MCID: KLL001
MIFTS: 58

Kallmann Syndrome malady

Genetic diseases, Rare diseases, Reproductive diseases, Endocrine diseases, Smell/Taste diseases categories

Aliases & Classifications for Kallmann Syndrome

About this section
Sources:
10Disease Ontology, 45NIH Rare Diseases, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 65UMLS, 36MeSH, 24GTR, 42NCIt, 59SNOMED-CT, 66UMLS via Orphanet, 28ICD10 via Orphanet, 37MESH via Orphanet
See all sources

Aliases & Descriptions for Kallmann Syndrome:

Name: Kallmann Syndrome 10 45 23 47 12 51 65 36
Hypogonadism with Anosmia 10 23 24
Anosmic Idiopathic Hypogonadotropic Hypogonadism 45 23
Hypogonadotropic Hypogonadism-Anosmia Syndrome 45 23
Hypogonadotropic Hypogonadism and Anosmia 45 23
Anosmic Hypogonadism 45 23
Kallmann's Syndrome 45 23
 
Congenital Hypogonadotropic Hypogonadism with Anosmia 51
Dysplasia Olfactogenitalis of De Morsier 45
Olfacto-Genital Pathological Sequence 51
Familial Hypogonadism with Anosmia 10
Kallmann Syndrome 1 65
Kallman's Syndrome 10
Kallman Syndrome 10


Classifications:



Characteristics (Orphanet epidemiological data):

51
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


External Ids:

Disease Ontology10 DOID:3614
NCIt42 C75479
Orphanet51 478
UMLS via Orphanet66 C0162809
ICD10 via Orphanet28 E23.0
MESH via Orphanet37 D017436

Summaries for Kallmann Syndrome

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NIH Rare Diseases:45 Kallmann syndrome (ks) is a condition characterized primarily by hypogonadotropic hypogonadism (hh) and absent or diminished sense of smell (anosmia or hyposmia, respectively). hh is present from birth (congenital) and is due to deficiency of gonadotropin-releasing hormone (gnrh). ks is often diagnosed at puberty due to lack of sexual development, but may be suspected in male infants with cryptorchidism or an unusually small penis. untreated adult males may have decreased bone density and muscle mass, decreased testicular volume, erectile dysfunction, diminished libido, and infertility. untreated adult females almost always have absent menstruation with normal, little, or no breast development. in rare cases, features may include failure of kidney development (renal agenesis), hearing impairment, cleft lip or palate, and/or dental abnormalities. most cases of ks are sporadic but some types are familial. the inheritance pattern differs depending on the responsible gene. treatment includes hormone replacement therapy for sexual development. fertility can be achieved in most cases. last updated: 2/25/2015

MalaCards based summary: Kallmann Syndrome, also known as hypogonadism with anosmia, is related to gonadal dysgenesis and charge syndrome, and has symptoms including decreased fertility, anterior hypopituitarism and abnormality of the sense of smell. An important gene associated with Kallmann Syndrome is FGF17 (Fibroblast Growth Factor 17), and among its related pathways are Neural Crest Differentiation and SHC-mediated cascade-FGFR1. Affiliated tissues include bone, breast and kidney, and related mouse phenotypes are hearing/vestibular/ear and limbs/digits/tail.

Genetics Home Reference:23 Kallmann syndrome is a condition characterized by delayed or absent puberty and an impaired sense of smell.

Related Diseases for Kallmann Syndrome

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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 122)
idRelated DiseaseScoreTop Affiliating Genes
1gonadal dysgenesis30.6ANOS1, CHD7, FGF8, FGFR1, PROK2, PROKR2
2charge syndrome30.4ANOS1, CHD7, FGF8, FGFR1, PROK2, PROKR2
3hypogonadism10.8
4hypogonadotropism10.7
5hypogonadotropic hypogonadism 1 with or without anosmia10.6
6neuronitis10.5
7ichthyosis10.5
8hypogonadotropic hypogonadism 2 with or without anosmia10.5
9kallmann syndrome 310.5
10kallmann syndrome 510.4
1146 xy gonadal dysgenesis10.4
12gonadal disease10.4
13hermaphroditism10.4
14sexual disorder10.4
1546, xy disorders of sexual development10.4
16kallmann syndrome 410.4
17kallmann syndrome 610.4
18adult syndrome10.3
19hypogonadotropic hypogonadism with or without anosmia10.3
20hypogonadotropic hypogonadism 3 with or without anosmia10.3
21child syndrome10.3
22nutritional deficiency disease10.3
23kid syndrome10.3
24recurrent neisseria infections due to factor d deficiency10.3KISS1R, TACR3
25hypogonadotropic hypogonadism 13 with or without anosmia10.3
26hypogonadotropic hypogonadism 15 with or without anosmia10.3
27hypogonadotropic hypogonadism 4 with or without anosmia10.3
28hypogonadotropic hypogonadism 11 with or without anosmia10.3
29hypogonadotropic hypogonadism 5 with or without anosmia10.3
30hypogonadotropic hypogonadism 6 with or without anosmia10.3
31cleft lip10.3
32chondrodysplasia punctata10.3
33hypothalamic disease10.3
34reproductive system disease10.3
35brachytelephalangy - dysmorphism - kallmann syndrome10.3
36kallmann syndrome - heart disease10.3
37schizophrenia10.2
38anemia, sideroblastic, pyridoxine-refractory, autosomal recessive10.2
39hypogonadotropic hypogonadism 18 with or without anosmia10.2
40hypogonadotropic hypogonadism 7 without anosmia10.2
41hypogonadotropic hypogonadism 17 with or without anosmia10.2
42williams-beuren syndrome10.2
43hypogonadotropic hypogonadism 16 with or without anosmia10.2
44hypogonadotropic hypogonadism 20 with or without anosmia10.2
45hypogonadotropic hypogonadism 12 with or without anosmia10.2
46hypogonadotropic hypogonadism 9 with or without anosmia10.2
47hypogonadotropic hypogonadism 14 with or without anosmia10.2
48hypogonadotropic hypogonadism 10 with or without anosmia10.2
49hypogonadotropic hypogonadism 19 with or without anosmia10.2
50hypogonadotropic hypogonadism 8 with or without anosmia10.2

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



Diseases related to kallmann syndrome

Symptoms for Kallmann Syndrome

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Symptoms:

 51 (show all 44)
  • anosmia/cacosmia/hypogeusia/hyposmia/olfactory bulb hypoplasia
  • micropenis/small penis/agenesis
  • small/atrophic/hypoplastic testes/monorchism/microorchidism/anorchia
  • sterility/hypofertility
  • impotence/painful erection/priapism/erection troubles
  • hypothalamic-hypophyseal axis functional anomalies/hypopituitarism
  • late puberty/hypogonadism/hypogenitalism
  • autosomal dominant inheritance
  • autosomal recessive inheritance
  • x-linked recessive inheritance
  • breast tissue/mammary gland absence/aplasia
  • abnormal cry/voice/phonation disorder/nasal speech
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • primary amenorrhea
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • visual loss/blindness/amblyopia
  • achromatopsia/dyschromatopsia/daltonism/impaired colour vision
  • nystagmus
  • ptosis
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • anodontia/oligodontia/hypodontia
  • sensorineural deafness/hearing loss
  • gynecomastia/breast/mammary gland enlargement/hyperplasia
  • pes talus
  • pes cavus
  • ichthyosis/ichthyosiform dermatitis
  • congenital cardiac anomaly/malformation/cardiopathy
  • agenesis/hypoplasia/aplasia of kidneys
  • uterine/uterus/fallopian tubes anomalies
  • metrorrhagia/menorrhagia/hemorrhagic cycles/hyper/poly/spanio/dysmenorrhea
  • dyspareunia/coital pain/vaginal dryness
  • abnormal gait
  • ataxia/incoordination/trouble of the equilibrium
  • movement disorder
  • tremor
  • hypotonia
  • hemiplegia/diplegia/hemiparesia/limb palsy
  • seizures/epilepsy/absences/spasms/status epilepticus
  • elocution disorders/dysarthria/dysphonia
  • muscle weakness/flaccidity
  • dysostosis/chondrodysplasia/osteodysplasia/osteochondrosis/skeletal dysplasia
  • mutiple fractures/bone fragility
  • delayed bone age
  • generalized obesity

HPO human phenotypes related to Kallmann Syndrome:

(show all 35)
id Description Frequency HPO Source Accession
1 decreased fertility hallmark (90%) HP:0000144
2 anterior hypopituitarism hallmark (90%) HP:0000830
3 abnormality of the sense of smell hallmark (90%) HP:0004408
4 hypoplasia of penis hallmark (90%) HP:0008736
5 erectile abnormalities hallmark (90%) HP:0100639
6 cryptorchidism typical (50%) HP:0000028
7 primary amenorrhea typical (50%) HP:0000786
8 abnormality of the voice typical (50%) HP:0001608
9 reduced bone mineral density typical (50%) HP:0004349
10 breast aplasia typical (50%) HP:0100783
11 cleft palate occasional (7.5%) HP:0000175
12 sensorineural hearing impairment occasional (7.5%) HP:0000407
13 visual impairment occasional (7.5%) HP:0000505
14 ptosis occasional (7.5%) HP:0000508
15 abnormality of color vision occasional (7.5%) HP:0000551
16 nystagmus occasional (7.5%) HP:0000639
17 gynecomastia occasional (7.5%) HP:0000771
18 seizures occasional (7.5%) HP:0001250
19 muscular hypotonia occasional (7.5%) HP:0001252
20 gait disturbance occasional (7.5%) HP:0001288
21 muscle weakness occasional (7.5%) HP:0001324
22 tremor occasional (7.5%) HP:0001337
23 obesity occasional (7.5%) HP:0001513
24 pes cavus occasional (7.5%) HP:0001761
25 rocker bottom foot occasional (7.5%) HP:0001838
26 neurological speech impairment occasional (7.5%) HP:0002167
27 incoordination occasional (7.5%) HP:0002311
28 malformation of the heart and great vessels occasional (7.5%) HP:0002564
29 skeletal dysplasia occasional (7.5%) HP:0002652
30 delayed skeletal maturation occasional (7.5%) HP:0002750
31 recurrent fractures occasional (7.5%) HP:0002757
32 hemiplegia/hemiparesis occasional (7.5%) HP:0004374
33 ichthyosis occasional (7.5%) HP:0008064
34 renal hypoplasia/aplasia occasional (7.5%) HP:0008678
35 reduced number of teeth occasional (7.5%) HP:0009804

Drugs & Therapeutics for Kallmann Syndrome

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

(show all 20)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
ZincapprovedPhase 414047440-66-623994, 32051
Synonyms:
30Zn
Cinc
Zinc
Zinc ion
 
Zincum
Zink
Zn
Zn(ii)
Zn2+
2Chorionic GonadotropinPhase 4164
3Follicle Stimulating HormonePhase 4, Phase 2145
4
Letrozoleapproved, investigationalPhase 2, Phase 3326112809-51-53902
Synonyms:
1-[Bis-(4-cyanophenyl)methyl]-1,2,4-triazole
1-[bis(4-cyanophenyl)methyl]-1,2,4-triazole
112809-51-5
4,4'-((1h-1,2,4-triazol-1-yl)methylene)dibenzonitrile
4,4'-(1H-1,2,4-Triazol-1-ylmethylene)dibenzonitrile
4,4'-(1H-1,2,4-triazol-1-yl-methylene)-bis(benzonitrile)
4,4'-(1H-1,2,4-triazol-1-ylmethanediyl)dibenzonitrile
4,4'-(1H-1,2,4-triazol-1-ylmethylene)bis-Benzonitrile Letrozole
4,4'-(1h-1,2,4-triazol-1-ylmethylene) bis-benzonitrile
4,4'-(1h-1,2,4-triazol-1-ylmethylene)bis-benzonitrile
4,4'-(1h-1,2,4-triazol-1-ylmethylene)bisbenzonitrile
4-[(4-cyanophenyl)-(1,2,4-triazol-1-yl)methyl]benzonitrile
AB00514009
AC-1193
AC1L1GYT
AKOS005145822
BIDD:GT0015
BIDD:PXR0130
BPBio1_001331
BRD-K88789588-001-03-2
BSPBio_001209
Bio-0057
C067431
C08163
C17H11N5
CAS-112809-51-5
CCRIS 8822
CGS 20267
CGS 20267, Femara, Piroxicam, Letrozole
CGS-20267
CHEBI:6413
CHEMBL1444
CID3902
CPD000466343
D00964
 
DB01006
FEM-345
Femara
Femara (TN)
Femera
HMS1571M11
HMS2051E08
HMS2089L22
HSDB 7461
I06-0022
LS-38788
Letoval
Letrozol
Letrozole
Letrozole (JAN/USP/INN)
Letrozole [USAN:INN]
MLS000759455
MLS001424038
MLS002584991
MolPort-003-848-373
NCGC00016973-01
NCGC00016973-02
NSC719345
Novartis Brand of Letrozole
Prestwick0_001025
Prestwick1_001025
Prestwick2_001025
Prestwick3_001025
S1235_Selleck
SAM001246649
SMR000466343
SPBio_003070
TL8000371
UNII-7LKK855W8I
ZINC03778874
letrozole
5
Testosteroneapproved, investigationalPhase 245358-22-06013
Synonyms:
(+)-testosterone
(+-)-8-iso-testosterone
(+-)-retrotestosterone
(+-)-testosterone
(17b)-17-hydroxy-androst-4-en-3-one
(17beta)-17-Hydroxyandrost-4-en-3-one
(8R,9S,10R,13S,14S,17S)-17-hydroxy-10,13-dimethyl-1,2,6,7,8,9,11,12,14,15,16,17-dodecahydrocyclopenta[a]phenanthren-3-one
13-Iso-testosterone
17-Hydroxy-(17-beta)-androst-4-en-3-one
17-Hydroxy-(17beta)-androst-4-en-3-one
17-Hydroxy-10,13-dimethyl-1,2,6,7,8,9,10,11,12,13,14,15,16,17-tetradecahydro-cyclopenta[a]phenanthren-3-one
17-Hydroxy-D4-androsten-3-one
17-Hydroxy-androst-4-en-3-one
17-beta-Hydroxy-delta(sup 4)-androsten-3-one
17-beta-Hydroxyandrost-4-en-3-one
17?-Hydroxy-4-androsten-3-one
17a-Hydroxy-(13a)-androst-4-en-3-one
17a-Hydroxy-13a-androst-4-en-3-one
17a-Hydroxy-14b-androst-4-en-3-one
17a-Hydroxy-androst-4-en-3-one
17b-Hydroxy-(10a)-androst-4-en-3-one
17b-Hydroxy-(13a)-androst-4-en-3-one
17b-Hydroxy-(8a)-androst-4-en-3-one
17b-Hydroxy-(8a,10a)-androst-4-en-3-one
17b-Hydroxy-(9b)-androst-4-en-3-one
17b-Hydroxy-(9b,10a)-androst-4-en-3-one
17b-Hydroxy-13a-androst-4-en-3-one
17b-Hydroxy-8a-androst-4-en-3-one
17b-Hydroxy-D4-androsten-3-one
17b-Hydroxy-androst-4-en-3-on
17b-Hydroxy-androst-4-en-3-one
17b-Hydroxyandrost-4-en-3-one
17b-Hydroxyandrost-4-ene-3-one
17b-Testosterone
17b-hydroxy-4-androsten-3-one
17beta-Hydroxy-3-oxo-4-androstene
17beta-Hydroxy-4-androsten-3-one
17beta-Hydroxy-delta(sup4)-androsten-3-one
17beta-Hydroxyandrost-4-en-3-one
17beta-Hydroxyandrost-4-ene-3-one
17beta-hydroxy-4-androsten-3-one
4-Androsten-17?-ol-3-one
4-Androsten-17beta-ol-3-one
4-Androsten-3-one-17b-ol
4-androsten-17β-ol-3-one
4-androstene-17beta-ol-3-one
46923_FLUKA
46923_RIEDEL
58-22-0
7-beta-Hydroxyandrost-4-en-3-one
8-Iso-testosterone
9b,10a-Testosterone
9b-Testosterone
AA 2500
AC-14899
AC1L1LM0
Andro 100
AndroGel
Androderm
Androderm (TN)
Androgel
Androgel (TN)
Androlin
Andronaq
Andronate 100
Andronate 200
Andropatch
Andropository 200
Androsorb
Androst-4-en-17b-ol-3-one
Androst-4-en-17beta-ol-3-one
Androst-4-ene-17b-ol-3-one
Andrusol
Andryl 200
Aveed
Axiron
B5DEE83F-632B-48A1-A0ED-A51E7F13DF2E
BIDD:ER0555
BIM-0061761.0001
Bio-0678
C00535
CCRIS 574
CDB 111C
CHEBI:17347
CHEMBL386630
CID6013
CMC_13449
COL 1621
CP 601B
CPD000058344
Cristerona T
Cristerone T
D00075
D4-Androsten-17b-ol-3-one
DB00624
Delatestryl
Depo-Testadiol
Depo-testosterone
Depotest
EINECS 200-370-5
Epitestosteron
Everone 200
Fortesta
Geno-cristaux Gremy
Geno-cristaux gremy
HMS2052N11
HSDB 3398
Halotensin
Homosteron
Homosterone
 
Intrinsa
LMST02020002
LS-148813
LibiGel
Lumitestosteron
MLS000563091
MLS001032098
MLS001306401
MLS002174283
Malerone
Malestrone (amps)
Malogen in Oil
Malogen, aquaspension injection
Mertestate
MolPort-002-506-901
NCGC00091018-01
NSC 9700
Natesto nasal gel
Neo-Hombreol F
Neo-testis
Neotestis
Oreton
Oreton F
Oreton-F
Orquisteron
Perandren
Percutacrine androgenique
Primotest
Primoteston
Rac-17b-hydroxy-(13a)androst-4-en-3-one
Rac-17b-hydroxy-(8a)-androst-4-en-3-one
Rac-17b-hydroxy-(9b,10a)androst-4-en-3-one
Rac-17b-hydroxy-androst-4-en-3-one
Relibra
Retrotestosterone
S00309
S2033_Selleck
SAM001246921
SMR000058344
SMR001261453
Scheinpharm Testone-Cyp
Striant
Striant (TN)
Sustanon
Sustanone
Sustason 250
Synandrol F
T-Cypionate
T1500_SIGMA
T5411_FLUKA
T5411_SIGMA
Teslen
Testamone 100
Testandrone
Testaqua
Testiculosterone
Testim
Testim (TN)
Testobase
Testoderm
Testoderm Tts
Testogel
Testoject-50
Testolent
Testolin
Testopel
Testopel Pellets
Testopropon
Testosteroid
Testosteron
Testosterona
Testosterona [INN-Spanish]
Testosterone
Testosterone (JAN/USP)
Testosterone Enanthate
Testosterone Gel
Testosterone Heptanoate
Testosterone Propionate
Testosterone Undecanoate
Testosterone [Androgenic steroids, anabolic]
Testosterone [INN:BAN]
Testosterone and its esters
Testosterone hydrate
Testosterone solution
Testosteronum
Testosteronum [INN-Latin]
Testostosterone
Testostérone
Testoviron
Testoviron Schering
Testoviron T
Testoxyl
Testred Cypionate 200
Testrin-P.A
Testro AQ
Testrone
Testryl
Tostrelle
Tostrex
UNII-3XMK78S47O
Viatrel
Virilon IM
Virormone
Virosterone
Vogelxo
ZINC06500184
beta testosterone
delta(sup 4)-Androsten-17(beta)-ol-3-one
delta4-Androsten-17beta-ol-3-one
delta4-androsten-17b-ol-3-one
trans-Testosterone
6
MethyltestosteroneapprovedPhase 245358-18-46010
Synonyms:
17(alpha)-Methyl-delta(4)-androsten-17(beta)-ol-3-one
17-Methyltestosterone
17-beta-Hydroxy-17-methylandrost-4-en-3-one
17-methyltestosterone
17alpha-Methyl-3-oxo-4-androsten-17beta-ol
17alpha-Methyl-delta(4)-androsten-17beta-ol-3-one
17alpha-Methyltestosterone
17alpha-methyl-delta-androsten-17beta-ol-3-one
17alpha-methyltestosterone
17beta-Hydroxy-17-methylandrost-4-en-3-one
 
17α-methyl-Δ4-androsten-17β-ol-3-one
17α-methyltestosterone
4-Androstene-17alpha-methyl-17beta-ol-3-one
Android
Methitest
Methyltestosterone
Methyltestosteronum
Metiltestosterona
NSC-9701
Testred
Testred C-III
Virilon
7Testosterone undecanoatePhase 2453
8
Testosterone enanthatePhase 2453315-37-79416
Synonyms:
17-((1-Oxoheptyl)oxy)androst-4-en-3-one
17-Hydroxyandrost-4-en-3-one, 17-heptanoate
17-Hydroxyandrost-4-en-3-one, 17-heptanoic acid
17beta-Enanthoxyandrost-4-en-3-one
17beta-Hydroxyandrost-4-en-3-one enanthate
4-Androsten-17beta-ol-3-one 17-enanthate
4-Androsten-3-one 17beta-enanthate
Androgyn L.A.
Andropository
Androtardyl
Atlatest
DEA No. 4000
DePatestrye
Delatest
Delatestryl
Depo-Testro Med
Ditate
Durathate
Everone
 
Exten test
Malogen L.A.
Malogen L.A.200
Orquisteron-E
Primotestone
Reposo TMD
Testanthate
Testate
Testenate
Testinon
Testoenant
Testonenant
Testosterone 17-enanthate
Testosterone 17beta-heptanoate
Testosterone 17beta-heptanoic acid
Testosterone enantate
Testosterone heptoate
Testosterone heptoic acid
Testosterone heptylate
Testosterone oenanthate
Testostroval
9Testosterone 17 beta-cypionatePhase 2457
10
Ketoconazoleapproved, investigational17165277-42-147576, 3823
Synonyms:
(+)-Ketoconazole
(+-)-cis-1-Acetyl-4-(p-((2-(2,4-dichlorophenyl)-2-(imidazol-1-ylmethyl)-1,3-dioxolan-4-yl)methoxy)phenyl)piperazine
(+-)-cis-1-acetyl-4-(p-((2-(2,4-dichlorophenyl)-2-(imidazol-1- ylmethyl)-1,3-dioxolan-4-yl)methoxy)phenyl)piperazine
(+/-)-cis-1-Acetyl-4-(4-[(2-[2,4-dichlorophenyl]-2-[1H-imidazol-1-ylmethyl]-1,3-dioxolan-4-yl)-methoxy]phenyl)piperazine
(+/-)-cis-1-Acetyl-4-[4-[[2-(2,4-dichlorophenyl)-2-(imidazol-1-ylmethyl)-1,3-dioxolan-4-yl]methoxy]phenyl]piperazine
1-[4-[4-[[(2R,4S)-2-(2,4-dichlorophenyl)-2-(imidazol-1-ylmethyl)-1,3-dioxolan-4-yl]methoxy]phenyl]piperazin-1-yl]ethanone
1-acetyl-4-(4-{[(2R,4S)-2-(2,4-dichlorophenyl)-2-(1H-imidazol-1-ylmethyl)-1,3-dioxolan-4-yl]methoxy}phenyl)piperazine
65277-42-1
79156-75-5
AC-15957
AC1L9UG3
BIDD:GT0696
BIM-0050645.0001
BPBio1_000635
BRD-K29113274-001-03-6
BRN 4303081
BSPBio_000577
C26H28Cl2N4O4
CHEBI:48336
CHEMBL75
CID456201
CIS-1-ACETYL-4-(4-((2-(2,4-DICHLOROPHENYL)-2-(1H-IMIDAZOL-1-YLMETHYL)-1,3-DIOXOLAN-4-YL)METHOXY)PHENYL)PIPERAZINE
CPD000058460
EINECS 265-667-4
EU-0100666
Extina
Fungarest
Fungoral
HMS1569M19
HMS2051A19
HMS2089N05
HSDB 7447
K 1003
K0045
K1003_SIGMA
KCZ
KS-1205
KTZ
KW-1414
KZ
Ketoconazol
Ketoconazole
Ketoconazole [USAN:INN:BAN:JAN]
Ketoconazolum
Ketodan
Ketoderm
Ketoisdin
Ketozole
 
LS-110149
Lopac0_000666
MLS000069784
MLS000758224
MLS001146934
MLS002207053
MLS002222255
MolPort-003-848-307
NCGC00025000-01
NCGC00025000-02
NCGC00025000-03
NCGC00025000-04
NCGC00025000-05
NCGC00025000-06
NCGC00025000-07
NCGC00025000-08
NCGC00025000-09
NSC 317629
NSC317629
Nizoral
Nizoral A-D
Nizoral a-D
Nizoral, Extina, Xolegel, Kuric, Ketoconazole
Orifungal M
Panfungol
Piperazine
Prestwick0_000389
Prestwick1_000389
Prestwick2_000389
Prestwick3_000389
Prestwick_744
R 41,400
R 41400
R-41400
R41,400
R41400
S1353_Selleck
SAM001246983
SID456469
SMR000058460
SPBio_002498
Tocris-1103
UC280_SIGMA
UPCMLD-DP138
UPCMLD-DP138:001
Xolegel
cis-1-Acetyl-4-(4-((2-(2,4-dichlorophenyl)-2-(1H- imidazol-1-ylmethyl)-1,3-dioxolan-4-yl)methoxy)phenyl)-ketoconazol
cis-1-Acetyl-4-[4-[[2-(2,4-dichlorophenyl)-2-(1H-imidazol-1-ylmethyl)-1,3-dioxolan-4-yl]methoxy]phenyl]piperazine
dichlorophenyl)-2-(1H-imidazol-1-ylmethyl)-1,3-dioxolan-4-yl]methoxy]phenyl]-piperazine
ketoconazole
11
Estradiolapproved, investigational105750-28-25757, 53477783
Synonyms:
(+)-3,17b-Estradiol
(17b)-Estra-1,3,5(10)-triene-3,17-diol
(17beta)-Estra-1,3,5(10)-triene-3,17-diol
.alpha.-Estradiol
.alpha.-Oestradiol
.beta.-Estradiol
.beta.-Oestradiol
1,3,5[10]-Estratriene-3,17beta-diol 3-sulfate
1,3,5[10]-Estratriene-3,17beta-diol 3-sulphate
13b-Methyl-1,3,5(10)-gonatriene-3,17b-ol
17 beta-Estradiol
17-.BETA.-Estradiol
17-E
17-beta
17-beta-OH-estradiol
17-beta-estradiol
17.beta.-Estradiol
17.beta.-Oestradiol
17E
17b-Estradiol
17b-Oestradiol
17beta Oestradiol
17beta oestradiol
17beta-Estra-1,3,5(10)-triene-3,17-diol
17beta-Estradiol
17beta-Oestradiol
1jgl
1qkt
1qku
2d06
3,17-Epidihydroxyestratriene
3,17-beta-Estradiol
3,17-beta-Oestradiol
3,17.beta.-Estradiol
3,17b-Dihydroxyestra-1,3,5(10)-triene
3,17b-Estradiol
3,17beta-Estradiol
3,17beta-dihydroxy-1,3,5[10]-estratriene 3-sulfate
3,17beta-dihydroxy-1,3,5[10]-estratriene 3-sulphate
50-28-2
73459-61-7
873662-39-6
AC-10460
AC1L1L2K
Aerodiol
Agofollin
Alora
Altrad
Amnestrogen
Aquadiol
B-Estradiol
BEDOs
BIDD:ER0125
BIDD:PXR0065
BPBio1_000532
BSPBio_000482
BSPBio_001065
Bardiol
Benzhormovarine
Beta-estradiol
Bio-0812
Bio-E-Gel
Bio1_000403
Bio1_000892
Bio1_001381
Bio2_000363
Bio2_000843
C00951
C18H24O2
CCRIS 280
CHEBI:16469
CHEMBL135
CID5757
CMC_11154
CPD-352
CPD000059126
Climaderm
Climara
Climara (TN)
Climara Forte
Compudose
Compudose 200
Compudose 365
Corpagen
D-3,17beta-Estradiol
D-Estradiol
D-Oestradiol
D00105
DB00783
Depo-estradiol
Dermestril
Destradiol
Dihydro-Theelin
Dihydrofollicular hormone
Dihydrofolliculin
Dihydromenformon
Dihydrotheelin
Dihydroxyesterin
Dihydroxyestrin
Dihydroxyoestrin
Dimenformon
Diogyn
Diogynets
Divigel
Divigel (TN)
E 2
E 8875
E(sub 2)
E0025
E1024_SIGMA
E1132_SIGMA
E2257_SIGMA
E2758_SIGMA
E8875_SIGMA
EINECS 200-023-8
EU-0100503
Elestrin
Encore
Epiestriol 50
Esclim
Estra-1,3,5(10)-triene-3,17b-diol
Estrace
Estrace (TN)
Estraderm
Estraderm (TN)
Estraderm MX
Estraderm TTS
Estraderm TTS 100
Estraderm TTS 50
Estradiol
Estradiol Transdermal System
Estradiol Valerate
Estradiol [USAN:INN]
Estradiol acetate
Estradiol benzoate
Estradiol cypionate
Estradiol valerate
Estradiol-17 beta
Estradiol-17-beta
Estradiol-17.beta.
Estradiol-17beta
Estradiol-3,17beta
Estradiolo
Estradiolo [DCIT]
Estradiolum
Estradiolum [INN]
Estradot
Estraldine
Estrapak 50
Estrasorb
Estrasorb (TN)
Estreva
Estrifam
Estring
Estring (TN)
Estring Vaginal Ring
Estring vaginal ring
Estroclim
Estroclim 50
Estrodiolum
Estrofem 2
 
Estrofem Forte
Estrogel
Estrogel (TN)
Estrogel HBF
Estrovite
Evamist
Evorel
Extrasorb
Femanest
Femestral
Femestrol
Femogen
Fempatch
Femring
Femtrace
Femtran
Follicyclin
Gelestra
Ginedisc
Ginosedol
GynPolar
Gynergon
Gynestrel
Gynodiol
Gynoestryl
HMS1362E07
HMS1569I04
HMS1792E07
HMS1990E07
HMS2051C17
HMS2090E18
HSDB 3589
IDI1_002118
Innofem
Innofem (TN)
KBio2_000405
KBio2_002269
KBio2_002973
KBio2_004837
KBio2_005541
KBio2_007405
KBio3_000769
KBio3_000770
KBio3_002749
KBioGR_000405
KBioGR_002269
KBioSS_000405
KBioSS_002270
LMST02010001
LS-137
Lamdiol
Lio-Oid
Lopac0_000503
MLS000069494
MLS000758312
MLS001076331
Macrodiol
Macrol
Menest
Menorest
Menostar
Microdiol
Minivelle
MolPort-001-794-632
NCGC00091544-00
NCGC00091544-01
NCGC00091544-02
NCGC00091544-04
NCGC00091544-05
NCGC00091544-06
NCGC00091544-07
NCGC00091544-08
NCGC00091544-09
NCGC00091544-12
NCGC00179321-01
NCGC00179321-02
NSC-9895
NSC9895
Nordicol
Oesclim
Oestergon
Oestra-1,3,5(10)-triene-3,17b-diol
Oestradiol
Oestradiol Berco
Oestradiol R
Oestradiol-17-beta
Oestradiol-17.beta.
Oestradiol-17beta
Oestradiolum
Oestrogel
Oestroglandol
Oestrogynal
Ovahormon
Ovasterol
Ovastevol
Ovociclina
Ovocyclin
Ovocycline
Ovocylin
Perlatanol
Polyestradiol
Prestwick0_000441
Prestwick1_000441
Prestwick2_000441
Prestwick3_000441
Prestwick_207
Primofol
Profoliol
Profoliol B
Progynon
Progynon DH
Progynon-DH
S-21400
S1709_Selleck
SAM001247032
SK-Estrogens
SL-1100
SMP1_000121
SMR000059126
SPBio_002421
Sandrena 1
Sandrena Gel
Sisare Gel
Spectrum5_002055
Syndiol
Systen
Tradelia
Trial SAT
Trocosone
UNII-4TI98Z838E
VIVELLE-DOT
Vagifem
Vagifem (TN)
Vivelle
Vivelle (TN)
Vivelle Dot
Vivelle-dot
Zerella
Zesteem
Zesteen
Zumenon
[2,4,6,7-3H]-E2
[3H]-estradiol
[3H]]estradiol
b-Estradiol
beta-Estradiol
beta-Estradiol 3-sulfate
beta-Estradiol 3-sulphate
bmse000642
cMAP_000005
cis-Estradiol
cis-Oestradiol
component of Menrium
delta-Estradiol
delta-Oestradiol
estradiol
estradiol-17beta
nchembio.168-comp3
nchembio.76-comp2
nchembio775-comp2
nchembio794-comp6
nchembio860-comp1
progynon
12
Estropipateapproved187280-37-75284555
Synonyms:
3-Hydroxyestra-1,3,5(10)-trien-17-one hydrogen sulphate
Estrone 3-sulfate
Estrone hydrogen sulfate
Estrone sulfate
 
Estrone sulphate
Estropipate
OGEN
Ogen (TN)
Ogen 2.5
13
Estroneapproved1853-16-75870
Synonyms:
(+)-Estrone
(13S)-3-hydroxy-13-methyl-7,8,9,11,12,13,15,16-octahydro-6H-cyclopenta[a]phenanthren-17(14H)-one
(8R,9S,13S,14S)-3-hydroxy-13-methyl-7,8,9,11,12,14,15,16-octahydro-6H-cyclopenta[a]phenanthren-17-one
1,3,5(10)-Estratrien-3-ol-17-one
1,3,5(10)-Oestratrien-3-ol-17-one
3-08-00-01171 (Beilstein Handbook Reference)
3-Hydroxy-1,3,5(10)-estratrien-17-one
3-Hydroxy-17-keto-estra-1,3,5-triene
3-Hydroxy-17-keto-oestra-1,3,5-triene
3-Hydroxy-oestra-1,3,5(10)-trien-17-one
3-Hydroxyestra-1,3,5(10)-trien-17-one
3-Hydroxyestra-1,3,5(10)-triene-17-one
3-Hydroxyoestra-1,3,5(10)-trien-17-one
3-hydroxy-estra-1,3,5(10)-trien-17-one
37242-41-4
46573_FLUKA
46573_RIEDEL
53-16-7
86C77018-146D-4603-ACEA-CA0D8C4F1E2C
AB00382990
AC-1395
AC1L1LBE
ACon0_000083
ACon1_000122
Aquacrine
BIDD:ER0145
BPBio1_000868
BRD-K81839095-001-04-6
BRN 1915077
BSPBio_000788
Bio-0668
C00468
CCRIS 285
CHEBI:17263
CHEMBL1405
CID5870
CMC_13458
Crinovaryl
Cristallovar
Crystogen
D00067
D004970
D1,3,5(10)-Estratrien-3-ol-17-one
DB00655
Destrone
Disynformon
E 9750
E(sub 1)
E0026
E1274_SIGMA
E9750_SIGMA
EINECS 200-164-5
EU-0100513
Endofolliculina
Esterone
Estrin
Estrogenic Substance
Estron
Estrona
Estrona [INN-Spanish]
Estrona [Spanish]
Estrone
Estrone (E1)
Estrone (JAN/USP/INN)
Estrone (TN)
Estrone [USAN:INN]
Estrone, (+-)-Isomer
Estrone, (8 alpha)-Isomer
Estrone, (9 beta)-Isomer
Estrone-A
Estronum
Estronum [INN-Latin]
Estrugenone
Estrusol
Fem-O-Gen
Femestrone inj.
Femestrone injection
Femidyn
Fermidyn
Folikrin
Folipex
Folisan
Follestrine
Follestrol
Folliculin
Folliculine
Folliculine benzoate
Follicunodis
 
Glandubolin
HMS1570H10
HMS2090E22
HSDB 3324
Hauck Brand of Estrone
Hiestrone
Hormestrin
Hormofollin
Hormovarine
Hyrex Brand of Estrone
Kestrone
Ketodestrin
Ketohydroxy-Estratriene
Ketohydroxyestrin
Ketohydroxyoestrin
Ketophydroxyestrin
Kolpon
LMST02010004
LS-64884
Lopac0_000513
MEGxm0_000444
MLS000028475
MLS001077340
MLS002695951
Menagen
Menformon
Menformon A
Mestronaq
MolPort-001-742-529
NATURAL ESTROGENIC SUBSTANCE-ESTRONE
NCGC00023643-03
NCGC00023643-04
NCGC00023643-05
NCGC00023643-06
NCGC00023643-10
NCGC00179433-01
NCGC00179433-02
NCGC00179433-03
NSC 9699
OESTRONE
Oestrin
Oestroform
Oestrone
Oestrone [Steroidal oestrogens]
Oestrone, Estrone
Oestronum
Oestroperos
Ovex (tablets)
Ovifollin
Penncap M
Perlatan
Prestwick0_000914
Prestwick1_000914
Prestwick2_000914
Prestwick3_000914
S1665_Selleck
SGCUT00128
SMP1_000123
SMR000058338
SPBio_002977
STK801833
Solliculin
Spectrum5_002047
Theelin
Thelestrin
Thelykinin
Thynestron
Tokokin
UNII-2DI9HA706A
Unden
Unden (pharmaceutical)
Unden (pharmaceutical) (VAN)
Unigen
Vortech Brand of Estrone
Wehgen
Wynestron
WynestronPencap M
[2,4,6,7-3H]-E1
bmse000549
delta-1,3,5-Estratrien-3beta-ol-17-one
delta-1,3,5-Oestratrien-3beta-ol-17-one
delta-1,3,5-estratrien-3-beta-ol-17-one
delta-1,3,5-oestratrien-3-beta-ol-17-one
estrol
estrone
estrovarin
follicular hormone
folliculin
nchembio.76-comp37
to_000049
14insulin4069
15Insulin, Globin Zinc4069
16Polyestradiol phosphate1057
17Estradiol 17 beta-cypionate1083
18Drospirenone and ethinyl estradiol combination75
19Estradiol 3-benzoate1057
20Estradiol valerate1057979-32-8

Interventional clinical trials:

(show all 19)
idNameStatusNCT IDPhase
1Sequential Therapy for Hypogonadotropic HypogonadismCompletedNCT01403532Phase 4
2Letrozole Treatment in Normal and GnRH Deficient WomenActive, not recruitingNCT00351416Phase 2, Phase 3
3Pulsatile GnRH in Anovulatory InfertilityRecruitingNCT00383656Phase 2
4Administration of Kisspeptin to Subjects With Reproductive DisordersRecruitingNCT00914823Phase 2
5Follicle Stimulating Hormone (FSH) to Improve Testicular Development in Men With HypogonadismTerminatedNCT00064987Phase 2
6Kisspeptin in the Evaluation of Delayed PubertyRecruitingNCT01438034Phase 1
7Investigating the Regulation of Reproductive Hormones in Adult MenCompletedNCT00392457
8Study of a Large Family With Congenital Mirror Movements : From Underlying Pathophysiology to Culprit Gene Identification PROJET " MOMIC "CompletedNCT01075061
9Effect of Varying Testosterone Levels on Insulin Sensitivity in Normal and IHH MenCompletedNCT00470990
10Investigation of the Genetic Causes of Kallmann Syndrome and Reproductive DisordersRecruitingNCT00494169
11Examination of Idiopathic Hypogonadotropic Hypogonadism (IHH)and Kallmann Syndrome (KS)RecruitingNCT00392756
12The Genetic Investigation of Reproductive Disorders (Including Kallmann Syndrome)RecruitingNCT01601171
13Baselines in Reproductive DisordersRecruitingNCT00456274
14Psychological Outcomes in Isolated GnRH DeficiencyRecruitingNCT02356172
15Hormonal Regulation of Puberty and FertilityRecruitingNCT01511588
16Inherited Reproductive DisordersRecruitingNCT01500447
17Health Needs of Men With Kallmann SyndromeActive, not recruitingNCT01914172
18Studying the Effects of 7 Days of Gonadotropin Releasing Hormone (GnRH) Treatment in Men With HypogonadismActive, not recruitingNCT00493961
19A Study to Characterize Epidemiology, Clinical and Genetic Features of Kallmann Syndrome in FinlandEnrolling by invitationNCT00623116

Search NIH Clinical Center for Kallmann Syndrome


Cochrane evidence based reviews: Kallmann Syndrome

Genetic Tests for Kallmann Syndrome

About this section

Genetic tests related to Kallmann Syndrome:

id Genetic test Affiliating Genes
1 Hypogonadism with Anosmia24

Anatomical Context for Kallmann Syndrome

About this section

MalaCards organs/tissues related to Kallmann Syndrome:

33
Bone, Breast, Kidney, Testes, Olfactory bulb, Brain, Uterus

Animal Models for Kallmann Syndrome or affiliated genes

About this section

MGI Mouse Phenotypes related to Kallmann Syndrome:

38 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537710.3CHD7, DUSP6, FGF8, FGFR1, HESX1, IL17RD
2MP:000537110.2CHD7, FGF8, FGFR1, HS6ST1, SOX10, SPRY4
3MP:000539010.2CHD7, DUSP6, FGF8, FGFR1, HS6ST1, SEMA3A
4MP:000538210.0CHD7, DUSP6, FEZF1, FGF8, FGFR1, HESX1
5MP:00053809.9CHD7, FGF8, FGFR1, FLRT3, HESX1, HS6ST1
6MP:00053889.8CHD7, FEZF1, HESX1, HS6ST1, SEMA3A, SOX10
7MP:00053799.6CHD7, FGF8, FGFR1, HESX1, HS6ST1, KISS1R
8MP:00053869.3CHD7, FEZF1, FGF17, FGF8, FGFR1, KISS1R
9MP:00107689.2CHD7, DUSP6, FEZF1, FGF8, FGFR1, FLRT3
10MP:00053789.2CHD7, DUSP6, FEZF1, FGF8, FGFR1, FLRT3
11MP:00036318.7CHD7, FEZF1, FGF17, FGF8, FGFR1, FLRT3

Publications for Kallmann Syndrome

About this section

Articles related to Kallmann Syndrome:

(show top 50)    (show all 235)
idTitleAuthorsYear
1
Kallmann syndrome patient with gender dysphoria, multiple sclerosis, and thrombophilia. (25739677)
2015
2
Flavor perception test: evaluation in patients with Kallmann syndrome. (26209039)
2015
3
Late-diagnosed Kallmann syndrome. (25475520)
2015
4
Mutation analyses in pedigrees and sporadic cases of ethnic Han Chinese Kallmann syndrome patients. (26031747)
2015
5
Pituitary stalk interruption and olfactory bulbs aplasia/hypoplasia in a man with Kallmann syndrome and reversible gonadotrope and somatotrope deficiencies. (25381604)
2014
6
A novel nonsense mutation of the KAL1 gene (p.Trp204*) in Kallmann syndrome. (25328414)
2014
7
Mutations in FEZF1 cause Kallmann syndrome. (25192046)
2014
8
Olfactory dysfunction in children with Kallmann syndrome: relation of smell tests with brain magnetic resonance imaging. (25553765)
2014
9
Re: Identification of HESX1 mutations in Kallmann syndrome. (24703149)
2014
10
Kallmann syndrome and paranoid schizophrenia: a rare combination. (23329708)
2013
11
SEMA3A deletion in a family with Kallmann syndrome validates the role of semaphorin 3A in human puberty and olfactory system development. (22416012)
2012
12
Nasal embryonic LHRH factor (NELF) mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome. (21300340)
2011
13
The role of CHD7 and the newly identified WDR11 gene in patients with idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. (21856375)
2011
14
Copy number variation associated with Kallmann syndrome: new genetics insights from genome-wide studies. (21076436)
2011
15
Dental agenesis in Kallmann syndrome individuals with FGFR1 mutations. (20536592)
2010
16
Kallmann Syndrome and hypogonadotropic Hypogonadism.Concluding remarks. (20389094)
2010
17
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. (20139426)
2010
18
FGFR1 mutations in Kallmann syndrome. (20389085)
2010
19
Kallmann syndrome and mirror movements: White matter quantitative evaluation with magnetic resonance imaging. (20211475)
2010
20
Novel insights in FGFR1 regulation: lessons from Kallmann syndrome. (20117945)
2010
21
Diversity in fibroblast growth factor receptor 1 regulation: learning from the investigation of Kallmann syndrome. (18034870)
2008
22
Kallmann syndrome: a historical [corrected] clinical and molecular review]. (18345392)
2008
23
Whole-brain voxel-based morphometry in Kallmann syndrome associated with mirror movements. (18768731)
2008
24
Renal dysgenesis and KAL1 gene defects in patients with sporadic Kallmann syndrome. (17603054)
2007
25
Correction of congenital nasal hypoplasia associated with Kallmann syndrome using self-inflating injectable tissue expander pellets. (17051117)
2006
26
Kallmann syndrome in a 47,XXX patient. (16222664)
2005
27
Diagnosis and differential diagnosis of Kallmann syndrome]. (16281511)
2005
28
Clinical assessment and mutation analysis of Kallmann syndrome 1 (KAL1) and fibroblast growth factor receptor 1 (FGFR1, or KAL2) in five families and 18 sporadic patients. (15001591)
2004
29
Embryonic expression pattern of the Drosophila Kallmann syndrome gene kal-1. (15533820)
2004
30
Clinical and inheritance profiles of Kallmann syndrome in Jordan. (15500697)
2004
31
Kallmann syndrome: fibroblast growth factor signaling insufficiency? (15365636)
2004
32
Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. (12627230)
2003
33
Identification of three novel mutations in the KAL1 gene in patients with Kallmann syndrome. (12050219)
2002
34
A case of Kallmann syndrome: diagnostic usefulness of cranial magnetic resonance imaging]. (10965462)
2000
35
X-linked Kallmann syndrome and renal agenesis occurring together and independently in a large Australian family. (10076881)
1999
36
Kallmann syndrome and the link between olfactory and reproductive development. (10486312)
1999
37
Anosmin-1 is a regionally restricted component of basement membranes and interstitial matrices during organogenesis: implications for the developmental anomalies of X chromosome-linked Kallmann syndrome. (10340754)
1999
38
Renal abnormalities in patients with Kallmann syndrome. (10210557)
1999
39
Analysis of an interstitial deletion in a patient with Kallmann syndrome, X-linked ichthyosis and mental retardation. (9727739)
1998
40
Familial Kallmann syndrome: a novel splice acceptor mutation in the KAL gene. (9554756)
1998
41
The Kallmann syndrome gene product expressed in COS cells is cleaved on the cell surface to yield a diffusible component. (8842728)
1996
42
Case report: olfactory function in a fertile eunuch with Kallmann syndrome. (8615388)
1996
43
Variable penetrance of hypogonadism in a sibship with Kallmann syndrome due to a deletion of the KAL gene. (7677154)
1995
44
Characterization of the promoter of the human KAL gene, responsible for the X-chromosome-linked Kallmann syndrome. (7590336)
1995
45
Kallmann syndrome: MR evaluation of olfactory system. (8352154)
1993
46
Kallmann syndrome associated with complex chromosome rearrangement. (8456820)
1993
47
Structure of the X-linked Kallmann syndrome gene and its homologous pseudogene on the Y chromosome. (1303284)
1992
48
Prenatal diagnosis and investigation of a fetus with chondrodysplasia punctata, ichthyosis, and Kallmann syndrome due to an Xp deletion. (1557308)
1992
49
Luteinizing hormone-releasing hormone (LHRH)-expressing cells do not migrate normally in an inherited hypogonadal (Kallmann) syndrome. (2687610)
1989
50
HLA-compatible paternity in two "fertile eunuchs" with congenital hypogonadotropic hypogonadism and anosmia (the Kallmann syndrome). (6772660)
1980

Variations for Kallmann Syndrome

About this section

Clinvar genetic disease variations for Kallmann Syndrome:

5 (show all 71)
id Gene Variation Type Significance SNP ID Assembly Location
1ANOS1KAL1, 3,300-BP DELdeletionPathogenic
2ANOS1NM_000216.2(ANOS1): c.711G> A (p.Trp237Ter)single nucleotide variantPathogenicrs137852512GRCh37Chr X, 8555850: 8555850
3ANOS1NM_000216.2(ANOS1): c.769C> T (p.Arg257Ter)single nucleotide variantPathogenicrs137852513GRCh37Chr X, 8553395: 8553395
4ANOS1NM_000216.2(ANOS1): c.774G> A (p.Trp258Ter)single nucleotide variantPathogenicrs137852514GRCh37Chr X, 8553390: 8553390
5ANOS1KAL1, 1-BP DEL, PRO277FSdeletionPathogenic
6ANOS1KAL1, EX3-5DELdeletionPathogenic
7ANOS1NM_000216.2(ANOS1): c.1540G> A (p.Glu514Lys)single nucleotide variantPathogenicrs137852515GRCh37Chr X, 8504893: 8504893
8ANOS1KAL1, EX5DELdeletionPathogenic
9ANOS1KAL1, 11-BP DUP, NT158duplicationPathogenic
10ANOS1NM_000216.2(ANOS1): c.784C> T (p.Arg262Ter)single nucleotide variantPathogenicrs137852516GRCh37Chr X, 8553380: 8553380
11ANOS1KAL1, EX3-13 DELdeletionPathogenic
12ANOS1NM_000216.2(ANOS1): c.1187C> T (p.Ser396Leu)single nucleotide variantPathogenicrs137852517GRCh37Chr X, 8536293: 8536293
13ANOS1KAL1, EX3-6 DELdeletionPathogenic
14ANOS1NM_000216.2(ANOS1): c.1062+1G> Tsingle nucleotide variantPathogenicrs387906427GRCh37Chr X, 8538539: 8538539
15FGFR1NM_023110.2(FGFR1): c.443G> A (p.Arg148His)single nucleotide variantPathogenicrs515726222GRCh37Chr 8, 38285869: 38285869
16FGFR1NM_023110.2(FGFR1): c.790A> C (p.Asn264His)single nucleotide variantPathogenicrs515726223GRCh37Chr 8, 38282173: 38282173
17FGFR1NM_023110.2(FGFR1): c.1460G> A (p.Gly487Asp)single nucleotide variantPathogenicrs515726224GRCh37Chr 8, 38275480: 38275480
18FGFR1NM_023110.2(FGFR1): c.2084C> T (p.Thr695Ile)single nucleotide variantPathogenicrs515726225GRCh37Chr 8, 38271772: 38271772
19FGF8NM_033163.3(FGF8): c.451G> A (p.Gly151Ser)single nucleotide variantLikely pathogenicrs606231407GRCh37Chr 10, 103530370: 103530370
20FGF8NM_033163.3(FGF8): c.237C> G (p.Leu79=)single nucleotide variantLikely pathogenicrs606231408GRCh37Chr 10, 103534589: 103534589
21ANOS1NM_000216.2(ANOS1): c.1A> G (p.Met1Val)single nucleotide variantPathogenicrs606231409GRCh37Chr X, 8700077: 8700077
22PROK2NM_001126128.1(PROK2): c.70G> C (p.Ala24Pro)single nucleotide variantPathogenicrs587777863GRCh38Chr 3, 71784983: 71784983
23PROK2NM_001126128.1(PROK2): c.101G> A (p.Cys34Tyr)single nucleotide variantPathogenicrs587777864GRCh38Chr 3, 71781588: 71781588
24PROKR2NM_144773.2(PROKR2): c.343G> A (p.Val115Met)single nucleotide variantPathogenicrs138672528GRCh37Chr 20, 5294673: 5294673
25PROKR2NM_144773.2(PROKR2): c.533G> C (p.Trp178Ser)single nucleotide variantPathogenicrs201835496GRCh37Chr 20, 5283308: 5283308
26FGFR1NM_023110.2(FGFR1): c.709G> A (p.Gly237Ser)single nucleotide variantrisk factorrs121909635GRCh37Chr 8, 38283676: 38283676
27FGFR1NM_023110.2(FGFR1): c.2165C> A (p.Pro722His)single nucleotide variantrisk factorrs267606805GRCh37Chr 8, 38271691: 38271691
28FGFR1NM_023110.2(FGFR1): c.1409G> T (p.Arg470Leu)single nucleotide variantrisk factorrs121909637GRCh37Chr 8, 38275767: 38275767
29FGFR1NM_023110.2(FGFR1): c.142G> A (p.Gly48Ser)single nucleotide variantPathogenicrs121909640GRCh37Chr 8, 38287416: 38287416
30FGFR1NM_023110.2(FGFR1): c.2292G> T (p.Gln764His)single nucleotide variantPathogenicrs121909643GRCh37Chr 8, 38271436: 38271436
31FGFR1NM_023110.2(FGFR1): c.2302G> T (p.Asp768Tyr)single nucleotide variantrisk factorrs121909644GRCh37Chr 8, 38271313: 38271313
32FGFR1NM_023110.2(FGFR1): c.749G> A (p.Arg250Gln)single nucleotide variantrisk factorrs121909645GRCh37Chr 8, 38282214: 38282214
33TACR3NM_001059.2(TACR3): c.692C> T (p.Thr231Ile)single nucleotide variantLikely pathogenicrs764659822GRCh37Chr 4, 104579417: 104579417
34FGFR1NM_023110.2(FGFR1): c.565C> T (p.Arg189Cys)single nucleotide variantPathogenicGRCh37Chr 8, 38285495: 38285495
35CHD7NM_017780.3(CHD7): c.2442+5G> Csingle nucleotide variantPathogenicrs387906271GRCh37Chr 8, 61714157: 61714157
36CHD7CHD7, IVS8, G-A, +5single nucleotide variantPathogenic
37CHD7NM_017780.3(CHD7): c.164A> G (p.His55Arg)single nucleotide variantPathogenicrs121434345GRCh37Chr 8, 61654155: 61654155
38NSMFNM_001130969.1(NSMF): c.1438A> G (p.Thr480Ala)single nucleotide variantrisk factorrs121918340GRCh37Chr 9, 140344108: 140344108
39NSMFNM_015537.4(NSMF): c.1126-23_1126-15delTTGTGGCCTdeletionrisk factorrs606231136GRCh38Chr 9, 137452601: 137452609
40PROKR2NM_144773.2(PROKR2): c.518T> G (p.Leu173Arg)single nucleotide variantPathogenicrs74315416GRCh37Chr 20, 5283323: 5283323
41PROKR2NM_144773.2(PROKR2): c.629A> G (p.Gln210Arg)single nucleotide variantPathogenicrs74315417GRCh37Chr 20, 5283212: 5283212
42PROKR2NM_144773.2(PROKR2): c.254G> A (p.Arg85His)single nucleotide variantPathogenicrs74315418GRCh37Chr 20, 5294762: 5294762
43PROKR2NM_144773.2(PROKR2): c.58delC (p.His20Metfs)deletionPathogenicrs587777834GRCh38Chr 20, 5314312: 5314312
44PROKR2NM_144773.2(PROKR2): c.969G> A (p.Met323Ile)single nucleotide variantPathogenicrs74315419GRCh37Chr 20, 5282872: 5282872
45PROK2NM_001126128.1(PROK2): c.94G> C (p.Gly32Arg)single nucleotide variantPathogenicrs104893767GRCh37Chr 3, 71834110: 71834110
46PROK2PROK2, 1-BP INS, 234TinsertionPathogenic
47PROK2NM_001126128.1(PROK2): c.163delA (p.Ile55Terfs)deletionPathogenicrs554675432GRCh38Chr 3, 71781526: 71781526
48PROK2NM_001126128.1(PROK2): c.217C> T (p.Arg73Cys)single nucleotide variantPathogenicrs121434272GRCh37Chr 3, 71830623: 71830623
49WDR11WDR11, PHE1150LEUsingle nucleotide variantPathogenic
50SEMA3ASEMA3A, 213-KB DELdeletionrisk factor
51SEMA3ASEMA3A, 13-BP DEL, NT1613deletionrisk factor
52DUSP6NM_001946.3(DUSP6): c.566A> G (p.Asn189Ser)single nucleotide variantPathogenicrs143946794GRCh37Chr 12, 89744637: 89744637
53DUSP6NM_001946.3(DUSP6): c.545C> T (p.Ser182Phe)single nucleotide variantrisk factorrs139318648GRCh37Chr 12, 89744658: 89744658
54DUSP6NM_001946.3(DUSP6): c.1037C> T (p.Thr346Met)single nucleotide variantrisk factorrs146089505GRCh37Chr 12, 89743140: 89743140
55DUSP6NM_001946.3(DUSP6): c.229T> A (p.Phe77Ile)single nucleotide variantPathogenicrs587776978GRCh37Chr 12, 89745588: 89745588
56FGF17NM_003867.3(FGF17): c.323T> C (p.Ile108Thr)single nucleotide variantrisk factorrs398123024GRCh37Chr 8, 21904110: 21904110
57FGF17NM_003867.3(FGF17): c.560A> G (p.Asn187Ser)single nucleotide variantPathogenicrs398123026GRCh37Chr 8, 21905669: 21905669
58KISS1RNM_032551.4(KISS1R): c.581C> A (p.Ala194Asp)single nucleotide variantrisk factorrs397514699GRCh37Chr 19, 919949: 919949
59NM_013281.3(FLRT3): c.1016A> G (p.Lys339Arg)single nucleotide variantPathogenicrs398124654GRCh37Chr 20, 14307137: 14307137
60SPRY4NM_030964.3(SPRY4): c.530A> G (p.Lys177Arg)single nucleotide variantPathogenicrs78310959GRCh37Chr 5, 141694213: 141694213
61SPRY4SPRY4, VAL304ILEsingle nucleotide variantPathogenic
62SPRY4NM_030964.3(SPRY4): c.722C> A (p.Ser241Tyr)single nucleotide variantrisk factorrs139512218GRCh37Chr 5, 141694021: 141694021
63SPRY4NM_001127496.1(SPRY4): c.46G> A (p.Val16Ile)single nucleotide variantPathogenicrs587776981GRCh37Chr 5, 141694628: 141694628
64TACR3NM_001059.2(TACR3): c.824G> A (p.Trp275Ter)single nucleotide variantPathogenicrs144292455GRCh37Chr 4, 104577415: 104577415
65TACR3NM_001059.2(TACR3): c.766T> C (p.Tyr256His)single nucleotide variantPathogenicrs397515483GRCh37Chr 4, 104577473: 104577473
66ANOS1NM_000216.2(ANOS1): c.1449+2deldeletionPathogenicrs397518425GRCh37Chr X, 8507703: 8507703
67FGF8NM_033163.3(FGF8): c.40C> A (p.His14Asn)single nucleotide variantPathogenicrs137852659GRCh37Chr 10, 103535526: 103535526
68FGF8NM_033163.3(FGF8): c.77C> T (p.Pro26Leu)single nucleotide variantPathogenicrs137852660GRCh37Chr 10, 103534966: 103534966
69FGF8NM_033163.3(FGF8): c.118T> C (p.Phe40Leu)single nucleotide variantPathogenicrs137852661GRCh37Chr 10, 103534925: 103534925
70FGF8NM_033163.3(FGF8): c.298A> G (p.Lys100Glu)single nucleotide variantPathogenicrs137852662GRCh37Chr 10, 103534528: 103534528
71FGF8NM_033163.3(FGF8): c.379C> G (p.Arg127Gly)single nucleotide variantPathogenicrs137852663GRCh37Chr 10, 103531285: 103531285

Expression for genes affiliated with Kallmann Syndrome

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Search GEO for disease gene expression data for Kallmann Syndrome.

Pathways for genes affiliated with Kallmann Syndrome

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GO Terms for genes affiliated with Kallmann Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1integral component of plasma membraneGO:00058879.7FGFR1, FLRT3, HS6ST1, IL17RD, KISS1R, PROKR2

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

(show all 24)
idNameGO IDScoreTop Affiliating Genes
1forebrain morphogenesisGO:004885310.9FGF8, HESX1
2organ inductionGO:000175910.9FGF8, FGFR1
3positive regulation of neuron migrationGO:200122410.9NSMF, SEMA3A
4branching involved in salivary gland morphogenesisGO:006044510.9FGF8, FGFR1
5central nervous system neuron developmentGO:002195410.8FGF8, FGFR1
6nose developmentGO:004358410.8CHD7, HESX1
7otic vesicle formationGO:003091610.8FGF8, HESX1
8generation of neuronsGO:004869910.7FGF8, FGFR1
9motor neuron axon guidanceGO:000804510.7FGF8, SEMA3A
10phosphatidylinositol-mediated signalingGO:004801510.7FGF17, FGF8, FGFR1
11neuropeptide signaling pathwayGO:000721810.6KISS1R, PROK2, PROKR2
12neuron migrationGO:000176410.6FEZF1, FGFR1, SEMA3A
13olfactory bulb developmentGO:002177210.6CHD7, FEZF1, SEMA3A
14MAPK cascadeGO:000016510.3DUSP6, FGF17, FGF8, FGFR1, IL17RD
15activation of MAPKK activityGO:000018610.3DUSP6, FGF17, FGF8, FGFR1, IL17RD
16inner ear morphogenesisGO:004247210.3CHD7, FGF8, FGFR1
17Ras protein signal transductionGO:000726510.3DUSP6, FGF17, FGF8, FGFR1, IL17RD
18insulin receptor signaling pathwayGO:000828610.3DUSP6, FGF17, FGF8, FGFR1, IL17RD
19Fc-epsilon receptor signaling pathwayGO:003809510.2DUSP6, FGF17, FGF8, FGFR1, IL17RD
20neurotrophin TRK receptor signaling pathwayGO:004801110.2DUSP6, FGF17, FGF8, FGFR1, IL17RD
21fibroblast growth factor receptor signaling pathwayGO:000854310.1DUSP6, FGF17, FGF8, FGFR1, FLRT3, IL17RD
22vascular endothelial growth factor receptor signaling pathwayGO:004801010.0DUSP6, FGF17, FGF8, FGFR1, IL17RD
23epidermal growth factor receptor signaling pathwayGO:00071739.9DUSP6, FGF17, FGF8, FGFR1, IL17RD
24axon guidanceGO:00074119.2ANOS1, DUSP6, FEZF1, FGF17, FGF8, FGFR1

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

idNameGO IDScoreTop Affiliating Genes
1type 1 fibroblast growth factor receptor bindingGO:000510510.3FGF17, FGF8
2type 2 fibroblast growth factor receptor bindingGO:000511110.0FGF17, FGF8

Sources for Kallmann Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet