MCID: KLL001
MIFTS: 61

Kallmann Syndrome malady

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

Aliases & Classifications for Kallmann Syndrome

About this section
Sources:
11Disease Ontology, 13DISEASES, 25Genetics Home Reference, 27GTR, 30ICD10, 31ICD10 via Orphanet, 39MeSH, 40MESH via Orphanet, 45NCIt, 48NIH Rare Diseases, 50Novoseek, 54Orphanet, 62SNOMED-CT, 68UMLS, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Kallmann Syndrome:

Name: Kallmann Syndrome 11 48 25 54 50 39 13 68
Hypogonadism with Anosmia 11 25 27
Anosmic Idiopathic Hypogonadotropic Hypogonadism 48 25
Hypogonadotropic Hypogonadism-Anosmia Syndrome 48 25
Hypogonadotropic Hypogonadism and Anosmia 48 25
Olfacto-Genital Pathological Sequence 48 54
 
Anosmic Hypogonadism 48 25
Kallman's Syndrome 11 25
Congenital Hypogonadotropic Hypogonadism with Anosmia 54
Familial Hypogonadism with Anosmia 11
Kallmann's Syndrome 48
Kallman Syndrome 11

Characteristics:

Orphanet epidemiological data:

54
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 Ontology11 DOID:3614
ICD1030 E23.0
MeSH39 D017436
NCIt45 C75479
Orphanet54 ORPHA478
MESH via Orphanet40 D017436
ICD10 via Orphanet31 E23.0
UMLS via Orphanet69 C0162809

Summaries for Kallmann Syndrome

About this section
NIH Rare Diseases:48 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 anosmia, anosmia and Array. An important gene associated with Kallmann Syndrome is ANOS1 (Anosmin 1), and among its related pathways are Neural Crest Differentiation and Neural Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include bone, breast and kidney, and related mouse phenotypes are Increased shRNA abundance (Z-score > 2) and craniofacial.

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

Disease Ontology:11 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

About this section

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)
idRelated DiseaseScoreTop Affiliating Genes
1kallmann syndrome 311.8
2kallmann syndrome 411.8
3kallmann syndrome 511.8
4kallmann syndrome 611.8
5brachytelephalangy with characteristic facies and kallmann syndrome11.8
6kallmann syndrome-heart disease syndrome11.7
7hypogonadotropic hypogonadism 1 with or without anosmia11.7
8hypogonadotropic hypogonadism 2 with or without anosmia11.6
9hypogonadotropic hypogonadism 4 with or without anosmia11.5
10hypogonadotropic hypogonadism 5 with or without anosmia11.5
11hypogonadotropic hypogonadism 6 with or without anosmia11.5
12hypogonadotropic hypogonadism 3 with or without anosmia11.5
13waardenburg syndrome, type 2e, with or without neurologic involvement11.3
14anos1-related isolated gonadotropin-releasing hormone deficiency10.9
15fgfr1-related isolated gonadotropin-releasing hormone deficiency10.9
16hypogonadotropic hypogonadism 13 with or without anosmia10.9
17hypogonadotropic hypogonadism 15 with or without anosmia10.9
18hypogonadotropic hypogonadism 18 with or without anosmia10.9
19hypogonadotropic hypogonadism 7 without anosmia10.9
20hypogonadotropic hypogonadism 11 with or without anosmia10.9
21hypogonadotropic hypogonadism 17 with or without anosmia10.9
22hypogonadotropic hypogonadism 16 with or without anosmia10.9
23hypogonadotropic hypogonadism with or without anosmia10.9
24hypogonadotropic hypogonadism 20 with or without anosmia10.9
25hypogonadotropic hypogonadism 12 with or without anosmia10.9
26hypogonadotropic hypogonadism 9 with or without anosmia10.9
27hypogonadotropic hypogonadism 14 with or without anosmia10.9
28hypogonadotropic hypogonadism 10 with or without anosmia10.9
29hypogonadotropic hypogonadism 19 with or without anosmia10.9
30hypogonadotropic hypogonadism 8 with or without anosmia10.9
31hypogonadotropic hypogonadism 21 with anosmia10.9
32chd7-related isolated gonadotropin-releasing hormone deficiency10.8
33fgf8-related isolated gonadotropin-releasing hormone deficiency10.8
34prok2-related isolated gonadotropin-releasing hormone deficiency10.8
35prokr2-related isolated gonadotropin-releasing hormone deficiency10.8
36anosmia, isolated congenital10.7
37septooptic dysplasia10.7
38septo-optic dysplasia spectrum10.7
39hypogonadism10.4
40hypogonadotropism10.3
41malignant melanoma of the mucosa10.3KISS1R, TACR3
42capillary lymphangioma10.2ANOS1, KISS1R, PROK2, PROKR2
43microvascular complications of diabetes 510.2ANOS1, CHD7, FGF8, FGFR1, PROK2, PROKR2
44shwachman-diamond type metaphyseal dysplasia10.1ANOS1, KISS1R, PROK2, PROKR2
45neuronitis10.1
46ichthyosis10.1
47lis1-associated lissencephaly/subcortical band heterotopia10.0ANOS1, CHD7, FGF8, FGFR1, HS6ST1, KISS1R
48schizophrenia9.8
49charge syndrome9.8
50ocular albinism9.8

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



Diseases related to kallmann syndrome

Symptoms & Phenotypes for Kallmann Syndrome

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Human phenotypes related to Kallmann Syndrome:

 54 64 (show all 46)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of female internal genitalia54 Occasional (29-5%)
2 cryptorchidism64 54 Frequent (79-30%) HP:0000028
3 hypogonadotrophic hypogonadism64 54 Very frequent (99-80%) HP:0000044
4 micropenis64 54 Very frequent (99-80%) HP:0000054
5 renal agenesis64 54 Occasional (29-5%) HP:0000104
6 decreased fertility64 54 Very frequent (99-80%) HP:0000144
7 cleft palate64 54 Occasional (29-5%) HP:0000175
8 sensorineural hearing impairment64 54 Occasional (29-5%) HP:0000407
9 anosmia64 54 Very frequent (99-80%) HP:0000458
10 visual impairment64 54 Occasional (29-5%) HP:0000505
11 ptosis64 54 Occasional (29-5%) HP:0000508
12 abnormality of color vision64 54 Occasional (29-5%) HP:0000551
13 nystagmus64 54 Occasional (29-5%) HP:0000639
14 gynecomastia64 54 Occasional (29-5%) HP:0000771
15 primary amenorrhea64 54 Occasional (29-5%) HP:0000786
16 delayed puberty64 54 Very frequent (99-80%) HP:0000823
17 anterior hypopituitarism64 54 Very frequent (99-80%) HP:0000830
18 seizures64 54 Occasional (29-5%) HP:0001250
19 ataxia64 54 Occasional (29-5%) HP:0001251
20 muscular hypotonia64 54 Occasional (29-5%) HP:0001252
21 dysarthria64 54 Occasional (29-5%) HP:0001260
22 gait disturbance64 54 Occasional (29-5%) HP:0001288
23 muscle weakness64 54 Occasional (29-5%) HP:0001324
24 bimanual synkinesia64 54 Occasional (29-5%) HP:0001335
25 tremor64 54 Occasional (29-5%) HP:0001337
26 obesity64 54 Occasional (29-5%) HP:0001513
27 abnormality of the voice64 54 Frequent (79-30%) HP:0001608
28 pes cavus64 54 Occasional (29-5%) HP:0001761
29 pes planus64 54 Occasional (29-5%) HP:0001763
30 malformation of the heart and great vessels54 Occasional (29-5%)
31 skeletal dysplasia64 54 Occasional (29-5%) HP:0002652
32 delayed skeletal maturation64 54 Occasional (29-5%) HP:0002750
33 recurrent fractures64 54 Occasional (29-5%) HP:0002757
34 hypothalamic gonadotropin-releasing hormone (gnrh) deficiency54 Very frequent (99-80%)
35 breast hypoplasia64 54 Frequent (79-30%) HP:0003187
36 reduced bone mineral density64 54 Frequent (79-30%) HP:0004349
37 hyposmia64 54 Very frequent (99-80%) HP:0004409
38 ichthyosis64 54 Occasional (29-5%) HP:0008064
39 decreased testicular size64 54 Very frequent (99-80%) HP:0008734
40 hypoplasia of penis54 Very frequent (99-80%)
41 reduced number of teeth64 54 Occasional (29-5%) HP:0009804
42 paraplegia64 54 Occasional (29-5%) HP:0010550
43 dyspareunia64 54 Occasional (29-5%) HP:0030016
44 erectile abnormalities64 54 Very frequent (99-80%) HP:0100639
45 hypothalamic gonadotropin-releasing hormone deficiency64 HP:0003164
46 abnormality of cardiovascular system morphology64 HP:0030680

UMLS symptoms related to Kallmann Syndrome:


anosmia

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00366-A-19210.1FGF17, FGF8, SOX10, SPRY4

MGI Mouse Phenotypes related to Kallmann Syndrome according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000538210.4CHD7, DUSP6, FEZF1, FGF8, FGFR1, HESX1
2MP:000537710.4CHD7, DUSP6, FGF8, FGFR1, HESX1, IL17RD
3MP:000537110.2CHD7, FGF8, FGFR1, HS6ST1, SOX10, SPRY4
4MP:00053869.9CHD7, FEZF1, FGF17, FGF8, FGFR1, KISS1R
5MP:00053889.9CHD7, FEZF1, FGF8, HESX1, HS6ST1, SEMA3A
6MP:00053799.8CHD7, FGF8, FGFR1, HESX1, HS6ST1, KISS1R
7MP:00053849.7CHD7, DUSP6, FEZF1, FGF8, FGFR1, FLRT3
8MP:00107689.5CHD7, DUSP6, FEZF1, FGF8, FGFR1, FLRT3
9MP:00053789.4CHD7, DUSP6, FEZF1, FGF8, FGFR1, FLRT3
10MP:00036319.2CHD7, FEZF1, FGF17, FGF8, FGFR1, FLRT3

Drugs & Therapeutics for Kallmann Syndrome

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

(show all 40)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
ZincapprovedPhase 422967440-66-632051, 23994
Synonyms:
30Zn
Cinc
Zinc
Zinc ion
 
Zincum
Zink
Zn
Zn(ii)
Zn2+
2
MenotropinsapprovedPhase 46161489-71-25360545
Synonyms:
61489-71-2
D02692
Human Menopausal Gonadotrophin
Human Menopausal Gonadotrophin (JP15)
 
Humegon
Humegon (TN)
LH)
MENOTROPINS
Menotropins (FSH
Menotropins (USP)
3Chorionic GonadotropinPhase 4196
4Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 4, Phase 2, Phase 113168
5Follicle Stimulating HormonePhase 4, Phase 2167
6HormonesPhase 4, Phase 2, Phase 114415
7Hormone AntagonistsPhase 4, Phase 2, Phase 113180
8Fertility AgentsPhase 4505
9
Testosteroneapproved, investigationalPhase 2, Phase 156358-22-06013
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
Andriol
Andro
Andro 100
Andro L.A. 200
AndroGel
Androderm
Androderm (TN)
Androgel
Androgel (TN)
Android 10
Android 25
Android 5
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
B5DEE83F-632B-48A1-A0ED-A51E7F13DF2E
BIDD:ER0555
BIM-0061761.0001
Beta Testosterone
Bio-0678
Bio-T-Gel
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
Dea No. 4000
Delatest
Delatestryl
Depo-Testadiol
Depo-Testosterone
Depo-Testosterone Cypionate
Depotest
EINECS 200-370-5
Epitestosteron
Everone 200
Geno-Cristaux Gremy
Geno-cristaux Gremy
Geno-cristaux gremy
HMS2052N11
HSDB 3398
Halotensin
Homosteron
Homosterone
 
Intrinsa
LMST02020002
LS-148813
LibiGel
Libigel
Lumitestosteron
MLS000563091
MLS001032098
MLS001306401
MLS002174283
Malerone
Malestrone
Malestrone (amps)
Malogen in Oil
Malogen, Aquaspension Injection
Malogen, aquaspension injection
Mertestate
Metandren
Methyltestosterone
MolPort-002-506-901
NCGC00091018-01
NSC 9700
Neo-Hombreol F
Neo-Testis
Neo-testis
Neotestis
Oreton
Oreton F
Oreton Methyl
Oreton-F
Orquisteron
Perandren
Percutacrine Androgenique
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
TES
Teslen
Testamone 100
Testandrone
Testaqua
Testiculosterone
Testim
Testim (TN)
Testobase
Testoderm
Testoderm Tts
Testogel
Testoject-50
Testolent
Testolin
Testopel Pellets
Testopropon
Testosteroid
Testosteron
Testosterona
Testosterona [INN-Spanish]
Testosterone
Testosterone (JAN/USP)
Testosterone Cypionate
Testosterone Enanthate
Testosterone Hydrate
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
Testred Cypionate 200
Testrin-P.A
Testro AQ
Testro Aq
Testrone
Testryl
Tostrelle
Tostrex
Trans-Testosterone
UNII-3XMK78S47O
Viatrel
Virilon
Virilon IM
Virormone
Virosterone
ZINC06500184
beta testosterone
delta(sup 4)-Androsten-17(beta)-ol-3-one
delta4-Androsten-17beta-ol-3-one
delta4-androsten-17b-ol-3-one
testosterone
trans-Testosterone
10
MethyltestosteroneapprovedPhase 2, Phase 156358-18-46010
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
Methyltestosterone
Methyltestosteronum
Metiltestosterona
NSC-9701
Testred
Virilon
11Testosterone undecanoatePhase 2, Phase 1563
12Testosterone 17 beta-cypionatePhase 2, Phase 1563
13
Testosterone enanthatePhase 2, Phase 1563315-37-79416
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
14
Anastrozoleapproved, investigationalPhase 1279120511-73-12187
Synonyms:
.alpha.,alpha.,.alpha.',.alpha.'-tetramethyl-5(1H-1,2,4-triazol-1-ylmethyl)-m-benzenediacetonitrile
1,3-benzenediacetonitrile, a, a, a', a'-tetramethyl-5-(1H-1,2,4-triazol-1-ylmethyl)
120511-73-1
2,2'-(5-(1H-1,2,4-triazol-1-ylmethyl)-1,3-phenylene)bis(2-methylpropionitrile)
2,2'-[5-(1H-1,2,4-triazol-1-ylmethyl)-1,3-phenylene]bis(2-methylpropanenitrile)
2,2'-[5-(1H-1,2,4-triazol-1-ylmethyl)benzene-1,3-diyl]bis(2-methylpropanenitrile)
2-[3-(2-cyanopropan-2-yl)-5-(1,2,4-triazol-1-ylmethyl)phenyl]-2-methylpropanenitrile
AC-4234
AC1L1D49
Anastrazole
Anastrole
Anastrozol
Anastrozole (JAN/USAN/INN)
Anastrozole [USAN:INN:BAN]
Arimidex
Arimidex (TN)
Arimidex (Zeneca)
Arimidex, Anastrozole
Asiolex
Astra brand of anastrozole
AstraZeneca brand of anastrozole
C08159
C090450
C17H19N5
CHEBI:2704
CHEMBL1399
CID2187
CPD000466301
 
D00960
DB01217
HMS2052M11
HMS2089N10
HSDB 7462
I06-0021
ICI D1033
ICI-D 1033
ICI-D1033
LS-29563
MLS000759396
MLS001424217
MolPort-005-933-078
NCGC00164619-01
NSC719344
S1188_Selleck
SAM001246525
SBB066057
SMR000466301
UNII-2Z07MYW1AZ
ZD 1033
ZD-1033
ZD1033
ZINC00000941
Zeneca ZD 1033
Zeneca brand of anastrozole
alpha,alpha,Alpha',alpha'-tetramethyl-5-(1H-1,2,4-triazol-1-ylmethyl)-m-benzenediacetonitrile
alpha,alpha,alpha',alpha'-Tetramethyl-5-(1H-1,2,4-triazol-1-ylmethyl)-m-benzenediacetonitrile
anastrazole
anastrozole
15Hypoglycemic AgentsPhase 15896
16insulinPhase 14646
17Insulin, Globin ZincPhase 14645
18Antineoplastic Agents, HormonalPhase 15592
19Anabolic AgentsPhase 1513
20AndrogensPhase 11321
21Steroid Synthesis InhibitorsPhase 11763
22EstrogensPhase 12542
23Estrogen AntagonistsPhase 11349
24Aromatase InhibitorsPhase 1826
25
Miconazoleapproved, investigational, vet_approved370622916-47-84189
Synonyms:
(+-)-1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole
1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole
1-(2,4-dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl) imidazole
1-[2,4-Dichloro- beta-([2,4-dichloro- benzyl]oxy)phenethyl]imidazole
1-[2-(2,4-Dichloro-benzyloxy)-2-(2,4-dichloro-phenyl)-ethyl]-1H-imidazole
1-[2-(2,4-Dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]-1H-imidazole
1-[2-(2,4-dichlorobenzyloxy)-2-(2,4-dichlorophenyl)ethyl]-1H-imidazole
1-[2-(2,4-dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]imidazole
1-[2-(2,4-dichlorophenyl)-2-{[(2,4-dichlorophenyl)methyl]oxy}ethyl]-1H-imidazole
1-{2-[(2,4-dichlorobenzyl)oxy]-2-(2,4-dichlorophenyl)ethyl}-1H-imidazole
22832-87-7 (NITRATE)
22916-47-8
75319-47-0
AB00053500
AC1L1HM1
AKOS001574474
Aflorix(nitrate)
Albistat(nitrate)
Andergin(nitrate)
BPBio1_000279
BRD-A82396632-001-03-0
BRD-A82396632-008-02-7
BRN 0965511
BSPBio_000253
BSPBio_002033
CCRIS 7924
CHEBI:6923
CHEMBL91
CID4189
CPD-4501
Conofite(nitrate)
D00416
DB01110
Dactarin
Daktarin IV
Daktarin iv
DivK1c_000156
EINECS 245-324-5
Epi-Monistat(nitrate)
Femizol-M
Florid(nitrate)
Gyno-Daktar(nitrate)
HMS1568M15
HMS2090B21
I14-14342
IDI1_000156
Imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl)methoxy)ethyl)- (9CI)
KBio1_000156
KBio2_001445
KBio2_004013
KBio2_006581
KBio3_001533
KBioGR_000581
KBioSS_001445
LS-78378
Lotrimin AF(nitrate)
MCZ
MJR 1762
MLS002222203
Micantin (nitrate)
Miconasil Nitrate
 
Miconazol
Miconazol [INN-Spanish]
Miconazole
Miconazole (JP15/USP/INN)
Miconazole 3
Miconazole 3 Combination Pack
Miconazole 7 Combination Pack
Miconazole [USAN:BAN:INN:JAN]
Miconazole nitrate salt
Miconazole-7
Miconazolo
Miconazolo [DCIT]
Miconazolum
Miconazolum [INN-Latin]
Micozole
Minostate
MolPort-002-557-553
Monazole 7
Monista (nitrate)
Monistat
Monistat (TN)
Monistat 1 Combination Pack
Monistat 3 Dual-Pak
Monistat 3 Vaginal Ovules
Monistat 5 Tampon
Monistat 7 Dual-Pak
Monistat 7 Vaginal Suppositories
Monistat Dual- PAK
Monistat IV
Monistat iv (TN)
Monistat iv (tn)
Monistat-Derm
NCI60_001353
NCI60_001380
NINDS_000156
NSC 170986
NSC169434
NSC170986
Novo-Miconazole Vaginal Ovules
Oprea1_091955
Prestwick0_000067
Prestwick1_000067
Prestwick2_000067
Prestwick3_000067
Prestwick_335
R 18134
R-14,889
SMR001307249
SPBio_000976
SPBio_002174
STK834405
STOCK1S-93556
Spectrum2_001048
Spectrum3_000507
Spectrum4_000061
Spectrum5_001297
Spectrum_000965
UNII-7NNO0D7S5M
Vusion
Zimycan
imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl) methoxy)ethyl)- (9CI)
miconazole
26
Ketoconazoleapproved, investigational17565277-42-147576, 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
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, 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
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
27
Estroneapproved2153-16-75870
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
28
Estradiolapproved, investigational, vet_approved131850-28-25757, 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
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 [USAN:INN]
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
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
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)
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
29Cytochrome P-450 CYP3A Inhibitors1715
30Antifungal Agents3696
31Anti-Infective Agents22062
32Cytochrome P-450 Enzyme Inhibitors3917
33Estropipate217280-37-7
34Polyestradiol phosphate1318
35Trisequens5
36Contraceptive Agents1967
37Drospirenone and ethinyl estradiol combination90
38Estradiol 17 beta-cypionate1318
39Estradiol 3-benzoate1318
40Estradiol valerate1318979-32-8

Interventional clinical trials:

(show all 20)
idNameStatusNCT IDPhase
1Sequential Therapy for Hypogonadotropic HypogonadismCompletedNCT01403532Phase 4
2Human Menopausal Gonadotropin Combining With Human Chorionic Gonadotropin Treat Congenital Hypogonadotropic HypogonadismRecruitingNCT02880280Phase 4
3Pulsatile GnRH in Anovulatory InfertilityRecruitingNCT00383656Phase 2
4Follicle Stimulating Hormone (FSH) to Improve Testicular Development in Men With HypogonadismTerminatedNCT00064987Phase 2
5Kisspeptin in the Evaluation of Delayed PubertyRecruitingNCT01438034Phase 1
6Administration of Kisspeptin to Subjects With Reproductive DisordersRecruitingNCT00914823Phase 1
7Effect of Varying Testosterone Levels on Insulin Sensitivity in Men With Idiopathic Hypogonadotropic Hypogonadism (IHH)TerminatedNCT03118479Phase 1
8Investigating the Regulation of Reproductive Hormones in Adult MenCompletedNCT00392457
9Study of a Large Family With Congenital Mirror Movements : From Underlying Pathophysiology to Culprit Gene Identification PROJET " MOMIC "CompletedNCT01075061
10Effect of Varying Testosterone Levels on Insulin Sensitivity in Normal and IHH MenCompletedNCT00470990
11Examination of Idiopathic Hypogonadotropic Hypogonadism (IHH)and Kallmann Syndrome (KS)RecruitingNCT00392756
12The Genetic Investigation of Reproductive Disorders (Including Kallmann Syndrome)RecruitingNCT01601171
13Investigation of the Genetic Causes of Kallmann Syndrome and Reproductive DisordersRecruitingNCT00494169
14Baselines in Reproductive DisordersRecruitingNCT00456274
15Psychological Outcomes in Isolated GnRH DeficiencyRecruitingNCT02356172
16Hormonal Regulation of Puberty and FertilityRecruitingNCT01511588
17Inherited Reproductive DisordersRecruitingNCT01500447
18Health Needs of Patients With Kallmann SyndromeActive, not recruitingNCT01914172
19Studying the Effects of 7 Days of Gonadotropin Releasing Hormone (GnRH) Treatment in Men With HypogonadismActive, not recruitingNCT00493961
20A 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 Anosmia27

Anatomical Context for Kallmann Syndrome

About this section

MalaCards organs/tissues related to Kallmann Syndrome:

36
Bone, Breast, Kidney, Testes, Olfactory bulb, Heart, Brain

Publications for Kallmann Syndrome

About this section

Articles related to Kallmann Syndrome:

(show top 50)    (show all 255)
idTitleAuthorsYear
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

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

(show all 22)
idNameGO IDScoreTop Affiliating Genes
1branching involved in salivary gland morphogenesisGO:006044511.1FGF8, FGFR1
2generation of neuronsGO:004869911.1FGF8, FGFR1
3aorta morphogenesisGO:003590911.1CHD7, FGF8
4forebrain morphogenesisGO:004885311.1FGF8, HESX1
5motor neuron axon guidanceGO:000804511.0FGF8, SEMA3A
6inner ear morphogenesisGO:004247211.0CHD7, FGF8, FGFR1
7organ inductionGO:000175911.0FGF8, FGFR1
8nose developmentGO:004358410.9CHD7, HESX1
9negative chemotaxisGO:005091910.9FLRT3, SEMA3A
10otic vesicle formationGO:003091610.9FGF8, HESX1
11neuropeptide signaling pathwayGO:000721810.9KISS1R, PROK2, PROKR2
12neuron migrationGO:000176410.9FEZF1, FGFR1, SEMA3A
13axon guidanceGO:000741110.9ANOS1, FEZF1, FLRT3, SEMA3A
14olfactory bulb developmentGO:002177210.8CHD7, FEZF1, SEMA3A
15phosphatidylinositol phosphorylationGO:004685410.8FGF17, FGF8, FGFR1
16positive regulation of neuron migrationGO:200122410.8NSMF, SEMA3A
17phosphatidylinositol-3-phosphate biosynthetic processGO:003609210.8FGF17, FGF8, FGFR1
18fibroblast growth factor receptor signaling pathwayGO:000854310.8ANOS1, FGF17, FGF8, FGFR1, FLRT3
19phosphatidylinositol-mediated signalingGO:004801510.7FGF17, FGF8, FGFR1
20MAPK cascadeGO:000016510.7DUSP6, FGF17, FGF8, FGFR1, IL17RD
21multicellular organism developmentGO:000727510.5FEZF1, FGF17, FGF8, FLRT3, HESX1, SEMA3A
22regulation of phosphatidylinositol 3-kinase signalingGO:001406610.2FGF17, FGF8, FGFR1

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

idNameGO IDScoreTop Affiliating Genes
1chemorepellent activityGO:004549910.9FLRT3, SEMA3A
21-phosphatidylinositol-3-kinase activityGO:001630310.9FGF17, FGF8, FGFR1
3phosphatidylinositol-4,5-bisphosphate 3-kinase activityGO:004693410.9FGF17, FGF8, FGFR1
4Ras guanyl-nucleotide exchange factor activityGO:000508810.8FGF17, FGF8, FGFR1
5fibroblast growth factor receptor bindingGO:000510410.8FGF17, FGF8, FLRT3
6RNA polymerase II core promoter proximal region sequence-specific DNA bindingGO:000097810.1CHD7, FEZF1, HESX1, SOX10

Sources for Kallmann Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet