MCID: KLL001
MIFTS: 61

Kallmann Syndrome malady

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

Aliases & Classifications for Kallmann Syndrome

Aliases & Descriptions for Kallmann Syndrome:

Name: Kallmann Syndrome 12 50 25 56 52 42 14 69
Hypogonadism with Anosmia 12 25 29
Anosmic Idiopathic Hypogonadotropic Hypogonadism 50 25
Hypogonadotropic Hypogonadism-Anosmia Syndrome 50 25
Hypogonadotropic Hypogonadism and Anosmia 50 25
Olfacto-Genital Pathological Sequence 50 56
Anosmic Hypogonadism 50 25
Kallman's Syndrome 12 25
Congenital Hypogonadotropic Hypogonadism with Anosmia 56
Familial Hypogonadism with Anosmia 12
Kallmann's Syndrome 50
Kallman Syndrome 12

Characteristics:

Orphanet epidemiological data:

56
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:



External Ids:

Disease Ontology 12 DOID:3614
ICD10 33 E23.0
MeSH 42 D017436
NCIt 47 C75479
Orphanet 56 ORPHA478
MESH via Orphanet 43 D017436
ICD10 via Orphanet 34 E23.0
UMLS via Orphanet 70 C0162809
UMLS 69 C0162809

Summaries for Kallmann Syndrome

NIH Rare Diseases : 50 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 an unusually 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 kallmann syndrome 3 and kallmann syndrome 4, and has symptoms including ataxia, seizures and tremor. An important gene associated with Kallmann Syndrome is ANOS1 (Anosmin 1), and among its related pathways/superpathways are Negative regulation of FGFR1 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 growth/size/body region

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

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

Wikipedia : 71 Kallmann syndrome is a rare genetic condition that is characterized by a failure to start or a failure... 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 83)
id Related Disease Score Top Affiliating Genes
1 kallmann syndrome 3 11.8
2 kallmann syndrome 4 11.8
3 kallmann syndrome 5 11.8
4 kallmann syndrome 6 11.8
5 brachytelephalangy with characteristic facies and kallmann syndrome 11.8
6 kallmann syndrome-heart disease syndrome 11.7
7 hypogonadotropic hypogonadism 1 with or without anosmia 11.7
8 hypogonadotropic hypogonadism 2 with or without anosmia 11.6
9 hypogonadotropic hypogonadism 4 with or without anosmia 11.5
10 hypogonadotropic hypogonadism 5 with or without anosmia 11.5
11 hypogonadotropic hypogonadism 6 with or without anosmia 11.5
12 hypogonadotropic hypogonadism 3 with or without anosmia 11.5
13 waardenburg syndrome, type 2e, with or without neurologic involvement 11.3
14 anos1-related isolated gonadotropin-releasing hormone deficiency 10.9
15 fgfr1-related isolated gonadotropin-releasing hormone deficiency 10.9
16 hypogonadotropic hypogonadism 13 with or without anosmia 10.9
17 hypogonadotropic hypogonadism 15 with or without anosmia 10.9
18 hypogonadotropic hypogonadism 18 with or without anosmia 10.9
19 hypogonadotropic hypogonadism 7 without anosmia 10.9
20 hypogonadotropic hypogonadism 11 with or without anosmia 10.9
21 hypogonadotropic hypogonadism 17 with or without anosmia 10.9
22 hypogonadotropic hypogonadism 16 with or without anosmia 10.9
23 hypogonadotropic hypogonadism with or without anosmia 10.9
24 hypogonadotropic hypogonadism 20 with or without anosmia 10.9
25 hypogonadotropic hypogonadism 12 with or without anosmia 10.9
26 hypogonadotropic hypogonadism 9 with or without anosmia 10.9
27 hypogonadotropic hypogonadism 14 with or without anosmia 10.9
28 hypogonadotropic hypogonadism 10 with or without anosmia 10.9
29 hypogonadotropic hypogonadism 19 with or without anosmia 10.9
30 hypogonadotropic hypogonadism 8 with or without anosmia 10.9
31 hypogonadotropic hypogonadism 21 with anosmia 10.9
32 chd7-related isolated gonadotropin-releasing hormone deficiency 10.8
33 fgf8-related isolated gonadotropin-releasing hormone deficiency 10.8
34 prok2-related isolated gonadotropin-releasing hormone deficiency 10.8
35 prokr2-related isolated gonadotropin-releasing hormone deficiency 10.8
36 anosmia, isolated congenital 10.7
37 septooptic dysplasia 10.7
38 septo-optic dysplasia spectrum 10.7
39 hypogonadism 10.4
40 hypogonadotropism 10.3
41 malignant melanoma of the mucosa 10.3 KISS1R TACR3
42 capillary lymphangioma 10.2 ANOS1 KISS1R PROK2 PROKR2
43 microvascular complications of diabetes 5 10.2 ANOS1 CHD7 FGF8 FGFR1 PROK2 PROKR2
44 shwachman-diamond type metaphyseal dysplasia 10.1 ANOS1 KISS1R PROK2 PROKR2
45 neuronitis 10.1
46 ichthyosis 10.1
47 lis1-associated lissencephaly/subcortical band heterotopia 10.0 ANOS1 CHD7 FGF8 FGFR1 HS6ST1 KISS1R
48 schizophrenia 9.8
49 charge syndrome 9.8
50 ocular albinism 9.8

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:

56 32 (show all 46)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 56 32 Occasional (29-5%) HP:0001251
2 seizures 56 32 Occasional (29-5%) HP:0001250
3 tremor 56 32 Occasional (29-5%) HP:0001337
4 muscle weakness 56 32 Occasional (29-5%) HP:0001324
5 anosmia 56 32 Very frequent (99-80%) HP:0000458
6 hyposmia 56 32 Very frequent (99-80%) HP:0004409
7 obesity 56 32 Occasional (29-5%) HP:0001513
8 ptosis 56 32 Occasional (29-5%) HP:0000508
9 nystagmus 56 32 Occasional (29-5%) HP:0000639
10 muscular hypotonia 56 32 Occasional (29-5%) HP:0001252
11 dysarthria 56 32 Occasional (29-5%) HP:0001260
12 gait disturbance 56 32 Occasional (29-5%) HP:0001288
13 skeletal dysplasia 56 32 Occasional (29-5%) HP:0002652
14 delayed skeletal maturation 56 32 Occasional (29-5%) HP:0002750
15 pes planus 56 32 Occasional (29-5%) HP:0001763
16 sensorineural hearing impairment 56 32 Occasional (29-5%) HP:0000407
17 visual impairment 56 32 Occasional (29-5%) HP:0000505
18 ichthyosis 56 32 Occasional (29-5%) HP:0008064
19 delayed puberty 56 32 Very frequent (99-80%) HP:0000823
20 cleft palate 56 32 Occasional (29-5%) HP:0000175
21 reduced bone mineral density 56 32 Frequent (79-30%) HP:0004349
22 cryptorchidism 56 32 Frequent (79-30%) HP:0000028
23 primary amenorrhea 56 32 Occasional (29-5%) HP:0000786
24 pes cavus 56 32 Occasional (29-5%) HP:0001761
25 hypogonadotrophic hypogonadism 56 32 Very frequent (99-80%) HP:0000044
26 anterior hypopituitarism 56 32 Very frequent (99-80%) HP:0000830
27 decreased testicular size 56 32 Very frequent (99-80%) HP:0008734
28 abnormality of the voice 56 32 Frequent (79-30%) HP:0001608
29 decreased fertility 56 32 Very frequent (99-80%) HP:0000144
30 recurrent fractures 56 32 Occasional (29-5%) HP:0002757
31 reduced number of teeth 56 32 Occasional (29-5%) HP:0009804
32 abnormality of color vision 56 32 Occasional (29-5%) HP:0000551
33 gynecomastia 56 32 Occasional (29-5%) HP:0000771
34 erectile abnormalities 56 32 Very frequent (99-80%) HP:0100639
35 dyspareunia 56 32 Occasional (29-5%) HP:0030016
36 micropenis 56 32 Very frequent (99-80%) HP:0000054
37 renal agenesis 56 32 Occasional (29-5%) HP:0000104
38 breast hypoplasia 56 32 Frequent (79-30%) HP:0003187
39 paraplegia 56 32 Occasional (29-5%) HP:0010550
40 bimanual synkinesia 56 32 Occasional (29-5%) HP:0001335
41 malformation of the heart and great vessels 56 Occasional (29-5%)
42 hypoplasia of penis 56 Very frequent (99-80%)
43 abnormality of female internal genitalia 56 Occasional (29-5%)
44 abnormality of cardiovascular system morphology 32 HP:0030680
45 hypothalamic gonadotropin-releasing hormone (gnrh) deficiency 56 Very frequent (99-80%)
46 hypothalamic gonadotropin-releasing hormone deficiency 32 HP:0003164

UMLS symptoms related to Kallmann Syndrome:


anosmia

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-101 9.83 FGF8
2 Increased shRNA abundance (Z-score > 2) GR00366-A-102 9.83 FGF17
3 Increased shRNA abundance (Z-score > 2) GR00366-A-103 9.83 SOX10
4 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.83 SOX10 SPRY4
5 Increased shRNA abundance (Z-score > 2) GR00366-A-128 9.83 FGF8
6 Increased shRNA abundance (Z-score > 2) GR00366-A-140 9.83 FGF8
7 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.83 SPRY4
8 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.83 SOX10 FGF17
9 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.83 SPRY4
10 Increased shRNA abundance (Z-score > 2) GR00366-A-205 9.83 FGF8
11 Increased shRNA abundance (Z-score > 2) GR00366-A-21 9.83 SPRY4
12 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.83 FGF17
13 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.83 FGF8 SOX10
14 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.83 FGF8
15 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.83 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 SOX10 FGF8
23 Increased shRNA abundance (Z-score > 2) GR00366-A-92 9.83 FGF17

MGI Mouse Phenotypes related to Kallmann Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.21 CHD7 DUSP6 FEZF1 FGF8 FGFR1 FLRT3
2 cellular MP:0005384 10.2 DUSP6 FEZF1 FGF8 FGFR1 FLRT3 HS6ST1
3 behavior/neurological MP:0005386 10.18 PROKR2 SEMA3A SOX10 TACR3 CHD7 FEZF1
4 endocrine/exocrine gland MP:0005379 10.1 CHD7 FGF8 FGFR1 HESX1 HS6ST1 KISS1R
5 craniofacial MP:0005382 9.98 CHD7 DUSP6 FEZF1 FGF8 FGFR1 HESX1
6 mortality/aging MP:0010768 9.97 PROKR2 SEMA3A SOX10 SPRY4 CHD7 DUSP6
7 nervous system MP:0003631 9.83 SEMA3A SOX10 SPRY4 CHD7 FEZF1 FGF17
8 hearing/vestibular/ear MP:0005377 9.8 CHD7 DUSP6 FGF8 FGFR1 HESX1 IL17RD
9 limbs/digits/tail MP:0005371 9.73 CHD7 FGF8 FGFR1 HS6ST1 SOX10 SPRY4
10 respiratory system MP:0005388 9.23 FEZF1 FGF8 HESX1 HS6ST1 SEMA3A SOX10

Drugs & Therapeutics for Kallmann Syndrome

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

(show all 40)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Zinc Approved Phase 4 7440-66-6 32051 23994
2
Menotropins Approved Phase 4 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
Methyltestosterone Approved Phase 2,Phase 1 58-18-4 6010
11 Testosterone undecanoate Phase 2,Phase 1
12 Testosterone 17 beta-cypionate Phase 2,Phase 1
13
Testosterone enanthate Phase 2,Phase 1 315-37-7 9416
14
Anastrozole Approved, Investigational Phase 1 120511-73-1 2187
15 insulin Phase 1
16 Steroid Synthesis Inhibitors Phase 1
17 Anabolic Agents Phase 1
18 Androgens Phase 1
19 Hypoglycemic Agents Phase 1
20 Insulin, Globin Zinc Phase 1
21 Antineoplastic Agents, Hormonal Phase 1
22 Estrogens Phase 1
23 Estrogen Antagonists Phase 1
24 Aromatase Inhibitors Phase 1
25
Ketoconazole Approved, Investigational 65277-42-1 47576 3823
26
Miconazole Approved, Investigational, Vet_approved 22916-47-8 4189
27
Estradiol Approved, Investigational, Vet_approved 50-28-2 5757 53477783
28
Estrone Approved 53-16-7 5870
29 Cytochrome P-450 CYP3A Inhibitors
30 Cytochrome P-450 Enzyme Inhibitors
31 Anti-Infective Agents
32 Antifungal Agents
33 Estradiol valerate 979-32-8
34 Estropipate 7280-37-7
35 Contraceptive Agents
36 Trisequens
37 Drospirenone and ethinyl estradiol combination
38 Estradiol 17 beta-cypionate
39 Estradiol 3-benzoate
40 Polyestradiol phosphate

Interventional clinical trials:

(show all 20)
id Name Status NCT ID Phase
1 Sequential Therapy for Hypogonadotropic Hypogonadism Completed NCT01403532 Phase 4
2 Human Menopausal Gonadotropin Combining With Human Chorionic Gonadotropin Treat Congenital Hypogonadotropic Hypogonadism Recruiting NCT02880280 Phase 4
3 Pulsatile GnRH in Anovulatory Infertility Recruiting NCT00383656 Phase 2
4 Follicle Stimulating Hormone (FSH) to Improve Testicular Development in Men With Hypogonadism Terminated NCT00064987 Phase 2
5 Kisspeptin in the Evaluation of Delayed Puberty Recruiting NCT01438034 Phase 1
6 Administration of Kisspeptin to Subjects With Reproductive Disorders Recruiting NCT00914823 Phase 1
7 Effect of Varying Testosterone Levels on Insulin Sensitivity in Men With Idiopathic Hypogonadotropic Hypogonadism (IHH) Terminated NCT03118479 Phase 1
8 Investigating the Regulation of Reproductive Hormones in Adult Men Completed NCT00392457
9 Study of a Large Family With Congenital Mirror Movements : From Underlying Pathophysiology to Culprit Gene Identification PROJET " MOMIC " Completed NCT01075061
10 Effect of Varying Testosterone Levels on Insulin Sensitivity in Normal and IHH Men Completed NCT00470990
11 Examination of Idiopathic Hypogonadotropic Hypogonadism (IHH)and Kallmann Syndrome (KS) Recruiting NCT00392756
12 The Genetic Investigation of Reproductive Disorders (Including Kallmann Syndrome) Recruiting NCT01601171
13 Investigation of the Genetic Causes of Kallmann Syndrome and Reproductive Disorders Recruiting NCT00494169
14 Baselines in Reproductive Disorders Recruiting NCT00456274
15 Psychological Outcomes in Isolated GnRH Deficiency Recruiting NCT02356172
16 Hormonal Regulation of Puberty and Fertility Recruiting NCT01511588
17 Inherited Reproductive Disorders Recruiting NCT01500447
18 Health Needs of Patients With Kallmann Syndrome Active, not recruiting NCT01914172
19 Studying the Effects of 7 Days of Gonadotropin Releasing Hormone (GnRH) Treatment in Men With Hypogonadism Active, not recruiting NCT00493961
20 A Study to Characterize Epidemiology, Clinical and Genetic Features of Kallmann Syndrome in Finland Enrolling by invitation NCT00623116

Search NIH Clinical Center for Kallmann Syndrome

Cochrane evidence based reviews: kallmann syndrome

Genetic Tests for Kallmann Syndrome

Genetic tests related to Kallmann Syndrome:

id Genetic test Affiliating Genes
1 Hypogonadism with Anosmia 29

Anatomical Context for Kallmann Syndrome

MalaCards organs/tissues related to Kallmann Syndrome:

39
Bone, Breast, Kidney, Testes, Heart, Olfactory Bulb, Brain

Publications for Kallmann Syndrome

Articles related to Kallmann Syndrome:

(show top 50) (show all 255)
id Title Authors Year
1
Anosmia with hypogonadism: but NOT Kallmann syndrome. ( 28416537 )
2017
2
Anti-MA1llerian Hormone and Ovarian Morphology in Women With Isolated Hypogonadotropic Hypogonadism/Kallmann Syndrome: Effects of Recombinant Human FSH. ( 28324034 )
2017
3
Lack of decussation of pyramids in Kallmann syndrome presenting with mirror movements. ( 28017217 )
2017
4
A dominant negative FGFR1 mutation identified in a Kallmann syndrome patient. ( 28411082 )
2017
5
Kallmann Syndrome and Chronic Myeloid Leukemia: A Rare Occurrence. ( 27766807 )
2016
6
Kallmann syndrome and deafness: an uncommon combination: A case report and a literature review. ( 27679830 )
2016
7
Kallmann Syndrome: Eugenics and the Man behind the Eponym. ( 27101217 )
2016
8
Genetic sequencing of a patient with Kallmann syndrome plus 5I+-reductase type 2 deficiency. ( 26780871 )
2016
9
Autoimmunity meets genetics: Multiple sclerosis in a patient with Kallmann syndrome. ( 27423600 )
2016
10
Reversal of congenital hypogonadotropic hypogonadism in a man with Kallmann syndrome due to SOX10 mutation. ( 27616149 )
2016
11
Arachnoid cyst: a further anomaly associated with Kallmann syndrome? ( 27406556 )
2016
12
Ataxia and focal dystonia in Kallmann syndrome. ( 26862419 )
2016
13
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
14
ANOS1: a unified nomenclature for Kallmann syndrome 1 gene (KAL1) and anosmin-1. ( 27899353 )
2016
15
CCDC141 Mutation Identified in Anosmic Hypogonadotropic Hypogonadism (Kallmann Syndrome) Alters GnRH Neuronal Migration. ( 27014940 )
2016
16
Targeted next generation sequencing approach identifies eighteen new candidate genes in normosmic hypogonadotropic hypogonadism and Kallmann syndrome. ( 27502037 )
2016
17
Arachnoid cyst: a further anomaly associated with Kallmann syndrome? ( 27379494 )
2016
18
Mutation analyses in pedigrees and sporadic cases of ethnic Han Chinese Kallmann syndrome patients. ( 26031747 )
2015
19
Kallmann syndrome patient with gender dysphoria, multiple sclerosis, and thrombophilia. ( 25739677 )
2015
20
Magnetic Resonance Imaging Findings in Kallmann Syndrome: 14 Cases and Review of the Literature. ( 26571055 )
2015
21
Sublingual thyroid ectopy: similarities and differences with Kallmann syndrome. ( 25750738 )
2015
22
Dysfunctional SEMA3E signaling underlies gonadotropin-releasing hormone neuron deficiency in Kallmann syndrome. ( 25985275 )
2015
23
Clinical, endocrinological, and molecular characterization of Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: a single center experience. ( 25883924 )
2015
24
Sniffin' Sticks and olfactory system imaging in patients with Kallmann syndrome. ( 25951300 )
2015
25
Olfactory Agenesis in Kallmann Syndrome (KS). ( 26023587 )
2015
26
Late-diagnosed Kallmann syndrome. ( 25475520 )
2015
27
Novel FGFR1 and KISS1R Mutations in Chinese Kallmann Syndrome Males with Cleft Lip/Palate. ( 26199944 )
2015
28
Ichthyosis and Kallmann syndrome: Not always a contiguous gene syndrome. ( 25726327 )
2015
29
Novel homozygous deletion of segmental KAL1 and entire STS cause Kallmann syndrome and X-linked ichthyosis in a Chinese family. ( 25597551 )
2015
30
Flavor perception test: evaluation in patients with Kallmann syndrome. ( 26209039 )
2015
31
Loss-of-Function SOX10 Mutation in a Patient with Kallmann Syndrome, Hearing Loss, and Iris Hypopigmentation. ( 26228106 )
2015
32
Kallmann syndrome with FGFR1 and KAL1 mutations detected during fetal life. ( 26051373 )
2015
33
Congenital Hypogonadotropic Hypogonadism and Kallmann Syndrome: Past, Present, and Future. ( 26790381 )
2015
34
Fertility and fragrance: another cause of Kallmann syndrome. ( 25985271 )
2015
35
Point mutations in KAL1 and the mitochondrial gene MT-tRNA(cys) synergize to produce Kallmann syndrome phenotype. ( 26278626 )
2015
36
Novel FGFR1 mutations in Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: evidence for the involvement of an alternatively spliced isoform. ( 26277103 )
2015
37
The adhesion molecule anosmin-1 in neurology: Kallmann syndrome and beyond. ( 25300141 )
2014
38
Mutations in FEZF1 cause Kallmann syndrome. ( 25192046 )
2014
39
Congenital hypogonadotropic hypogonadism and Kallmann syndrome as models for studying hormonal regulation of human testicular endocrine functions. ( 24815726 )
2014
40
Decreased expression of Kallmann syndrome 1 sequence gene (KAL1) contributes to oral squamous cell carcinoma progression and significantly correlates with poorly differentiated grade. ( 25060050 )
2014
41
Brain anatomical substrates of mirror movements in Kallmann syndrome. ( 25300200 )
2014
42
Olfactory dysfunction in children with Kallmann syndrome: relation of smell tests with brain magnetic resonance imaging. ( 25553765 )
2014
43
A novel nonsense mutation of the KAL1 gene (p.Trp204*) in Kallmann syndrome. ( 25328414 )
2014
44
De novo SOX10 nonsense mutation in a patient with Kallmann syndrome and hearing loss. ( 24769923 )
2014
45
The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients. ( 25077900 )
2014
46
Early treatment of Kallmann syndrome may prevent eunuchoid appearance and behavior. ( 24296236 )
2014
47
Brain changes in Kallmann syndrome. ( 24788131 )
2014
48
Childhood growth of females with Kallmann syndrome and FGFR1 mutations. ( 24841555 )
2014
49
Pituitary stalk interruption and olfactory bulbs aplasia/hypoplasia in a man with Kallmann syndrome and reversible gonadotrope and somatotrope deficiencies. ( 25381604 )
2014
50
Functional rescue of Kallmann syndrome-associated prokineticin receptor 2 (PKR2) mutants deficient in trafficking. ( 24753254 )
2014

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 22)
id Name GO ID Score Top Affiliating Genes
1 phosphatidylinositol-mediated signaling GO:0048015 9.77 FGF17 FGF8 FGFR1
2 neuron migration GO:0001764 9.76 FEZF1 FGFR1 SEMA3A
3 neuropeptide signaling pathway GO:0007218 9.75 KISS1R PROK2 PROKR2
4 phosphatidylinositol phosphorylation GO:0046854 9.74 FGF17 FGF8 FGFR1
5 axon guidance GO:0007411 9.71 ANOS1 FEZF1 FLRT3 SEMA3A
6 regulation of phosphatidylinositol 3-kinase signaling GO:0014066 9.7 FGF17 FGF8 FGFR1
7 motor neuron axon guidance GO:0008045 9.61 FGF8 SEMA3A
8 inner ear morphogenesis GO:0042472 9.61 CHD7 FGF8 FGFR1
9 negative chemotaxis GO:0050919 9.59 FLRT3 SEMA3A
10 aorta morphogenesis GO:0035909 9.56 CHD7 FGF8
11 generation of neurons GO:0048699 9.55 FGF8 FGFR1
12 MAPK cascade GO:0000165 9.55 DUSP6 FGF17 FGF8 FGFR1 IL17RD
13 branching involved in salivary gland morphogenesis GO:0060445 9.54 FGF8 FGFR1
14 organ induction GO:0001759 9.51 FGF8 FGFR1
15 forebrain morphogenesis GO:0048853 9.49 FGF8 HESX1
16 positive regulation of neuron migration GO:2001224 9.48 NSMF SEMA3A
17 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.43 FGF17 FGF8 FGFR1
18 nose development GO:0043584 9.37 CHD7 HESX1
19 otic vesicle formation GO:0030916 9.32 FGF8 HESX1
20 olfactory bulb development GO:0021772 9.13 CHD7 FEZF1 SEMA3A
21 fibroblast growth factor receptor signaling pathway GO:0008543 9.02 ANOS1 FGF17 FGF8 FGFR1 FLRT3
22 multicellular organism development GO:0007275 10 FEZF1 FGF17 FGF8 FLRT3 HESX1 SEMA3A

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

id Name GO ID Score Top Affiliating Genes
1 RNA polymerase II core promoter proximal region sequence-specific DNA binding GO:0000978 9.67 CHD7 FEZF1 HESX1 SOX10
2 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.5 FGF17 FGF8 FGFR1
3 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.33 FGF17 FGF8 FGFR1
4 chemorepellent activity GO:0045499 9.26 FLRT3 SEMA3A
5 1-phosphatidylinositol-3-kinase activity GO:0016303 9.13 FGF17 FGF8 FGFR1
6 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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