
30 oral squamous cell carcinoma 9.9
31 squamous cell carcinoma 9.9
32 oral cancer 9.9
33 glioblastoma 9.9
34 congestive heart failure 9.9
35 leukemia, chronic lymphocytic 9.9
36 lymphoma, hodgkin, classic 9.9
37 pancreatic cancer 9.9
38 lymphoma, non-hodgkin, familial 9.9
39 lung cancer susceptibility 3 9.9
40 pancreatic ductal adenocarcinoma 9.9
41 end stage renal disease 9.9
42 hemophilia b 9.9
43 gallbladder disease 1 9.9
44 helix syndrome 9.9
45 chronic ulcer of skin 9.9
46 salmonellosis 9.9
47 filariasis 9.9
48 cholecystolithiasis 9.9
49 filarial elephantiasis 9.9
50 hemolytic-uremic syndrome 9.9

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 micropenis 31 HP:0000054
6 anosmia 31 HP:0000458
7 azoospermia 31 HP:0000027
8 pes cavus 31 HP:0001761
9 testicular atrophy 31 HP:0000029
10 gynecomastia 31 HP:0000771
11 decreased testicular size 31 HP:0008734
12 hyposmia 31 HP:0004409
13 unilateral renal agenesis 31 HP:0000122
14 sparse pubic hair 31 HP:0002225
15 olfactory lobe agenesis 31 HP:0001341
16 bimanual synkinesia 31 HP:0001335
17 eunuchoid habitus 31 HP:0003782
18 decreased circulating follicle stimulating hormone level 31 HP:0030341
19 decreased circulating luteinizing hormone level 31 HP:0030344
20 hypogonadotropic hypogonadism 31 HP:0000044
21 leydig cell insensitivity to gonadotropin 31 HP:0002929
22 hypothalamic gonadotropin-releasing hormone deficiency 31 HP:0003164

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

GenomeRNAi Phenotypes related to Hypogonadotropic Hypogonadism 1 with or Without Anosmia according to GeneCards Suite gene sharing:

26 (show all 15)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.83 FGFR1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-12 9.83 ANOS1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-125 9.83 FGFR1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.83 ANOS1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.83 FGFR1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-172 9.83 ANOS1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-182 9.83 ANOS1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-183 9.83 FGFR1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-26 9.83 FGFR1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.83 ANOS1 FGFR1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.83 FGFR1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.83 FGFR1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-77 9.83 ANOS1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-78 9.83 ANOS1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-83 9.83 FGFR1

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 35)
# 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 Follicle Stimulating Hormone Phase 4
4 Chorionic Gonadotropin Phase 4
5
Testosterone Approved, Investigational Phase 2 58-22-0 6013
6 Hormone Antagonists Phase 2
7
Methyltestosterone Approved Phase 1 58-18-4 6010
8
Testosterone undecanoate Approved, Investigational Phase 1 5949-44-0
9
Testosterone enanthate Approved Phase 1 315-37-7 9416
10
Anastrozole Approved, Investigational Phase 1 120511-73-1 2187
11 Hormones Phase 1
12 Testosterone 17 beta-cypionate Phase 1
13 Androgens Phase 1
14 Estrogens Phase 1
15 insulin Phase 1
16 Antineoplastic Agents, Hormonal Phase 1
17 Estrogen Receptor Antagonists Phase 1
18 Estrogen Antagonists Phase 1
19 Insulin, Globin Zinc Phase 1
20 Aromatase Inhibitors Phase 1
21
Clotrimazole Approved, Vet_approved 23593-75-1 2812
22
Miconazole Approved, Investigational, Vet_approved 22916-47-8 4189
23
Ketoconazole Approved, Investigational 65277-42-1 47576
24
Polyestradiol phosphate Approved 28014-46-2
25
Estradiol Approved, Investigational, Vet_approved 50-28-2 5757
26
Estrone Approved 53-16-7 5870
27 Cytochrome P-450 CYP3A Inhibitors
28 Cytochrome P-450 Enzyme Inhibitors
29 Anti-Infective Agents
30 Antifungal Agents
31 Estradiol 3-benzoate
32 Estradiol 17 beta-cypionate
33 Trisequens
34 Estropipate 7280-37-7
35 Drospirenone and ethinyl estradiol combination

Interventional clinical trials:

(show all 18)
# 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 Recruiting NCT03687606 Phase 4 Human Chorionic Gonadotropin;human menopausal gonadotropin
4 Pulsatile GnRH in Anovulatory Infertility Unknown status 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 Baselines in Reproductive Disorders Unknown status NCT00456274
10 Feedback Control of FSH Secretion in the Human Male Completed NCT00392457 ketoconazole;gonadotropin releasing hormone (GnRH)
11 Factors Affecting Health Promoting Behavior in Rare Disease Patients: A Mixed Methods Study of Men With Congenital Hypogonadotropic Hypogonadism (CHH) Completed NCT01914172
12 Role of Gonadotropin Pulsations in the Reversal of Hypogonadotropic Hypogonadism Recruiting NCT00392756 gonadotropin releasing hormone (GnRH)
13 The Genetics of Neuroendocrine Reproductive Disorders and of the Cleft Lip and/or Palate Recruiting NCT01601171
14 Molecular Basis of Inherited Reproductive Disorders Recruiting NCT00494169
15 Patient and Healthcare Professional Views on Genetic/Genomic Information and Testing Recruiting NCT04733274
16 GROWing Up With Rare GENEtic Syndromes ….When Children With Complex Genetic Syndromes Reach Adult Age Recruiting NCT04463316
17 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)
18 Kallmann Syndrome in Finland Enrolling by invitation NCT00623116 Short withdrawal of testosterone, gonadotropins or estrogenic compounds (see below)

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 Hypogonadotropic Hypogonadism 1 with or Without Anosmia (kallmann Syndrome 1) 29 ANOS1

Anatomical Context for Hypogonadotropic Hypogonadism 1 with or Without Anosmia

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

40
Pituitary, Eye, Testes, Kidney, Prostate

Publications for Hypogonadotropic Hypogonadism 1 with or Without Anosmia

Articles related to Hypogonadotropic Hypogonadism 1 with or Without Anosmia:

(show top 50) (show all 67)
# Title Authors PMID Year
1
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. 6 57 61
15001591 2004
2
Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2. 6 57
17054399 2006
3
Novel fibroblast growth factor receptor 1 mutations in patients with congenital hypogonadotropic hypogonadism with and without anosmia. 6 57
16882753 2006
4
X chromosome-linked Kallmann syndrome: clinical heterogeneity in three siblings carrying an intragenic deletion of the KAL-1 gene. 57 6
12727945 2003
5
The importance of autosomal genes in Kallmann syndrome: genotype-phenotype correlations and neuroendocrine characteristics. 6 57
11297579 2001
6
Contiguous gene syndrome due to deletion of the first three exons of the Kallmann gene and complete deletion of the steroid sulphatase gene. 6 57
9713559 1998
7
Heterogeneity in the mutations responsible for X chromosome-linked Kallmann syndrome. 57 6
8504298 1993
8
X chromosome-linked Kallmann syndrome: stop mutations validate the candidate gene. 6 57
1518845 1992
9
Brief report: intragenic deletion of the KALIG-1 gene in Kallmann's syndrome. 6 57
1594017 1992
10
A genetic basis for functional hypothalamic amenorrhea. 61 57
21247312 2011
11
Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract. 6
28566479 2017
12
Diagnostic Application of Targeted Next-Generation Sequencing of 80 Genes Associated with Disorders of Sexual Development. 6
28295047 2017
13
Spectrum of phenotype and genotype of congenital isolated hypogonadotropic hypogonadism in Asian Indians. 6
26708526 2016
14
Clinical characteristics and follow-up of 5 young Chinese males with gonadotropin-releasing hormone deficiency caused by mutations in the KAL1 gene. 6
26862482 2016
15
The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients. 6
25077900 2014
16
Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing. 6
23849776 2013
17
Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism. 6
23643382 2013
18
Prioritizing genetic testing in patients with Kallmann syndrome using clinical phenotypes. 6
23533228 2013
19
The prevalence of digenic mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome. 6
22035731 2011
20
Large deletion in the KAL1 gene in two related patients with hypogonadotropic hypogonadism: diagnostic usefulness of cytogenetic and molecular methods. 6
21717404 2011
21
Clues to an early diagnosis of Kallmann syndrome. 57
20949504 2010
22
Kallmann's syndrome: a comparison of the reproductive phenotypes in men carrying KAL1 and FGFR1/KAL2 mutations. 57
18160472 2008
23
Reversal of idiopathic hypogonadotropic hypogonadism. 57
17761590 2007
24
Kallmann syndrome: 14 novel mutations in KAL1 and FGFR1 (KAL2). 6
15605412 2005
25
Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. 57
12627230 2003
26
Identification of three novel mutations in the KAL1 gene in patients with Kallmann syndrome. 6
12050219 2002
27
A novel nonsense mutation of the KAL gene in two brothers with Kallmann syndrome. 6
11044805 2000
28
A novel interstitial deletion of KAL1 in a Japanese family with Kallmann syndrome. 57
10944855 2000
29
Kallmann's syndrome: mirror movements associated with bilateral corticospinal tract hypertrophy. 57
10078733 1999
30
A recurrent missense mutation in the KAL gene in patients with X-linked Kallmann's syndrome. 6
9589672 1998
31
Genetic heterogeneity evidenced by low incidence of KAL-1 gene mutations in sporadic cases of gonadotropin-releasing hormone deficiency. 57
8989261 1997
32
The neuroradiology of Kallmann's syndrome: a genotypic and phenotypic analysis. 57
8768867 1996
33
Variable penetrance of hypogonadism in a sibship with Kallmann syndrome due to a deletion of the KAL gene. 57
7677154 1995
34
Unilateral renal aplasia in X-linked Kallmann's syndrome. 57
7820942 1994
35
Diagnosis of X-recessive Kallmann syndrome in early infancy. Evidence of hypoplastic rhinencephalon. 57
8194555 1994
36
X-chromosome-linked Kallmann's syndrome: pathology at the molecular level. 57
8473390 1993
37
Kallmann syndrome due to a translocation resulting in an X/Y fusion gene. 57
1302031 1992
38
Sequence analysis of a partial deletion of the human steroid sulfatase gene reveals 3 bp of homology at deletion breakpoints. 6
1639422 1992
39
Nonhomologous recombination in the human genome: deletions in the human factor VIII gene. 6
1904396 1991
40
Definitive localization of X-linked Kallman syndrome (hypogonadotropic hypogonadism and anosmia) to Xp22.3: close linkage to the hypervariable repeat sequence CRI-S232. 57
1977309 1990
41
Long-range restriction map of the terminal part of the short arm of the human X chromosome. 57
2339111 1990
42
Identical twins discordant for Kallmann's syndrome. 57
2325096 1990
43
Luteinizing hormone-releasing hormone (LHRH)-expressing cells do not migrate normally in an inherited hypogonadal (Kallmann) syndrome. 57
2687610 1989
44
Evidence that cells expressing luteinizing hormone-releasing hormone mRNA in the mouse are derived from progenitor cells in the olfactory placode. 57
2682637 1989
45
Male infant with ichthyosis, Kallmann syndrome, chondrodysplasia punctata, and an Xp chromosome deletion. 57
2750777 1989
46
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. 57
3312278 1987
47
Estimating frequency of Kallmann syndrome among hypogonadic and among anosmic patients. 57
3101500 1987
48
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. 57
3007328 1986
49
Heterogeneity of Kallmann's syndrome. 57
4042391 1985
50
Mirror movement asymmetries in congenital hemiparesis: the inhibition hypothesis revisited. 57
4010948 1985

Variations for Hypogonadotropic Hypogonadism 1 with or Without Anosmia

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

6 (show top 50) (show all 84)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ANOS1 ANOS1, 3,300-BP DEL Deletion Pathogenic 10002 GRCh37:
GRCh38:
2 ANOS1 NM_000216.4(ANOS1):c.711G>A (p.Trp237Ter) SNV Pathogenic 10003 rs137852512 GRCh37: X:8555850-8555850
GRCh38: X:8587809-8587809
3 ANOS1 NM_000216.4(ANOS1):c.769C>T (p.Arg257Ter) SNV Pathogenic 10004 rs137852513 GRCh37: X:8553395-8553395
GRCh38: X:8585354-8585354
4 ANOS1 NM_000216.4(ANOS1):c.774G>A (p.Trp258Ter) SNV Pathogenic 10005 rs137852514 GRCh37: X:8553390-8553390
GRCh38: X:8585349-8585349
5 ANOS1 ANOS1, 1-BP DEL, PRO277FS Deletion Pathogenic 10006 GRCh37:
GRCh38:
6 ANOS1 ANOS1, EX3-5DEL Deletion Pathogenic 10007 GRCh37:
GRCh38:
7 ANOS1 NM_000216.4(ANOS1):c.1540G>A (p.Glu514Lys) SNV Pathogenic 10008 rs137852515 GRCh37: X:8504893-8504893
GRCh38: X:8536852-8536852
8 ANOS1 ANOS1, EX5DEL Deletion Pathogenic 10009 GRCh37:
GRCh38:
9 ANOS1 ANOS1, 11-BP DUP, NT158 Duplication Pathogenic 10010 GRCh37:
GRCh38:
10 ANOS1 NM_000216.4(ANOS1):c.784C>T (p.Arg262Ter) SNV Pathogenic 10011 rs137852516 GRCh37: X:8553380-8553380
GRCh38: X:8585339-8585339
11 ANOS1 ANOS1, EX3-13 DEL Deletion Pathogenic 10012 GRCh37:
GRCh38:
12 ANOS1 NM_000216.4(ANOS1):c.1187C>T (p.Ser396Leu) SNV Pathogenic 10013 rs137852517 GRCh37: X:8536293-8536293
GRCh38: X:8568252-8568252
13 ANOS1 ANOS1, EX3-6 DEL Deletion Pathogenic 10014 GRCh37:
GRCh38:
14 ANOS1 NM_000216.4(ANOS1):c.1062+1G>T SNV Pathogenic 10015 rs387906427 GRCh37: X:8538539-8538539
GRCh38: X:8570498-8570498
15 ANOS1 NM_000216.4(ANOS1):c.1449+2del Deletion Pathogenic 88647 rs397518425 GRCh37: X:8507703-8507703
GRCh38: X:8539662-8539662
16 ANOS1 NM_000216.4(ANOS1):c.1A>G (p.Met1Val) SNV Pathogenic 140614 rs606231409 GRCh37: X:8700077-8700077
GRCh38: X:8732036-8732036
17 ANOS1 NM_000216.4(ANOS1):c.33_34insA (p.Leu12fs) Insertion Pathogenic 393472 rs1057520210 GRCh37: X:8700044-8700045
GRCh38: X:8732003-8732004
18 ANOS1 NM_000216.4(ANOS1):c.109G>T (p.Glu37Ter) SNV Pathogenic 435540 rs1555904591 GRCh37: X:8699969-8699969
GRCh38: X:8731928-8731928
19 ANOS1 NM_000216.4(ANOS1):c.1A>T (p.Met1Leu) SNV Pathogenic 463527 rs606231409 GRCh37: X:8700077-8700077
GRCh38: X:8732036-8732036
20 ANOS1 NM_000216.4(ANOS1):c.21_22CG[1] (p.Ala8fs) Microsatellite Pathogenic 623176 rs1602050730 GRCh37: X:8700054-8700055
GRCh38: X:8732013-8732014
21 ANOS1 NM_000216.4(ANOS1):c.773G>A (p.Trp258Ter) SNV Pathogenic 692191 rs1601965037 GRCh37: X:8553391-8553391
GRCh38: X:8585350-8585350
22 ANOS1 NC_000023.11:g.(?_8532975)_(8597276_?)del Deletion Pathogenic 833273 GRCh37: X:8501016-8565317
GRCh38:
23 ANOS1 NM_000216.4(ANOS1):c.1267C>T (p.Arg423Ter) SNV Pathogenic 488697 rs1555893221 GRCh37: X:8522080-8522080
GRCh38: X:8554039-8554039
24 ANOS1 NM_000216.4(ANOS1):c.1539del (p.Glu514fs) Deletion Pathogenic 975937 GRCh37: X:8504894-8504894
GRCh38: X:8536853-8536853
25 ANOS1 NM_000216.4(ANOS1):c.1891C>T (p.Arg631Ter) SNV Pathogenic 265206 rs886039395 GRCh37: X:8502453-8502453
GRCh38: X:8534412-8534412
26 FGFR1 Deletion Pathogenic 635961 GRCh37: 8:38320755-38328265
GRCh38: 8:38463237-38470747
27 ANOS1 NM_000216.4(ANOS1):c.171_174dup (p.Thr59fs) Duplication Likely pathogenic 975878 GRCh37: X:8699903-8699904
GRCh38: X:8731862-8731863
28 ANOS1 NM_000216.4(ANOS1):c.313del (p.Cys105fs) Deletion Likely pathogenic 692193 rs1601988004 GRCh37: X:8591654-8591654
GRCh38: X:8623613-8623613
29 ANOS1 NC_000023.11:g.(?_8553932)_(8597276_?)dup Duplication Likely pathogenic 831268 GRCh37: X:8521973-8565317
GRCh38:
30 ANOS1 NM_000216.4(ANOS1):c.1449+1G>A SNV Likely pathogenic 658717 rs1601946139 GRCh37: X:8507704-8507704
GRCh38: X:8539663-8539663
31 ANOS1 NM_000216.4(ANOS1):c.255+5G>A SNV Likely pathogenic 427743 rs773138384 GRCh37: X:8667734-8667734
GRCh38: X:8699693-8699693
32 ANOS1 NM_000216.4(ANOS1):c.422G>A (p.Ser141Asn) SNV Likely pathogenic 431157 rs932845258 GRCh37: X:8565194-8565194
GRCh38: X:8597153-8597153
33 ANOS1 NM_000216.4(ANOS1):c.145T>C (p.Cys49Arg) SNV Likely pathogenic 393471 rs1057520209 GRCh37: X:8699933-8699933
GRCh38: X:8731892-8731892
34 ANOS1 NM_000216.4(ANOS1):c.1904A>C (p.Gln635Pro) SNV Likely pathogenic 375418 rs1057519418 GRCh37: X:8502440-8502440
GRCh38: X:8534399-8534399
35 ANOS1 NM_000216.4(ANOS1):c.2015A>G (p.His672Arg) SNV Conflicting interpretations of pathogenicity 224350 rs199771303 GRCh37: X:8501064-8501064
GRCh38: X:8533023-8533023
36 ANOS1 NM_000216.4(ANOS1):c.158G>A (p.Cys53Tyr) SNV Uncertain significance 532309 rs1555904582 GRCh37: X:8699920-8699920
GRCh38: X:8731879-8731879
37 ANOS1 Duplication Uncertain significance 560085 GRCh37: X:8601505-8703029
GRCh38:
38 SRA1 NM_001035235.3(SRA1):c.377G>A (p.Arg126His) SNV Uncertain significance 638187 rs1306465994 GRCh37: 5:139931580-139931580
GRCh38: 5:140551995-140551995
39 ANOS1 NM_000216.4(ANOS1):c.404C>T (p.Pro135Leu) SNV Uncertain significance 224351 rs1057519373 GRCh37: X:8565212-8565212
GRCh38: X:8597171-8597171
40 ANOS1 NM_000216.4(ANOS1):c.1678G>A (p.Val560Ile) SNV Uncertain significance 225397 rs2229013 GRCh37: X:8503796-8503796
GRCh38: X:8535755-8535755
41 ANOS1 NM_000216.4(ANOS1):c.1955C>A (p.Thr652Lys) SNV Uncertain significance 438710 rs776867068 GRCh37: X:8502389-8502389
GRCh38: X:8534348-8534348
42 ANOS1 NC_000023.10:g.(?_8555815)_(8700097_?)dup Duplication Uncertain significance 660679 GRCh37: X:8555815-8700097
GRCh38: X:8587774-8732056
43 ANOS1 NM_000216.4(ANOS1):c.1354+1del Deletion Uncertain significance 690385 rs764687970 GRCh37: X:8521992-8521992
GRCh38: X:8553951-8553951
44 ANOS1 NC_000023.10:g.(?_8667719)_(8700097_?)dup Duplication Uncertain significance 463524 GRCh37:
GRCh38: X:8699678-8732056
45 CHD7 NM_017780.4(CHD7):c.-466delinsGGCGGCGGCGGCAGCG Indel Uncertain significance 363427 rs886063026 GRCh37: 8:61591350-61591350
GRCh38: 8:60678791-60678791
46 CHD7 NM_017780.4(CHD7):c.-490_-488GGC[10] Microsatellite Uncertain significance 363418 rs886063023 GRCh37: 8:61591323-61591324
GRCh38: 8:60678764-60678765
47 CHD7 NM_017780.4(CHD7):c.892A>G (p.Thr298Ala) SNV Uncertain significance 363444 rs886063033 GRCh37: 8:61654883-61654883
GRCh38: 8:60742324-60742324
48 CHD7 NM_017780.4(CHD7):c.8960_8962del (p.Gly2987del) Deletion Uncertain significance 363488 rs771806027 GRCh37: 8:61778454-61778456
GRCh38: 8:60865895-60865897
49 CHD7 NM_017780.4(CHD7):c.-466delinsGGCGGCGGCGGCGGCGGCGGCGGCG Indel Uncertain significance 363431 rs886063026 GRCh37: 8:61591350-61591350
GRCh38: 8:60678791-60678791
50 CHD7 NM_017780.4(CHD7):c.3222C>T (p.Ser1074=) SNV Uncertain significance 363458 rs199675568 GRCh37: 8:61736419-61736419
GRCh38: 8:60823860-60823860

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

72 (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

Biological processes related to Hypogonadotropic Hypogonadism 1 with or Without Anosmia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 fibroblast growth factor receptor signaling pathway GO:0008543 8.62 FGFR1 ANOS1

Molecular functions related to Hypogonadotropic Hypogonadism 1 with or Without Anosmia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 heparin binding GO:0008201 8.62 FGFR1 ANOS1

Sources for Hypogonadotropic Hypogonadism 1 with or Without Anosmia

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