MCID: KLN001
MIFTS: 50

Klinefelter's Syndrome malady

Categories: Rare diseases, Genetic diseases

Aliases & Classifications for Klinefelter's Syndrome

Aliases & Descriptions for Klinefelter's Syndrome:

Name: Klinefelter's Syndrome 12 50 25 41 14
Klinefelter Syndrome 12 71 50 25 42 69
Xxy Trisomy 12 50 25 69
Hypogonadotropic Hypogonadism 12 24 69
Xxy Syndrome 12 50 25
Klinefelters Syndrome 52
47, Xxy 50
47,xxy 71
47 Xxy 50

Classifications:



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Disease Ontology 12 DOID:1921
ICD10 33 Q98.0 Q98.4
ICD9CM 35 758.7
MeSH 42 D007713
NCIt 47 C34752
UMLS 69 C0022735

Summaries for Klinefelter's Syndrome

NIH Rare Diseases : 50 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 polyneuropathy and hypogonadotropic hypogonadism 7 without anosmia. An important gene associated with Klinefelter's Syndrome is DAZ4 (Deleted In Azoospermia 4), and among its related pathways/superpathways are Follicle Stimulating Hormone (FSH) signaling pathway and Nongenotropic Androgen signaling. The drugs Testosterone and Methyltestosterone have been mentioned in the context of this disorder. Affiliated tissues include breast, testes and bone, and related phenotypes are endocrine/exocrine gland and integument

Genetics Home Reference : 25 Klinefelter syndrome is a chromosomal condition that affects male physical and cognitive development. Its signs and symptoms vary among affected individuals.

MedlinePlus : 41 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 : 71 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

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

(show top 50) (show all 211)
id Related Disease Score Top Affiliating Genes
1 polyneuropathy 29.8 CYP19A1 SHBG
2 hypogonadotropic hypogonadism 7 without anosmia 12.4
3 hypogonadotropic hypogonadism 2 with or without anosmia 12.4
4 hypogonadotropic hypogonadism 13 with or without anosmia 12.4
5 hypogonadotropic hypogonadism 16 with or without anosmia 12.4
6 hypogonadotropic hypogonadism 10 with or without anosmia 12.4
7 hypogonadotropic hypogonadism 15 with or without anosmia 12.4
8 hypogonadotropic hypogonadism with or without anosmia 12.4
9 hypogonadotropic hypogonadism 12 with or without anosmia 12.4
10 hypogonadotropic hypogonadism 11 with or without anosmia 12.4
11 hypogonadotropic hypogonadism 1 with or without anosmia 12.4
12 hypogonadotropic hypogonadism 18 with or without anosmia 12.3
13 hypogonadotropic hypogonadism 20 with or without anosmia 12.3
14 hypogonadotropic hypogonadism 8 with or without anosmia 12.3
15 hypogonadotropic hypogonadism 9 with or without anosmia 12.3
16 hypogonadotropic hypogonadism 14 with or without anosmia 12.3
17 hypogonadotropic hypogonadism 19 with or without anosmia 12.3
18 hypogonadotropic hypogonadism 4 with or without anosmia 12.3
19 hypogonadotropic hypogonadism 6 with or without anosmia 12.3
20 hypogonadotropic hypogonadism 3 with or without anosmia 12.3
21 hypogonadotropic hypogonadism 17 with or without anosmia 12.3
22 hypogonadotropic hypogonadism 21 with anosmia 12.3
23 cerebellar ataxia and hypogonadotropic hypogonadism 12.3
24 leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism 12.3
25 hypogonadotropic hypogonadism 5 with or without anosmia 12.3
26 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism 12.3
27 hypogonadotropic hypogonadism 23 with or without anosmia 12.3
28 hypogonadotropic hypogonadism 24 without anosmia 12.2
29 adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism 12.2
30 normosmic congenital hypogonadotropic hypogonadism 12.1
31 kallmann syndrome 12.0
32 hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome 11.9
33 hypogonadotropic hypogonadism-frontoparietal alopecia syndrome 11.9
34 hypogonadotropic hypogonadism-retinitis pigmentosa syndrome 11.9
35 moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome 11.9
36 hypogonadotropic hypogonadism without anosmia, x-linked 11.9
37 multicore myopathy with mental retardation, short stature, and hypogonadotropic hypogonadism 11.9
38 boucher-neuhauser syndrome 11.7
39 arhinia, choanal atresia, and microphthalmia 11.6
40 48,xxyy syndrome 11.4
41 hemochromatosis 11.4
42 48,xxxy syndrome 11.3
43 49,xxxxy syndrome 11.3
44 x-linked adrenal hypoplasia congenita 11.3
45 pol iii-related leukodystrophies 11.3
46 isolated gonadotropin-releasing hormone deficiency 11.2
47 ataxia - hypogonadism - choroidal dystrophy 11.2
48 hypogonadotropism 11.1
49 hypogonadism 11.1
50 numeric sex chromosome variations 11.1

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



Diseases related to Klinefelter's Syndrome

Symptoms & Phenotypes for Klinefelter's Syndrome

MGI Mouse Phenotypes related to Klinefelter's Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.96 AMH AR CYP19A1 FSHB GNRH1 GNRHR
2 integument MP:0010771 9.7 AR CYP19A1 GNRH1 GNRHR KISS1R MECP2
3 liver/biliary system MP:0005370 9.43 PRL AR CYP19A1 GNRH1 KISS1R MECP2
4 reproductive system MP:0005389 9.32 GNRH1 GNRHR INSL3 KISS1R MECP2 PRL

Drugs & Therapeutics for Klinefelter's Syndrome

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

(show all 45)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Testosterone Approved, Investigational Phase 4,Phase 2,Phase 3 58-22-0 6013
2
Methyltestosterone Approved Phase 4,Phase 2,Phase 3 58-18-4 6010
3 Testosterone undecanoate Phase 4,Phase 2,Phase 3
4 Testosterone 17 beta-cypionate Phase 4,Phase 2,Phase 3
5
Testosterone enanthate Phase 4,Phase 2,Phase 3 315-37-7 9416
6 Anabolic Agents Phase 4,Phase 2,Phase 3
7 Hormone Antagonists Phase 4,Phase 2,Phase 3,Phase 1
8 Androgens Phase 4,Phase 2,Phase 3
9 Hormones Phase 4,Phase 2,Phase 3,Phase 1
10 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2,Phase 3,Phase 1
11 Antineoplastic Agents, Hormonal Phase 4,Phase 2,Phase 3
12 Gastrointestinal Agents Phase 2, Phase 3
13 Laxatives Phase 2, Phase 3
14 Castor Oil Phase 2, Phase 3
15 Cathartics Phase 2, Phase 3
16 Castor Nutraceutical Phase 2, Phase 3
17
Oxandrolone Approved, Investigational Phase 2 53-39-4 5878
18
Isotretinoin Approved Phase 2 4759-48-2 5538 5282379
19
Vitamin C Approved, Nutraceutical Phase 2 50-81-7 5785 54670067
20
Calcitriol Approved, Nutraceutical Phase 2 32222-06-3 134070 5280453
21
Tretinoin Approved, Investigational, Nutraceutical Phase 2 302-79-4 5538
22 vitamin d Phase 2
23 Dermatologic Agents Phase 2
24 Trace Elements Phase 2
25 Dihydroxycholecalciferols Phase 2
26 Vasoconstrictor Agents Phase 2
27 Vitamins Phase 2
28 Estrogens Phase 2
29 Estrogens, Conjugated (USP) Phase 2
30 Protective Agents Phase 2
31 Keratolytic Agents Phase 2
32 Micronutrients Phase 2
33 Bone Density Conservation Agents Phase 2
34 Antioxidants Phase 2
35 Calcium, Dietary Phase 2
36
Epinephrine Approved, Vet_approved 51-43-4 5816
37
Menthol Approved 2216-51-5 16666
38 insulin
39 Chorionic Gonadotropin
40 Anesthetics
41 Insulin, Globin Zinc
42 Hemostatics
43 Epinephryl borate
44 Racepinephrine
45 interferons

Interventional clinical trials:

(show all 30)
id Name Status NCT ID Phase
1 Body Composition in Infants With Klinefelter Syndrome and Effects of Testosterone Treatment Recruiting NCT02408445 Phase 4
2 Androgen for Leydig Cell Proliferation Completed NCT01206270 Phase 2, Phase 3
3 Androgen Effect on Klinefelter Syndrome Motor Outcome Active, not recruiting NCT00348946 Phase 2
4 RA-2 13-cis Retinoic Acid (Isotretinoin) Active, not recruiting NCT02061384 Phase 2
5 Elucidating Kisspeptin Physiology by Blocking Kisspeptin Signaling Recruiting NCT01438073 Phase 1
6 Non-Invasive Determination of Fetal Chromosome Abnormalities Unknown status NCT00891852
7 Adaptation Among Adolescents and Adults With Klinefelter Syndrome Completed NCT00896272
8 Neuropsychologic, Neuroradiologic, Endocrinologic, and Genetic Aspects of Klinefelter Syndrome Completed NCT00999310
9 Klinefelter Fertility Preservation Completed NCT01817296
10 Epigenetics and Metabolic Disorders in Men With the Klinefelter Syndrome Completed NCT01703676
11 Life Quality and Health in Patients With Klinefelter Syndrome Completed NCT01690013
12 Human Chorionic Gonadotropin Stimulation Effects on Steroidogenesis in Men With Klinefelter Syndrome Completed NCT02788136
13 Subcapsular Orchiectomy in Men With Klinefelter Syndrome Completed NCT01750632
14 Body Composition, Bone Mineral Density, Insulin Sensitivity and Echocardiographic Measurements in Klinefelter Syndrome Completed NCT00523835
15 Sperm Production in Kleinfelter Syndrome Patients After Mesenchymal Stem Cell Injection Completed NCT02414295
16 X-chromosome Inactivation, Epigenetics and the Transcriptome Completed NCT01678261
17 Development and Decline of Brain and Cognition Through the Life Span Completed NCT00880451
18 Fertility Assessment in Patients With Klinefelter Syndrome Recruiting NCT02461303
19 Study of Psychological and Motor Effects of Testosterone in Adolescents With XXY/Klinefelter Syndrome Recruiting NCT01585831
20 Fertility Preservation in Cases of Klinefelter Syndrome. Recruiting NCT01918280
21 Thrombosis and Neurocognition in Klinefelter Syndrome Recruiting NCT02526628
22 Cardiometabolic Profiles of Boys With Klinefelter Syndrome Recruiting NCT02723305
23 The Clinical Study of Sex Chromosome Variants Recruiting NCT01661010
24 Expanded Noninvasive Genomic Medical Assessment: The Enigma Study Recruiting NCT02787486
25 Brain Imaging of Childhood Onset Psychiatric Disorders, Endocrine Disorders and Healthy Volunteers Recruiting NCT00001246
26 Whole Blood Specimen Collection From Pregnant Subjects Recruiting NCT02430584
27 Development of Non-invasive Prenatal Test for Microdeletion and Other Genetic Syndromes Based on Cell Free DNA Recruiting NCT02109770
28 Impact of Gender and Pubertal Status on Human Plasmacytoid Dendritic Cells Not yet recruiting NCT02956980
29 Testicular Tissue Cryopreservation for Fertility Preservation in Male Patients Facing Infertility-causing Diseases or Treatment Regimens Not yet recruiting NCT02687880
30 Adaptive Behavior Assessment of Men With 49, XXXXY, Klinefelter Syndrome Withdrawn NCT00347464

Search NIH Clinical Center for Klinefelter's Syndrome

Cochrane evidence based reviews: klinefelter syndrome

Genetic Tests for Klinefelter's Syndrome

Genetic tests related to Klinefelter's Syndrome:

id Genetic test Affiliating Genes
1 Hypogonadotropic Hypogonadism 24

Anatomical Context for Klinefelter's Syndrome

MalaCards organs/tissues related to Klinefelter's Syndrome:

39
Breast, Testes, Bone, Testis, Pituitary, Prostate, Thyroid

Publications for Klinefelter's Syndrome

Articles related to Klinefelter's Syndrome:

(show top 50) (show all 520)
id Title Authors Year
1
Klinefelter's syndrome (47,XXY) is in excess among men with SjAPgren's syndrome. ( 27109640 )
2016
2
Sexual dysfunction in Klinefelter's syndrome patients. ( 27659917 )
2016
3
Anatomical and clinical aspects of Klinefelter's Syndrome. ( 26823086 )
2016
4
Testicular function during puberty and young adulthood in patients with Klinefelter's syndrome with and without spermatozoa in seminal fluid. ( 27611179 )
2016
5
Clinical Question - Should we be offering fertility preservation by surgical sperm retrieval to men with Klinefelter's Syndrome? ( 28028824 )
2016
6
A case of Madelung's disease accompanied by Klinefelter's syndrome. ( 25945255 )
2015
7
Tremor and Klinefelter's Syndrome. ( 26175955 )
2015
8
Hypersexuality, Paraphilic Behaviors, and Gender Dysphoria in Individuals with Klinefelter's Syndrome. ( 26612786 )
2015
9
Outcomes of Micro-Dissection TESE in Patients with Non-Mosaic Klinefelter's Syndrome without Hormonal Treatment. ( 25780524 )
2015
10
Ploidy of spermatogenic cells of men with non-mosaic Klinefelter's syndrome as measured by a computerized cell scanning system. ( 26081126 )
2015
11
Age and markers of Leydig cell function, but not of Sertoli cell function predict the success of sperm retrieval in adolescents and adults with Klinefelter's syndrome. ( 26235799 )
2015
12
Primary hyperparathyroidism and Klinefelter's syndrome in a young man. ( 25859391 )
2015
13
Screening of endocrine organ-specific humoral autoimmunity in 47,XXY Klinefelter's syndrome reveals a significant increase in diabetes-specific immunoreactivity in comparison with healthy control men. ( 25935328 )
2015
14
Sperm retrieval from patients with nonmosaic Klinefelter's syndrome by semen cytology examination. ( 24668672 )
2014
15
Different clinical presentation of Klinefelter's syndrome in monozygotic twins. ( 24404777 )
2014
16
X-Linked agammaglobulinemia in a child with Klinefelter's syndrome. ( 24477949 )
2014
17
Neuropsychiatric Symptoms as The First Manifestation of Juvenile Systemic Lupus Erythematosus: A Complicated Case with Klinefelter's Syndrome. ( 24665330 )
2014
18
High circulating levels of CCL2 in patients with Klinefelter's syndrome. ( 23663065 )
2014
19
Associations between Klinefelter's syndrome and autoimmune diseases: English national record linkage studies. ( 25295757 )
2014
20
Germ cell loss is associated with fading Lin28a expression in a mouse model for Klinefelter's syndrome. ( 24298047 )
2014
21
Coexistence of Ankylosing Spondylitis and Klinefelter's Syndrome. ( 23762731 )
2013
22
Klinefelter's syndrome does not cause delayed puberty. ( 23364062 )
2013
23
Twin Pregnancy Obtention of Patient with Nonmosaic Klinefelter's Syndrome and His Wife with Chromosome 9 Inversion by ICSI Treatment. ( 24520478 )
2013
24
Male infertility in Northeast China: molecular detection of Y chromosome microdeletions in azoospermic patients with Klinefelter's syndrome. ( 24301758 )
2013
25
Diagnosis of Klinefelter's syndrome is confounded by obesity. ( 23364061 )
2013
26
A case of Klinefelter's syndrome with refractory asthma, diabetes mellitus and rib fracture. ( 23286505 )
2013
27
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
28
Klinefelter's syndrome and venous thrombosis. ( 23377169 )
2013
29
Plasma insulin-like factor 3 (INSL3) in male patients with osteoporosis and Klinefelter's syndrome. ( 24640568 )
2013
30
Digit ratio (2D:4D) in Klinefelter's syndrome. ( 23258636 )
2013
31
Different profile of endothelial cell apoptosis in patients with Klinefelter's syndrome. ( 22399099 )
2013
32
Recurrent deep vein thrombosis and pulmonary embolism in a patient with Klinefelter's syndrome. ( 23052903 )
2013
33
Klinefelter's syndrome--a diagnosis mislaid for 46 years. ( 23207500 )
2012
34
Klinefelter's syndrome. ( 23207502 )
2012
35
Klinefelter's syndrome complicated with West syndrome in a 4-month-old boy. ( 21470806 )
2012
36
Leg ulcers associated with Klinefelter's syndrome: a case report and review of the literature. ( 21854549 )
2012
37
A Rare Presentation of the Klinefelter's Syndrome. ( 23285452 )
2012
38
A man with Klinefelter's syndrome and new abdominal distension: a discussion of evaluation and management. ( 21660410 )
2012
39
Clinical Presentation of Klinefelter's Syndrome: Differences According to Age. ( 22291701 )
2012
40
Klinefelter's syndrome associated with progressive muscular atrophy simulating Kennedy's disease. ( 22919202 )
2012
41
Klinefelter's syndrome (mosaic) with chromosome 9 inv and schizophrenia. ( 22556446 )
2012
42
Extensive portal and mesenteric vein thrombosis in a young man with Klinefelter's syndrome. ( 22175800 )
2012
43
Criminality in men with Klinefelter's syndrome and XYY syndrome: a cohort study. ( 22357573 )
2012
44
A case of Klinefelter's syndrome with type 1 diabetes mellitus. ( 22490600 )
2012
45
Multiple cardiac anomalies in an elderly man with Klinefelter's syndrome. ( 21298229 )
2011
46
Non-mosaic, non-azoospermic Klinefelter's syndrome in a young man with bilateral varicocele. ( 21747219 )
2011
47
Klinefelter's syndrome (47,XXY) among men with systemic lupus erythematosus. ( 21375582 )
2011
48
Schizotypy: key feature of Klinefelter's syndrome? ( 22689840 )
2011
49
Expression of selected genes escaping from X inactivation in the 41, XX(Y)* mouse model for Klinefelter's syndrome. ( 21241365 )
2011
50
Hidden mosaicism in patients with Klinefelter's syndrome: implications for genetic reproductive counselling. ( 22016414 )
2011

Variations for Klinefelter's Syndrome

Copy number variations for Klinefelter's Syndrome from CNVD:

7 (show all 23)
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 132541 19 59310648 59326954 Microdeletion PRPF31 Klinefelter syndrome
2 266741 Y 1 57772954 Deletion azoospermia Klinefelter syndrome
3 266742 Y 1 57772954 Deletion factor Klinefelter syndrome
4 266747 Y 1 57772954 Microdeletion AZFc Klinefelter syndrome
5 266797 Y 11300000 27200000 Microdeletio BPY2 Klinefelter syndrome
6 266799 Y 11300000 27200000 Microdeletio CDY1 Klinefelter syndrome
7 266801 Y 11300000 27200000 Microdeletio CDY2 Klinefelter syndrome
8 266803 Y 11300000 27200000 Microdeletio CSPG4LY Klinefelter syndrome
9 266805 Y 11300000 27200000 Microdeletio DAZ Klinefelter syndrome
10 266807 Y 11300000 27200000 Microdeletio EIF1AY Klinefelter syndrome
11 266809 Y 11300000 27200000 Microdeletio GOLGA2LY Klinefelter syndrome
12 266811 Y 11300000 27200000 Microdeletio HSFY Klinefelter syndrome
13 266813 Y 11300000 27200000 Microdeletio PRY Klinefelter syndrome
14 266815 Y 11300000 27200000 Microdeletio RBMYL1 Klinefelter syndrome
15 266817 Y 11300000 27200000 Microdeletio RPS4YS Klinefelter syndrome
16 266819 Y 11300000 27200000 Microdeletio SMCY Klinefelter syndrome
17 266821 Y 11300000 27200000 Microdeletio XKRY Klinefelter syndrome
18 266855 Y 11300000 57772954 Microdeletion AZF Klinefelter syndrome
19 266856 Y 11300000 57772954 Microdeletion AZFa Klinefelter syndrome
20 266859 Y 11300000 57772954 Microdeletion AZFc Klinefelter syndrome
21 266866 Y 11300000 57772954 Microdeletion b Klinefelter syndrome
22 266921 Y 13322553 13482162 Microdeletion DFFRY Klinefelter syndrome
23 266988 Y 18390253 18758303 Microdeletion XKRY Klinefelter syndrome

Expression for Klinefelter's Syndrome

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

Pathways for Klinefelter's Syndrome

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

id Super pathways Score Top Affiliating Genes
1 10.59 CYP19A1 FSHB
2 10.39 AR GNRH1 SHBG
3 9.91 FSHB GNRH1 GNRHR

GO Terms for Klinefelter's Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.73 AR FSHB MECP2 PRL
2 regulation of gene expression GO:0010468 9.63 AR GNRH1 MECP2
3 response to organic cyclic compound GO:0014070 9.54 AMH GNRH1 PRL
4 female pregnancy GO:0007565 9.5 FSHB GNRH1 PRL
5 sex differentiation GO:0007548 9.4 AMH AR
6 ovulation cycle GO:0042698 9.26 GNRH1 PRL
7 multicellular organismal response to stress GO:0033555 9.16 MECP2 PRL
8 cell-cell signaling GO:0007267 9.02 AMH AR FSHB GNRH1 INSL3
9 prostate gland growth GO:0060736 8.96 AR CYP19A1

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

id Name GO ID Score Top Affiliating Genes
1 steroid binding GO:0005496 9.16 AR SHBG
2 hormone activity GO:0005179 9.02 AMH FSHB GNRH1 INSL3 PRL
3 androgen binding GO:0005497 8.96 AR SHBG

Sources for Klinefelter's Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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