MCID: KLL001
MIFTS: 63

Kallmann Syndrome

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

Aliases & Classifications for Kallmann Syndrome

MalaCards integrated aliases for Kallmann Syndrome:

Name: Kallmann Syndrome 12 53 25 59 55 44 15 40 40 73
Hypogonadism with Anosmia 12 25 29 6
Anosmic Idiopathic Hypogonadotropic Hypogonadism 53 25
Hypogonadotropic Hypogonadism-Anosmia Syndrome 53 25
Hypogonadotropic Hypogonadism and Anosmia 53 25
Olfacto-Genital Pathological Sequence 53 59
Anosmic Hypogonadism 53 25
Kallman's Syndrome 12 25
Congenital Hypogonadotropic Hypogonadism with Anosmia 59
Familial Hypogonadism with Anosmia 12
Kallmann's Syndrome 53
Kallman Syndrome 12

Characteristics:

Orphanet epidemiological data:

59
kallmann syndrome
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Childhood; Age of death: normal life expectancy;

Classifications:



Summaries for Kallmann Syndrome

NIH Rare Diseases : 53 Kallmann syndrome (KS) is a condition that causes hypogonadotropic hypogonadism (HH) and an impaired sense of smell. HH affects the production of the hormones needed for sexual development. It is present from birth and is due to deficiency of gonadotropin-releasing hormone (GnRH). KS is often diagnosed at puberty due to lack of sexual development. It may first be suspected in infancy in males with undescended testicles or a small penis. Symptoms in untreated, adult males may include decreased bone density and muscle mass; small testicles; erectile dysfunction; low sex drive; and infertility. Untreated adult females with KS usually do not have menstrual periods (amenorrhea) and normal, little, or no breast development. Rarely, a person with KS will have failure of kidney development (renal agenesis); hearing impairment; cleft lip or palate; and/or dental abnormalities. Most cases of KS are sporadic (not inherited) but some cases are inherited. The mode of inheritance depends on the gene involved. Treatment includes hormone replacement therapy for sexual development. Fertility can be achieved in most cases. When the features of Kallmann syndrome are not accompanied by impaired sense of smell, the condition is referred to as idiopathic or isolated hypogonadotropic hypogonadism, or normosmic isolated GnRH deficiency (IGD).

MalaCards based summary : Kallmann Syndrome, also known as hypogonadism with anosmia, is related to hypogonadotropic hypogonadism 7 with or without anosmia and anosmia. An important gene associated with Kallmann Syndrome is ANOS1 (Anosmin 1), and among its related pathways/superpathways are Negative regulation of FGFR3 signaling and Neural Crest Differentiation. The drugs Zinc and Menotropins have been mentioned in the context of this disorder. Affiliated tissues include bone, kidney and olfactory bulb, and related phenotypes are cryptorchidism and hypogonadotrophic hypogonadism

Genetics Home Reference : 25 Kallmann syndrome is a condition characterized by delayed or absent puberty and an impaired sense of smell.

Disease Ontology : 12 A hypogonadotropic hypogonadism with a defective sense of smell (anosmia or hyposmia).

Wikipedia : 76 Kallmann syndrome (KS) is a genetic disorder that prevents a person from starting or fully completing... more...

Related Diseases for Kallmann Syndrome

Diseases in the Kallmann Syndrome family:

Kallmann Syndrome 3 Kallmann Syndrome 4
Kallmann Syndrome 5 Kallmann Syndrome 6

Diseases related to Kallmann Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 93)
# Related Disease Score Top Affiliating Genes
1 hypogonadotropic hypogonadism 7 with or without anosmia 32.5 CCDC141 FEZF1 FGF17 FLRT3 IL17RD SPRY4
2 anosmia 31.2 ANOS1 FEZF1 FGF17 FGFR1 PROKR2 SPRY4
3 hypogonadotropic hypogonadism 31.0 ANOS1 CHD7 FGF17 FGF8 FGFR1 KISS1R
4 charge syndrome 31.0 ANOS1 CHD7 FGF8 FGFR1 PROK2 PROKR2
5 hypogonadism 30.9 ANOS1 CHD7 FGF17 FGF8 FGFR1 HS6ST1
6 normosmic congenital hypogonadotropic hypogonadism 30.2 ANOS1 CHD7 FGF17 FGF8 FGFR1 HS6ST1
7 kallmann syndrome with spastic paraplegia 12.2
8 hypogonadotropic hypogonadism 1 with or without anosmia 12.0
9 kallmann syndrome 3 12.0
10 kallmann syndrome 4 12.0
11 kallmann syndrome 5 12.0
12 kallmann syndrome 6 12.0
13 brachytelephalangy with characteristic facies and kallmann syndrome 11.9
14 kallmann syndrome-heart disease syndrome 11.8
15 hypogonadotropic hypogonadism 2 with or without anosmia 11.7
16 hypogonadotropic hypogonadism 3 with or without anosmia 11.6
17 hypogonadotropic hypogonadism 4 with or without anosmia 11.6
18 hypogonadotropic hypogonadism 5 with or without anosmia 11.6
19 hypogonadotropic hypogonadism 6 with or without anosmia 11.6
20 waardenburg syndrome, type 2e 11.4
21 septooptic dysplasia 11.2
22 hypogonadotropic hypogonadism 8 with or without anosmia 11.0
23 hypogonadotropic hypogonadism 9 with or without anosmia 11.0
24 hypogonadotropic hypogonadism 10 with or without anosmia 11.0
25 hypogonadotropic hypogonadism 11 with or without anosmia 11.0
26 hypogonadotropic hypogonadism 12 with or without anosmia 11.0
27 hypogonadotropic hypogonadism 13 with or without anosmia 11.0
28 hypogonadotropic hypogonadism 14 with or without anosmia 11.0
29 hypogonadotropic hypogonadism 15 with or without anosmia 11.0
30 hypogonadotropic hypogonadism 16 with or without anosmia 11.0
31 hypogonadotropic hypogonadism 17 with or without anosmia 11.0
32 hypogonadotropic hypogonadism 18 with or without anosmia 11.0
33 hypogonadotropic hypogonadism 19 with or without anosmia 11.0
34 hypogonadotropic hypogonadism 20 with or without anosmia 11.0
35 hypogonadotropic hypogonadism 21 with or without anosmia 11.0
36 hypogonadotropic hypogonadism 22 with or without anosmia 11.0
37 hartsfield syndrome 10.9 FGF8 FGFR1
38 septo-optic dysplasia spectrum 10.8
39 anosmia, isolated congenital 10.8
40 hypogonadism, male 10.8
41 xp22.3 microdeletion syndrome 10.8
42 gonadal disease 10.8 ANOS1 KISS1R PROK2 PROKR2
43 cryptorchidism, unilateral or bilateral 10.8 ANOS1 CHD7 FGFR1 PROK2 PROKR2
44 idiopathic central precocious puberty 10.8 KISS1R TACR3
45 pituitary stalk interruption syndrome 10.7 HESX1 PROKR2 WDR11
46 lobar holoprosencephaly 10.7 FGF8 FGFR1
47 microform holoprosencephaly 10.4 FGF8 FGFR1
48 hypogonadotropism 10.4
49 neuronitis 10.2
50 ichthyosis 10.2

Graphical network of the top 20 diseases related to Kallmann Syndrome:



Diseases related to Kallmann Syndrome

Symptoms & Phenotypes for Kallmann Syndrome

Human phenotypes related to Kallmann Syndrome:

59 32 (show all 46)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cryptorchidism 59 32 frequent (33%) Frequent (79-30%) HP:0000028
2 hypogonadotrophic hypogonadism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000044
3 micropenis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000054
4 renal agenesis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000104
5 decreased fertility 59 32 hallmark (90%) Very frequent (99-80%) HP:0000144
6 cleft palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000175
7 sensorineural hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000407
8 anosmia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000458
9 visual impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000505
10 ptosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000508
11 abnormality of color vision 59 32 occasional (7.5%) Occasional (29-5%) HP:0000551
12 nystagmus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000639
13 gynecomastia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000771
14 primary amenorrhea 59 32 occasional (7.5%) Occasional (29-5%) HP:0000786
15 delayed puberty 59 32 hallmark (90%) Very frequent (99-80%) HP:0000823
16 anterior hypopituitarism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000830
17 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
18 ataxia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001251
19 muscular hypotonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001252
20 dysarthria 59 32 occasional (7.5%) Occasional (29-5%) HP:0001260
21 gait disturbance 59 32 occasional (7.5%) Occasional (29-5%) HP:0001288
22 muscle weakness 59 32 occasional (7.5%) Occasional (29-5%) HP:0001324
23 bimanual synkinesia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001335
24 tremor 59 32 occasional (7.5%) Occasional (29-5%) HP:0001337
25 obesity 59 32 occasional (7.5%) Occasional (29-5%) HP:0001513
26 abnormality of the voice 59 32 frequent (33%) Frequent (79-30%) HP:0001608
27 pes cavus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001761
28 pes planus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001763
29 skeletal dysplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002652
30 delayed skeletal maturation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002750
31 recurrent fractures 59 32 occasional (7.5%) Occasional (29-5%) HP:0002757
32 breast hypoplasia 59 32 frequent (33%) Frequent (79-30%) HP:0003187
33 reduced bone mineral density 59 32 frequent (33%) Frequent (79-30%) HP:0004349
34 hyposmia 59 32 hallmark (90%) Very frequent (99-80%) HP:0004409
35 ichthyosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0008064
36 decreased testicular size 59 32 hallmark (90%) Very frequent (99-80%) HP:0008734
37 reduced number of teeth 59 32 occasional (7.5%) Occasional (29-5%) HP:0009804
38 paraplegia 59 32 occasional (7.5%) Occasional (29-5%) HP:0010550
39 dyspareunia 59 32 occasional (7.5%) Occasional (29-5%) HP:0030016
40 erectile abnormalities 59 32 hallmark (90%) Very frequent (99-80%) HP:0100639
41 abnormality of female internal genitalia 59 Occasional (29-5%)
42 malformation of the heart and great vessels 59 Occasional (29-5%)
43 hypothalamic gonadotropin-releasing hormone (gnrh) deficiency 59 Very frequent (99-80%)
44 hypoplasia of penis 59 Very frequent (99-80%)
45 hypothalamic gonadotropin-releasing hormone deficiency 32 hallmark (90%) HP:0003164
46 abnormality of cardiovascular system morphology 32 occasional (7.5%) HP:0030680

GenomeRNAi Phenotypes related to Kallmann Syndrome according to GeneCards Suite gene sharing:

26 (show all 23)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-101 9.83 FGF8
2 Increased shRNA abundance (Z-score > 2) GR00366-A-102 9.83 FGF17
3 Increased shRNA abundance (Z-score > 2) GR00366-A-103 9.83 SOX10
4 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.83 SOX10 SPRY4
5 Increased shRNA abundance (Z-score > 2) GR00366-A-128 9.83 FGF8
6 Increased shRNA abundance (Z-score > 2) GR00366-A-140 9.83 FGF8
7 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.83 SPRY4
8 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.83 SOX10 FGF17
9 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.83 SPRY4
10 Increased shRNA abundance (Z-score > 2) GR00366-A-205 9.83 FGF8
11 Increased shRNA abundance (Z-score > 2) GR00366-A-21 9.83 SPRY4
12 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.83 FGF17
13 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.83 FGF8 SOX10
14 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.83 FGF8
15 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.83 FGF8 SOX10 SPRY4 FGF17
16 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.83 SPRY4
17 Increased shRNA abundance (Z-score > 2) GR00366-A-54 9.83 SPRY4 FGF17
18 Increased shRNA abundance (Z-score > 2) GR00366-A-57 9.83 FGF8
19 Increased shRNA abundance (Z-score > 2) GR00366-A-7 9.83 SOX10
20 Increased shRNA abundance (Z-score > 2) GR00366-A-70 9.83 SOX10 SPRY4
21 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.83 SOX10
22 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.83 SOX10 FGF8
23 Increased shRNA abundance (Z-score > 2) GR00366-A-92 9.83 FGF17

MGI Mouse Phenotypes related to Kallmann Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.21 FLRT3 FEZF1 HESX1 HS6ST1 FGF8 CCDC141
2 behavior/neurological MP:0005386 10.2 CHD7 FEZF1 FGF17 FGF8 CCDC141 FGFR1
3 cellular MP:0005384 10.17 FGFR1 CHD7 FLRT3 FEZF1 HS6ST1 FGF8
4 endocrine/exocrine gland MP:0005379 10.1 CHD7 HESX1 HS6ST1 FGF8 FGFR1 TACR3
5 mortality/aging MP:0010768 10.07 CHD7 FLRT3 FEZF1 HESX1 HS6ST1 FGF8
6 nervous system MP:0003631 10.06 FLRT3 FEZF1 HESX1 FGF17 FGF8 IL17RD
7 limbs/digits/tail MP:0005371 9.8 FGFR1 CHD7 HS6ST1 FGF8 SOX10 SPRY4
8 reproductive system MP:0005389 9.56 FGFR1 CHD7 FGF8 CCDC141 NSMF TACR3
9 respiratory system MP:0005388 9.23 CHD7 FEZF1 HESX1 HS6ST1 FGF8 SEMA3A

Drugs & Therapeutics for Kallmann Syndrome

Drugs for Kallmann Syndrome (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 23994
2
Menotropins Approved Phase 4 61489-71-2, 9002-68-0 5360545
3 Chorionic Gonadotropin Phase 4,Not Applicable
4 Follicle Stimulating Hormone Phase 4,Phase 2
5 Hormone Antagonists Phase 4,Phase 2,Phase 1,Not Applicable
6 Hormones Phase 4,Phase 2,Phase 1,Not Applicable
7 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2,Phase 1,Not Applicable
8 Fertility Agents Phase 4
9
Testosterone Approved, Investigational Phase 2,Phase 1,Not Applicable 58-22-0 6013
10 Prolactin Release-Inhibiting Factors Phase 2
11
Methyltestosterone Approved Phase 1,Not Applicable 58-18-4 6010
12
Testosterone enanthate Approved Phase 1,Not Applicable 315-37-7 9416
13
Testosterone undecanoate Approved, Investigational Phase 1,Not Applicable 5949-44-0
14
Anastrozole Approved, Investigational Phase 1 120511-73-1 2187
15 Anabolic Agents Phase 1,Not Applicable
16 Androgens Phase 1,Not Applicable
17 Antineoplastic Agents, Hormonal Phase 1,Not Applicable
18 Hypoglycemic Agents Phase 1,Not Applicable
19 insulin Phase 1,Not Applicable
20 Insulin, Globin Zinc Phase 1,Not Applicable
21 Steroid Synthesis Inhibitors Phase 1,Not Applicable
22 Testosterone 17 beta-cypionate Phase 1,Not Applicable
23 Estrogens Phase 1,Not Applicable
24 Aromatase Inhibitors Phase 1
25 Estrogen Antagonists Phase 1
26
Ketoconazole Approved, Investigational Not Applicable 65277-42-1 47576 3823
27
Miconazole Approved, Investigational, Vet_approved Not Applicable 22916-47-8 4189
28
Estradiol Approved, Investigational, Vet_approved Not Applicable 50-28-2 5757
29 Estradiol valerate Approved, Investigational, Vet_approved Not Applicable 979-32-8
30
Estrone Approved Not Applicable 53-16-7 5870
31
Polyestradiol phosphate Approved Not Applicable 28014-46-2
32 Antifungal Agents Not Applicable
33 Anti-Infective Agents Not Applicable
34 Cytochrome P-450 CYP3A Inhibitors Not Applicable
35 Cytochrome P-450 Enzyme Inhibitors Not Applicable
36 Contraceptive Agents Not Applicable
37 Drospirenone and ethinyl estradiol combination Not Applicable
38 Estradiol 17 beta-cypionate Not Applicable
39 Estradiol 3-benzoate Not Applicable
40 Estropipate Not Applicable 7280-37-7
41 Trisequens Not Applicable

Interventional clinical trials:

(show all 20)
# Name Status NCT ID Phase Drugs
1 Sequential Therapy for 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
2 Human Menopausal Gonadotropin Combining With Human Chorionic Gonadotropin Treat Congenital Hypogonadotropic Hypogonadism Recruiting NCT02880280 Phase 4 Human Menopausal Gonadotropin;Human Chorionic Gonadotropin
3 Pulsatile GnRH in Anovulatory Infertility Recruiting NCT00383656 Phase 2 GnRH
4 Follicle Stimulating Hormone (FSH) to Improve Testicular Development in Men With Hypogonadism Terminated NCT00064987 Phase 2 gonadotropin releasing hormone (GnRH);follicle stimulating hormone (FSH)
5 Kisspeptin in the Evaluation of Delayed Puberty Recruiting NCT01438034 Phase 1 kisspeptin 112-121;GnRH
6 Administration of Kisspeptin to Subjects With Reproductive Disorders Recruiting NCT00914823 Phase 1 kisspeptin 112-121;GnRH
7 Effect of Varying Testosterone Levels on Insulin Sensitivity in Men With Idiopathic Hypogonadotropic Hypogonadism (IHH) Terminated NCT03118479 Phase 1 Anastrozole Pill;Testosterone;Placebo Oral Tablet
8 Health Needs of Patients With Kallmann Syndrome Completed NCT01914172
9 Investigating the Regulation of Reproductive Hormones in Adult Men Completed NCT00392457 Not Applicable ketoconazole;gonadotropin releasing hormone (GnRH)
10 Study of a Large Family With Congenital Mirror Movements : From Underlying Pathophysiology to Culprit Gene Identification PROJET " MOMIC " Completed NCT01075061 Not Applicable
11 Effect of Varying Testosterone Levels on Insulin Sensitivity in Normal and IHH Men Completed NCT00470990 Not Applicable GnRH antagonist (Acyline)
12 Psychological Outcomes in Isolated GnRH Deficiency Completed NCT02356172
13 Examination of Idiopathic Hypogonadotropic Hypogonadism (IHH)and Kallmann Syndrome (KS) Recruiting NCT00392756 Not Applicable gonadotropin releasing hormone (GnRH)
14 The Genetic Investigation of Reproductive Disorders (Including Kallmann Syndrome) Recruiting NCT01601171
15 Investigation of the Genetic Causes of Kallmann Syndrome and Reproductive Disorders Recruiting NCT00494169
16 Baselines in Reproductive Disorders Recruiting NCT00456274 Not Applicable
17 Hormonal Regulation of Puberty and Fertility Recruiting NCT01511588
18 Inherited Reproductive Disorders Recruiting NCT01500447
19 Studying the Effects of 7 Days of Gonadotropin Releasing Hormone (GnRH) Treatment in Men With Hypogonadism Active, not recruiting NCT00493961 Not Applicable gonadotropin releasing hormone (GnRH)
20 A Study to Characterize Epidemiology, Clinical and Genetic Features of Kallmann Syndrome in Finland Enrolling by invitation NCT00623116 Not Applicable Short withdrawal of testosterone, gonadotropins or estrogenic compounds (see below)

Search NIH Clinical Center for Kallmann Syndrome

Cochrane evidence based reviews: kallmann syndrome

Genetic Tests for Kallmann Syndrome

Genetic tests related to Kallmann Syndrome:

# Genetic test Affiliating Genes
1 Hypogonadism with Anosmia 29

Anatomical Context for Kallmann Syndrome

MalaCards organs/tissues related to Kallmann Syndrome:

41
Bone, Kidney, Olfactory Bulb, Testes, Heart, Brain, Pituitary

Publications for Kallmann Syndrome

Articles related to Kallmann Syndrome:

(show top 50) (show all 275)
# Title Authors Year
1
A rare ANOS1 variant in siblings with Kallmann syndrome identified by whole exome sequencing. ( 29211946 )
2018
2
Novel interstitial deletion in Xp22.3 in a typical X-linked recessive family with Kallmann syndrome. ( 29441621 )
2018
3
WDR11-mediated Hedgehog signalling defects underlie a new ciliopathy related to Kallmann syndrome. ( 29263200 )
2018
4
De novo SOX10 Nonsense Mutation in a Patient with Kallmann Syndrome, Deafness, Iris Hypopigmentation, and Hyperthyroidism. ( 29678855 )
2018
5
A case of Kallmann syndrome associated with a non-functional pituitary microadenoma. ( 29692900 )
2018
6
Spectral signatures of mirror movements in the sensori-motor connectivity in kallmann syndrome. ( 28963812 )
2018
7
New intronic Fibroblast Growth Factor Receptor 1 (FGFR1) mutation leading to disrupted splicing and Kallmann syndrome. ( 29228280 )
2018
8
GENETICS IN ENDOCRINOLOGY: Genetic counseling for congenital hypogonadotropic hypogonadism and Kallmann syndrome: new challenges in the era of oligogenism and next-generation sequencing. ( 29330225 )
2018
9
Identification of a novel mutation in FGFR1 gene in patients with Kallmann syndrome by high throughput sequencing. ( 29658329 )
2018
10
Clinical data and genetic mutation in Kallmann syndrome with CHARGE syndrome: Case report and pedigree analysis. ( 29979396 )
2018
11
Reconsidering olfactory bulb magnetic resonance patterns in Kallmann syndrome. ( 28807454 )
2017
12
Analysis of genetic and clinical characteristics of a Chinese Kallmann syndrome cohort with ANOS1 mutations. ( 28780519 )
2017
13
Kallmann syndrome in pediatric otorhinolaryngology practice - Case report and literature review. ( 28802362 )
2017
14
Anti-MA1llerian Hormone and Ovarian Morphology in Women With Isolated Hypogonadotropic Hypogonadism/Kallmann Syndrome: Effects of Recombinant Human FSH. ( 28324034 )
2017
15
Lack of decussation of pyramids in Kallmann syndrome presenting with mirror movements. ( 28017217 )
2017
16
Kallmann syndrome: phenotype and genotype of hypogonadotropic hypogonadism. ( 29108899 )
2017
17
Kallmann syndrome with a Tyr113His PROKR2 mutation. ( 28858133 )
2017
18
Suprameatal Cochlear Implantation in a CHARGE Patient With a Novel CHD7 Variant and KALLMANN Syndrome Phenotype: A Case Report. ( 28609304 )
2017
19
Induction of puberty with human chorionic gonadotropin (hCG) followed by reversal of hypogonadotropic hypogonadism in Kallmann syndrome. ( 29022642 )
2017
20
Kallmann Syndrome and Chronic Myeloid Leukemia: A Rare Occurrence. ( 29319252 )
2017
21
Anosmia with hypogonadism: but NOT Kallmann syndrome. ( 28416537 )
2017
22
A dominant negative FGFR1 mutation identified in a Kallmann syndrome patient. ( 28411082 )
2017
23
Kallmann syndrome and deafness: an uncommon combination: A case report and a literature review. ( 27679830 )
2016
24
Anosmin 1 interacts with the prokineticin receptor 2 in vitro indicating a molecular link between both proteins in the pathogenesis of Kallmann syndrome. ( 27184500 )
2016
25
Arachnoid cyst: a further anomaly associated with Kallmann syndrome? ( 27406556 )
2016
26
Autoimmunity meets genetics: Multiple sclerosis in a patient with Kallmann syndrome. ( 27423600 )
2016
27
Kallmann Syndrome: Eugenics and the Man behind the Eponym. ( 27101217 )
2016
28
ANOS1: a unified nomenclature for Kallmann syndrome 1 gene (KAL1) and anosmin-1. ( 27899353 )
2016
29
Kallmann Syndrome and Chronic Myeloid Leukemia: A Rare Occurrence. ( 27766807 )
2016
30
Reversal of congenital hypogonadotropic hypogonadism in a man with Kallmann syndrome due to SOX10 mutation. ( 27616149 )
2016
31
Arachnoid cyst: a further anomaly associated with Kallmann syndrome? ( 27379494 )
2016
32
Genetic sequencing of a patient with Kallmann syndrome plus 5I+-reductase type 2 deficiency. ( 26780871 )
2016
33
CCDC141 Mutation Identified in Anosmic Hypogonadotropic Hypogonadism (Kallmann Syndrome) Alters GnRH Neuronal Migration. ( 27014940 )
2016
34
Ataxia and focal dystonia in Kallmann syndrome. ( 26862419 )
2016
35
Targeted next generation sequencing approach identifies eighteen new candidate genes in normosmic hypogonadotropic hypogonadism and Kallmann syndrome. ( 27502037 )
2016
36
Ichthyosis and Kallmann syndrome: Not always a contiguous gene syndrome. ( 25726327 )
2015
37
Novel FGFR1 and KISS1R Mutations in Chinese Kallmann Syndrome Males with Cleft Lip/Palate. ( 26199944 )
2015
38
Sublingual thyroid ectopy: similarities and differences with Kallmann syndrome. ( 25750738 )
2015
39
Dysfunctional SEMA3E signaling underlies gonadotropin-releasing hormone neuron deficiency in Kallmann syndrome. ( 25985275 )
2015
40
Late-diagnosed Kallmann syndrome. ( 25475520 )
2015
41
Flavor perception test: evaluation in patients with Kallmann syndrome. ( 26209039 )
2015
42
Kallmann syndrome patient with gender dysphoria, multiple sclerosis, and thrombophilia. ( 25739677 )
2015
43
Sniffin' Sticks and olfactory system imaging in patients with Kallmann syndrome. ( 25951300 )
2015
44
Clinical, endocrinological, and molecular characterization of Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: a single center experience. ( 25883924 )
2015
45
Fertility and fragrance: another cause of Kallmann syndrome. ( 25985271 )
2015
46
Point mutations in KAL1 and the mitochondrial gene MT-tRNA(cys) synergize to produce Kallmann syndrome phenotype. ( 26278626 )
2015
47
Novel homozygous deletion of segmental KAL1 and entire STS cause Kallmann syndrome and X-linked ichthyosis in a Chinese family. ( 25597551 )
2015
48
Olfactory Agenesis in Kallmann Syndrome (KS). ( 26023587 )
2015
49
Novel FGFR1 mutations in Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: evidence for the involvement of an alternatively spliced isoform. ( 26277103 )
2015
50
Mutation analyses in pedigrees and sporadic cases of ethnic Han Chinese Kallmann syndrome patients. ( 26031747 )
2015

Variations for Kallmann Syndrome

ClinVar genetic disease variations for Kallmann Syndrome:

6
(show top 50) (show all 402)
# Gene Variation Type Significance SNP ID Assembly Location
1 CHD7 NM_017780.3(CHD7): c.4534-13T> G single nucleotide variant Conflicting interpretations of pathogenicity rs114996731 GRCh38 Chromosome 8, 60841631: 60841631
2 CHD7 NM_017780.3(CHD7): c.4534-13T> G single nucleotide variant Conflicting interpretations of pathogenicity rs114996731 GRCh37 Chromosome 8, 61754190: 61754190
3 CHD7 NM_017780.3(CHD7): c.6135G> A (p.Pro2045=) single nucleotide variant Benign/Likely benign rs6999971 GRCh38 Chromosome 8, 60852860: 60852860
4 CHD7 NM_017780.3(CHD7): c.6135G> A (p.Pro2045=) single nucleotide variant Benign/Likely benign rs6999971 GRCh37 Chromosome 8, 61765419: 61765419
5 CHD7 NM_017780.3(CHD7): c.7579A> C (p.Met2527Leu) single nucleotide variant Benign/Likely benign rs192129249 GRCh38 Chromosome 8, 60856859: 60856859
6 CHD7 NM_017780.3(CHD7): c.7579A> C (p.Met2527Leu) single nucleotide variant Benign/Likely benign rs192129249 GRCh37 Chromosome 8, 61769418: 61769418
7 CHD7 NM_017780.3(CHD7): c.5697C> G (p.Gly1899=) single nucleotide variant Conflicting interpretations of pathogenicity rs528130317 GRCh37 Chromosome 8, 61764609: 61764609
8 CHD7 NM_017780.3(CHD7): c.5697C> G (p.Gly1899=) single nucleotide variant Conflicting interpretations of pathogenicity rs528130317 GRCh38 Chromosome 8, 60852050: 60852050
9 CHD7 NM_017780.3(CHD7): c.3613A> G (p.Ile1205Val) single nucleotide variant Uncertain significance rs751726519 GRCh37 Chromosome 8, 61742971: 61742971
10 CHD7 NM_017780.3(CHD7): c.3613A> G (p.Ile1205Val) single nucleotide variant Uncertain significance rs751726519 GRCh38 Chromosome 8, 60830412: 60830412
11 FGFR1 NM_023110.2(FGFR1): c.2187-6C> T single nucleotide variant Benign/Likely benign rs4647904 GRCh37 Chromosome 8, 38271547: 38271547
12 FGFR1 NM_023110.2(FGFR1): c.2187-6C> T single nucleotide variant Benign/Likely benign rs4647904 GRCh38 Chromosome 8, 38414029: 38414029
13 FGFR1 NM_023110.2(FGFR1): c.2314C> T (p.Pro772Ser) single nucleotide variant Benign/Likely benign rs56234888 GRCh37 Chromosome 8, 38271301: 38271301
14 FGFR1 NM_023110.2(FGFR1): c.2314C> T (p.Pro772Ser) single nucleotide variant Benign/Likely benign rs56234888 GRCh38 Chromosome 8, 38413783: 38413783
15 CHD7 NM_017780.3(CHD7): c.2067G> A (p.Thr689=) single nucleotide variant Conflicting interpretations of pathogenicity rs34979623 GRCh37 Chromosome 8, 61693960: 61693960
16 CHD7 NM_017780.3(CHD7): c.2067G> A (p.Thr689=) single nucleotide variant Conflicting interpretations of pathogenicity rs34979623 GRCh38 Chromosome 8, 60781401: 60781401
17 FGFR1 NM_023110.2(FGFR1): c.320C> T (p.Ser107Leu) single nucleotide variant Benign/Likely benign rs140382957 GRCh37 Chromosome 8, 38287238: 38287238
18 FGFR1 NM_023110.2(FGFR1): c.320C> T (p.Ser107Leu) single nucleotide variant Benign/Likely benign rs140382957 GRCh38 Chromosome 8, 38429720: 38429720
19 FGFR1 NM_023110.2(FGFR1): c.345C> T (p.Ser115=) single nucleotide variant Benign/Likely benign rs2915665 GRCh37 Chromosome 8, 38287213: 38287213
20 FGFR1 NM_023110.2(FGFR1): c.345C> T (p.Ser115=) single nucleotide variant Benign/Likely benign rs2915665 GRCh38 Chromosome 8, 38429695: 38429695
21 CHD7 NM_017780.3(CHD7): c.7209G> A (p.Arg2403=) single nucleotide variant Benign/Likely benign rs61746518 GRCh37 Chromosome 8, 61769048: 61769048
22 CHD7 NM_017780.3(CHD7): c.7209G> A (p.Arg2403=) single nucleotide variant Benign/Likely benign rs61746518 GRCh38 Chromosome 8, 60856489: 60856489
23 CHD7 NM_017780.3(CHD7): c.8047C> T (p.Pro2683Ser) single nucleotide variant Benign/Likely benign rs201319489 GRCh37 Chromosome 8, 61775182: 61775182
24 CHD7 NM_017780.3(CHD7): c.8047C> T (p.Pro2683Ser) single nucleotide variant Benign/Likely benign rs201319489 GRCh38 Chromosome 8, 60862623: 60862623
25 CHD7 NM_017780.3(CHD7): c.8672A> G (p.Asn2891Ser) single nucleotide variant Uncertain significance rs202039728 GRCh37 Chromosome 8, 61778170: 61778170
26 CHD7 NM_017780.3(CHD7): c.8672A> G (p.Asn2891Ser) single nucleotide variant Uncertain significance rs202039728 GRCh38 Chromosome 8, 60865611: 60865611
27 CHD7 NM_017780.3(CHD7): c.2680A> G (p.Thr894Ala) single nucleotide variant Benign/Likely benign rs377662366 GRCh37 Chromosome 8, 61732632: 61732632
28 CHD7 NM_017780.3(CHD7): c.2680A> G (p.Thr894Ala) single nucleotide variant Benign/Likely benign rs377662366 GRCh38 Chromosome 8, 60820073: 60820073
29 CHD7 NM_017780.3(CHD7): c.694C> A (p.Pro232Thr) single nucleotide variant Benign/Likely benign rs554647169 GRCh37 Chromosome 8, 61654685: 61654685
30 CHD7 NM_017780.3(CHD7): c.694C> A (p.Pro232Thr) single nucleotide variant Benign/Likely benign rs554647169 GRCh38 Chromosome 8, 60742126: 60742126
31 CHD7 NM_017780.3(CHD7): c.1565G> T (p.Gly522Val) single nucleotide variant Benign/Likely benign rs142962579 GRCh37 Chromosome 8, 61655556: 61655556
32 CHD7 NM_017780.3(CHD7): c.1565G> T (p.Gly522Val) single nucleotide variant Benign/Likely benign rs142962579 GRCh38 Chromosome 8, 60742997: 60742997
33 CHD7 NM_017780.3(CHD7): c.2831G> A (p.Arg944His) single nucleotide variant Benign/Likely benign rs117506164 GRCh37 Chromosome 8, 61734482: 61734482
34 CHD7 NM_017780.3(CHD7): c.2831G> A (p.Arg944His) single nucleotide variant Benign/Likely benign rs117506164 GRCh38 Chromosome 8, 60821923: 60821923
35 CHD7 NM_017780.3(CHD7): c.8322C> G (p.Gly2774=) single nucleotide variant Uncertain significance rs376063472 GRCh38 Chromosome 8, 60865261: 60865261
36 CHD7 NM_017780.3(CHD7): c.8322C> G (p.Gly2774=) single nucleotide variant Uncertain significance rs376063472 GRCh37 Chromosome 8, 61777820: 61777820
37 PROKR2 NM_144773.3(PROKR2): c.802C> T (p.Arg268Cys) single nucleotide variant Benign/Likely benign rs78861628 GRCh37 Chromosome 20, 5283039: 5283039
38 PROKR2 NM_144773.3(PROKR2): c.802C> T (p.Arg268Cys) single nucleotide variant Benign/Likely benign rs78861628 GRCh38 Chromosome 20, 5302393: 5302393
39 CHD7 NM_017780.3(CHD7): c.1188G> T (p.Met396Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs201653177 GRCh37 Chromosome 8, 61655179: 61655179
40 CHD7 NM_017780.3(CHD7): c.1188G> T (p.Met396Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs201653177 GRCh38 Chromosome 8, 60742620: 60742620
41 FGFR1 NM_023110.2(FGFR1): c.*1770G> A single nucleotide variant Likely benign rs183394116 GRCh38 Chromosome 8, 38411858: 38411858
42 FGFR1 NM_023110.2(FGFR1): c.*1770G> A single nucleotide variant Likely benign rs183394116 GRCh37 Chromosome 8, 38269376: 38269376
43 FGFR1 NM_023110.2(FGFR1): c.*1286C> T single nucleotide variant Uncertain significance rs886062909 GRCh37 Chromosome 8, 38269860: 38269860
44 FGFR1 NM_023110.2(FGFR1): c.*1286C> T single nucleotide variant Uncertain significance rs886062909 GRCh38 Chromosome 8, 38412342: 38412342
45 FGFR1 NM_023110.2(FGFR1): c.*1211G> T single nucleotide variant Likely benign rs185104092 GRCh37 Chromosome 8, 38269935: 38269935
46 FGFR1 NM_023110.2(FGFR1): c.*1211G> T single nucleotide variant Likely benign rs185104092 GRCh38 Chromosome 8, 38412417: 38412417
47 FGFR1 NM_023110.2(FGFR1): c.*723G> C single nucleotide variant Likely benign rs17182477 GRCh37 Chromosome 8, 38270423: 38270423
48 FGFR1 NM_023110.2(FGFR1): c.*723G> C single nucleotide variant Likely benign rs17182477 GRCh38 Chromosome 8, 38412905: 38412905
49 FGFR1 NM_023110.2(FGFR1): c.*70C> T single nucleotide variant Uncertain significance rs886062918 GRCh37 Chromosome 8, 38271076: 38271076
50 FGFR1 NM_023110.2(FGFR1): c.*70C> T single nucleotide variant Uncertain significance rs886062918 GRCh38 Chromosome 8, 38413558: 38413558

Expression for Kallmann Syndrome

Search GEO for disease gene expression data for Kallmann Syndrome.

Pathways for Kallmann Syndrome

GO Terms for Kallmann Syndrome

Cellular components related to Kallmann Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 9.17 FGFR1 FLRT3 HS6ST1 IL17RD KISS1R PROKR2

Biological processes related to Kallmann Syndrome according to GeneCards Suite gene sharing:

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 MAPK cascade GO:0000165 9.83 FGF17 FGF8 FGFR1 IL17RD
2 multicellular organism development GO:0007275 9.76 FEZF1 FGF17 FGF8 FGFR1 FLRT3 HESX1
3 neuron migration GO:0001764 9.75 FEZF1 FGFR1 SEMA3A
4 neuropeptide signaling pathway GO:0007218 9.74 KISS1R PROK2 PROKR2
5 phosphatidylinositol phosphorylation GO:0046854 9.73 FGF17 FGF8 FGFR1
6 axon guidance GO:0007411 9.71 ANOS1 FEZF1 FLRT3 SEMA3A
7 inner ear morphogenesis GO:0042472 9.61 CHD7 FGF8 FGFR1
8 motor neuron axon guidance GO:0008045 9.58 FGF8 SEMA3A
9 generation of neurons GO:0048699 9.55 FGF8 FGFR1
10 aorta morphogenesis GO:0035909 9.54 CHD7 FGF8
11 positive regulation of neuron migration GO:2001224 9.51 NSMF SEMA3A
12 organ induction GO:0001759 9.49 FGF8 FGFR1
13 branching involved in salivary gland morphogenesis GO:0060445 9.48 FGF8 FGFR1
14 forebrain morphogenesis GO:0048853 9.46 FGF8 HESX1
15 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.43 FGF17 FGF8 FGFR1
16 nose development GO:0043584 9.37 CHD7 HESX1
17 otic vesicle formation GO:0030916 9.32 FGF8 HESX1
18 olfactory bulb development GO:0021772 9.13 CHD7 FEZF1 SEMA3A
19 fibroblast growth factor receptor signaling pathway GO:0008543 9.02 ANOS1 FGF17 FGF8 FGFR1 FLRT3

Molecular functions related to Kallmann Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.43 FGF17 FGF8 FGFR1
2 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.33 FGF17 FGF8 FGFR1
3 chemorepellent activity GO:0045499 9.32 FLRT3 SEMA3A
4 1-phosphatidylinositol-3-kinase activity GO:0016303 9.13 FGF17 FGF8 FGFR1
5 fibroblast growth factor receptor binding GO:0005104 8.8 FGF17 FGF8 FLRT3

Sources for Kallmann Syndrome

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
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