MCID: KLL001
MIFTS: 63

Kallmann Syndrome

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

Aliases & Classifications for Kallmann Syndrome

MalaCards integrated aliases for Kallmann Syndrome:

Name: Kallmann Syndrome 12 49 24 55 51 41 14 69
Hypogonadism with Anosmia 12 24 28
Anosmic Idiopathic Hypogonadotropic Hypogonadism 49 24
Hypogonadotropic Hypogonadism-Anosmia Syndrome 49 24
Hypogonadotropic Hypogonadism and Anosmia 49 24
Olfacto-Genital Pathological Sequence 49 55
Anosmic Hypogonadism 49 24
Kallman's Syndrome 12 24
Congenital Hypogonadotropic Hypogonadism with Anosmia 55
Familial Hypogonadism with Anosmia 12
Kallmann's Syndrome 49
Kallman Syndrome 12

Characteristics:

Orphanet epidemiological data:

55
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 : 49 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). Last updated: 6/22/2016

MalaCards based summary : Kallmann Syndrome, also known as hypogonadism with anosmia, is related to hypogonadotropic hypogonadism 7 with or without anosmia and anosmia, and has symptoms including cryptorchidism, hypogonadotrophic hypogonadism and micropenis. 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, breast and kidney, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Genetics Home Reference : 24 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).

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 101)
# Related Disease Score Top Affiliating Genes
1 hypogonadotropic hypogonadism 7 with or without anosmia 32.3 CCDC141 FEZF1 FGF17 FLRT3 IL17RD SPRY4
2 anosmia 30.8 ANOS1 FEZF1 FGF17 FGFR1 PROKR2 SPRY4
3 hypogonadotropic hypogonadism 30.8 ANOS1 CHD7 FGF17 FGF8 FGFR1 KISS1R
4 hypogonadism 30.8 ANOS1 CHD7 FGF17 FGF8 FGFR1 HS6ST1
5 charge syndrome 30.4 ANOS1 CHD7 FGF8 FGFR1 PROK2 PROKR2
6 kallmann syndrome with spastic paraplegia 12.2
7 kallmann syndrome 3 12.1
8 kallmann syndrome 4 12.1
9 kallmann syndrome 5 12.1
10 kallmann syndrome 6 12.1
11 hypogonadotropic hypogonadism 1 with or without anosmia 12.0
12 hypogonadotropic hypogonadism 2 with or without anosmia 11.9
13 brachytelephalangy with characteristic facies and kallmann syndrome 11.9
14 kallmann syndrome-heart disease syndrome 11.9
15 hypogonadotropic hypogonadism 3 with or without anosmia 11.6
16 hypogonadotropic hypogonadism 4 with or without anosmia 11.6
17 hypogonadotropic hypogonadism 5 with or without anosmia 11.6
18 hypogonadotropic hypogonadism 6 with or without anosmia 11.6
19 waardenburg syndrome, type 2e 11.4
20 septooptic dysplasia 11.2
21 hypogonadotropic hypogonadism 8 with or without anosmia 11.0
22 hypogonadotropic hypogonadism 9 with or without anosmia 11.0
23 hypogonadotropic hypogonadism 10 with or without anosmia 11.0
24 hypogonadotropic hypogonadism 11 with or without anosmia 11.0
25 hypogonadotropic hypogonadism 12 with or without anosmia 11.0
26 hypogonadotropic hypogonadism 13 with or without anosmia 11.0
27 hypogonadotropic hypogonadism 14 with or without anosmia 11.0
28 hypogonadotropic hypogonadism 15 with or without anosmia 11.0
29 hypogonadotropic hypogonadism 16 with or without anosmia 11.0
30 hypogonadotropic hypogonadism 17 with or without anosmia 11.0
31 hypogonadotropic hypogonadism 18 with or without anosmia 11.0
32 hypogonadotropic hypogonadism 19 with or without anosmia 11.0
33 hypogonadotropic hypogonadism 20 with or without anosmia 11.0
34 hypogonadotropic hypogonadism 21 with or without anosmia 11.0
35 hypogonadotropic hypogonadism 22 with or without anosmia 11.0
36 septo-optic dysplasia spectrum 10.8
37 anosmia, isolated congenital 10.8
38 hypogonadism, male 10.8
39 xp22.3 microdeletion syndrome 10.8
40 hartsfield syndrome 10.6 FGF8 FGFR1
41 gonadal disease 10.5 ANOS1 KISS1R PROK2 PROKR2
42 idiopathic central precocious puberty 10.5 KISS1R TACR3
43 cryptorchidism, unilateral or bilateral 10.5 ANOS1 CHD7 FGFR1 PROK2 PROKR2
44 microform holoprosencephaly 10.5 FGF8 FGFR1
45 pituitary stalk interruption syndrome 10.5 HESX1 PROKR2 WDR11
46 hypogonadotropism 10.4
47 lobar holoprosencephaly 10.4 FGF8 FGFR1
48 semilobar holoprosencephaly 10.3 FGF8 FGFR1
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:

55 31 (show all 46)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cryptorchidism 55 31 frequent (33%) Frequent (79-30%) HP:0000028
2 hypogonadotrophic hypogonadism 55 31 hallmark (90%) Very frequent (99-80%) HP:0000044
3 micropenis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000054
4 renal agenesis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000104
5 decreased fertility 55 31 hallmark (90%) Very frequent (99-80%) HP:0000144
6 cleft palate 55 31 occasional (7.5%) Occasional (29-5%) HP:0000175
7 sensorineural hearing impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0000407
8 anosmia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000458
9 visual impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0000505
10 ptosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000508
11 abnormality of color vision 55 31 occasional (7.5%) Occasional (29-5%) HP:0000551
12 nystagmus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000639
13 gynecomastia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000771
14 primary amenorrhea 55 31 occasional (7.5%) Occasional (29-5%) HP:0000786
15 delayed puberty 55 31 hallmark (90%) Very frequent (99-80%) HP:0000823
16 anterior hypopituitarism 55 31 hallmark (90%) Very frequent (99-80%) HP:0000830
17 seizures 55 31 occasional (7.5%) Occasional (29-5%) HP:0001250
18 ataxia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001251
19 muscular hypotonia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001252
20 dysarthria 55 31 occasional (7.5%) Occasional (29-5%) HP:0001260
21 gait disturbance 55 31 occasional (7.5%) Occasional (29-5%) HP:0001288
22 muscle weakness 55 31 occasional (7.5%) Occasional (29-5%) HP:0001324
23 bimanual synkinesia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001335
24 tremor 55 31 occasional (7.5%) Occasional (29-5%) HP:0001337
25 obesity 55 31 occasional (7.5%) Occasional (29-5%) HP:0001513
26 abnormality of the voice 55 31 frequent (33%) Frequent (79-30%) HP:0001608
27 pes cavus 55 31 occasional (7.5%) Occasional (29-5%) HP:0001761
28 pes planus 55 31 occasional (7.5%) Occasional (29-5%) HP:0001763
29 skeletal dysplasia 55 31 occasional (7.5%) Occasional (29-5%) HP:0002652
30 delayed skeletal maturation 55 31 occasional (7.5%) Occasional (29-5%) HP:0002750
31 recurrent fractures 55 31 occasional (7.5%) Occasional (29-5%) HP:0002757
32 breast hypoplasia 55 31 frequent (33%) Frequent (79-30%) HP:0003187
33 reduced bone mineral density 55 31 frequent (33%) Frequent (79-30%) HP:0004349
34 hyposmia 55 31 hallmark (90%) Very frequent (99-80%) HP:0004409
35 ichthyosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0008064
36 decreased testicular size 55 31 hallmark (90%) Very frequent (99-80%) HP:0008734
37 reduced number of teeth 55 31 occasional (7.5%) Occasional (29-5%) HP:0009804
38 paraplegia 55 31 occasional (7.5%) Occasional (29-5%) HP:0010550
39 dyspareunia 55 31 occasional (7.5%) Occasional (29-5%) HP:0030016
40 erectile abnormalities 55 31 hallmark (90%) Very frequent (99-80%) HP:0100639
41 abnormality of female internal genitalia 55 Occasional (29-5%)
42 malformation of the heart and great vessels 55 Occasional (29-5%)
43 hypothalamic gonadotropin-releasing hormone (gnrh) deficiency 55 Very frequent (99-80%)
44 hypoplasia of penis 55 Very frequent (99-80%)
45 hypothalamic gonadotropin-releasing hormone deficiency 31 hallmark (90%) HP:0003164
46 abnormality of cardiovascular system morphology 31 occasional (7.5%) HP:0030680

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

25 (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 SPRY4 SOX10
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 FGF17 SOX10
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 SOX10 FGF8
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 SOX10 SPRY4 FGF17 FGF8
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 FGF8 SOX10
23 Increased shRNA abundance (Z-score > 2) GR00366-A-92 9.83 FGF17

MGI Mouse Phenotypes related to Kallmann Syndrome:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.13 FGFR1 FLRT3 HESX1 HS6ST1 KISS1R PROKR2
2 behavior/neurological MP:0005386 10.1 CHD7 FEZF1 FGF17 FGF8 FGFR1 KISS1R
3 endocrine/exocrine gland MP:0005379 10.07 CHD7 FGF8 FGFR1 HESX1 HS6ST1 KISS1R
4 mortality/aging MP:0010768 9.93 FEZF1 FGF8 FGFR1 FLRT3 HESX1 HS6ST1
5 nervous system MP:0003631 9.83 CHD7 FEZF1 FGF17 FGF8 FGFR1 FLRT3
6 limbs/digits/tail MP:0005371 9.73 FGF8 FGFR1 HS6ST1 SOX10 SPRY4 CHD7
7 respiratory system MP:0005388 9.23 CHD7 FEZF1 FGF8 HESX1 HS6ST1 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 32051 23994
2
Menotropins Approved Phase 4 9002-68-0, 61489-71-2 5360545
3 Chorionic Gonadotropin Phase 4
4 Follicle Stimulating Hormone Phase 4,Phase 2
5 Hormone Antagonists Phase 4,Phase 2,Phase 1
6 Hormones Phase 4,Phase 2,Phase 1
7 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2,Phase 1
8 Fertility Agents Phase 4
9
Testosterone Approved, Investigational Phase 2,Phase 1 58-22-0 6013
10 Prolactin Release-Inhibiting Factors Phase 2
11
Methyltestosterone Approved Phase 1 58-18-4 6010
12
Anastrozole Approved, Investigational Phase 1 120511-73-1 2187
13 Anabolic Agents Phase 1
14 Androgens Phase 1
15 Antineoplastic Agents, Hormonal Phase 1
16 Hypoglycemic Agents Phase 1
17 insulin Phase 1
18 Insulin, Globin Zinc Phase 1
19 Steroid Synthesis Inhibitors Phase 1
20 Testosterone 17 beta-cypionate Phase 1
21
Testosterone enanthate Phase 1 315-37-7 9416
22 Testosterone undecanoate Phase 1
23 Estrogens Phase 1
24 Aromatase Inhibitors Phase 1
25 Estrogen Antagonists Phase 1
26
Ketoconazole Approved, Investigational 65277-42-1 3823 47576
27
Miconazole Approved, Investigational, Vet_approved 22916-47-8 4189
28
Estradiol Approved, Investigational, Vet_approved 50-28-2 5757
29
Estrone Approved 53-16-7 5870
30 Antifungal Agents
31 Anti-Infective Agents
32 Cytochrome P-450 CYP3A Inhibitors
33 Cytochrome P-450 Enzyme Inhibitors
34 Contraceptive Agents
35 Drospirenone and ethinyl estradiol combination
36 Estradiol 17 beta-cypionate
37 Estradiol 3-benzoate
38 Estradiol valerate 979-32-8
39 Estropipate 7280-37-7
40 Polyestradiol phosphate
41 Trisequens

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
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 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
11 Effect of Varying Testosterone Levels on Insulin Sensitivity in Normal and IHH Men Completed NCT00470990 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 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
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 gonadotropin releasing hormone (GnRH)
20 A Study to Characterize Epidemiology, Clinical and Genetic Features of Kallmann Syndrome in Finland Enrolling by invitation NCT00623116 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 28

Anatomical Context for Kallmann Syndrome

MalaCards organs/tissues related to Kallmann Syndrome:

38
Bone, Breast, Kidney, Olfactory Bulb, Testes, Heart, Brain

Publications for Kallmann Syndrome

Articles related to Kallmann Syndrome:

(show top 50) (show all 269)
# Title Authors Year
1
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
2
WDR11-mediated Hedgehog signalling defects underlie a new ciliopathy related to Kallmann syndrome. ( 29263200 )
2018
3
Spectral signatures of mirror movements in the sensori-motor connectivity in kallmann syndrome. ( 28963812 )
2018
4
Novel interstitial deletion in Xp22.3 in a typical X-linked recessive family with Kallmann syndrome. ( 29441621 )
2018
5
New intronic Fibroblast Growth Factor Receptor 1 (FGFR1) mutation leading to disrupted splicing and Kallmann syndrome. ( 29228280 )
2018
6
A rare ANOS1 variant in siblings with Kallmann syndrome identified by whole exome sequencing. ( 29211946 )
2018
7
Kallmann syndrome in pediatric otorhinolaryngology practice - Case report and literature review. ( 28802362 )
2017
8
Reconsidering olfactory bulb magnetic resonance patterns in Kallmann syndrome. ( 28807454 )
2017
9
Anti-MA1llerian Hormone and Ovarian Morphology in Women With Isolated Hypogonadotropic Hypogonadism/Kallmann Syndrome: Effects of Recombinant Human FSH. ( 28324034 )
2017
10
Kallmann syndrome with a Tyr113His PROKR2 mutation. ( 28858133 )
2017
11
Analysis of genetic and clinical characteristics of a Chinese Kallmann syndrome cohort with ANOS1 mutations. ( 28780519 )
2017
12
Anosmia with hypogonadism: but NOT Kallmann syndrome. ( 28416537 )
2017
13
Kallmann Syndrome and Chronic Myeloid Leukemia: A Rare Occurrence. ( 29319252 )
2017
14
Kallmann syndrome: phenotype and genotype of hypogonadotropic hypogonadism. ( 29108899 )
2017
15
Lack of decussation of pyramids in Kallmann syndrome presenting with mirror movements. ( 28017217 )
2017
16
Suprameatal Cochlear Implantation in a CHARGE Patient With a Novel CHD7 Variant and KALLMANN Syndrome Phenotype: A Case Report. ( 28609304 )
2017
17
A dominant negative FGFR1 mutation identified in a Kallmann syndrome patient. ( 28411082 )
2017
18
Induction of puberty with human chorionic gonadotropin (hCG) followed by reversal of hypogonadotropic hypogonadism in Kallmann syndrome. ( 29022642 )
2017
19
Arachnoid cyst: a further anomaly associated with Kallmann syndrome? ( 27379494 )
2016
20
Kallmann Syndrome and Chronic Myeloid Leukemia: A Rare Occurrence. ( 27766807 )
2016
21
Targeted next generation sequencing approach identifies eighteen new candidate genes in normosmic hypogonadotropic hypogonadism and Kallmann syndrome. ( 27502037 )
2016
22
Kallmann Syndrome: Eugenics and the Man behind the Eponym. ( 27101217 )
2016
23
Genetic sequencing of a patient with Kallmann syndrome plus 5I+-reductase type 2 deficiency. ( 26780871 )
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
Ataxia and focal dystonia in Kallmann syndrome. ( 26862419 )
2016
26
ANOS1: a unified nomenclature for Kallmann syndrome 1 gene (KAL1) and anosmin-1. ( 27899353 )
2016
27
Kallmann syndrome and deafness: an uncommon combination: A case report and a literature review. ( 27679830 )
2016
28
Reversal of congenital hypogonadotropic hypogonadism in a man with Kallmann syndrome due to SOX10 mutation. ( 27616149 )
2016
29
CCDC141 Mutation Identified in Anosmic Hypogonadotropic Hypogonadism (Kallmann Syndrome) Alters GnRH Neuronal Migration. ( 27014940 )
2016
30
Autoimmunity meets genetics: Multiple sclerosis in a patient with Kallmann syndrome. ( 27423600 )
2016
31
Arachnoid cyst: a further anomaly associated with Kallmann syndrome? ( 27406556 )
2016
32
Sublingual thyroid ectopy: similarities and differences with Kallmann syndrome. ( 25750738 )
2015
33
Kallmann syndrome with FGFR1 and KAL1 mutations detected during fetal life. ( 26051373 )
2015
34
Novel homozygous deletion of segmental KAL1 and entire STS cause Kallmann syndrome and X-linked ichthyosis in a Chinese family. ( 25597551 )
2015
35
Fertility and fragrance: another cause of Kallmann syndrome. ( 25985271 )
2015
36
Late-diagnosed Kallmann syndrome. ( 25475520 )
2015
37
Olfactory Agenesis in Kallmann Syndrome (KS). ( 26023587 )
2015
38
Magnetic Resonance Imaging Findings in Kallmann Syndrome: 14 Cases and Review of the Literature. ( 26571055 )
2015
39
Ichthyosis and Kallmann syndrome: Not always a contiguous gene syndrome. ( 25726327 )
2015
40
Dysfunctional SEMA3E signaling underlies gonadotropin-releasing hormone neuron deficiency in Kallmann syndrome. ( 25985275 )
2015
41
Loss-of-Function SOX10 Mutation in a Patient with Kallmann Syndrome, Hearing Loss, and Iris Hypopigmentation. ( 26228106 )
2015
42
Novel FGFR1 mutations in Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: evidence for the involvement of an alternatively spliced isoform. ( 26277103 )
2015
43
Novel FGFR1 and KISS1R Mutations in Chinese Kallmann Syndrome Males with Cleft Lip/Palate. ( 26199944 )
2015
44
Clinical, endocrinological, and molecular characterization of Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: a single center experience. ( 25883924 )
2015
45
Mutation analyses in pedigrees and sporadic cases of ethnic Han Chinese Kallmann syndrome patients. ( 26031747 )
2015
46
Flavor perception test: evaluation in patients with Kallmann syndrome. ( 26209039 )
2015
47
Point mutations in KAL1 and the mitochondrial gene MT-tRNA(cys) synergize to produce Kallmann syndrome phenotype. ( 26278626 )
2015
48
Congenital Hypogonadotropic Hypogonadism and Kallmann Syndrome: Past, Present, and Future. ( 26790381 )
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

Expression for Kallmann Syndrome

Search GEO for disease gene expression data for Kallmann Syndrome.

Pathways for Kallmann Syndrome

GO Terms for Kallmann Syndrome

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.98 FEZF1 FGF17 FGF8 FLRT3 HESX1 SEMA3A
2 MAPK cascade GO:0000165 9.83 FGF17 FGF8 FGFR1 IL17RD
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 9.67 ANOS1 FEZF1 FLRT3 SEMA3A
7 motor neuron axon guidance GO:0008045 9.58 FGF8 SEMA3A
8 inner ear morphogenesis GO:0042472 9.58 CHD7 FGF8 FGFR1
9 positive regulation of neuron migration GO:2001224 9.55 NSMF SEMA3A
10 aorta morphogenesis GO:0035909 9.54 CHD7 FGF8
11 generation of neurons GO:0048699 9.51 FGF8 FGFR1
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 9.33 FGF17 FGF8 FGFR1
16 nose development GO:0043584 9.32 CHD7 HESX1
17 otic vesicle formation GO:0030916 9.26 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 9.5 FGF17 FGF8 FGFR1
2 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.33 FGF17 FGF8 FGFR1
3 chemorepellent activity GO:0045499 9.26 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
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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