MCID: KLL001
MIFTS: 61

Kallmann Syndrome

Categories: Endocrine diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Kallmann Syndrome

MalaCards integrated aliases for Kallmann Syndrome:

Name: Kallmann Syndrome 12 52 25 58 54 43 15 39 39 71
Hypogonadism with Anosmia 12 25 29 6
Anosmic Idiopathic Hypogonadotropic Hypogonadism 52 25
Hypogonadotropic Hypogonadism-Anosmia Syndrome 52 25
Hypogonadotropic Hypogonadism and Anosmia 52 25
Olfacto-Genital Pathological Sequence 52 58
Anosmic Hypogonadism 52 25
Kallman's Syndrome 12 25
Congenital Hypogonadotropic Hypogonadism with Anosmia 58
Familial Hypogonadism with Anosmia 12
Kallmann's Syndrome 52
Kallman Syndrome 12

Characteristics:

Orphanet epidemiological data:

58
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:

Orphanet: 58  
Rare infertility disorders
Rare gynaecological and obstetric diseases
Rare endocrine diseases


Summaries for Kallmann Syndrome

Genetics Home Reference : 25 Kallmann syndrome is a condition characterized by delayed or absent puberty and an impaired sense of smell. This disorder is a form of hypogonadotropic hypogonadism, which is a condition resulting from a lack of production of certain hormones that direct sexual development. These hormones are normally made in a part of the brain called the hypothalamus. Males born with hypogonadotropic hypogonadism often have an unusually small penis (micropenis) and undescended testes (cryptorchidism). At puberty, most affected individuals do not develop secondary sex characteristics, such as the growth of facial hair and deepening of the voice in males, the start of monthly periods (menstruation) and breast development in females, and a growth spurt in both sexes. Without treatment, most affected men and women are unable to have biological children (infertile). In Kallmann syndrome, the sense of smell is either diminished (hyposmia) or completely absent (anosmia). This feature distinguishes Kallmann syndrome from most other forms of hypogonadotropic hypogonadism, which do not affect the sense of smell. Many people with Kallmann syndrome are not aware that they are unable to detect odors until the impairment is discovered through testing. Kallmann syndrome can have a wide variety of additional signs and symptoms. These include a failure of one kidney to develop (unilateral renal agenesis), abnormalities of bones in the fingers or toes, a cleft lip with or without an opening in the roof of the mouth (a cleft palate), abnormal eye movements, hearing loss, and abnormalities of tooth development. Some affected individuals have a feature called bimanual synkinesis, in which the movements of one hand are mirrored by the other hand. Bimanual synkinesis can make it difficult to do tasks that require the hands to move separately, such as playing a musical instrument.

MalaCards based summary : Kallmann Syndrome, also known as hypogonadism with anosmia, is related to hypogonadotropic hypogonadism and hypogonadotropic hypogonadism 7 with or without anosmia. An important gene associated with Kallmann Syndrome is FGFR1 (Fibroblast Growth Factor Receptor 1), and among its related pathways/superpathways are Immune response IFN alpha/beta signaling pathway and Negative regulation of FGFR3 signaling. 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 delayed puberty and anterior hypopituitarism

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

NIH Rare Diseases : 52 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).

Wikipedia : 74 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 230)
# Related Disease Score Top Affiliating Genes
1 hypogonadotropic hypogonadism 33.9 WDR11 TACR3 SPRY4 SEMA3A PROKR2 PROK2
2 hypogonadotropic hypogonadism 7 with or without anosmia 33.8 WDR11 SPRY4 PROKR2 IL17RD HS6ST1 FLRT3
3 septooptic dysplasia 33.5 PROKR2 PROK2 NSMF HESX1 FGFR1 FGF8
4 hypogonadism 33.0 WDR11 TACR3 SPRY4 SEMA3A PROKR2 PROK2
5 cryptorchidism, unilateral or bilateral 32.1 TACR3 SPRY4 PROKR2 PROK2 NSMF KISS1R
6 renal hypodysplasia/aplasia 1 32.0 PROKR2 PROK2 HS6ST1 FGFR1 FGF8 ANOS1
7 congenital hypogonadotropic hypogonadism 32.0 FGFR1 FGF8 CHD7 ANOS1
8 charge syndrome 31.9 TACR3 SOX10 SEMA3A PROKR2 PROK2 NSMF
9 normosmic congenital hypogonadotropic hypogonadism 31.9 WDR11 TACR3 SPRY4 PROKR2 PROK2 NSMF
10 coloboma of macula 31.8 TACR3 SOX10 PROKR2 PROK2 NSMF KISS1R
11 choanal atresia, posterior 31.5 TACR3 PROKR2 PROK2 NSMF FGFR1 FGF8
12 sensorineural hearing loss 31.2 TACR3 SOX10 PROKR2 FGFR1 FGF8 CHD7
13 hartsfield syndrome 31.1 FGFR1 FGF8
14 hypogonadotropic hypogonadism 23 without anosmia 30.9 PROKR2 FGFR1 ANOS1
15 hypopituitarism 30.9 PROKR2 PROK2 HESX1
16 kallmann syndrome with spastic paraplegia 12.5
17 kallmann syndrome 3 12.4
18 kallmann syndrome 6 12.4
19 hypogonadotropic hypogonadism 1 with or without anosmia 12.4
20 brachytelephalangy with characteristic facies and kallmann syndrome 12.2
21 kallmann syndrome 4 12.2
22 kallmann syndrome 5 12.2
23 hypogonadotropic hypogonadism 2 with or without anosmia 12.2
24 kallmann syndrome-heart disease syndrome 12.2
25 hypogonadotropic hypogonadism 3 with or without anosmia 12.1
26 hypogonadotropic hypogonadism 4 with or without anosmia 12.1
27 hypogonadotropic hypogonadism 5 with or without anosmia 12.1
28 hypogonadotropic hypogonadism 6 with or without anosmia 12.1
29 waardenburg syndrome, type 2e 11.9
30 hypogonadotropic hypogonadism 14 with or without anosmia 11.6
31 hypogonadotropic hypogonadism 16 with or without anosmia 11.6
32 hypogonadotropic hypogonadism 22 with or without anosmia 11.6
33 anosmia, isolated congenital 11.5
34 hypogonadotropic hypogonadism 8 with or without anosmia 11.3
35 hypogonadotropic hypogonadism 9 with or without anosmia 11.3
36 hypogonadotropic hypogonadism 10 with or without anosmia 11.3
37 hypogonadotropic hypogonadism 11 with or without anosmia 11.3
38 hypogonadotropic hypogonadism 12 with or without anosmia 11.3
39 hypogonadotropic hypogonadism 13 with or without anosmia 11.3
40 hypogonadotropic hypogonadism 15 with or without anosmia 11.3
41 hypogonadotropic hypogonadism 17 with or without anosmia 11.3
42 hypogonadotropic hypogonadism 18 with or without anosmia 11.3
43 hypogonadotropic hypogonadism 19 with or without anosmia 11.3
44 hypogonadotropic hypogonadism 20 with or without anosmia 11.3
45 hypogonadotropic hypogonadism 21 with or without anosmia 11.3
46 hypogonadism, male 11.1
47 metacarpal 4-5 fusion 11.1
48 tukel syndrome 11.1
49 xp22.3 microdeletion syndrome 11.1
50 orofacial cleft 10.8 SOX10 PROKR2 PROK2 FGFR1 FGF8 CHD7

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:

58 31 (show all 50)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed puberty 58 31 hallmark (90%) Very frequent (99-80%) HP:0000823
2 anterior hypopituitarism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000830
3 decreased fertility 58 31 hallmark (90%) Very frequent (99-80%) HP:0000144
4 micropenis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000054
5 anosmia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000458
6 decreased testicular size 58 31 hallmark (90%) Very frequent (99-80%) HP:0008734
7 hyposmia 58 31 hallmark (90%) Very frequent (99-80%) HP:0004409
8 hypogonadotropic hypogonadism 31 hallmark (90%) HP:0000044
9 hypothalamic gonadotropin-releasing hormone deficiency 31 hallmark (90%) HP:0003164
10 erectile dysfunction 31 hallmark (90%) HP:0100639
11 reduced bone mineral density 58 31 frequent (33%) Frequent (79-30%) HP:0004349
12 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
13 abnormality of the voice 58 31 frequent (33%) Frequent (79-30%) HP:0001608
14 breast hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0003187
15 skeletal dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002652
16 delayed skeletal maturation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002750
17 muscular hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001252
18 pes planus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001763
19 sensorineural hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000407
20 visual impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000505
21 ichthyosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0008064
22 muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0001324
23 gait disturbance 58 31 occasional (7.5%) Occasional (29-5%) HP:0001288
24 ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001251
25 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
26 tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0001337
27 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
28 primary amenorrhea 58 31 occasional (7.5%) Occasional (29-5%) HP:0000786
29 obesity 58 31 occasional (7.5%) Occasional (29-5%) HP:0001513
30 ptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000508
31 dysarthria 58 31 occasional (7.5%) Occasional (29-5%) HP:0001260
32 recurrent fractures 58 31 occasional (7.5%) Occasional (29-5%) HP:0002757
33 reduced number of teeth 58 31 occasional (7.5%) Occasional (29-5%) HP:0009804
34 pes cavus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001761
35 gynecomastia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000771
36 color vision defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0000551
37 dyspareunia 58 31 occasional (7.5%) Occasional (29-5%) HP:0030016
38 renal agenesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000104
39 paraplegia 58 31 occasional (7.5%) Occasional (29-5%) HP:0010550
40 bimanual synkinesia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001335
41 abnormality of cardiovascular system morphology 31 occasional (7.5%) HP:0030680
42 seizure 31 occasional (7.5%) HP:0001250
43 abnormal morphology of female internal genitalia 31 occasional (7.5%) HP:0000008
44 seizures 58 Occasional (29-5%)
45 malformation of the heart and great vessels 58 Occasional (29-5%)
46 erectile abnormalities 58 Very frequent (99-80%)
47 hypogonadotrophic hypogonadism 58 Very frequent (99-80%)
48 abnormality of female internal genitalia 58 Occasional (29-5%)
49 hypoplasia of penis 58 Very frequent (99-80%)
50 hypothalamic gonadotropin-releasing hormone (gnrh) deficiency 58 Very frequent (99-80%)

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

26 (show all 27)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-102 9.78 FGF17
2 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.78 SOX10
3 Increased shRNA abundance (Z-score > 2) GR00366-A-128 9.78 FGF8
4 Increased shRNA abundance (Z-score > 2) GR00366-A-139 9.78 FGF8
5 Increased shRNA abundance (Z-score > 2) GR00366-A-140 9.78 FGF8
6 Increased shRNA abundance (Z-score > 2) GR00366-A-153 9.78 FGF17
7 Increased shRNA abundance (Z-score > 2) GR00366-A-160 9.78 SPRY4
8 Increased shRNA abundance (Z-score > 2) GR00366-A-165 9.78 FGF17
9 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.78 FGF17 SOX10
10 Increased shRNA abundance (Z-score > 2) GR00366-A-18 9.78 SOX10
11 Increased shRNA abundance (Z-score > 2) GR00366-A-180 9.78 FGF8
12 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.78 SPRY4
13 Increased shRNA abundance (Z-score > 2) GR00366-A-205 9.78 FGF8
14 Increased shRNA abundance (Z-score > 2) GR00366-A-21 9.78 SPRY4
15 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.78 FGF17
16 Increased shRNA abundance (Z-score > 2) GR00366-A-26 9.78 SPRY4
17 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.78 FGF8
18 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.78 FGF8
19 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.78 SOX10
20 Increased shRNA abundance (Z-score > 2) GR00366-A-54 9.78 SPRY4
21 Increased shRNA abundance (Z-score > 2) GR00366-A-57 9.78 FGF8
22 Increased shRNA abundance (Z-score > 2) GR00366-A-65 9.78 SPRY4
23 Increased shRNA abundance (Z-score > 2) GR00366-A-68 9.78 SPRY4
24 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.78 SOX10
25 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.78 FGF8 SOX10
26 Increased shRNA abundance (Z-score > 2) GR00366-A-91 9.78 SOX10
27 Increased shRNA abundance (Z-score > 2) GR00366-A-92 9.78 FGF17

MGI Mouse Phenotypes related to Kallmann Syndrome:

45 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.34 CCDC141 CHD7 FEZF1 FGF17 FGF8 FGFR1
2 cellular MP:0005384 10.29 CCDC141 CHD7 FEZF1 FGF8 FGFR1 FLRT3
3 growth/size/body region MP:0005378 10.28 CCDC141 CHD7 FEZF1 FGF8 FGFR1 FLRT3
4 nervous system MP:0003631 10.19 CCDC141 CHD7 FEZF1 FGF17 FGF8 FGFR1
5 endocrine/exocrine gland MP:0005379 10.17 CHD7 FGF8 FGFR1 HESX1 HS6ST1 KISS1R
6 mortality/aging MP:0010768 10.17 CCDC141 CHD7 FEZF1 FGF8 FGFR1 FLRT3
7 embryo MP:0005380 10.06 CHD7 FGF8 FGFR1 FLRT3 HESX1 HS6ST1
8 craniofacial MP:0005382 10.04 CHD7 FEZF1 FGF8 FGFR1 HESX1 SPRY4
9 digestive/alimentary MP:0005381 10.02 CHD7 FGF8 FGFR1 KISS1R NSMF SOX10
10 limbs/digits/tail MP:0005371 9.91 CHD7 FGF8 FGFR1 HS6ST1 SOX10 SPRY4
11 reproductive system MP:0005389 9.81 CCDC141 CHD7 FGF8 FGFR1 KISS1R NSMF
12 respiratory system MP:0005388 9.61 CHD7 FEZF1 FGF8 HESX1 HS6ST1 SEMA3A
13 taste/olfaction MP:0005394 8.92 FEZF1 HESX1 NSMF WDR11

Drugs & Therapeutics for Kallmann Syndrome

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

(show all 36)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Zinc Approved, Investigational Phase 4 7440-66-6 32051
2
Menotropins Approved Phase 4 61489-71-2, 9002-68-0 5360545
3 Chorionic Gonadotropin Phase 4
4
Testosterone Approved, Experimental, Investigational Phase 2 58-22-0, 481-30-1 10204 6013
5 Hormone Antagonists Phase 2
6 Hormones Phase 2
7 Follicle Stimulating Hormone Phase 2
8
Testosterone enanthate Approved Phase 1 315-37-7 9416
9
Testosterone undecanoate Approved, Investigational Phase 1 5949-44-0
10
Methyltestosterone Approved Phase 1 58-18-4 6010
11
Anastrozole Approved, Investigational Phase 1 120511-73-1 2187
12 Testosterone 17 beta-cypionate Phase 1
13 Androgens Phase 1
14 Estrogens Phase 1
15 Insulin, Globin Zinc Phase 1
16 Antineoplastic Agents, Hormonal Phase 1
17 Estrogen Antagonists Phase 1
18 Estrogen Receptor Antagonists Phase 1
19 insulin Phase 1
20 Aromatase Inhibitors Phase 1
21
Ketoconazole Approved, Investigational 65277-42-1 47576
22
Clotrimazole Approved, Vet_approved 23593-75-1 2812
23
Miconazole Approved, Investigational, Vet_approved 22916-47-8 4189
24
Estradiol Approved, Investigational, Vet_approved 50-28-2 5757
25
Estrone Approved 53-16-7 5870
26
Polyestradiol phosphate Approved 28014-46-2
27 Acyline Investigational 170157-13-8
28 Cytochrome P-450 Enzyme Inhibitors
29 Anti-Infective Agents
30 Antifungal Agents
31 Cytochrome P-450 CYP3A Inhibitors
32 Estradiol 17 beta-cypionate
33 Drospirenone and ethinyl estradiol combination
34 Estradiol 3-benzoate
35 Trisequens
36 Estropipate 7280-37-7

Interventional clinical trials:

(show all 20)
# Name Status NCT ID Phase Drugs
1 Human Menopausal Gonadotropin Combining With Human Chorionic Gonadotropin is Superior to Human Chorionic Gonadotropin in Therapeutic Efficacy in Adolescent Boys With Congenital Hypogonadotropic Hypogonadism Unknown status NCT02880280 Phase 4 Human Menopausal Gonadotropin;Human Chorionic Gonadotropin
2 Efficacy and Safety of Human Chorionic Gonadotropin (HCG) and Follicle Stimulating Hormone (FSH) in the Treatment of Hypogonadotropic Hypogonadism Completed NCT01403532 Phase 4 Traditional intervention for HH using HCG and FSH;Sequential intervention for HH using HCG and FSH;Sequential intervention for HH using HCG and FSH plus zinc
3 Efficacy and Safety of Long Term Use of hCG or hCG Plus hMG in the Treatment of Male Patients With Isolated Hypogonadotropic Hypogonadism: an Open, Randomized Controlled Study Recruiting NCT03687606 Phase 4 Human Chorionic Gonadotropin;human menopausal gonadotropin
4 Pulsatile GnRH in Anovulatory Infertility Recruiting NCT00383656 Phase 2 GnRH
5 Role of FSH in Human Gonadal Development Terminated NCT00064987 Phase 2 gonadotropin releasing hormone (GnRH);follicle stimulating hormone (FSH)
6 Kisspeptin Administration in the Adult Recruiting NCT00914823 Phase 1 kisspeptin 112-121;GnRH
7 Kisspeptin in the Evaluation of Delayed Puberty Recruiting NCT01438034 Phase 1 kisspeptin 112-121;GnRH
8 Effect of Varying Testosterone Levels on Insulin Sensitivity in Men With Idiopathic Hypogonadotropic Hypogonadism Terminated NCT03118479 Phase 1 Anastrozole Pill;Testosterone;Placebo Oral Tablet
9 Factors Affecting Health Promoting Behavior in Rare Disease Patients: A Mixed Methods Study of Men With Congenital Hypogonadotropic Hypogonadism (CHH) Completed NCT01914172
10 Feedback Control of FSH Secretion in the Human Male Completed NCT00392457 ketoconazole;gonadotropin releasing hormone (GnRH)
11 Effect of Varying Testosterone Levels on Insulin Sensitivity in Normal and IHH Men Completed NCT00470990 GnRH antagonist (Acyline)
12 Baselines in Reproductive Disorders Recruiting NCT00456274
13 The Genetic Investigation of Reproductive Disorders (Including Kallmann Syndrome) Recruiting NCT01601171
14 Role of Gonadotropin Pulsations in the Reversal of Hypogonadotropic Hypogonadism Recruiting NCT00392756 gonadotropin releasing hormone (GnRH)
15 Molecular Basis of Inherited Reproductive Disorders Recruiting NCT00494169
16 The Role of Gonadotropin Pulsations in the Regulation of Puberty and Fertility Recruiting NCT01511588
17 The Molecular Basis of Inherited Reproductive Disorders Recruiting NCT01500447
18 The Effects of 7 Days of Exogenous Pulsatile GnRH Treatment on the Pituitary-Gonadal Axis in Hypogonadotropic Hypogonadal Subjects Active, not recruiting NCT00493961 gonadotropin releasing hormone (GnRH)
19 Kallmann Syndrome in Finland Enrolling by invitation NCT00623116 Short withdrawal of testosterone, gonadotropins or estrogenic compounds (see below)
20 Psychological Outcomes in Isolated GNRH Deficiency Terminated NCT02356172

Search NIH Clinical Center for 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:

40
Bone, Breast, Kidney, Testes, Brain, Pituitary, Hypothalamus

Publications for Kallmann Syndrome

Articles related to Kallmann Syndrome:

(show top 50) (show all 711)
# Title Authors PMID Year
1
PROKR2 missense mutations associated with Kallmann syndrome impair receptor signalling activity. 61 54 6
18826963 2009
2
Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice. 61 54 6
18596921 2008
3
Biallelic mutations in the prokineticin-2 gene in two sporadic cases of Kallmann syndrome. 54 6 61
18285834 2008
4
Loss-of-function mutation in the prokineticin 2 gene causes Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism. 6 61 54
17959774 2007
5
Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism. 61 54 6
17235395 2007
6
Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2. 54 61 6
17054399 2006
7
Novel fibroblast growth factor receptor 1 mutations in patients with congenital hypogonadotropic hypogonadism with and without anosmia. 61 54 6
16882753 2006
8
Mutations in fibroblast growth factor receptor 1 cause both Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism. 6 54 61
16606836 2006
9
Characterization of the human nasal embryonic LHRH factor gene, NELF, and a mutation screening among 65 patients with idiopathic hypogonadotropic hypogonadism (IHH). 6 54 61
15362570 2004
10
X chromosome-linked Kallmann syndrome: clinical heterogeneity in three siblings carrying an intragenic deletion of the KAL-1 gene. 54 6 61
12727945 2003
11
Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. 6 54 61
12627230 2003
12
X chromosome-linked Kallmann syndrome: stop mutations validate the candidate gene. 61 54 6
1518845 1992
13
Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism. 61 6
23643382 2013
14
SEMA3A, a gene involved in axonal pathfinding, is mutated in patients with Kallmann syndrome. 61 6
22927827 2012
15
SEMA3A deletion in a family with Kallmann syndrome validates the role of semaphorin 3A in human puberty and olfactory system development. 6 61
22416012 2012
16
WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. 61 6
20887964 2010
17
Nonsense mutations in FGF8 gene causing different degrees of human gonadotropin-releasing deficiency. 6 61
20463092 2010
18
Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. 61 6
18834967 2008
19
Mutations in prokineticin 2 and prokineticin receptor 2 genes in human gonadotrophin-releasing hormone deficiency: molecular genetics and clinical spectrum. 61 6
18559922 2008
20
Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency 61 6
20301509 2007
21
A mutation in the fibroblast growth factor receptor 1 gene causes fully penetrant normosmic isolated hypogonadotropic hypogonadism. 6 61
17200176 2007
22
Identification of three novel mutations in the KAL1 gene in patients with Kallmann syndrome. 6 61
12050219 2002
23
Contiguous gene syndrome due to deletion of the first three exons of the Kallmann gene and complete deletion of the steroid sulphatase gene. 6 61
9713559 1998
24
A recurrent missense mutation in the KAL gene in patients with X-linked Kallmann's syndrome. 6 54
9589672 1998
25
Brief report: intragenic deletion of the KALIG-1 gene in Kallmann's syndrome. 54 6
1594017 1992
26
Heparan sulfate 6-O-sulfotransferase 1, a gene involved in extracellular sugar modifications, is mutated in patients with idiopathic hypogonadotrophic hypogonadism. 6
21700882 2011
27
TAC3/TACR3 mutations reveal preferential activation of gonadotropin-releasing hormone release by neurokinin B in neonatal life followed by reversal in adulthood. 6
20332248 2010
28
A Hypomorphic Allele in the FGF8 Gene Contributes to Holoprosencephaly and Is Allelic to Gonadotropin-Releasing Hormone Deficiency in Humans. 6
21045958 2010
29
TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction. 6
19079066 2009
30
Familial CHARGE syndrome and the CHD7 gene: a recurrent missense mutation, intrafamilial recurrence and variability. 6
18074359 2008
31
Successful use of pulsatile gonadotropin-releasing hormone (GnRH) for ovulation induction and pregnancy in a patient with GnRH receptor mutations. 6
10690855 2000
32
Sequence analysis of a partial deletion of the human steroid sulfatase gene reveals 3 bp of homology at deletion breakpoints. 6
1639422 1992
33
Nonhomologous recombination in the human genome: deletions in the human factor VIII gene. 6
1904396 1991
34
The syndrome of anosmia with hypogonadotropic hypogonadism: a genetic study of 18 new families and a review. 6
6881209 1983
35
Novel insights in FGFR1 regulation: lessons from Kallmann syndrome. 61 54
20117945 2010
36
Congenital hypogonadotropic hypogonadism in females: clinical spectrum, evaluation and genetics. 54 61
20363464 2010
37
A case of Kallmann syndrome carrying a missense mutation in alternatively spliced exon 8A encoding the immunoglobulin-like domain IIIb of fibroblast growth factor receptor 1. 54 61
20139426 2010
38
Screening of autosomal gene deletions in patients with hypogonadotropic hypogonadism using multiplex ligation-dependent probe amplification: detection of a hemizygosis for the fibroblast growth factor receptor 1. 61 54
19489874 2010
39
A comparative phenotypic study of kallmann syndrome patients carrying monoallelic and biallelic mutations in the prokineticin 2 or prokineticin receptor 2 genes. 61 54
20022991 2010
40
Impaired fibroblast growth factor receptor 1 signaling as a cause of normosmic idiopathic hypogonadotropic hypogonadism. 61 54
19820032 2009
41
Anosmin-1a is required for fasciculation and terminal targeting of olfactory sensory neuron axons in the zebrafish olfactory system. 54 61
19464344 2009
42
Genetic analysis in patients with Kallmann syndrome: coexistence of mutations in prokineticin receptor 2 and KAL1. 61 54
18723471 2009
43
Homozygous mutation in the prokineticin-receptor2 gene (Val274Asp) presenting as reversible Kallmann syndrome and persistent oligozoospermia: case report. 54 61
18596028 2008
44
Loss-of-function mutations in the genes encoding prokineticin-2 or prokineticin receptor-2 cause autosomal recessive Kallmann syndrome. 61 54
18682503 2008
45
The prevalence of intragenic deletions in patients with idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. 54 61
18463157 2008
46
Diversity in fibroblast growth factor receptor 1 regulation: learning from the investigation of Kallmann syndrome. 61 54
18034870 2008
47
New genes controlling human reproduction and how you find them. 61 54
18596868 2008
48
Clinical manifestations of impaired GnRH neuron development and function. 61 54
18253056 2008
49
Testicular expressed genes are missing in familial X-Linked Kallmann syndrome due to two large different deletions in daughter's X chromosomes. 54 61
18259106 2008
50
The complex genetics of Kallmann syndrome: KAL1, FGFR1, FGF8, PROKR2, PROK2, et al. 54 61
18987492 2008

Variations for Kallmann Syndrome

ClinVar genetic disease variations for Kallmann Syndrome:

6 (show all 26) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FGFR1 deletion Pathogenic 635961 8:38320755-38328265
2 CHD7 NM_017780.4(CHD7):c.3222C>T (p.Ser1074=)SNV Conflicting interpretations of pathogenicity 363458 rs199675568 8:61736419-61736419 8:60823860-60823860
3 CHD7 NM_017780.4(CHD7):c.*1663_*1664AG[1]short repeat Uncertain significance 363509 rs761460675 8:61780154-61780155 8:60867595-60867596
4 CHD7 NM_017780.4(CHD7):c.-466delinsGGCGGCAGCGindel Uncertain significance 363425 rs886063026 8:61591350-61591350 8:60678791-60678791
5 CHD7 NM_017780.4(CHD7):c.-466delinsGGCGGCGGCGGCGindel Uncertain significance 363428 rs886063026 8:61591350-61591350 8:60678791-60678791
6 CHD7 NM_017780.4(CHD7):c.-490_-488GGC[9]short repeat Uncertain significance 363419 rs886063023 8:61591323-61591324 8:60678764-60678765
7 CHD7 NM_017780.4(CHD7):c.-466delinsGGCGGCGGCGindel Uncertain significance 363426 rs886063026 8:61591350-61591350 8:60678791-60678791
8 CHD7 NM_017780.4(CHD7):c.-466delinsGGCGGCGGCGGCAGCGindel Uncertain significance 363427 rs886063026 8:61591350-61591350 8:60678791-60678791
9 CHD7 NM_017780.4(CHD7):c.6321C>T (p.His2107=)SNV Uncertain significance 363472 rs778800676 8:61765605-61765605 8:60853046-60853046
10 CHD7 NM_017780.4(CHD7):c.8960_8962del (p.Gly2987del)deletion Uncertain significance 363488 rs771806027 8:61778454-61778456 8:60865895-60865897
11 CHD7 NM_017780.4(CHD7):c.4811G>C (p.Ser1604Thr)SNV Uncertain significance 363462 rs367722051 8:61754572-61754572 8:60842013-60842013
12 CHD7 NM_017780.4(CHD7):c.-466_-461deldeletion Uncertain significance 363422 rs886063025 8:61591345-61591350 8:60678786-60678791
13 CHD7 NM_017780.4(CHD7):c.-465_-463GCG[8]short repeat Uncertain significance 363432 rs71245513 8:61591350-61591351 8:60678791-60678792
14 CHD7 NM_017780.4(CHD7):c.892A>G (p.Thr298Ala)SNV Uncertain significance 363444 rs886063033 8:61654883-61654883 8:60742324-60742324
15 CHD7 NM_017780.4(CHD7):c.*338deldeletion Uncertain significance 363494 rs886063045 8:61778830-61778830 8:60866271-60866271
16 CHD7 NM_017780.4(CHD7):c.-490_-488GGC[10]short repeat Uncertain significance 363418 rs886063023 8:61591323-61591324 8:60678764-60678765
17 CHD7 NM_017780.4(CHD7):c.-467_-466insGGCAGCinsertion Uncertain significance 363424 rs1554568913 8:61591347-61591348 8:60678788-60678789
18 CHD7 NM_017780.4(CHD7):c.-466delinsGGCGGCGGCGGCGGCGGCGindel Uncertain significance 363429 rs886063026 8:61591350-61591350 8:60678791-60678791
19 CHD7 NM_017780.4(CHD7):c.-466delinsGGCGGCGGCGGCGGCGGCGGCGindel Uncertain significance 363430 rs886063026 8:61591350-61591350 8:60678791-60678791
20 CHD7 NM_017780.4(CHD7):c.-466delinsGGCGGCGGCGGCGGCGGCGGCGGCGindel Uncertain significance 363431 rs886063026 8:61591350-61591350 8:60678791-60678791
21 SRA1 NM_001035235.3(SRA1):c.377G>A (p.Arg126His)SNV Uncertain significance 638187 rs1306465994 5:139931580-139931580 5:140551995-140551995
22 CHD7 NM_017780.4(CHD7):c.*1644A>GSNV Uncertain significance 363508 rs886063053 8:61780136-61780136 8:60867577-60867577
23 CHD7 NM_017780.3(CHD7):c.*2104T>ASNV Likely benign 369612 rs16926520 8:61780596-61780596 8:60868037-60868037
24 FGFR1 NM_015850.4(FGFR1):c.*2104deldeletion Likely benign 362858 rs201364530 8:38269042-38269042 8:38411524-38411524
25 CHD7 NM_017780.4(CHD7):c.2053_2058dup (p.Ala685_Lys686dup)duplication Benign/Likely benign 95776 rs377139749 8:61693942-61693943 8:60781383-60781384
26 CHD7 NM_017780.4(CHD7):c.*127deldeletion Benign 363491 rs11322994 8:61778610-61778610 8:60866051-60866051

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 TACR3 SEMA3A PROKR2 KISS1R HS6ST1 FLRT3

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 MAPK cascade GO:0000165 9.81 IL17RD FGFR1 FGF8 FGF17
2 multicellular organism development GO:0007275 9.76 SPRY4 SEMA3A HESX1 FLRT3 FGFR1 FGF8
3 neuron migration GO:0001764 9.74 SEMA3A FGFR1 FEZF1
4 axon guidance GO:0007411 9.73 SEMA3A FLRT3 FEZF1 ANOS1
5 neuropeptide signaling pathway GO:0007218 9.72 PROKR2 PROK2 KISS1R
6 head development GO:0060322 9.56 WDR11 FLRT3
7 positive regulation of neuron migration GO:2001224 9.54 SEMA3A NSMF
8 inner ear morphogenesis GO:0042472 9.54 FGFR1 FGF8 CHD7
9 aorta morphogenesis GO:0035909 9.52 FGF8 CHD7
10 generation of neurons GO:0048699 9.49 FGFR1 FGF8
11 branching involved in salivary gland morphogenesis GO:0060445 9.48 FGFR1 FGF8
12 organ induction GO:0001759 9.46 FGFR1 FGF8
13 forebrain morphogenesis GO:0048853 9.4 HESX1 FGF8
14 nose development GO:0043584 9.32 HESX1 CHD7
15 otic vesicle formation GO:0030916 9.26 HESX1 FGF8
16 olfactory bulb development GO:0021772 9.13 SEMA3A FEZF1 CHD7
17 fibroblast growth factor receptor signaling pathway GO:0008543 9.02 FLRT3 FGFR1 FGF8 FGF17 ANOS1

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

# Name GO ID Score Top Affiliating Genes
1 fibroblast growth factor receptor binding GO:0005104 8.8 FLRT3 FGF8 FGF17

Sources for Kallmann Syndrome

3 CDC
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