MCID: KLN001
MIFTS: 57

Klinefelter's Syndrome malady

Genetic diseases, Rare diseases categories

Aliases & Classifications for Klinefelter's Syndrome

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Aliases & Descriptions for Klinefelter's Syndrome:

Name: Klinefelter's Syndrome 10 45 23 12 35
Klinefelter Syndrome 10 68 45 23 65 36
Xxy Trisomy 10 68 45 23 65
Hypogonadotropic Hypogonadism 10 22 24 65
Xxy Syndrome 10 68 45 23
 
Klinefelters Syndrome 47
47, Xxy 45
47 Xxy 45
47,xxy 68


Classifications:



External Ids:

Disease Ontology10 DOID:1921
ICD9CM29 758.7
NCIt42 C34752
ICD1027 Q98.4

Summaries for Klinefelter's Syndrome

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NIH Rare Diseases:45 47, xxy refers to the presence of an additional x chromosome in a person's body cells. some individuals with a 47, xxy chromosome finding do not appear different from other individuals, and they may have mild symptoms or no apparent symptoms. during the first few years of life, most 47, xxy males do not show any obvious differences from typical male infants and young boys. children may have slightly weaker muscles, delayed development of motor skills, and learning and/or language problems. in later adolescence and adulthood, 47, xxy males can have features of klinefelter syndrome, which can include primary hypogonadism (decreased testosterone production), small testes, enlarged breast tissue (gynecomastia), tall stature, and/or other features. although the vast majority of individuals with 47, xxy identify as males, some develop atypical gender identities. there have been reports of individuals with 47, xxy having a female physical appearance, but in most cases this was attributed to changes in specific genes related to sexual development. most 47, xxy males are infertile, but many produce sperm and may be able to conceive with assisted reproduction. treatment varies among individuals and may include testosterone therapy; however, this therapy may not be appropriate for all individuals. last updated: 9/20/2013

MalaCards based summary: Klinefelter's Syndrome, also known as klinefelter syndrome, is related to testicular disease and sexual disorder, and has symptoms including decreased fertility, disproportionate tall stature and neurological speech impairment. An important gene associated with Klinefelter's Syndrome is GNRHR (Gonadotropin-Releasing Hormone Receptor), and among its related pathways are Hormone ligand-binding receptors and Nongenotropic Androgen signaling. Affiliated tissues include breast, testes and bone, and related mouse phenotypes are digestive/alimentary and renal/urinary system.

Genetics Home Reference:23 Klinefelter syndrome is a chromosomal condition that affects male physical and cognitive development. Its signs and symptoms vary among affected individuals.

MedlinePlus:35 Klinefelter syndrome (ks) is a condition that occurs in men who have an extra x chromosome. the syndrome can affect different stages of physical, language, and social development. the most common symptom is infertility. boys may be taller than other boys their age, with more fat around the belly. after puberty, ks boys may have smaller testes and penis breast growth less facial and body hair reduced muscle tone narrower shoulders and wider hips weaker bones decreased sexual interest lower energy ks males may have learning or language problems. they may be quiet and shy and have trouble fitting in. a genetic test can diagnose ks. there is no cure, but treatments are available. it is important to start treatment as early as possible. with treatment, most boys grow up to have normal lives. treatments include testosterone replacement therapy and breast reduction surgery. if needed, physical, speech, language, and occupational therapy may also help. nih: national institute of child health and human development

Wikipedia:68 Klinefelter syndrome or Klinefelter\'s syndrome (KS) (/ˈklaɪnfɛltər/) also known as 47,XXY or XXY,... more...

Related Diseases for Klinefelter's Syndrome

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Diseases related to Klinefelter's Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 367)
idRelated DiseaseScoreTop Affiliating Genes
1testicular disease30.7INSL3, SHBG, XIST
2sexual disorder30.4AMH, AR, CYP19A1, GNRH1, PRL, SHBG
3anovulation30.4GNRH1, PRL
4gonadal dysgenesis30.3AMH, AR, CYP19A1, FGFR1, GNRH1
5azoospermia30.3AR, DAZ4, GNRHR, PRL, SHBG
6penile disease30.1GNRH1, PRL, SHBG
7kallmann syndrome10.9
8hypogonadotropic hypogonadism 7 without anosmia10.8
9hypogonadotropic hypogonadism 2 with or without anosmia10.8
10hypogonadotropic hypogonadism 1 with or without anosmia10.8
11hypogonadotropic hypogonadism 13 with or without anosmia10.7
12hypogonadotropic hypogonadism 11 with or without anosmia10.7
13hypogonadotropic hypogonadism 16 with or without anosmia10.7
14hypogonadotropic hypogonadism 12 with or without anosmia10.7
15hypogonadotropic hypogonadism 9 with or without anosmia10.7
16hypogonadotropic hypogonadism 10 with or without anosmia10.7
17hypogonadotropic hypogonadism 8 with or without anosmia10.7
18cerebellar ataxia and hypogonadotropic hypogonadism10.7
19hypogonadotropic hypogonadism 15 with or without anosmia10.7
20hypogonadotropic hypogonadism 4 with or without anosmia10.7
21hypogonadotropic hypogonadism 6 with or without anosmia10.7
22hypogonadotropic hypogonadism 3 with or without anosmia10.7
23hypogonadotropic hypogonadism 18 with or without anosmia10.7
24hypogonadotropic hypogonadism 17 with or without anosmia10.7
25hypogonadotropic hypogonadism with or without anosmia10.7
26hypogonadotropic hypogonadism 20 with or without anosmia10.7
27hypogonadotropic hypogonadism 5 with or without anosmia10.7
28hypogonadotropic hypogonadism 14 with or without anosmia10.7
29hypogonadotropic hypogonadism 19 with or without anosmia10.7
30hypogonadotropic hypogonadism 21 with anosmia10.7
31obesity10.6
32hypogonadotropic hypogonadism 23 with or without anosmia10.6
33leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism10.6
34isolated gonadotropin-releasing hormone deficiency10.6
35x-linked adrenal hypoplasia congenita10.6
36hypogonadism10.6
37leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism10.6
38female reproductive system disease10.6
39normosmic congenital hypogonadotropic hypogonadism10.6
40hermaphroditism10.6
41aicardi syndrome10.5
42hypogonadotropism10.5
43chromosomal disease10.5
44gonadal disease10.5
45hypogonadotropic hypogonadism 24 without anosmia10.5
46boucher-neuhauser syndrome10.5
47pol iii-related leukodystrophies10.5
48ataxia10.5
49adult syndrome10.5
50adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism10.5

Graphical network of the top 20 diseases related to Klinefelter's Syndrome:



Diseases related to klinefelter's syndrome

Symptoms for Klinefelter's Syndrome

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HPO human phenotypes related to Klinefelter's Syndrome:

(show all 21)
id Description Frequency HPO Source Accession
1 decreased fertility hallmark (90%) HP:0000144
2 disproportionate tall stature hallmark (90%) HP:0001519
3 neurological speech impairment hallmark (90%) HP:0002167
4 abnormality of chromosome segregation hallmark (90%) HP:0002916
5 cryptorchidism typical (50%) HP:0000028
6 long face typical (50%) HP:0000276
7 mandibular prognathia typical (50%) HP:0000303
8 single transverse palmar crease typical (50%) HP:0000954
9 obesity typical (50%) HP:0001513
10 scoliosis typical (50%) HP:0002650
11 eunuchoid habitus typical (50%) HP:0003782
12 clinodactyly of the 5th finger typical (50%) HP:0004209
13 reduced bone mineral density typical (50%) HP:0004349
14 venous insufficiency typical (50%) HP:0005293
15 hypoplasia of penis typical (50%) HP:0008736
16 abnormal hair quantity typical (50%) HP:0011362
17 abnormality of movement typical (50%) HP:0100022
18 abnormality of the mitral valve occasional (7.5%) HP:0001633
19 abnormality of calvarial morphology occasional (7.5%) HP:0002648
20 neoplasm occasional (7.5%) HP:0002664
21 type ii diabetes mellitus occasional (7.5%) HP:0005978

Drugs & Therapeutics for Klinefelter's Syndrome

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Drugs for Klinefelter's Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 14)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
MethyltestosteroneapprovedPhase 4, Phase 2, Phase 345358-18-46010
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
2
Testosteroneapproved, investigationalPhase 4, Phase 2, Phase 345358-22-06013
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
3Testosterone undecanoatePhase 4, Phase 2, Phase 3453
4
Testosterone enanthatePhase 4, Phase 2, Phase 3453315-37-79416
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
5Testosterone 17 beta-cypionatePhase 4, Phase 2, Phase 3457
6LaxativesPhase 2, Phase 3278
7CatharticsPhase 2, Phase 3278
8Castor OilPhase 2, Phase 320
9CastorNutraceuticalPhase 2, Phase 321
10
IsotretinoinapprovedPhase 21104759-48-25538, 5282379
Synonyms:
(13-cis)-Retinoate
(13-cis)-Retinoic acid
(13cis)-retinoic acid
(2Z,4E,6E,8E)-3,7-dimethyl-9-(2,6,6-trimethylcyclohexen-1-yl)nona-2,4,6,8-tetraenoic acid
(2Z,4E6E,8E)-3,7-dimethyl-9-(2,6,6-trimethylcyclohex-1-en-1-yl)nona-2,4,6,8-tetraenoic acid
(7E,9E,11E,13Z)-retinoic acid
(7e,9e,11e,13Z)-Retinoic acid
13 Cis-Retinoic Acid
13 cis retinoic acid
13-RA
13-cis RA
13-cis retinoic acid
13-cis-Retinoate
13-cis-Retinoic acid
13-cis-Vitamin A acid
13-cis-Vitamin a acid
3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)2-cis-4-trans-6-trans-8-trans-nonatetraenoic acid
4-09-00-02388 (Beilstein Handbook Reference)
4759-48-2
97950-17-9
AC-15388
AC1NQZZ4
Absorica
Accutane
Accutane (TN)
Ambap302-79-4
Amnesteem
BML2-E07
BPBio1_000080
BRD-K76723084-001-05-9
BRN 1885770
BSPBio_000072
BSPBio_001331
BSPBio_003345
CCRIS 4286
CHEBI:6067
CHEMBL547
CID5282379
CIP-Isotretinoin
CPD000471891
Claravis
Clarus
D00348
D015474
EINECS 225-296-0
EU-0101081
Epuris
HMS1361C13
HMS1568D14
HMS1791C13
HMS1921D08
HMS1989C13
HMS2092N07
HSDB 3929
IDI1_033801
Isotane
Isotretinoin
Isotretinoin (USP)
 
Isotretinoin Retinoic acid
Isotretinoin Zinc Salt, 13 cis Isomer
Isotretinoin Zinc Salt, 13-cis-Isomer
Isotretinoin [USAN:BAN:INN]
Isotretinoin [USAN:INN:BAN]
Isotretinoina
Isotretinoine
Isotretinoine [INN-French]
Isotretinoino
Isotretinoino [INN-Spanish]
Isotretinoinum
Isotretinoinum [INN-Latin]
Isotrex
LMPR01090021
LS-143465
Lopac0_001081
MLS001074662
MolPort-003-666-394
Myorisan
NCGC00094358-01
NCGC00094358-02
NCGC00094358-03
NCGC00094358-04
NCGC00094358-05
NCGC00094358-06
NCGC00094358-07
NCGC00094358-08
NCGC00094358-09
NCGC00094358-13
Neovitamin A acid
Neovitamin a acid
Prestwick2_000256
Prestwick3_000256
Prestwick_642
R 3255
R3255_SIGMA
Retinoate
Retinoic acid
Ro 4 3780
Ro 4-3780
Ro 43780
Ro-4-3780
Ro-43780
Roaccutan
Roaccutane
Roacutan
SAM002548955
SMR000471891
SPECTRUM1502013
Sotret
Sotret (TN)
Spectrum5_001795
Spectrum5_001937
Teriosal
UNII-EH28UP18IF
Zenatane
cis-RA
cis-Retinoate
cis-Retinoic acid
isotretinoino
11
Oxandroloneapproved, investigationalPhase 21553-39-45878
Synonyms:
(1S,3aS,3bR,5aS,9aS,9bS,11aS)-1-hydroxy-1,9a,11a-trimethyl-2,3,3a,3b,4,5,5a,6,9,9b,10,11-dodecahydroindeno[4,5-h]isochromen-7-one
(4aS,4bS,6aS,7S,9aS,9bR,11aS)-7-hydroxy-4a,6a,7-trimethyltetradecahydroindeno[4,5-h]isochromen-2(1H)-one
17-beta-hydroxy-17-methyl-2-oxa-androstan-3-one
17-beta-hydroxy-17-methyl-2-oxa-androstan-3-one (9CI)
17beta-Hydroxy-17-methyl-2-oxa-5alpha-androstan-3-one
17beta-Hydroxy-17alpha-methyl-2-oxa-5alpha-androstan-3-one
2-Oxa-5alpha-androstan-3-one, 17beta-hydroxy-17-methyl- (8CI)
2-Oxaandrostan-3-one, 17-hydroxy-17-methyl-, (5-alpha,17-beta)- (9CI)
53-39-4
8075 C. B
8075 C. B.
8075 C.B
8075 C.B.
8075 CB
AC-14975
AC1L1LBY
Ambap53-39-4
Anavar
C07346
C19H30O3
CHEBI:7820
CHEMBL1200436
CID5878
D00462
DB00621
Dodecahydro-3-hydroxy-6-(hydroxy-methyl)-3,3a,6-trimethyl-1H-benz(e)indene-7-acetic acid delta-lactone
EINECS 200-172-9
 
HSDB 3373
LS-98540
Lonavar
MolPort-003-986-935
NSC 67068
OXANDROLONE
Ossandrolone
Ossandrolone [DCIT]
Oxandrin
Oxandrin (TN)
Oxandrin, Anavar, Oxandrolone
Oxandrolon
Oxandrolona
Oxandrolona [INN-Spanish]
Oxandrolone
Oxandrolone (JAN/USP/INN)
Oxandrolone [USAN:INN:BAN:JAN]
Oxandrolonum
Oxandrolonum [INN-Latin]
Protivar
Provitar
S1753_Selleck
SC 11585
SC-11585
TL8003512
UNII-7H6TM3CT4L
Vasorome
ZINC03813047
12
Tretinoinapproved, investigational, nutraceuticalPhase 2200302-79-45538, 444795, 444795, 5538
Synonyms:
(all-E)-3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraenoate
(all-E)-3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraenoic acid
(all-e)-3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraenoic acid
.beta.-Retinoic acid
13497-05-7 (hydrochloride salt)
15-Apo-beta-caroten-15-oic acid
187175-63-9
1n4h
3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraenoate
3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraenoic acid
3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexene-1-yl)-2,4,6,8-nonatetraenoic acid (ecl)
302-79-4
5300-03-8
56573-65-0
7005-78-9
9(Z)-Retinoic acid
9-cis-RA
A-Acido (Argentina)
A-Vitaminsyre
A-Vitaminsyre [Denmark]
AC-6824
AC1L9GWO
AC1Q1J2J
AGN 100335
AGN 192013
AKOS000280845
ALRT 1057
AT-RA
ATRA
Aberel
Aberela
Aberela [Norway]
Accutane
Accutane Roche
Acid A Vit (Belgium, Netherlands)
Acid, Retinoic
Acid, Vitamin A
Acid, all-trans-Retinoic
Acid, beta-all-trans-Retinoic
Acid, trans-Retinoic
Acide retinoique (French)
Acide retinoique (French) (DSL)
Acide retinoique (french) (dsl)
Acnavit
Acnavit [Denmark]
Airol
Aknefug
Aknoten
Alitretinoin
All Trans Retinoic Acid
All Trans-Retinoic Acid
All-(E)-Retinoate
All-(E)-Retinoic acid
All-trans Retinoic Acid
All-trans-Retinoate
All-trans-Retinoic acid
All-trans-Tretinoin
All-trans-Vitamin A acid
All-trans-Vitamin A1 acid
Alltrans-retinoic acid
Amnesteem
Atra-IV
Atragen
Atralin
Avita
Avita (TN)
Avita Gel
Avitoin
Avitoin [Norway]
BAL4079
BIDD:GT0483
BIDD:PXR0081
BML2-E05
BPBio1_000082
BRN 2057223
BSPBio_000074
BSPBio_001500
Betarretin
C00777
CCRIS 3294
CCRIS 7098
CHEBI:15367
CHEMBL38
CID444795
CPD000058245
Claravis
Cordes VAS [Germany]
Cordes vas
D00094
D014212
DB00523
DB00755
DB00982
Dermairol
EINECS 206-129-0
EU-0101061
Effederm
Effederm [France]
Epi-aberel
Eudyna
HMS1361K22
HMS1568D16
HMS1791K22
HMS1921D14
HMS1989K22
HMS2089D20
HMS2092N11
HMS502N05
HSDB 2169
HSDB 7186
I04-0008
I14-2351
IDI1_000903
IDI1_033970
Isotretinoin Retinoic acid
L000833
LGD 100057
LMPR01090019
LS-1154
Lopac0_001061
Lsotretinoin
MLS000028588
MLS001076515
MLS002207234
MLS002222211
MolPort-000-883-857
NCGC00017280-06
NCGC00017280-17
 
NCGC00021808-04
NCGC00021808-05
NCGC00021808-06
NCGC00021808-07
NCGC00021808-09
NCGC00021808-14
NCGC00021808-15
NSC 122758
NSC-122758
NSC122758
Nexret
Obagi
PDT-002-002
Panretin Gel
Panretyn
Potassium Salt, Tretinoin
Prestwick2_000257
Prestwick3_000257
Prestwick_424
R 2625
R0064
R2625_SIGMA
REA
RETINOIC ACID, ALL TRANS
RETINOIC acid
Refissa
Renova
Renova (TN)
Retacnyl
Retin A
Retin A (TN)
Retin-A
Retin-A Micro
Retin-a
Retin-a Micro
Retinoate
Retinoic acid
Retinoic acid, all-trans- (8CI)
Retinova
Retionic Acid
Retionic acid
Retisol-A
Retisol-a
Ro 1-5488
S1653_Selleck
SAM002264647
SMR000058245
SPECTRUM1502016
SR-01000000239
SR-01000000239-14
ST057075
Salt, Tretinoin Potassium
Salt, Tretinoin Sodium
Salt, Tretinoin Zinc
Sodium Salt, Tretinoin
Solage
Sotret
Spectrum5_001746
Spectrum5_001933
Stieva-A
Stieva-a
Stieva-a Forte
TRETINON
Tretin M
Tretin m
Tretin-x
Tretin.x
Tretinoin
Tretinoin (JAN/USP/INN)
Tretinoin (TN)
Tretinoin 0.1% cream or placebo
Tretinoin Cream
Tretinoin Gel Microsphere
Tretinoin Potassium Salt
Tretinoin Sodium Salt
Tretinoin Zinc Salt
Tretinoin [USAN:INN:BAN]
Tretinoin/All-Trans Retinoic Acid
Tretinoina
Tretinoina [INN-Spanish]
Tretinoine
Tretinoine (French)
Tretinoine (french) (einecs)
Tretinoine [INN-French]
Tretinoino
Tretinoino [INN-Spanish]
Tretinoinum
Tretinoinum [INN-Latin]
Tretinx
Tri-Luma
Trétinoïne
UNII-1UA8E65KDZ
UNII-5688UTC01R
UPCMLD-DP097
Vesanoid
Vesanoid (TN)
Vesanoid, Airol, Renova, Atralin, Retin-A, Avita, Tretinoin
Vesnaroid
Vitamin A acid
Vitinoin
WLN: L6UTJ A1 B1U1Y1 & U2U1Y1 & U1VQ C1 C1
WLN: L6UTJ A1 B1U1Y1&U2U1Y1&U1VQ C1 C1
Zinc Salt, Tretinoin
[3H]Retinoic acid
all trans-Retinoic acid
all-(E)-Retinoic acid
all-(e)-Retinoic acid
all-trans-Retinoic acid
all-trans-Tretinoin
all-trans-Vitamin A acid
all-trans-Vitamin A1 acid
all-trans-Vitamin a acid
all-trans-Vitamin a1 acid
all-trans-b-Retinoic acid
all-trans-beta-Retinoic acid
b-Retinoic acid
beta all trans Retinoic Acid
beta-Ra
beta-Retinoate
beta-Retinoic Acid
beta-Retinoic acid
beta-all-trans-Retinoic acid
bmse000562
nchembio.154-comp2
trans Retinoic Acid
trans-Retinoate
trans-Retinoic acid
tretinoin
tretinoin liposome
tretinoine (French) (EINECS)
13Insulin, Globin Zinc4069
14insulin4069

Interventional clinical trials:

(show all 24)
idNameStatusNCT IDPhase
1Body Composition in Infants With Klinefelter Syndrome and Effects of Testosterone TreatmentRecruitingNCT02408445Phase 4
2Androgen for Leydig Cell ProliferationCompletedNCT01206270Phase 2, Phase 3
3RA-2 13-cis Retinoic Acid (Isotretinoin)RecruitingNCT02061384Phase 2
4Androgen Effect on Klinefelter Syndrome Motor OutcomeActive, not recruitingNCT00348946Phase 2
5Elucidating Kisspeptin Physiology by Blocking Kisspeptin SignalingRecruitingNCT01438073Phase 1
6Neuropsychologic, Neuroradiologic, Endocrinologic, and Genetic Aspects of Klinefelter SyndromeCompletedNCT00999310
7Adaptation Among Adolescents and Adults With Klinefelter SyndromeCompletedNCT00896272
8Epigenetics and Metabolic Disorders in Men With the Klinefelter SyndromeCompletedNCT01703676
9Life Quality and Health in Patients With Klinefelter SyndromeCompletedNCT01690013
10Klinefelter Fertility PreservationCompletedNCT01817296
11Body Composition, Bone Mineral Density, Insulin Sensitivity and Echocardiographic Measurements in Klinefelter SyndromeCompletedNCT00523835
12Sperm Production in Kleinfelter Syndrome Patients After Mesenchymal Stem Cell InjectionCompletedNCT02414295
13Development and Decline of Brain and Cognition Through the Life SpanCompletedNCT00880451
14Study of Psychological and Motor Effects of Testosterone in Adolescents With XXY/Klinefelter SyndromeRecruitingNCT01585831
15Fertility Preservation in Cases of Klinefelter Syndrome.RecruitingNCT01918280
16Fertility Assessment in Patients With Klinefelter SyndromeRecruitingNCT02461303
17Subcapsular Orchiectomy in Men With Klinefelter SyndromeRecruitingNCT01750632
18The Clinical Study of Sex Chromosome VariantsRecruitingNCT01661010
19Non-Invasive Determination of Fetal Chromosome AbnormalitiesRecruitingNCT00891852
20Development of Non-invasive Prenatal Test for Microdeletion and Other Genetic Syndromes Based on Cell Free DNARecruitingNCT02109770
21X-chromosome Inactivation, Epigenetics and the TranscriptomeActive, not recruitingNCT01678261
22Thrombosis and Neurocognition in Klinefelter SyndromeNot yet recruitingNCT02526628
23Testicular Tissue Cryopreservation for Fertility Preservation in Male Patients Facing Infertility-causing Diseases or Treatment RegimensNot yet recruitingNCT02687880
24Adaptive Behavior Assessment of Men With 49, XXXXY, Klinefelter SyndromeWithdrawnNCT00347464

Search NIH Clinical Center for Klinefelter's Syndrome


Cochrane evidence based reviews: Klinefelter Syndrome

Genetic Tests for Klinefelter's Syndrome

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Genetic tests related to Klinefelter's Syndrome:

id Genetic test Affiliating Genes
1 Hypogonadotropic Hypogonadism22 24

Anatomical Context for Klinefelter's Syndrome

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MalaCards organs/tissues related to Klinefelter's Syndrome:

33
Breast, Testes, Bone, Testis, Pituitary, Brain, Prostate

Animal Models for Klinefelter's Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Klinefelter's Syndrome:

38 (show all 12)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053819.1AR, FGFR1, GNRH1, GNRHR, KISS1, KISS1R
2MP:00053679.0AR, FGFR1, GNRH1, GNRHR, KISS1, KISS1R
3MP:00028738.0AR, CYP19A1, FGFR1, GNRH1, GNRHR, KISS1R
4MP:00053708.0AR, CYP19A1, GNRH1, KISS1, KISS1R, MECP2
5MP:00053787.6AR, CYP19A1, FGFR1, GNRH1, GNRHR, KISS1
6MP:00107717.3AR, CYP19A1, FGFR1, GNRH1, GNRHR, KISS1
7MP:00053867.0AR, CYP19A1, FGFR1, INSL3, KISS1R, MECP2
8MP:00053876.9AR, CYP19A1, FGFR1, GNRH1, KISS1R, MECP2
9MP:00036316.8AR, CYP19A1, FGFR1, GNRH1, KISS1, KISS1R
10MP:00053766.8AMH, AR, CYP19A1, GNRH1, GNRHR, KISS1
11MP:00053795.9AMH, AR, CYP19A1, FGFR1, GNRH1, GNRHR
12MP:00053895.4AMH, AR, CYP19A1, GNRH1, GNRHR, INSL3

Publications for Klinefelter's Syndrome

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Articles related to Klinefelter's Syndrome:

(show top 50)    (show all 510)
idTitleAuthorsYear
1
Twin Pregnancy Obtention of Patient with Nonmosaic Klinefelter's Syndrome and His Wife with Chromosome 9 Inversion by ICSI Treatment. (24520478)
2013
2
Reproductive outcomes in patients with male infertility because of Klinefelter's syndrome, Kartagener's syndrome, round-head sperm, dysplasia fibrous sheath, and 'stump' tail sperm: an updated literature review. (23587797)
2013
3
Klinefelter's syndrome--a diagnosis mislaid for 46 years. (23207500)
2012
4
Klinefelter's syndrome in a 5-year-old boy with behavioral disturbances and seizures. (22054630)
2011
5
Novel genetic aspects of Klinefelter's syndrome. (20228051)
2010
6
Osteoporosis in Klinefelter's syndrome. (20348548)
2010
7
Klinefelter's syndrome and rheumatoid arthritis: report of a case and review of the literature. (20374390)
2010
8
Juvenile Systemic Lupus Erythematosus associated with Klinefelter's syndrome: A case report. (21794715)
2010
9
Metabolic syndrome in men with Klinefelter's syndrome. (18455766)
2008
10
Parkinson's syndrome in a young patient with Klinefelter's syndrome--a case report. (18265006)
2008
11
Successful treatment of a patient with Klinefelter's syndrome complicated by mediastinal germ cell tumor and AML(M7). (18223696)
2008
12
Headache in a patient with Klinefelter's syndrome and hyperostosis frontalis interna. (18071629)
2007
13
The metabolic syndrome is frequent in Klinefelter's syndrome and is associated with abdominal obesity and hypogonadism. (16801584)
2006
14
Evaluation of insulin sensitivity in patients with Klinefelter's syndrome: a hyperinsulinemic euglycemic clamp study. (16077165)
2005
15
Can Biological or Clinical Parameters Predict Testicular Sperm Recovery in 47,XXY Klinefelter's Syndrome Patients? (15758782)
2005
16
True hermaphroditism with characteristics of Klinefelter's syndrome: a rare presentation. (16042329)
2005
17
A 47,XXY fetus conceived after ICSI of spermatozoa from a patient with non-mosaic Klinefelter's syndrome: case report. (10920107)
2000
18
Extragonadal germ cell tumor of the prostate associated with Klinefelter's syndrome. (10226829)
1999
19
Births after intracytoplasmic injection of sperm obtained by testicular extraction from men with nonmosaic Klinefelter's syndrome. (9475766)
1998
20
Bipolar affective disorder associated with Klinefelter's syndrome--a case report. (9409088)
1997
21
A prolactin-secreting tumor in a patient with Klinefelter's syndrome: a case report. (8862506)
1996
22
Retroperitoneal teratoma as first sign of Klinefelter's syndrome. (7702385)
1995
23
Recurrent leg ulcerations as the initial clinical manifestation of Klinefelter's syndrome. (7857129)
1995
24
Increased prolactin secretion and thyrotrophin response to thyrotrophin releasing hormone in Klinefelter's syndrome. (7755189)
1995
25
Seminoma of the testis in a patient with 48,XXYY variant of Klinefelter's syndrome. (2052972)
1991
26
Anorexia nervosa associated with Klinefelter's syndrome. (1935020)
1991
27
Klinefelter's syndrome and primary central nervous system lymphoma. (2184340)
1990
28
Klinefelter's syndrome. (2897563)
1988
29
Variation studies of fingerprints in XXY Klinefelter's syndrome. (3583779)
1987
30
Platelet hyperaggregability in a patient with Klinefelter's syndrome and leg ulcers. (3651329)
1987
31
Klinefelter's syndrome and extragonadal germ cell tumors. (3038295)
1987
32
Primary myelodysplastic syndrome with complex chromosomal rearrangements in a patient with Klinefelter's syndrome. (3712399)
1986
33
Gonadotropin secretion dynamics in patients with Klinefelter's syndrome in relation to age. (3937217)
1985
34
Klinefelter's syndrome and mitral valve prolapse. an echocardiographic study in twenty-two patients. (6743777)
1984
35
Suprasellar germinoma in association with Klinefelter's syndrome. Case report. (6847901)
1983
36
Hypostatic ulcers in 47,XXY Klinefelter's syndrome. (6842542)
1983
37
Leydig's and sertoli cells. Their fine structures in three cases of Klinefelter's syndrome. (6896133)
1982
38
Klinefelter's syndrome associated with systemic sclerosis. (7145800)
1982
39
Subarachnoid hemorrhage and Klinefelter's syndrome. (6124775)
1982
40
Acute leukemia following a malignant teratoma in a child with Klinefelter's syndrome: case report and review of secondary leukemias in children following treatment of a primary neoplasm. (6178494)
1982
41
47,XXY Klinefelter's syndrome with low FSH and LH levels and absence of Leydig cells. (6778256)
1980
42
Testicular hypoplasia in a Hereford bull with 61,XXY karyotype: the bovine counterpart of human Klinefelter's syndrome. (7408494)
1980
43
Elevated testosterone-binding globulin in Klinefelter's syndrome. (6775001)
1980
44
Klinefelter's syndrome: sexual development and activity. (475580)
1979
45
Manic-depressive illness associated with Klinefelter's syndrome and essential tremors. (655296)
1978
46
Bone mass in men with Klinefelter's syndrome and in normal subjects, estimated by the cortical thickness of bone. (1149321)
1975
47
Lack of TRH-induced TSH secretion in a patient with Klinefelter's syndrome: a case report. (809259)
1975
48
The feedback effects of sex steroid hormones on pituitary gonadotropin release in Turner's syndrome and Klinefelter's syndrome. (50229)
1975
49
Chromatin-positive Klinefelter's syndrome with undetectable peripheral FSH levels. (1166860)
1975
50
X-Y chromosomal interchange in the aetiology of true hermaphroditism and of XX Klinefelter's syndrome. (4161595)
1966

Variations for Klinefelter's Syndrome

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Clinvar genetic disease variations for Klinefelter's Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1GNRHRNM_000406.2(GNRHR): c.842C> T (p.Thr281Ile)single nucleotide variantPathogenicrs515726220GRCh38Chr 4, 67740625: 67740625
2GNRHRNM_000406.2(GNRHR): c.94A> G (p.Thr32Ala)single nucleotide variantPathogenicrs515726219GRCh37Chr 4, 68619960: 68619960
3GNRHRNM_000406.2(GNRHR): c.392T> C (p.Met131Thr)single nucleotide variantPathogenicrs606231406GRCh37Chr 4, 68619662: 68619662
4GNRHRNM_000406.2(GNRHR): c.806C> T (p.Thr269Met)single nucleotide variantPathogenicrs369176613GRCh38Chr 4, 67740661: 67740661

Expression for genes affiliated with Klinefelter's Syndrome

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Search GEO for disease gene expression data for Klinefelter's Syndrome.

Pathways for genes affiliated with Klinefelter's Syndrome

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Pathways related to Klinefelter's Syndrome according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8GNRH1, GNRHR
29.5AR, GNRH1, SHBG
39.4AR, AZF1, MECP2

GO Terms for genes affiliated with Klinefelter's Syndrome

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Cellular components related to Klinefelter's Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular regionGO:00055767.2AMH, FGFR1, GNRH1, INSL3, KISS1, PRL

Biological processes related to Klinefelter's Syndrome according to GeneCards Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1prostate gland growthGO:006073610.5AR, CYP19A1
2positive regulation of MAPK cascadeGO:004341010.1AR, FGFR1, KISS1
3sex differentiationGO:00075489.6AMH, AR
4negative regulation of cell proliferationGO:00082859.1AR, GNRH1, INSL3, KISS1
5cell-cell signalingGO:00072679.0AMH, AR, GNRH1, INSL3
6positive regulation of cell proliferationGO:00082848.9AR, FGFR1, INSL3, MECP2
7regulation of gene expressionGO:00104688.7AR, FGFR1, GNRH1, MECP2

Molecular functions related to Klinefelter's Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1androgen bindingGO:000549710.2AR, SHBG
2hormone activityGO:00051798.1AMH, GNRH1, INSL3, PRL

Sources for Klinefelter's 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