MCID: KLN001
MIFTS: 52

Klinefelter's Syndrome malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Klinefelter's Syndrome

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Aliases & Descriptions for Klinefelter's Syndrome:

Name: Klinefelter's Syndrome 11 46 24 13 36
Klinefelter Syndrome 11 69 46 24 37 66
Xxy Trisomy 11 46 24 66
Hypogonadotropic Hypogonadism 11 23 66
Xxy Syndrome 11 46 24
 
Klinefelters Syndrome 48
47, Xxy 46
47 Xxy 46
47,xxy 69

Classifications:



External Ids:

Disease Ontology11 DOID:1921
ICD1028 Q98.0, Q98.4
ICD9CM30 758.7
MeSH37 D007713
NCIt43 C34752

Summaries for Klinefelter's Syndrome

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MedlinePlus:36 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

MalaCards based summary: Klinefelter's Syndrome, also known as klinefelter syndrome, is related to gender identity disorder and hypogonadism, and has symptoms including decreased fertility, disproportionate tall stature and neurological speech impairment. An important gene associated with Klinefelter's Syndrome is INSL3 (Insulin Like 3), and among its related pathways are Nongenotropic Androgen signaling and FSH signaling pathway. Affiliated tissues include breast, testes and bone, and related mouse phenotypes are endocrine/exocrine gland and reproductive system.

Genetics Home Reference:24 Klinefelter syndrome is a chromosomal condition that affects male physical and cognitive development. Its signs and symptoms vary among affected individuals.

NIH Rare Diseases:46 Klinefelter syndrome (ks) is a condition that occurs in males when they have an extra x chromosome. some males with ks have no obvious signs or symptoms while others may have varying degrees of cognitive, social, behavioral, and learning difficulties. adults with klinefelter syndrome may also experience primary hypogonadism (decreased testosterone production), small testes, enlarged breast tissue (gynecomastia), tall stature, and/or infertility. ks is not inherited, but usually occurs as a random event during the formation of reproductive cells (eggs and sperm). treatment is based on the signs and symptoms present in each person. last updated: 10/13/2015

Wikipedia:69 Klinefelter syndrome (KS) also known as 47,XXY or XXY, is the set of symptoms that result from two or... 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 196)
idRelated DiseaseScoreTop Affiliating Genes
1gender identity disorder29.8AMH, PRL, SHBG
2hypogonadism25.0AMH, AR, CYP19A1, DAZ4, FSHB, INSL3
3cerebellar ataxia and hypogonadotropic hypogonadism12.4
4hypogonadotropic hypogonadism 7 without anosmia12.3
5hypogonadotropic hypogonadism 1 with or without anosmia12.3
6hypogonadotropic hypogonadism 13 with or without anosmia12.3
7hypogonadotropic hypogonadism 15 with or without anosmia12.3
8hypogonadotropic hypogonadism 11 with or without anosmia12.3
9hypogonadotropic hypogonadism 16 with or without anosmia12.3
10hypogonadotropic hypogonadism with or without anosmia12.3
11hypogonadotropic hypogonadism 12 with or without anosmia12.3
12hypogonadotropic hypogonadism 9 with or without anosmia12.3
13hypogonadotropic hypogonadism 10 with or without anosmia12.3
14hypogonadotropic hypogonadism 8 with or without anosmia12.3
15hypogonadotropic hypogonadism 23 with or without anosmia12.2
16leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism12.2
17leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism12.2
18hypogonadotropic hypogonadism 2 with or without anosmia12.2
19hypogonadotropic hypogonadism 4 with or without anosmia12.2
20hypogonadotropic hypogonadism 18 with or without anosmia12.2
21hypogonadotropic hypogonadism 20 with or without anosmia12.2
22hypogonadotropic hypogonadism 6 with or without anosmia12.2
23hypogonadotropic hypogonadism 14 with or without anosmia12.2
24hypogonadotropic hypogonadism 3 with or without anosmia12.2
25hypogonadotropic hypogonadism 5 with or without anosmia12.2
26hypogonadotropic hypogonadism 17 with or without anosmia12.2
27hypogonadotropic hypogonadism 19 with or without anosmia12.2
28hypogonadotropic hypogonadism 21 with anosmia12.2
29normosmic congenital hypogonadotropic hypogonadism12.2
30hypogonadotropic hypogonadism 24 without anosmia12.2
31adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism12.2
32hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome12.0
33multicore myopathy with mental retardation, short stature, and hypogonadotropic hypogonadism12.0
34hypogonadotropic hypogonadism without anosmia, x-linked12.0
35hypogonadotropic hypogonadism-frontoparietal alopecia syndrome12.0
36hypogonadotropic hypogonadism-retinitis pigmentosa syndrome12.0
37moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome12.0
38kallmann syndrome12.0
39hypogonadotropism11.7
40boucher-neuhauser syndrome11.5
41pol iii-related leukodystrophies11.4
42isolated gonadotropin-releasing hormone deficiency11.3
4348,xxyy syndrome11.3
44hs6st1-related isolated gonadotropin-releasing hormone deficiency11.1
45kiss1-related isolated gonadotropin-releasing hormone deficiency11.1
46nsmf-related isolated gonadotropin-releasing hormone deficiency11.1
47prok2-related isolated gonadotropin-releasing hormone deficiency11.1
48sema3a-related isolated gonadotropin-releasing hormone deficiency11.1
49tac3-related isolated gonadotropin-releasing hormone deficiency11.1
50wdr11-related isolated gonadotropin-releasing hormone deficiency11.1

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

UMLS symptoms related to Klinefelter's Syndrome:


pituitary enlargement

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 11)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
MethyltestosteronePhase 4, Phase 2, Phase 352458-18-46010
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
2Testosterone undecanoatePhase 4, Phase 2, Phase 3524
3
Testosterone enanthatePhase 4, Phase 2, Phase 3524315-37-79416
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
4
TestosteronePhase 4, Phase 2, Phase 352458-22-06013
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
5
TretinoinPhase 2218302-79-45538
Synonyms:
(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-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 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) (DSL)
Acide retinoique (french) (dsl)
Acnavit
Acnavit [Denmark]
Airol
Aknefug
Aknoten
Alitretinoin
All Trans Retinoic Acid
All Trans-Retinoic Acid
All-trans Retinoic Acid
Alltrans-retinoic acid
Amnesteem
Atra-IV
Atragen
Atralin
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
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
Renova
Renova (TN)
Retacnyl
Retin A
Retin A (TN)
Retin-A
Retin-A Micro
Retin-a
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
Tretinoin
Tretinoin (JAN/USP/INN)
Tretinoin (TN)
Tretinoin 0.1% cream or placebo
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) (einecs)
Tretinoine [INN-French]
Tretinoino
Tretinoino [INN-Spanish]
Tretinoinum
Tretinoinum [INN-Latin]
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-Retinoic Acid
beta-Retinoic acid
beta-all-trans-Retinoic acid
bmse000562
nchembio.154-comp2
trans Retinoic Acid
trans-Retinoic acid
tretinoin
tretinoin liposome
tretinoine (French) (EINECS)
6
IsotretinoinPhase 21174759-48-25538, 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
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
D00348
D015474
EINECS 225-296-0
EU-0101081
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
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
cis-RA
cis-Retinoate
cis-Retinoic acid
isotretinoino
7
OxandrolonePhase 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
8vitamin dPhase 21607
9
CalcitriolPhase 219432222-06-3134070, 5280453
Synonyms:
(1R,3S)-5-{2-[(1R,3aS,7aR)-1-((R)-5-Hydroxy-1,5-dimethyl-hexyl)-7a-methyl-octahydro-inden-4-ylidene]-ethylidene}-4-methylene-cyclohexane-1,3-diol
(1R,3S,5Z)-5-[(2E)-2-[(1R,3aS,7aR)-1-[(2R)-6-hydroxy-6-methylheptan-2-yl]-7a-methyl-2,3,3a,5,6,7-hexahydro-1H-inden-4-ylidene]ethylidene]-4-methylidenecyclohexane-1,3-diol
(1S,3R,5Z,7E)-9,10-secocholesta-5,7,10(19)-triene-1,3,25-triol
(1S,3R,5Z,7E)-9,10-secocholesta-5,7,10-triene-1,3,25-triol
(1S,3R,5Z,7e)-9,10-Secocholesta-5,7,10-triene-1,3,25-triol
(1alpha,3beta,5Z,7E)-9,10-secocholesta-5,7,10(19)-triene-1,3,25-triol
(1alpha,3beta,5Z,7e)-9,10-Secocholesta-5,7,10(19)-triene-1,3,25-triol
(3b,5Z,7E)-9,10-Secocholesta-5,7,10(19)-trienetriol
(5Z,7E)-(1S,3R)-9,10-secocholesta-5,7,10(19)-triene-1,3,25-triol
(5Z,7E)-9,10-Secocholesta-5,7,10(19)-triene-1-alpha,3-beta,25-triol
(5Z,7E)-9,10-Secocholesta-5,7,10(19)-triene-1alpha,3beta,25-triol
(5Z,7e)-(1S,3R)-9,10-Secocholesta-5,7,10(19)-triene-1,3,25-triol
1 alpha,25-Dihydroxyvitamin D3
1,25 (OH)2 D3
1,25 Dihydroxycholecalciferol
1,25(OH)2-20epi-D3
1,25(OH)2D3 & CD4
1,25(OH2)D3
1,25-(OH)2-D3
1,25-(OH)2D3
1,25-DHCC
1,25-DIHYDROXYCHOLECALCIFEROL
1,25-Dihydroxycholecalciferol
1,25-Dihydroxycholecaliferol
1,25-Dihydroxyvitamin D
1,25-Dihydroxyvitamin D3
1,25-dihydroxy vitamin D3
1,25-dihydroxy-20-epi-Vitamin D3
1,25-dihydroxycholecalciferol
1,25D3
1-alpha,-1,25-Dihydroxyvitamin D3
1-alpha,25-Dihydroxycholecalciferol
1-alpha,25-Dihydroxyvitamin D3
1-alpha-25-Dihydroxyvitamin D3
1-alpha-25-dihydroxyvitamin D3
1.Alpha.,25-Dihydroxy-26,27-hexadeuterovitamin D3
17936_FLUKA
17936_SIGMA
1a,25-(OH)2D3
1a,25-Dihydroxycholecalciferol
1a,25-Dihydroxyvitamin D3
1alpha,25(OH)2-D3
1alpha,25(OH)2D3
1alpha,25-Dihydroxycholecalciferol
1alpha,25-Dihydroxyvitamin D
1alpha,25-Dihydroxyvitamin D3
1db1
1α,25(OH)2D3
1α,25-dihydroxycholecalciferol
1α,25-dihydroxyvitamin D3
20-epi-1alpha,25-dihydroxycholecaliferol
25-Dihydroxycholecalciferol
32222-06-3
5-{2-[1-(5-hydroxy-1,5-dimethyl-hexyl)-7a-methyl-octahydro-inden-4-ylidene]-ethylidene}-4-methylene-cyclohexane-1,3-diol
9,10-Seco(5Z,7E)-5,7,10(19)-cholestatriene-1alpha,3beta,25-triol
9,10-Secocholesta-5,7,10(19)-triene-1,3,25-triol, (1.alpha.,3.beta,.5Z,7E)- & CD4
9,10-seco(5Z,7E)-5,7,10(19)-cholestatriene-1alpha, 3beta, 25-triol
AC-1859
AC1NQX1S
 
Ambap32222-06-3
Asentar
BCBcMAP01_000160
BML2-E03
BSPBio_001287
C01673
CCRIS 5522
CD-2027
CHEBI:17823
CHEMBL846
CID5280453
CPD000466393
Calcijex
Calcijex, Silkis, Rocaltrol, Topitriol, Cholecalciferol,Calcitriol
Calcitriol
Calcitriol (JAN/USAN/INN)
Calcitriol [USAN:INN:BAN:JAN]
Calcitriolum
Calcitriolum [INN-Latin]
D00129
D1530_SIGMA
DN 101
DN-101
Decostriol
Dihydroxyvitamin D3
EINECS 250-963-8
HMS1361A09
HMS1791A09
HMS1989A09
HMS2051F06
HMS2089N03
HSDB 3482
IDI1_033757
LMST03020258
LS-53093
MC-1288
MC1288
MLS000759536
MLS001424122
MolPort-002-045-698
NCGC00161327-01
NCGC00161327-04
Ro 21-5535
Ro 215535
Ro-21-5535
Rocaltrol
Rocaltrol (TN)
S1466_Selleck
SAM001246772
SMR000466393
Silkis
Soltriol
Spectrum5_002061
Topitriol
Toptriol
U 49562
Vectical
ZINC03924790
calcitriol
vit D
10
Vitamin CNutraceuticalPhase 248850-81-75785, 54670067
Synonyms:
(+)-Sodium L-ascorbate
(+)-ascorbate
(+)-ascorbic acid
(2R)-2-[(1S)-1,2-Dihydroxyethyl]-4,5-dihydroxy-furan-3-one
(2R)-2-[(1S)-1,2-dihydroxyethyl]-4,5-dihydroxyfuran-3-one
(5R)-5-[(1S)-1,2-dihydroxyethyl]-3,4-dihydroxyfuran-2(5H)-one
129940-97-2
134-03-2 (monosodium salt)
14536-17-5
154170-90-8
2-(1,2-Dihydroxyethyl)-4,5-dihydroxyfuran-3-one
255564_SIAL
259133-78-3
3-Keto-L-gulofuranolactone
3-Oxo-L-gulofuranolactone
3-Oxo-L-gulofuranolactone (enol form)
30208-61-8
33034_RIEDEL
33034_SIAL
47863_SUPELCO
47A605F0-4187-47A8-B0CE-F9E7DA1B0076
50-81-7
50976-75-5
56172-55-5
56533-05-2
57304-74-2
57606-40-3
623158-95-2
6730-29-6
882690-91-7
884381-69-5
885512-24-3
88845-26-5
89924-69-6
95209_FLUKA
95209_SIGMA
95210_FLUKA
95210_SIAL
95212_FLUKA
A0278_SIGMA
A0537
A2174_SIGMA
A2218_SIGMA
A2343_SIGMA
A4403_SIGMA
A4544_SIGMA
A5960_SIGMA
A7506_SIGMA
A92902_ALDRICH
A92902_SIAL
AA
AB00376923
AB1002440
AC1L1L4T
AC1Q77S6
AR-1J3435
Acid Ascorbic
Acide ascorbique
Acide ascorbique [INN-French]
Acido ascorbico
Acido ascorbico [INN-Spanish]
Acidum ascorbicum
Acidum ascorbicum [INN-Latin]
Acidum ascorbinicum
Adenex
Allercorb
Ambap36431-82-0
Antiscorbic Vitamin
Antiscorbic vitamin
Antiscorbutic Vitamin
Antiscorbutic factor
Antiscorbutic vitamin
Arco-Cee
Arco-cee
Ascoltin
Ascoltin (TN)
Ascor-B.I.D.
Ascorb
Ascorbajen
Ascorbate
Ascorbic Acid
Ascorbic Acid, Monosodium Salt
Ascorbic acid
Ascorbic acid (JP15/USP/INN)
Ascorbic acid [BAN:INN:JAN]
Ascorbic acid [INN:BAN:JAN]
Ascorbicab
Ascorbicap
Ascorbicap (TN)
Ascorbicin
Ascorbin
Ascorbinsaeure
Ascorbinsäure
Ascorbutina
Ascorbyl radical
Ascorin
Ascorteal
Ascorvit
BPBio1_000363
BSPBio_000329
C-Level
C-Long
C-Quin
C-Span
C-Vimin
C00072
C6H8O6
CCRIS 57
CE-VI-Sol
CHEBI:29073
CHEMBL196
CID5785
Cantan
Cantaxin
Caswell No. 061B
Catavin C
Ce Lent
Ce lent
Ce-Mi-Lin
Ce-mi-lin
Ce-vi-sol
Cebicure
Cebid
Cebion
Cebione
Cecon
Cee-Caps TD
Cee-Caps Td
Cee-Vite
Cee-caps TD
Cee-vite
Cegiolan
Ceglion
Ceklin
Celaskon
Celin
Cell C
Cemagyl
Cemill
Cenetone
Cenolate
Cereon
Cergona
Cescorbat
Cetamid
Cetane
Cetane-Caps TC
Cetane-Caps TD
Cetane-Caps Tc
Cetane-Caps Td
Cetane-caps TC
Cetane-caps TD
Cetebe
 
Cetemican
Cevalin
Cevatine
Cevex
Cevi-Bid
Cevi-bid
Cevimin
Cevital
Cevitamate
Cevitamic Acid
Cevitamic acid
Cevitamin
Cevitan
Cevitex
Cewin
Chewcee
Ciamin
Cipca
Citriscorb
Citrovit
Colascor
Concemin
Cortalex
D00018
DB00126
Davitamon C
Dora-C-500
Duoscorb
EINECS 200-066-2
FEMA No. 2109
Ferancee
Ferrous ascorbate
HSDB 818
HiCee
Hicee
Hybrin
IDO-C
Ido-C
Iron(II) ascorbate
Iron-ascorbic acid complexes
Juvamine
Kangbingfeng
Kyselina Askorbova
Kyselina askorbova
Kyselina askorbova [Czech]
L(+)-Ascorbate
L(+)-Ascorbic acid
L-(+)-Ascorbate
L-(+)-Ascorbic Acid
L-(+)-Ascorbic acid
L-(+)-ascorbic acid
L-3-Ketothreohexuronic acid lactone
L-3-ketothreohexuronic acid
L-Ascorbate
L-Ascorbic Acid
L-Ascorbic acid
L-Ascorbic acid, free radical form
L-Lyxoascorbate
L-Lyxoascorbic Acid
L-Lyxoascorbic acid
L-Threo-ascorbic acid
L-Threoascorbic acid
L-Xyloascorbate
L-Xyloascorbic Acid
L-Xyloascorbic acid
L-ascorbate
L-threo-Hex-2-enonic acid, gamma-lactone
L-threo-ascorbic acid
L-threo-hex-2-enono-1,4-lactone
LS-145
Laroscorbine
Lemascorb
Liqui-Cee
Liqui-cee
MLS002153776
Magnesium Ascorbicum
Magnorbin
Meri-C
Meri-c
MolPort-001-792-501
Monodehydroascorbic acid
NCGC00091517-01
NCGC00091517-02
NCGC00164357-01
NCI-C54808
NSC 33832
Natrascorb
Natrascorb injectable
Oral Vitamin C
Planavit C
Prestwick3_000325
Proscorbin
Redoxon
Ribena
Ronotec 100
Rontex 100
Roscorbic
Rovimix C
SMR001233160
Scorbacid
Scorbu C
Scorbu-C
Secorbate
Semidehydroascorbate
Sodascorbate
Sodium Ascorbate (Ascorbic Acid)
Stuartinic
Suncoat VC 40
Sunkist
Testascorbic
Tolfrinic
UNII-PQ6CK8PD0R
VASC
Vicelat
Vicin
Vicomin C
Viforcit
Viscorin
Viscorin 100M
Vitace
Vitacee
Vitacimin
Vitacin
Vitamin C
Vitamin- C
Vitamin-?C
Vitamisin
Vitascorbol
W210901_ALDRICH
Xitix
acide ascorbique
acidum ascorbicum
acidum ascorbinicum
antiscorbic vita min
ascor-b.i.d
ascorbate
ascorbic acid
bmse000182
cee-caps td
cevibid
component of Cortalex
component of E and C-Level
component of Endoglobin Forte
component of Ferancee
gamma-Lactone L-threo-Hex-2-enonate
gamma-Lactone L-threo-Hex-2-enonic acid
l-ascorbic acid
l-threo-hex-1-eofuranos-3-ulose
nchembio.174-comp5
nchembio.89-comp1
nchembio.92-comp2
nchembio821-comp9
roscorbi c
vitamin C
ácido ascórbico
11insulin4401

Interventional clinical trials:

(show all 28)
idNameStatusNCT IDPhase
1Body Composition in Infants With Klinefelter Syndrome and Effects of Testosterone TreatmentRecruitingNCT02408445Phase 4
2Androgen for Leydig Cell ProliferationCompletedNCT01206270Phase 2, Phase 3
3Androgen Effect on Klinefelter Syndrome Motor OutcomeActive, not recruitingNCT00348946Phase 2
4RA-2 13-cis Retinoic Acid (Isotretinoin)Active, not recruitingNCT02061384Phase 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
11Human Chorionic Gonadotropin Stimulation Effects on Steroidogenesis in Men With Klinefelter SyndromeCompletedNCT02788136
12Body Composition, Bone Mineral Density, Insulin Sensitivity and Echocardiographic Measurements in Klinefelter SyndromeCompletedNCT00523835
13Subcapsular Orchiectomy in Men With Klinefelter SyndromeCompletedNCT01750632
14X-chromosome Inactivation, Epigenetics and the TranscriptomeCompletedNCT01678261
15Sperm Production in Kleinfelter Syndrome Patients After Mesenchymal Stem Cell InjectionCompletedNCT02414295
16Development and Decline of Brain and Cognition Through the Life SpanCompletedNCT00880451
17Study of Psychological and Motor Effects of Testosterone in Adolescents With XXY/Klinefelter SyndromeRecruitingNCT01585831
18Fertility Preservation in Cases of Klinefelter Syndrome.RecruitingNCT01918280
19Fertility Assessment in Patients With Klinefelter SyndromeRecruitingNCT02461303
20Thrombosis and Neurocognition in Klinefelter SyndromeRecruitingNCT02526628
21The Clinical Study of Sex Chromosome VariantsRecruitingNCT01661010
22Expanded Noninvasive Genomic Medical Assessment: The Enigma StudyRecruitingNCT02787486
23Non-Invasive Determination of Fetal Chromosome AbnormalitiesRecruitingNCT00891852
24Whole Blood Specimen Collection From Pregnant SubjectsRecruitingNCT02430584
25Development of Non-invasive Prenatal Test for Microdeletion and Other Genetic Syndromes Based on Cell Free DNARecruitingNCT02109770
26Cardiometabolic Profiles of Boys With Klinefelter SyndromeNot yet recruitingNCT02723305
27Testicular Tissue Cryopreservation for Fertility Preservation in Male Patients Facing Infertility-causing Diseases or Treatment RegimensNot yet recruitingNCT02687880
28Adaptive 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

About this section

Genetic tests related to Klinefelter's Syndrome:

id Genetic test Affiliating Genes
1 Hypogonadotropic Hypogonadism23

Anatomical Context for Klinefelter's Syndrome

About this section

MalaCards organs/tissues related to Klinefelter's Syndrome:

34
Breast, Testes, Bone, Pituitary, Testis, Brain, Whole blood

Animal Models for Klinefelter's Syndrome or affiliated genes

About this section

MGI Mouse Phenotypes related to Klinefelter's Syndrome:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053798.1AMH, AR, CYP19A1, FSHB, INSL3, MECP2
2MP:00053898.0AMH, AR, CYP19A1, FSHB, INSL3, MECP2

Publications for Klinefelter's Syndrome

About this section

Articles related to Klinefelter's Syndrome:

(show top 50)    (show all 518)
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
A case of Klinefelter's syndrome with type 1 diabetes mellitus. (22490600)
2012
5
Clinical Presentation of Klinefelter's Syndrome: Differences According to Age. (22291701)
2012
6
Novel genetic aspects of Klinefelter's syndrome. (20228051)
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
Recurrent deep vein thrombosis and pulmonary embolism in a young man with Klinefelter's syndrome and heterozygous mutation of MTHFR-677C>T and 1298A>C. (20449891)
2010
10
Animal models for Klinefelter's syndrome and their relevance for the clinic. (20308053)
2010
11
Klinefelter's syndrome and psychoneurologic function. (20197378)
2010
12
Metabolic syndrome in men with Klinefelter's syndrome. (18455766)
2008
13
Dysregulation of X-linked gene expression in Klinefelter's syndrome and association with verbal cognition. (17347996)
2007
14
Genetic abnormalities and CNS tumors: report of two cases of ependymoma associated with Klinefelter's Syndrome (KS). (17058088)
2007
15
The metabolic syndrome is frequent in Klinefelter's syndrome and is associated with abdominal obesity and hypogonadism. (16801584)
2006
16
The structural brain correlates of cognitive deficits in adults with Klinefelter's syndrome. (16403821)
2006
17
Evaluation of insulin sensitivity in patients with Klinefelter's syndrome: a hyperinsulinemic euglycemic clamp study. (16077165)
2005
18
Graves' disease associated with Klinefelter's syndrome. (15119010)
2004
19
Klinefelter's syndrome in the male infertility clinic. (10647705)
2000
20
Endodontic treatment in taurodontism with Klinefelter's syndrome: A case report. (10556758)
1999
21
Analysis of meiosis in intratesticular germ cells from subjects affected by classic Klinefelter's syndrome. (10523034)
1999
22
Rare combination of Becker muscular dystrophy and Klinefelter's syndrome in one patient. (9253490)
1997
23
Increased prolactin secretion and thyrotrophin response to thyrotrophin releasing hormone in Klinefelter's syndrome. (7755189)
1995
24
Increased plasma activity of plasminogen activator inhibitor 1 (PAI-1) in two patients with Klinefelter's syndrome complicated by leg ulcers. (8204473)
1994
25
T cell abnormalities in mixed connective tissue disease complicated with Klinefelter's syndrome. (7849389)
1994
26
Lupus anticoagulant and Klinefelter's syndrome. (8336331)
1993
27
Klinefelter's syndrome associated with unilateral cryptorchidism and chordee without hypospadia. (1357810)
1992
28
Seminoma of the testis in a patient with 48,XXYY variant of Klinefelter's syndrome. (2052972)
1991
29
Anorexia nervosa associated with Klinefelter's syndrome. (1935020)
1991
30
Increased maternal serum human chorionic gonadotropin level associated with Klinefelter's syndrome. (1725213)
1991
31
Klinefelter's syndrome and primary central nervous system lymphoma. (2184340)
1990
32
Klinefelter's syndrome. (2897563)
1988
33
Platelet hyperaggregability in a patient with Klinefelter's syndrome and leg ulcers. (3651329)
1987
34
Klinefelter's syndrome and extragonadal germ cell tumors. (3038295)
1987
35
Klinefelter's syndrome in Kenyan patients. (6704614)
1984
36
Vascular abnormality in Klinefelter's syndrome? (6125655)
1982
37
Serum testosterone of boys with karyotype 47,XXY (Klinefelter's syndrome) at birth. (6118559)
1981
38
Venous thromboembolic disease in Klinefelter's syndrome. (7273469)
1981
39
Urinary total hydroxyproline excretion in patients with Turner's syndrome and Klinefelter's syndrome. (7274994)
1981
40
Klinefelter's syndrome : hypogonadism, abnormal carbohydrate metabolism. It it a result of biotin deficiency ? (7289915)
1981
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
Systemic lupus erythematosus and Klinefelter's syndrome. (921838)
1977
47
Systemic lupus erythematosus associated with klinefelter's syndrome. (300022)
1977
48
Radiological features of the skull in Klinefelter's syndrome and male hypogonadism. (1201634)
1975
49
Letter: Klinefelter's syndrome and maternal XX/XXX mosaicism. (1121018)
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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Copy number variations for Klinefelter's Syndrome from CNVD:

6 (show all 23)
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1132541195931064859326954MicrodeletionPRPF31Klinefelter syndrome
22667410157772954DeletionazoospermiaKlinefelter syndrome
32667420157772954DeletionfactorKlinefelter syndrome
42667470157772954MicrodeletionAZFcKlinefelter syndrome
526679701130000027200000MicrodeletioBPY2Klinefelter syndrome
626679901130000027200000MicrodeletioCDY1Klinefelter syndrome
726680101130000027200000MicrodeletioCDY2Klinefelter syndrome
826680301130000027200000MicrodeletioCSPG4LYKlinefelter syndrome
926680501130000027200000MicrodeletioDAZKlinefelter syndrome
1026680701130000027200000MicrodeletioEIF1AYKlinefelter syndrome
1126680901130000027200000MicrodeletioGOLGA2LYKlinefelter syndrome
1226681101130000027200000MicrodeletioHSFYKlinefelter syndrome
1326681301130000027200000MicrodeletioPRYKlinefelter syndrome
1426681501130000027200000MicrodeletioRBMYL1Klinefelter syndrome
1526681701130000027200000MicrodeletioRPS4YSKlinefelter syndrome
1626681901130000027200000MicrodeletioSMCYKlinefelter syndrome
1726682101130000027200000MicrodeletioXKRYKlinefelter syndrome
1826685501130000057772954MicrodeletionAZFKlinefelter syndrome
1926685601130000057772954MicrodeletionAZFaKlinefelter syndrome
2026685901130000057772954MicrodeletionAZFcKlinefelter syndrome
2126686601130000057772954MicrodeletionbKlinefelter syndrome
2226692101332255313482162MicrodeletionDFFRYKlinefelter syndrome
2326698801839025318758303MicrodeletionXKRYKlinefelter syndrome

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 pathwaysScoreTop Affiliating Genes
110.0AR, SHBG
29.7CYP19A1, FSHB

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:00055767.7AMH, FSHB, INSL3, KLK3, PRL, SERPINE1

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

idNameGO IDScoreTop Affiliating Genes
1prostate gland growthGO:006073610.3AR, CYP19A1
2sex differentiationGO:000754810.0AMH, AR
3positive regulation of cell proliferationGO:00082849.0AR, FSHB, INSL3, MECP2
4spermatogenesisGO:00072838.8AR, DAZ4, INSL3, USP9Y

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

idNameGO IDScoreTop Affiliating Genes
1androgen bindingGO:000549710.5AR, SHBG
2steroid bindingGO:000549610.1AR, SHBG
3hormone activityGO:00051799.7AMH, FSHB, INSL3, PRL
4receptor bindingGO:00051028.9AMH, AR, INSL3, SERPINE1

Sources for Klinefelter's 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