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, 46NIH Rare Diseases, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 48Novoseek, 37MeSH, 66UMLS, 25GTR, 28ICD10, 43NCIt, 67UMLS via Orphanet, 29ICD10 via Orphanet, 38MESH via Orphanet, 60SNOMED-CT
See all MalaCards sources

Aliases & Descriptions for Kallmann Syndrome:

Name: Kallmann Syndrome 11 46 24 13 52 48 37 66
Hypogonadism with Anosmia 11 24 25
Anosmic Idiopathic Hypogonadotropic Hypogonadism 46 24
Hypogonadotropic Hypogonadism-Anosmia Syndrome 46 24
Hypogonadotropic Hypogonadism and Anosmia 46 24
Olfacto-Genital Pathological Sequence 46 52
Anosmic Hypogonadism 46 24
 
Kallmann's Syndrome 46 24
Congenital Hypogonadotropic Hypogonadism with Anosmia 52
Dysplasia Olfactogenitalis of De Morsier 46
Familial Hypogonadism with Anosmia 11
Kallman's Syndrome 11
Kallman Syndrome 11

Characteristics:

Orphanet epidemiological data:

52
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
ICD1028 E23.0
MeSH37 D017436
NCIt43 C75479
Orphanet52 ORPHA478
UMLS via Orphanet67 C0162809
ICD10 via Orphanet29 E23.0
MESH via Orphanet38 D017436

Summaries for Kallmann Syndrome

About this section
NIH Rare Diseases:46 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 decreased fertility, anterior hypopituitarism and abnormality of the sense of smell. An important gene associated with Kallmann Syndrome is CHD7 (Chromodomain Helicase DNA Binding Protein 7), and among its related pathways are FGFR1 mutant receptor activation and Neural Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include breast, bone and kidney, and related mouse phenotypes are hearing/vestibular/ear and craniofacial.

Genetics Home Reference:24 Kallmann syndrome is a condition characterized by delayed or absent puberty and an impaired sense of smell.

Wikipedia:69 Kallmann syndrome is a rare genetic condition that is characterized by a failure to start or a failure... more...

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 79)
idRelated DiseaseScoreTop Affiliating Genes
1kallmann syndrome 311.9
2kallmann syndrome 411.9
3kallmann syndrome 511.9
4kallmann syndrome 611.9
5brachytelephalangy with characteristic facies and kallmann syndrome11.9
6kallmann syndrome-heart disease syndrome11.8
7hypogonadotropic hypogonadism 1 with or without anosmia11.5
8hypogonadotropic hypogonadism 2 with or without anosmia11.4
9hypogonadotropic hypogonadism 4 with or without anosmia11.2
10hypogonadotropic hypogonadism 5 with or without anosmia11.2
11hypogonadotropic hypogonadism 6 with or without anosmia11.2
12hypogonadotropic hypogonadism 3 with or without anosmia11.2
13waardenburg syndrome, type 2e, with or without neurologic involvement11.1
14anos1-related isolated gonadotropin-releasing hormone deficiency11.0
15fgfr1-related isolated gonadotropin-releasing hormone deficiency11.0
16chd7-related isolated gonadotropin-releasing hormone deficiency11.0
17fgf8-related isolated gonadotropin-releasing hormone deficiency11.0
18prok2-related isolated gonadotropin-releasing hormone deficiency11.0
19prokr2-related isolated gonadotropin-releasing hormone deficiency11.0
20septooptic dysplasia10.8
21severe hemophilia b10.6KISS1R, TACR3
22hypogonadism10.5
23hypogonadotropism10.5
24hidradenitis10.3ANOS1, FGFR1, KISS1R, PROK2, PROKR2
25cardiomyopathy, dilated, 2b10.3ANOS1, CHD7, FGF8, FGFR1, PROK2, PROKR2
26neuronitis10.2
27dysbaric osteonecrosis10.1ANOS1, KISS1R, PROK2, PROKR2, TACR3
28hypogonadotropic hypogonadism 13 with or without anosmia10.0
29hypogonadotropic hypogonadism 15 with or without anosmia10.0
30hypogonadotropic hypogonadism 18 with or without anosmia10.0
31hypogonadotropic hypogonadism 7 without anosmia10.0
32hypogonadotropic hypogonadism 11 with or without anosmia10.0
33hypogonadotropic hypogonadism 17 with or without anosmia10.0
34hypogonadotropic hypogonadism 16 with or without anosmia10.0
35hypogonadotropic hypogonadism with or without anosmia10.0
36hypogonadotropic hypogonadism 20 with or without anosmia10.0
37hypogonadotropic hypogonadism 12 with or without anosmia10.0
38hypogonadotropic hypogonadism 9 with or without anosmia10.0
39hypogonadotropic hypogonadism 14 with or without anosmia10.0
40hypogonadotropic hypogonadism 10 with or without anosmia10.0
41hypogonadotropic hypogonadism 19 with or without anosmia10.0
42hypogonadotropic hypogonadism 8 with or without anosmia10.0
43hypogonadotropic hypogonadism 21 with anosmia10.0
44schizophrenia9.9
45charge syndrome9.9
46ocular albinism9.9
47arachnoiditis9.9
48cleft lip9.9
49albinism9.9
50arachnoid cysts9.9

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



Diseases related to kallmann syndrome

Symptoms for Kallmann Syndrome

About this section

Symptoms:

 52 (show all 44)
  • abnormality of female internal genitalia
  • cryptorchidism
  • hypogonadotrophic hypogonadism
  • micropenis
  • renal agenesis
  • decreased fertility
  • cleft palate
  • sensorineural hearing impairment
  • anosmia
  • visual impairment
  • ptosis
  • abnormality of color vision
  • nystagmus
  • gynecomastia
  • primary amenorrhea
  • delayed puberty
  • anterior hypopituitarism
  • seizures
  • ataxia
  • muscular hypotonia
  • dysarthria
  • gait disturbance
  • muscle weakness
  • bimanual synkinesia
  • tremor
  • obesity
  • abnormality of the voice
  • pes cavus
  • pes planus
  • malformation of the heart and great vessels
  • skeletal dysplasia
  • delayed skeletal maturation
  • recurrent fractures
  • hypothalamic gonadotropin-releasing hormone (gnrh) deficiency
  • breast hypoplasia
  • reduced bone mineral density
  • hyposmia
  • ichthyosis
  • decreased testicular size
  • hypoplasia of penis
  • reduced number of teeth
  • paraplegia
  • dyspareunia
  • erectile abnormalities

HPO human phenotypes related to Kallmann Syndrome:

(show all 34)
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 skeletal dysplasia occasional (7.5%) HP:0002652
29 delayed skeletal maturation occasional (7.5%) HP:0002750
30 recurrent fractures occasional (7.5%) HP:0002757
31 hemiplegia/hemiparesis occasional (7.5%) HP:0004374
32 ichthyosis occasional (7.5%) HP:0008064
33 renal hypoplasia/aplasia occasional (7.5%) HP:0008678
34 reduced number of teeth occasional (7.5%) HP:0009804

UMLS symptoms related to Kallmann Syndrome:


anosmia, sense of smell impaired

Drugs & Therapeutics for Kallmann Syndrome

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

(show all 15)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
ZincPhase 421547440-66-632051, 23994
Synonyms:
30Zn
Cinc
Zinc
Zinc ion
 
Zincum
Zink
Zn
Zn(ii)
Zn2+
2
MenotropinsPhase 45761489-71-25360545
Synonyms:
61489-71-2
D02692
Human Menopausal Gonadotrophin
Human Menopausal Gonadotrophin (JP15)
 
Humegon
Humegon (TN)
LH)
MENOTROPINS
Menotropins (FSH
Menotropins (USP)
3
LetrozolePhase 2, Phase 3368112809-51-53902
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
4phenylalanineNutraceuticalPhase 2, Phase 3155
5
Testosterone enanthatePhase 2524315-37-79416
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
6Testosterone undecanoatePhase 2524
7
TestosteronePhase 252458-22-06013
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
8
MethyltestosteronePhase 252458-18-46010
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
9
Miconazole357322916-47-84189
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
10insulin4401
11
Ketoconazole17465277-42-147576, 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
12Estropipate207280-37-7
13
Estrone2053-16-75870
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
14Estradiol valerate1250979-32-8
15
Estradiol125050-28-25757, 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

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
3Letrozole Treatment in Normal and GnRH Deficient WomenActive, not recruitingNCT00351416Phase 2, Phase 3
4Pulsatile GnRH in Anovulatory InfertilityRecruitingNCT00383656Phase 2
5Administration of Kisspeptin to Subjects With Reproductive DisordersRecruitingNCT00914823Phase 2
6Follicle Stimulating Hormone (FSH) to Improve Testicular Development in Men With HypogonadismTerminatedNCT00064987Phase 2
7Kisspeptin in the Evaluation of Delayed PubertyRecruitingNCT01438034Phase 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
11Investigation of the Genetic Causes of Kallmann Syndrome and Reproductive DisordersRecruitingNCT00494169
12Examination of Idiopathic Hypogonadotropic Hypogonadism (IHH)and Kallmann Syndrome (KS)RecruitingNCT00392756
13The Genetic Investigation of Reproductive Disorders (Including Kallmann Syndrome)RecruitingNCT01601171
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 Anosmia25

Anatomical Context for Kallmann Syndrome

About this section

MalaCards organs/tissues related to Kallmann Syndrome:

34
Breast, Bone, Kidney, Heart, Olfactory bulb, Testes, Brain

Animal Models for Kallmann Syndrome or affiliated genes

About this section

MGI Mouse Phenotypes related to Kallmann Syndrome:

39 (show all 13)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537710.4CHD7, DUSP6, FGF8, FGFR1, HESX1, IL17RD
2MP:000538210.3CHD7, DUSP6, FEZF1, FGF8, FGFR1, HESX1
3MP:000538810.0CHD7, FEZF1, FGF8, HESX1, HS6ST1, SEMA3A
4MP:000537110.0CHD7, FGF8, FGFR1, HS6ST1, SOX10, SPRY4
5MP:00053859.8CHD7, DUSP6, FGF8, FGFR1, FLRT3, HS6ST1
6MP:00053849.8CHD7, DUSP6, FEZF1, FGF8, FGFR1, FLRT3
7MP:00053909.8CHD7, DUSP6, FGF8, FGFR1, HS6ST1, KISS1R
8MP:00053799.7CHD7, FGF8, FGFR1, HESX1, HS6ST1, KISS1R
9MP:00053869.6CHD7, FEZF1, FGF17, FGF8, FGFR1, KISS1R
10MP:00107689.3CHD7, DUSP6, FEZF1, FGF8, FGFR1, FLRT3
11MP:00053789.2CHD7, DUSP6, FEZF1, FGF8, FGFR1, FLRT3
12MP:00036319.1CHD7, FEZF1, FGF17, FGF8, FGFR1, FLRT3

Publications for Kallmann Syndrome

About this section

Articles related to Kallmann Syndrome:

(show top 50)    (show all 248)
idTitleAuthorsYear
1
CCDC141 Mutation Identified in Anosmic Hypogonadotropic Hypogonadism (Kallmann Syndrome) Alters GnRH Neuronal Migration. (27014940)
2016
2
Kallmann Syndrome: Eugenics and the Man behind the Eponym. (27101217)
2016
3
Autoimmunity meets genetics: Multiple sclerosis in a patient with Kallmann syndrome. (27423600)
2016
4
Kallmann syndrome patient with gender dysphoria, multiple sclerosis, and thrombophilia. (25739677)
2015
5
Late-diagnosed Kallmann syndrome. (25475520)
2015
6
Mutation analyses in pedigrees and sporadic cases of ethnic Han Chinese Kallmann syndrome patients. (26031747)
2015
7
Olfactory Agenesis in Kallmann Syndrome (KS). (26023587)
2015
8
Sublingual thyroid ectopy: similarities and differences with Kallmann syndrome. (25750738)
2015
9
Mutations in FEZF1 cause Kallmann syndrome. (25192046)
2014
10
Olfactory dysfunction in children with Kallmann syndrome: relation of smell tests with brain magnetic resonance imaging. (25553765)
2014
11
Re: Identification of HESX1 mutations in Kallmann syndrome. (24703149)
2014
12
Congenital hypogonadotropic hypogonadism and Kallmann syndrome as models for studying hormonal regulation of human testicular endocrine functions. (24815726)
2014
13
Brain changes in Kallmann syndrome. (24788131)
2014
14
Early treatment of Kallmann syndrome may prevent eunuchoid appearance and behavior. (24296236)
2014
15
Kallmann syndrome and paranoid schizophrenia: a rare combination. (23329708)
2013
16
Greater prevalence of PROKR2 mutations in Kallmann syndrome patients from the Maghreb than in European patients. (24031091)
2013
17
Computed tomography of the anterior skull base in Kallmann syndrome reveals specific ethmoid bone abnormalities associated with olfactory bulb defects. (23348397)
2013
18
Copy number variation associated with Kallmann syndrome: new genetics insights from genome-wide studies. (21076436)
2011
19
Dental agenesis in Kallmann syndrome individuals with FGFR1 mutations. (20536592)
2010
20
Kallmann Syndrome and hypogonadotropic Hypogonadism.Concluding remarks. (20389094)
2010
21
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
22
FGFR1 mutations in Kallmann syndrome. (20389085)
2010
23
An unusual case of autonomous hyperparathyroidism in a patient with X-linked hypophosphatemic rickets and Kallmann syndrome. (19214032)
2009
24
Kallmann syndrome: a historical [corrected] clinical and molecular review]. (18345392)
2008
25
Whole-brain voxel-based morphometry in Kallmann syndrome associated with mirror movements. (18768731)
2008
26
Correction of congenital nasal hypoplasia associated with Kallmann syndrome using self-inflating injectable tissue expander pellets. (17051117)
2006
27
Kallmann syndrome in a 47,XXX patient. (16222664)
2005
28
Diagnosis and differential diagnosis of Kallmann syndrome]. (16281511)
2005
29
Gonadotrophin therapy in Kallmann syndrome caused by heterozygous mutations of the gene for fibroblast growth factor receptor 1: report of three families: case report. (15845591)
2005
30
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
31
Embryonic expression pattern of the Drosophila Kallmann syndrome gene kal-1. (15533820)
2004
32
Kallmann syndrome: fibroblast growth factor signaling insufficiency? (15365636)
2004
33
Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. (12627230)
2003
34
Identification of three novel mutations in the KAL1 gene in patients with Kallmann syndrome. (12050219)
2002
35
Kallmann syndrome--a case report. (12380326)
2002
36
Heparan sulfate proteoglycan-dependent induction of axon branching and axon misrouting by the Kallmann syndrome gene kal-1. (11983919)
2002
37
A case of Kallmann syndrome: diagnostic usefulness of cranial magnetic resonance imaging]. (10965462)
2000
38
X-linked Kallmann syndrome and renal agenesis occurring together and independently in a large Australian family. (10076881)
1999
39
Kallmann syndrome and the link between olfactory and reproductive development. (10486312)
1999
40
Analysis of an interstitial deletion in a patient with Kallmann syndrome, X-linked ichthyosis and mental retardation. (9727739)
1998
41
Familial Kallmann syndrome: a novel splice acceptor mutation in the KAL gene. (9554756)
1998
42
Variable penetrance of hypogonadism in a sibship with Kallmann syndrome due to a deletion of the KAL gene. (7677154)
1995
43
Characterization of the promoter of the human KAL gene, responsible for the X-chromosome-linked Kallmann syndrome. (7590336)
1995
44
Functionally mature olfactory neurons from two anosmic patients with Kallmann syndrome. (7552292)
1995
45
Isolation and characterization of the gene responsible for the X chromosome-linked Kallmann syndrome. (7999985)
1994
46
X-linked Kallmann syndrome. A neuronal targeting defect in the olfactory system? (8513884)
1993
47
Prenatal diagnosis and investigation of a fetus with chondrodysplasia punctata, ichthyosis, and Kallmann syndrome due to an Xp deletion. (1557308)
1992
48
X chromosome-linked Kallmann syndrome: stop mutations validate the candidate gene. (1518845)
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

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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.

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:00058879.8FGFR1, FLRT3, HS6ST1, IL17RD, KISS1R, PROKR2

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

(show all 20)
idNameGO IDScoreTop Affiliating Genes
1forebrain morphogenesisGO:004885310.8FGF8, HESX1
2organ inductionGO:000175910.8FGF8, FGFR1
3nose developmentGO:004358410.8CHD7, HESX1
4otic vesicle formationGO:003091610.7FGF8, HESX1
5aorta morphogenesisGO:003590910.7CHD7, FGF8
6motor neuron axon guidanceGO:000804510.7FGF8, SEMA3A
7phosphatidylinositol-3-phosphate biosynthetic processGO:003609210.7FGF17, FGF8, FGFR1
8phosphatidylinositol phosphorylationGO:004685410.6FGF17, FGF8, FGFR1
9regulation of phosphatidylinositol 3-kinase signalingGO:001406610.6FGF17, FGF8, FGFR1
10positive regulation of neuron migrationGO:200122410.6NSMF, SEMA3A
11branching involved in salivary gland morphogenesisGO:006044510.6FGF8, FGFR1
12generation of neuronsGO:004869910.6FGF8, FGFR1
13phosphatidylinositol-mediated signalingGO:004801510.6FGF17, FGF8, FGFR1
14neuropeptide signaling pathwayGO:000721810.5KISS1R, PROK2, PROKR2
15fibroblast growth factor receptor signaling pathwayGO:000854310.4ANOS1, FGF17, FGF8, FGFR1, FLRT3
16inner ear morphogenesisGO:004247210.3CHD7, FGF8, FGFR1
17olfactory bulb developmentGO:002177210.2CHD7, FEZF1, SEMA3A
18MAPK cascadeGO:000016510.2DUSP6, FGF17, FGF8, FGFR1, IL17RD
19axon guidanceGO:000741110.0ANOS1, FEZF1, FLRT3, SEMA3A
20neuron migrationGO:00017649.8FEZF1, FGFR1, SEMA3A

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

idNameGO IDScoreTop Affiliating Genes
1fibroblast growth factor receptor bindingGO:000510410.8FGF8, FLRT3
21-phosphatidylinositol-3-kinase activityGO:001630310.6FGF17, FGF8, FGFR1
3phosphatidylinositol-4,5-bisphosphate 3-kinase activityGO:004693410.4FGF17, FGF8, FGFR1
4Ras guanyl-nucleotide exchange factor activityGO:000508810.1FGF17, FGF8, FGFR1
5protein tyrosine kinase activityGO:00047139.8FGF17, FGF8, FGFR1

Sources for Kallmann Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet