MCID: KLL001
MIFTS: 64

Kallmann Syndrome

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

Aliases & Classifications for Kallmann Syndrome

MalaCards integrated aliases for Kallmann Syndrome:

Name: Kallmann Syndrome 12 54 26 60 56 45 15 41 41 74
Hypogonadism with Anosmia 12 26 30 6
Anosmic Idiopathic Hypogonadotropic Hypogonadism 54 26
Hypogonadotropic Hypogonadism-Anosmia Syndrome 54 26
Hypogonadotropic Hypogonadism and Anosmia 54 26
Olfacto-Genital Pathological Sequence 54 60
Anosmic Hypogonadism 54 26
Kallman's Syndrome 12 26
Congenital Hypogonadotropic Hypogonadism with Anosmia 60
Familial Hypogonadism with Anosmia 12
Kallmann's Syndrome 54
Kallman Syndrome 12

Characteristics:

Orphanet epidemiological data:

60
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 : 54 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 hypogonadism. An important gene associated with Kallmann Syndrome is ANOS1 (Anosmin 1), and among its related pathways/superpathways are Immune response IFN alpha/beta signaling pathway and Immune response IFN gamma signaling pathway. The drugs Menotropins and Zinc have been mentioned in the context of this disorder. Affiliated tissues include bone, breast and kidney, and related phenotypes are delayed puberty and hypogonadotrophic hypogonadism

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

Genetics Home Reference : 26 Kallmann syndrome is a condition characterized by delayed or absent puberty and an impaired sense of smell.

Wikipedia : 77 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 119)
# Related Disease Score Top Affiliating Genes
1 hypogonadotropic hypogonadism 7 with or without anosmia 32.5 CCDC141 FEZF1 FGF17 FGFR1 FLRT3 IL17RD
2 hypogonadism 31.2 ANOS1 CHD7 FGF17 FGF8 FGFR1 KISS1R
3 hypogonadotropic hypogonadism 31.2 ANOS1 CHD7 FGF17 FGF8 FGFR1 KISS1R
4 charge syndrome 30.8 ANOS1 CHD7 FGF8 FGFR1 PROK2 PROKR2
5 normosmic congenital hypogonadotropic hypogonadism 30.6 ANOS1 CHD7 FGF17 FGF8 FGFR1 HS6ST1
6 cryptorchidism, unilateral or bilateral 30.5 ANOS1 FGFR1 PROK2 PROKR2
7 kallmann syndrome with spastic paraplegia 12.4
8 hypogonadotropic hypogonadism 1 with or without anosmia 12.2
9 kallmann syndrome 3 12.1
10 kallmann syndrome 5 12.1
11 kallmann syndrome 6 12.1
12 brachytelephalangy with characteristic facies and kallmann syndrome 12.1
13 kallmann syndrome 4 12.1
14 kallmann syndrome-heart disease syndrome 12.0
15 hypogonadotropic hypogonadism 2 with or without anosmia 11.9
16 hypogonadotropic hypogonadism 3 with or without anosmia 11.8
17 hypogonadotropic hypogonadism 4 with or without anosmia 11.8
18 hypogonadotropic hypogonadism 5 with or without anosmia 11.8
19 hypogonadotropic hypogonadism 6 with or without anosmia 11.8
20 waardenburg syndrome, type 2e 11.6
21 septooptic dysplasia 11.3
22 hypogonadotropic hypogonadism 8 with or without anosmia 11.1
23 hypogonadotropic hypogonadism 9 with or without anosmia 11.1
24 hypogonadotropic hypogonadism 10 with or without anosmia 11.1
25 hypogonadotropic hypogonadism 11 with or without anosmia 11.1
26 hypogonadotropic hypogonadism 12 with or without anosmia 11.1
27 hypogonadotropic hypogonadism 13 with or without anosmia 11.1
28 hypogonadotropic hypogonadism 14 with or without anosmia 11.1
29 hypogonadotropic hypogonadism 15 with or without anosmia 11.1
30 hypogonadotropic hypogonadism 16 with or without anosmia 11.1
31 hypogonadotropic hypogonadism 17 with or without anosmia 11.1
32 hypogonadotropic hypogonadism 18 with or without anosmia 11.1
33 hypogonadotropic hypogonadism 19 with or without anosmia 11.1
34 hypogonadotropic hypogonadism 20 with or without anosmia 11.1
35 hypogonadotropic hypogonadism 21 with or without anosmia 11.1
36 hypogonadotropic hypogonadism 22 with or without anosmia 11.1
37 septo-optic dysplasia spectrum 11.0
38 hypogonadism, male 11.0
39 xp22.3 microdeletion syndrome 11.0
40 hartsfield syndrome 10.4 FGF8 FGFR1
41 gonadal disease 10.4 ANOS1 KISS1R PROKR2
42 pituitary stalk interruption syndrome 10.4 HESX1 PROKR2 WDR11
43 ichthyosis 10.4
44 idiopathic central precocious puberty 10.4 KISS1R TACR3
45 isolated gonadotropin-releasing hormone deficiency 10.4
46 lobar holoprosencephaly 10.3 FGF8 FGFR1
47 renal hypodysplasia/aplasia 1 10.2
48 ichthyosis, x-linked 10.2
49 microform holoprosencephaly 10.2 FGF8 FGFR1
50 chondrodysplasia punctata syndrome 10.1

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:

60 33 (show all 46)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed puberty 60 33 hallmark (90%) Very frequent (99-80%) HP:0000823
2 hypogonadotrophic hypogonadism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000044
3 anterior hypopituitarism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000830
4 decreased testicular size 60 33 hallmark (90%) Very frequent (99-80%) HP:0008734
5 decreased fertility 60 33 hallmark (90%) Very frequent (99-80%) HP:0000144
6 erectile abnormalities 60 33 hallmark (90%) Very frequent (99-80%) HP:0100639
7 micropenis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000054
8 anosmia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000458
9 hyposmia 60 33 hallmark (90%) Very frequent (99-80%) HP:0004409
10 hypothalamic gonadotropin-releasing hormone deficiency 33 hallmark (90%) HP:0003164
11 reduced bone mineral density 60 33 frequent (33%) Frequent (79-30%) HP:0004349
12 cryptorchidism 60 33 frequent (33%) Frequent (79-30%) HP:0000028
13 abnormality of the voice 60 33 frequent (33%) Frequent (79-30%) HP:0001608
14 breast hypoplasia 60 33 frequent (33%) Frequent (79-30%) HP:0003187
15 obesity 60 33 occasional (7.5%) Occasional (29-5%) HP:0001513
16 ptosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000508
17 nystagmus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000639
18 seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0001250
19 ataxia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001251
20 muscular hypotonia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001252
21 dysarthria 60 33 occasional (7.5%) Occasional (29-5%) HP:0001260
22 gait disturbance 60 33 occasional (7.5%) Occasional (29-5%) HP:0001288
23 muscle weakness 60 33 occasional (7.5%) Occasional (29-5%) HP:0001324
24 tremor 60 33 occasional (7.5%) Occasional (29-5%) HP:0001337
25 skeletal dysplasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002652
26 delayed skeletal maturation 60 33 occasional (7.5%) Occasional (29-5%) HP:0002750
27 pes planus 60 33 occasional (7.5%) Occasional (29-5%) HP:0001763
28 sensorineural hearing impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000407
29 visual impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000505
30 ichthyosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0008064
31 cleft palate 60 33 occasional (7.5%) Occasional (29-5%) HP:0000175
32 primary amenorrhea 60 33 occasional (7.5%) Occasional (29-5%) HP:0000786
33 pes cavus 60 33 occasional (7.5%) Occasional (29-5%) HP:0001761
34 recurrent fractures 60 33 occasional (7.5%) Occasional (29-5%) HP:0002757
35 reduced number of teeth 60 33 occasional (7.5%) Occasional (29-5%) HP:0009804
36 abnormality of color vision 60 33 occasional (7.5%) Occasional (29-5%) HP:0000551
37 gynecomastia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000771
38 dyspareunia 60 33 occasional (7.5%) Occasional (29-5%) HP:0030016
39 renal agenesis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000104
40 paraplegia 60 33 occasional (7.5%) Occasional (29-5%) HP:0010550
41 bimanual synkinesia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001335
42 abnormality of cardiovascular system morphology 33 occasional (7.5%) HP:0030680
43 malformation of the heart and great vessels 60 Occasional (29-5%)
44 hypoplasia of penis 60 Very frequent (99-80%)
45 abnormality of female internal genitalia 60 Occasional (29-5%)
46 hypothalamic gonadotropin-releasing hormone (gnrh) deficiency 60 Very frequent (99-80%)

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

27 (show all 24)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-101 9.84 FGF8
2 Increased shRNA abundance (Z-score > 2) GR00366-A-102 9.84 FGF17
3 Increased shRNA abundance (Z-score > 2) GR00366-A-103 9.84 SOX10
4 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.84 SOX10 SPRY4
5 Increased shRNA abundance (Z-score > 2) GR00366-A-128 9.84 FGF8
6 Increased shRNA abundance (Z-score > 2) GR00366-A-140 9.84 FGF8
7 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.84 SPRY4
8 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.84 FGF17 SOX10
9 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.84 SPRY4
10 Increased shRNA abundance (Z-score > 2) GR00366-A-205 9.84 FGF8
11 Increased shRNA abundance (Z-score > 2) GR00366-A-21 9.84 SPRY4
12 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.84 FGF17
13 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.84 FGF8 SOX10
14 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.84 FGF8
15 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.84 FGF17 FGF8 SOX10 SPRY4
16 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.84 SPRY4
17 Increased shRNA abundance (Z-score > 2) GR00366-A-54 9.84 FGF17 SPRY4
18 Increased shRNA abundance (Z-score > 2) GR00366-A-57 9.84 FGF8
19 Increased shRNA abundance (Z-score > 2) GR00366-A-65 9.84 SPRY4
20 Increased shRNA abundance (Z-score > 2) GR00366-A-7 9.84 SOX10
21 Increased shRNA abundance (Z-score > 2) GR00366-A-70 9.84 SOX10 SPRY4
22 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.84 SOX10
23 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.84 FGF8 SOX10
24 Increased shRNA abundance (Z-score > 2) GR00366-A-92 9.84 FGF17

MGI Mouse Phenotypes related to Kallmann Syndrome:

47 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.31 CCDC141 CHD7 FEZF1 FGF8 FGFR1 FLRT3
2 cellular MP:0005384 10.29 CCDC141 CHD7 FEZF1 FGF8 FGFR1 FLRT3
3 behavior/neurological MP:0005386 10.28 CCDC141 CHD7 FEZF1 FGF17 FGF8 FGFR1
4 nervous system MP:0003631 10.25 CCDC141 CHD7 FEZF1 FGF17 FGF8 FGFR1
5 mortality/aging MP:0010768 10.21 CCDC141 CHD7 FEZF1 FGF8 FGFR1 FLRT3
6 endocrine/exocrine gland MP:0005379 10.2 CHD7 FGF8 FGFR1 HESX1 HS6ST1 KISS1R
7 cardiovascular system MP:0005385 10.18 CHD7 FGF8 FGFR1 FLRT3 HS6ST1 IL17RD
8 embryo MP:0005380 10.08 CHD7 FGF8 FGFR1 FLRT3 HESX1 HS6ST1
9 craniofacial MP:0005382 10.04 CHD7 FEZF1 FGF8 FGFR1 HESX1 SPRY4
10 limbs/digits/tail MP:0005371 9.95 CHD7 FGF8 FGFR1 HS6ST1 SOX10 SPRY4
11 reproductive system MP:0005389 9.91 CCDC141 CHD7 FGF8 FGFR1 KISS1R NSMF
12 respiratory system MP:0005388 9.81 CHD7 FEZF1 FGF8 HESX1 HS6ST1 SEMA3A
13 skeleton MP:0005390 9.56 CHD7 FGF8 FGFR1 HS6ST1 KISS1R SEMA3A
14 vision/eye MP:0005391 9.17 CHD7 FGF8 FGFR1 HESX1 HS6ST1 SPRY4

Drugs & Therapeutics for Kallmann Syndrome

Drugs for Kallmann Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 42)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Menotropins Approved Phase 4 9002-68-0, 61489-71-2 5360545
2
Zinc Approved, Investigational Phase 4 7440-66-6 32051
3 Chorionic Gonadotropin Phase 4,Not Applicable
4 Hormones Phase 4,Phase 2,Phase 1,Not Applicable
5 Fertility Agents Phase 4
6 Follicle Stimulating Hormone Phase 4,Phase 2
7 Hormone Antagonists Phase 4,Phase 2,Phase 1,Not Applicable
8 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2,Phase 1,Not Applicable
9
Testosterone Approved, Experimental, Investigational Phase 2,Phase 1,Not Applicable 58-22-0, 481-30-1 6013 10204
10 Prolactin Release-Inhibiting Factors Phase 2
11
Testosterone enanthate Approved Phase 1,Not Applicable 315-37-7 9416
12
Methyltestosterone Approved Phase 1,Not Applicable 58-18-4 6010
13
Testosterone undecanoate Approved, Investigational Phase 1,Not Applicable 5949-44-0
14
Anastrozole Approved, Investigational Phase 1 120511-73-1 2187
15 Steroid Synthesis Inhibitors Phase 1,Not Applicable
16 Hypoglycemic Agents Phase 1,Not Applicable
17 Androgens Phase 1,Not Applicable
18 insulin Phase 1,Not Applicable
19 Antineoplastic Agents, Hormonal Phase 1,Not Applicable
20 Insulin, Globin Zinc Phase 1,Not Applicable
21 Anabolic Agents Phase 1,Not Applicable
22 Testosterone 17 beta-cypionate Phase 1,Not Applicable
23 Estrogens Phase 1,Not Applicable
24 Estrogen Antagonists Phase 1
25 Estrogen Receptor Antagonists Phase 1
26 Aromatase Inhibitors Phase 1
27
Ketoconazole Approved, Investigational Not Applicable 65277-42-1 47576
28
Miconazole Approved, Investigational, Vet_approved Not Applicable 22916-47-8 4189
29
Estrone Approved Not Applicable 53-16-7 5870
30
Polyestradiol phosphate Approved Not Applicable 28014-46-2
31
Estradiol Approved, Investigational, Vet_approved Not Applicable 50-28-2 5757
32 Acyline Investigational Not Applicable 170157-13-8
33 Antifungal Agents Not Applicable
34 Cytochrome P-450 Enzyme Inhibitors Not Applicable
35 Cytochrome P-450 CYP3A Inhibitors Not Applicable
36 Anti-Infective Agents Not Applicable
37 Estradiol 17 beta-cypionate Not Applicable
38 Estradiol 3-benzoate Not Applicable
39 Contraceptive Agents Not Applicable
40 Trisequens Not Applicable
41 Drospirenone and ethinyl estradiol combination Not Applicable
42 Estropipate Not Applicable 7280-37-7

Interventional clinical trials:

(show all 21)
# Name Status NCT ID Phase Drugs
1 Human Menopausal Gonadotropin Combining With Human Chorionic Gonadotropin Treat Congenital Hypogonadotropic Hypogonadism Unknown status NCT02880280 Phase 4 Human Menopausal Gonadotropin;Human Chorionic Gonadotropin
2 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
3 Efficacy and Safety of Long Term Use of hCG or hCG Plus hMG in Males With Isolated Hypogonadotropic Hypogonadism (IHH) Not yet recruiting NCT03687606 Phase 4 Human Chorionic Gonadotropin;human menopausal gonadotropin
4 Pulsatile GnRH in Anovulatory Infertility Recruiting NCT00383656 Phase 2 GnRH
5 Follicle Stimulating Hormone (FSH) to Improve Testicular Development in Men With Hypogonadism 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 Administration of Kisspeptin to Subjects With Reproductive Disorders Recruiting NCT00914823 Phase 1 kisspeptin 112-121;GnRH
8 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
9 Health Needs of Patients With Kallmann Syndrome Completed NCT01914172
10 Investigating the Regulation of Reproductive Hormones in Adult Men Completed NCT00392457 Not Applicable ketoconazole;gonadotropin releasing hormone (GnRH)
11 Study of a Large Family With Congenital Mirror Movements : From Underlying Pathophysiology to Culprit Gene Identification PROJET " MOMIC " Completed NCT01075061 Not Applicable
12 Effect of Varying Testosterone Levels on Insulin Sensitivity in Normal and IHH Men Completed NCT00470990 Not Applicable GnRH antagonist (Acyline)
13 Psychological Outcomes in Isolated GnRH Deficiency Completed NCT02356172
14 Examination of Idiopathic Hypogonadotropic Hypogonadism (IHH)and Kallmann Syndrome (KS) Recruiting NCT00392756 Not Applicable gonadotropin releasing hormone (GnRH)
15 The Genetic Investigation of Reproductive Disorders (Including Kallmann Syndrome) Recruiting NCT01601171
16 Investigation of the Genetic Causes of Kallmann Syndrome and Reproductive Disorders Recruiting NCT00494169
17 Baselines in Reproductive Disorders Recruiting NCT00456274 Not Applicable
18 Hormonal Regulation of Puberty and Fertility Recruiting NCT01511588
19 Inherited Reproductive Disorders Recruiting NCT01500447
20 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)
21 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 30

Anatomical Context for Kallmann Syndrome

MalaCards organs/tissues related to Kallmann Syndrome:

42
Bone, Breast, Kidney, Olfactory Bulb, Heart, Testes, Brain

Publications for Kallmann Syndrome

Articles related to Kallmann Syndrome:

(show top 50) (show all 291)
# Title Authors Year
1
Functional analysis of SOX10 mutations identified in Chinese patients with Kallmann syndrome. ( 30914325 )
2019
2
A rare ANOS1 variant in siblings with Kallmann syndrome identified by whole exome sequencing. ( 29211946 )
2018
3
Novel interstitial deletion in Xp22.3 in a typical X-linked recessive family with Kallmann syndrome. ( 29441621 )
2018
4
WDR11-mediated Hedgehog signalling defects underlie a new ciliopathy related to Kallmann syndrome. ( 29263200 )
2018
5
De novo SOX10 Nonsense Mutation in a Patient with Kallmann Syndrome, Deafness, Iris Hypopigmentation, and Hyperthyroidism. ( 29678855 )
2018
6
A case of Kallmann syndrome associated with a non-functional pituitary microadenoma. ( 29692900 )
2018
7
Spectral signatures of mirror movements in the sensori-motor connectivity in kallmann syndrome. ( 28963812 )
2018
8
New intronic Fibroblast Growth Factor Receptor 1 (FGFR1) mutation leading to disrupted splicing and Kallmann syndrome. ( 29228280 )
2018
9
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
10
Identification of a novel mutation in FGFR1 gene in patients with Kallmann syndrome by high throughput sequencing. ( 29658329 )
2018
11
Clinical data and genetic mutation in Kallmann syndrome with CHARGE syndrome: Case report and pedigree analysis. ( 29979396 )
2018
12
Targeted Gene Panel Sequencing for Molecular Diagnosis of Kallmann Syndrome and Normosmic Idiopathic Hypogonadotropic Hypogonadism. ( 30216942 )
2018
13
Kallmann Syndrome With Micropenis. ( 30219169 )
2018
14
Unilateral renal agenesis as an early marker for genetic screening in Kallmann syndrome. ( 30255480 )
2018
15
Reconsidering olfactory bulb magnetic resonance patterns in Kallmann syndrome. ( 28807454 )
2017
16
Analysis of genetic and clinical characteristics of a Chinese Kallmann syndrome cohort with ANOS1 mutations. ( 28780519 )
2017
17
Kallmann syndrome in pediatric otorhinolaryngology practice - Case report and literature review. ( 28802362 )
2017
18
Anti-MA1llerian Hormone and Ovarian Morphology in Women With Isolated Hypogonadotropic Hypogonadism/Kallmann Syndrome: Effects of Recombinant Human FSH. ( 28324034 )
2017
19
Lack of decussation of pyramids in Kallmann syndrome presenting with mirror movements. ( 28017217 )
2017
20
Kallmann syndrome: phenotype and genotype of hypogonadotropic hypogonadism. ( 29108899 )
2017
21
Kallmann syndrome with a Tyr113His PROKR2 mutation. ( 28858133 )
2017
22
Suprameatal Cochlear Implantation in a CHARGE Patient With a Novel CHD7 Variant and KALLMANN Syndrome Phenotype: A Case Report. ( 28609304 )
2017
23
Induction of puberty with human chorionic gonadotropin (hCG) followed by reversal of hypogonadotropic hypogonadism in Kallmann syndrome. ( 29022642 )
2017
24
Kallmann Syndrome and Chronic Myeloid Leukemia: A Rare Occurrence. ( 29319252 )
2017
25
Anosmia with hypogonadism: but NOT Kallmann syndrome. ( 28416537 )
2017
26
A dominant negative FGFR1 mutation identified in a Kallmann syndrome patient. ( 28411082 )
2017
27
Kallmann syndrome and ichthyosis: a case of contiguous gene deletion syndrome. ( 30352392 )
2017
28
[Kallmann syndrome with deafness caused by SOX10 mutation: Advances in research]. ( 29726667 )
2017
29
Kallmann syndrome and deafness: an uncommon combination: A case report and a literature review. ( 27679830 )
2016
30
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
31
Arachnoid cyst: a further anomaly associated with Kallmann syndrome? ( 27406556 )
2016
32
Autoimmunity meets genetics: Multiple sclerosis in a patient with Kallmann syndrome. ( 27423600 )
2016
33
Kallmann Syndrome: Eugenics and the Man behind the Eponym. ( 27101217 )
2016
34
ANOS1: a unified nomenclature for Kallmann syndrome 1 gene (KAL1) and anosmin-1. ( 27899353 )
2016
35
Kallmann Syndrome and Chronic Myeloid Leukemia: A Rare Occurrence. ( 27766807 )
2016
36
Reversal of congenital hypogonadotropic hypogonadism in a man with Kallmann syndrome due to SOX10 mutation. ( 27616149 )
2016
37
Arachnoid cyst: a further anomaly associated with Kallmann syndrome? ( 27379494 )
2016
38
Genetic sequencing of a patient with Kallmann syndrome plus 5I+-reductase type 2 deficiency. ( 26780871 )
2016
39
CCDC141 Mutation Identified in Anosmic Hypogonadotropic Hypogonadism (Kallmann Syndrome) Alters GnRH Neuronal Migration. ( 27014940 )
2016
40
Ataxia and focal dystonia in Kallmann syndrome. ( 26862419 )
2016
41
Targeted next generation sequencing approach identifies eighteen new candidate genes in normosmic hypogonadotropic hypogonadism and Kallmann syndrome. ( 27502037 )
2016
42
Successful pregnancy by vitrified-warmed embryo transfer for a woman with Kallmann syndrome. ( 29259420 )
2016
43
Ichthyosis and Kallmann syndrome: Not always a contiguous gene syndrome. ( 25726327 )
2015
44
Novel FGFR1 and KISS1R Mutations in Chinese Kallmann Syndrome Males with Cleft Lip/Palate. ( 26199944 )
2015
45
Sublingual thyroid ectopy: similarities and differences with Kallmann syndrome. ( 25750738 )
2015
46
Dysfunctional SEMA3E signaling underlies gonadotropin-releasing hormone neuron deficiency in Kallmann syndrome. ( 25985275 )
2015
47
Late-diagnosed Kallmann syndrome. ( 25475520 )
2015
48
Flavor perception test: evaluation in patients with Kallmann syndrome. ( 26209039 )
2015
49
Kallmann syndrome patient with gender dysphoria, multiple sclerosis, and thrombophilia. ( 25739677 )
2015
50
Sniffin' Sticks and olfactory system imaging in patients with Kallmann syndrome. ( 25951300 )
2015

Variations for Kallmann Syndrome

ClinVar genetic disease variations for Kallmann Syndrome:

6 (show top 50) (show all 448)
# 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 GRCh38 Chromosome 8, 60852050: 60852050
8 CHD7 NM_017780.3(CHD7): c.5697C> G (p.Gly1899=) single nucleotide variant Conflicting interpretations of pathogenicity rs528130317 GRCh37 Chromosome 8, 61764609: 61764609
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 Conflicting interpretations of pathogenicity rs202039728 GRCh37 Chromosome 8, 61778170: 61778170
26 CHD7 NM_017780.3(CHD7): c.8672A> G (p.Asn2891Ser) single nucleotide variant Conflicting interpretations of pathogenicity 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 PROKR2 NM_144773.3(PROKR2): c.518T> G (p.Leu173Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs74315416 GRCh37 Chromosome 20, 5283323: 5283323
32 PROKR2 NM_144773.3(PROKR2): c.518T> G (p.Leu173Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs74315416 GRCh38 Chromosome 20, 5302677: 5302677
33 CHD7 NM_017780.3(CHD7): c.1018A> G (p.Met340Val) single nucleotide variant Benign/Likely benign rs41305525 GRCh37 Chromosome 8, 61655009: 61655009
34 CHD7 NM_017780.3(CHD7): c.1018A> G (p.Met340Val) single nucleotide variant Benign/Likely benign rs41305525 GRCh38 Chromosome 8, 60742450: 60742450
35 CHD7 NM_017780.3(CHD7): c.1419G> C (p.Gly473=) single nucleotide variant Benign/Likely benign rs186394299 GRCh37 Chromosome 8, 61655410: 61655410
36 CHD7 NM_017780.3(CHD7): c.1419G> C (p.Gly473=) single nucleotide variant Benign/Likely benign rs186394299 GRCh38 Chromosome 8, 60742851: 60742851
37 CHD7 NM_017780.3(CHD7): c.2053_2058dupGCAAAA (p.Lys686_Thr687insAlaLys) duplication Benign/Likely benign rs377139749 GRCh37 Chromosome 8, 61693946: 61693951
38 CHD7 NM_017780.3(CHD7): c.2053_2058dupGCAAAA (p.Lys686_Thr687insAlaLys) duplication Benign/Likely benign rs377139749 GRCh38 Chromosome 8, 60781387: 60781392
39 CHD7 NM_017780.3(CHD7): c.2124T> C (p.Ser708=) single nucleotide variant Benign/Likely benign rs79302359 GRCh37 Chromosome 8, 61707572: 61707572
40 CHD7 NM_017780.3(CHD7): c.2124T> C (p.Ser708=) single nucleotide variant Benign/Likely benign rs79302359 GRCh38 Chromosome 8, 60795013: 60795013
41 CHD7 NM_017780.3(CHD7): c.216T> C (p.Tyr72=) single nucleotide variant Conflicting interpretations of pathogenicity rs16926453 GRCh37 Chromosome 8, 61654207: 61654207
42 CHD7 NM_017780.3(CHD7): c.216T> C (p.Tyr72=) single nucleotide variant Conflicting interpretations of pathogenicity rs16926453 GRCh38 Chromosome 8, 60741648: 60741648
43 CHD7 NM_017780.3(CHD7): c.307T> A (p.Ser103Thr) single nucleotide variant Benign/Likely benign rs41272435 GRCh37 Chromosome 8, 61654298: 61654298
44 CHD7 NM_017780.3(CHD7): c.307T> A (p.Ser103Thr) single nucleotide variant Benign/Likely benign rs41272435 GRCh38 Chromosome 8, 60741739: 60741739
45 CHD7 NM_017780.3(CHD7): c.3366G> C (p.Lys1122Asn) single nucleotide variant Uncertain significance rs41272440 GRCh37 Chromosome 8, 61736563: 61736563
46 CHD7 NM_017780.3(CHD7): c.3366G> C (p.Lys1122Asn) single nucleotide variant Uncertain significance rs41272440 GRCh38 Chromosome 8, 60824004: 60824004
47 CHD7 NM_017780.3(CHD7): c.5051-4C> T single nucleotide variant Benign/Likely benign rs71640288 GRCh37 Chromosome 8, 61757805: 61757805
48 CHD7 NM_017780.3(CHD7): c.5051-4C> T single nucleotide variant Benign/Likely benign rs71640288 GRCh38 Chromosome 8, 60845246: 60845246
49 CHD7 NM_017780.3(CHD7): c.5307C> T (p.Ala1769=) single nucleotide variant Benign/Likely benign rs16926499 GRCh37 Chromosome 8, 61761616: 61761616
50 CHD7 NM_017780.3(CHD7): c.5307C> T (p.Ala1769=) single nucleotide variant Benign/Likely benign rs16926499 GRCh38 Chromosome 8, 60849057: 60849057

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 KISS1R PROKR2 SEMA3A

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.91 FEZF1 FGF17 FGF8 FLRT3 HESX1 SEMA3A
2 MAPK cascade GO:0000165 9.78 FGF17 FGF8 FGFR1 IL17RD
3 phosphatidylinositol phosphorylation GO:0046854 9.76 FGF17 FGF8 FGFR1
4 neuron migration GO:0001764 9.74 FEZF1 FGFR1 SEMA3A
5 axon guidance GO:0007411 9.73 ANOS1 FEZF1 FLRT3 SEMA3A
6 neuropeptide signaling pathway GO:0007218 9.72 KISS1R PROK2 PROKR2
7 motor neuron axon guidance GO:0008045 9.59 FGF8 SEMA3A
8 head development GO:0060322 9.58 FLRT3 WDR11
9 inner ear morphogenesis GO:0042472 9.58 CHD7 FGF8 FGFR1
10 positive regulation of neuron migration GO:2001224 9.56 NSMF SEMA3A
11 aorta morphogenesis GO:0035909 9.54 CHD7 FGF8
12 generation of neurons GO:0048699 9.52 FGF8 FGFR1
13 branching involved in salivary gland morphogenesis GO:0060445 9.51 FGF8 FGFR1
14 organ induction GO:0001759 9.49 FGF8 FGFR1
15 forebrain morphogenesis GO:0048853 9.46 FGF8 HESX1
16 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.33 FGF17 FGF8 FGFR1
17 nose development GO:0043584 9.32 CHD7 HESX1
18 otic vesicle formation GO:0030916 9.26 FGF8 HESX1
19 olfactory bulb development GO:0021772 9.13 CHD7 FEZF1 SEMA3A
20 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 1-phosphatidylinositol-3-kinase activity GO:0016303 9.13 FGF17 FGF8 FGFR1
4 fibroblast growth factor receptor binding GO:0005104 8.8 FGF17 FGF8 FLRT3

Sources for Kallmann Syndrome

3 CDC
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10 dbSNP
11 DGIdb
17 EFO
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