MCID: KLN001
MIFTS: 67

Klinefelter's Syndrome malady

Genetic diseases category

Summaries for Klinefelter's Syndrome

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21Genetics Home Reference, 42NIH Rare Diseases, 33MedlinePlus, 63Wikipedia, 32MalaCards
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NIH Rare Diseases:42 Klinefelter syndrome (ks) is a condition that may be present in an individual that has two x chromosomes and one y chromosome (47, xxy); usually, males have one x and one y (xy) and females have two x chromosomes (xx). some individuals with a 47, xxy chromosome finding may have no obvious signs or symptoms of ks while others may have several features and varying degrees of cognitive, social, behavioral, and learning difficulties. because features may not be apparent until mid to late adolescence, the term “klinefelter syndrome” is often reserved for affected adolescents and adults. although the vast majority of boys with ks identify as males, some individuals develop atypical gender identities. in adulthood, individuals with klinefelter syndrome may have primary hypogonadism (decreased testosterone production), small testes, enlarged breast tissue (gynecomastia), tall stature, and/or other features. the vast majority of males with ks 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: Klinefelter's Syndrome, also known as klinefelter syndrome, is related to hypogonadotropism and hypogonadism. An important gene associated with Klinefelter's Syndrome is AZF1 (azoospermia factor 1), and among its related pathways are Endogenous sterols and Nongenotropic Androgen signaling. The compounds estrogen and androstenediol have been mentioned in the context of this disorder. Affiliated tissues include breast, testes and bone, and related mouse phenotypes are endocrine/exocrine gland and liver/biliary system.

Genetics Home Reference:21 Klinefelter syndrome is a chromosomal condition that affects male physical and cognitive development. Its signs and symptoms vary among affected individuals.

MedlinePlus:33 Klinefelter's 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:63 Klinefelter syndrome (/ˈklaɪnfɛltər/) or Klinefelter\'s syndrome is the set of symptoms resulting... more...

Aliases & Classifications for Klinefelter's Syndrome

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8Disease Ontology, 42NIH Rare Diseases, 21Genetics Home Reference, 33MedlinePlus, 63Wikipedia, 22GTR, 60UMLS, 10DISEASES, 44Novoseek, 56SNOMED-CT, 39NCIt, 34MeSH, 27ICD9CM, 25ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases


Aliases & Descriptions:

klinefelter's syndrome 8 42 21 33
klinefelter syndrome 63 42 21 60
xxy syndrome 8 63 42 21
xxy trisomy 8 63 42 21
hypogonadotropic hypogonadism 8 22 60
klinefelters syndrome 10 44
47, xxy 42
47 xxy 42
47,xxy 63


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Disease Ontology8 DOID:1921
NCIt39 C34752
ICD9CM27 758.7
ICD1025 Q98.4

Related Diseases for Klinefelter's Syndrome

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17GeneCards, 18GeneDecks
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Diseases related to Klinefelter's Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 244)
idRelated DiseaseScoreTop Affiliating Genes
1hypogonadotropism32.0KISS1R, GNRH1
2hypogonadism32.0KISS1, KISS1R, FGFR1, CYP19A1, SHBG, CGA
3kallmann syndrome31.1GNRH1, GNRHR, KAL1, CGA, FGFR1, KISS1R
4obesity30.7AR, SHBG, CYP21A2, FGFR1, INHA, SRD5A1
5infertility30.7CFTR, DAZ4, INHA, CYP21A2, CYP19A1, SHBG
6prostatitis30.3SRD5A1
7male infertility30.3CYP21A2, CYP19A1, SHBG, CGA, AR, GNRH1
8seminoma30.2INHA, CGB, CGA
9turner syndrome30.2CGA, CGB, SHBG, CYP21A2
10amenorrhea30.1SHBG, GNRH1
11renal agenesis30.1KAL1, CFTR
12hyperprolactinemia30.1GNRH1, CGA, CGB, SHBG, SRD5A1
13adenocarcinoma30.1GNRHR, AR, MECP2, CGB, CYP21A2, FGFR1
14azoospermia30.1AZF1, GNRH1, AR, CGA, SHBG, CYP21A2
15cryptorchidism30.1CGA, AR, KAL1, GNRH1, AZF1, SHBG
1621-hydroxylase deficiency30.1CYP21A2, INHA
17leydig cell tumor30.1GNRH1, CGA, CYP19A1, CYP21A2, INHA, SRD5A1
18breast cancer30.1SHBG, CGB, MECP2, AR, GNRHR, GNRH1
19diabetes mellitus29.9SHBG
20hypospadias29.9AR, CGA, CYP21A2, SRD5A1
21cleft palate29.9FGFR1
22down syndrome29.9MECP2, CGA, CGB, HBB, INHA
23prostate cancer29.9AR, SRD5A1
24gynecomastia29.9SRD5A1, INHA, CYP19A1, SHBG, CGA, AR
25leukemia29.9MECP2, CGB, HBB, FGFR1, CFTR
26hypogonadotropic hypogonadism 9 with or without anosmia10.6
27hypogonadotropic hypogonadism 17 with or without anosmia10.6
28hypogonadotropic hypogonadism 2 with or without anosmia10.6
29hypogonadotropic hypogonadism 8 with or without anosmia10.6
30cerebellar ataxia and hypogonadotropic hypogonadism10.5
31hypogonadotropic hypogonadism 13 with or without anosmia10.5
32hypogonadotropic hypogonadism 15 with or without anosmia10.5
33hypogonadotropic hypogonadism 4 with or without anosmia10.5
34hypogonadotropic hypogonadism 18 with or without anosmia10.5
35hypogonadotropic hypogonadism 7 with or without anosmia10.5
36hypogonadotropic hypogonadism 11 with or without anosmia10.5
37hypogonadotropic hypogonadism 16 with or without anosmia10.5
38hypogonadotropic hypogonadism 20 with or without anosmia10.5
39hypogonadotropic hypogonadism 12 with or without anosmia10.5
40hypogonadotropic hypogonadism 6 with or without anosmia10.5
41hypogonadotropic hypogonadism 14 with or without anosmia10.5
42hypogonadotropic hypogonadism 10 with or without anosmia10.5
43hypogonadotropic hypogonadism 19 with or without anosmia10.5
44hypogonadotropic hypogonadism 3 with or without anosmia10.5
45hypogonadotropic hypogonadism 21 with anosmia10.5
46hypogonadotropic hypogonadism 1 with or without anosmia10.5
47pol iii-related leukodystrophies10.5
48hypogonadotropic hypogonadism 5 with or without anosmia10.5
49isolated gonadotropin-releasing hormone deficiency10.5
50aicardi syndrome10.4

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



Diseases related to klinefelter's syndrome

Clinical Features for Klinefelter's Syndrome

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Drugs & Therapeutics for Klinefelter's Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Klinefelter's Syndrome

Drug clinical trials:

Search ClinicalTrials for Klinefelter's Syndrome

Search NIH Clinical Center for Klinefelter's Syndrome

Search CenterWatch for Klinefelter's Syndrome

Genetic Tests for Klinefelter's Syndrome

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22GTR
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Genetic tests related to Klinefelter's Syndrome:

id Genetic test Affiliating Genes
1 Hypogonadotropic Hypogonadism22

Anatomical Context for Klinefelter's Syndrome

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32MalaCards
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MalaCards organs/tissues related to Klinefelter's Syndrome:

32
Breast, Testes, Bone, Testis, Pituitary, Prostate, Thyroid, Skin, Endothelial, T cells, Brain, Spinal cord, Myeloid, Kidney, B cells, Liver, Lung

Animal Models for Klinefelter's Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Klinefelter's Syndrome:

36 (show all 12)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537910.3SRD5A1, GNRHR, MECP2, FGFR1, INHA, KISS1R
2MP:000537010.2GNRH1, AR, MECP2, HBB, CYP19A1, INHA
3MP:001077110.2GNRH1, GNRHR, AR, MECP2, HBB, FGFR1
4MP:000538110.2GNRH1, GNRHR, AR, FGFR1, INHA, KISS1R
5MP:000287310.2GNRH1, GNRHR, AR, MECP2, HBB, CYP19A1
6MP:000536710.1GNRH1, GNRHR, AR, HBB, FGFR1, KISS1R
7MP:000538910.1GNRH1, GNRHR, AR, MECP2, CGA, HBB
8MP:000537810.0CGA, MECP2, AR, GNRHR, GNRH1, HBB
9MP:000363110.0AR, MECP2, CGA, HBB, CYP19A1, FGFR1
10MP:000537610.0GNRH1, GNRHR, AR, MECP2, CGA, HBB
11MP:00053879.9GNRH1, AR, MECP2, HBB, CYP19A1, FGFR1
12MP:00053909.8GNRH1, AR, MECP2, HBB, CYP19A1, FGFR1

Publications for Klinefelter's Syndrome

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50PubMed
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Articles related to Klinefelter's Syndrome:

(show top 50)    (show all 499)
idTitleAuthorsYear
1
High circulating levels of CCL2 in patients with Klinefelter's syndrome. (23663065)
2014
2
Diagnosis of Klinefelter's syndrome is confounded by obesity. (23364061)
2013
3
A Rare Presentation of the Klinefelter's Syndrome. (23285452)
2012
4
Leg ulcers associated with positive lupus anticoagulant in two cases of Klinefelter's syndrome. (20938622)
2011
5
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
6
Endothelial progenitor cells as a new cardiovascular risk factor in Klinefelter's syndrome. (20228052)
2010
7
Autoimmunity and Klinefelter's syndrome: when men have two X chromosomes. (19464849)
2009
8
Klinefelter's syndrome (47,XXY) in male systemic lupus erythematosus patients: support for the notion of a gene-dose effect from the X chromosome. (18668569)
2008
9
Rheumatic diseases and Klinefelter's syndrome. (16544736)
2006
10
Klinefelter's syndrome associated with systemic lupus erythematosus and autoimmune hepatitis. (17039312)
2006
11
Androgen insensitivity syndrome and Klinefelter's syndrome: sex and gender considerations. (15183377)
2004
12
Klinefelter's syndrome with myopathy--a case report. (15472454)
2004
13
Colobomas of the iris and choroid and high signal intensity cerebral foci on T2-weighted magnetic resonance images in Klinefelter's syndrome. (15305539)
2004
14
Can biological or clinical parameters predict testicular sperm recovery in 47,XXY Klinefelter's syndrome patients? (15070870)
2004
15
An increased incidence of autosomal aneuploidies in spermatozoa from a patient with Klinefelter's syndrome. (12801572)
2003
16
Klinefelter's syndrome and precocious puberty: a harbinger for tumor. (12350505)
2002
17
Klinefelter's syndrome in the male infertility clinic. (10647705)
2000
18
Seizures in Klinefelter's syndrome. (9830997)
1998
19
A prolactin-secreting tumor in a patient with Klinefelter's syndrome: a case report. (8862506)
1996
20
Increased prolactin secretion and thyrotrophin response to thyrotrophin releasing hormone in Klinefelter's syndrome. (7755189)
1995
21
Klinefelter's syndrome. (7716042)
1995
22
Klinefelter's syndrome and epileptic psychosis: a case report. (1635336)
1992
23
Acute lymphoblastic leukemia and Klinefelter's syndrome. (1558779)
1992
24
Klinefelter's syndrome and liver adenoma. (1851773)
1991
25
Klinefelter's syndrome and primary central nervous system lymphoma. (2184340)
1990
26
Isolated primary aldosteronism in a patient with adrenal carcinoma and XY/XXY mosaic Klinefelter's syndrome. (2231941)
1990
27
Variation studies of fingerprints in XXY Klinefelter's syndrome. (3583779)
1987
28
Platelet hyperaggregability in a patient with Klinefelter's syndrome and leg ulcers. (3651329)
1987
29
Epidermoid cyst of the testis in Klinefelter's syndrome. (3433590)
1987
30
Klinefelter's syndrome and psychopathology: a case study of the combined effects of nature and nurture. (3610481)
1987
31
Naloxone administration does not affect gonadotropin secretion in patients with Klinefelter's syndrome. (3113147)
1987
32
Acute paranoid disorder and Klinefelter's syndrome. (3731012)
1986
33
Impaired T-cell-independent B-cell maturation in systemic lupus erythematosus: coculture experiments in monozygotic twins concordant for Klinefelter's syndrome but discordant for systemic lupus erythematosus. (2941197)
1986
34
Endocrine profile in patients with Klinefelter's syndrome. (6433820)
1984
35
Klinefelter's syndrome, schizophrenia, and breast cancer. (6129811)
1983
36
Leydig's and sertoli cells. Their fine structures in three cases of Klinefelter's syndrome. (6896133)
1982
37
Ratio of arm span to height not usually increased in Klinefelter's syndrome. (7078601)
1982
38
Urinary total hydroxyproline excretion in patients with Turner's syndrome and Klinefelter's syndrome. (7274994)
1981
39
Decreased insulin binding to erythrocytes in subjects with Klinefelter's syndrome. (6790562)
1981
40
Systemic lupus erythematosus and Klinefelter's syndrome. (7352933)
1980
41
Klinefelter's syndrome with agenesis of kidney, diabetes, hyperlipoproteinaemia and stroke. (534598)
1979
42
Taurodontism and Klinefelter's syndrome. (745217)
1978
43
Klinefelter's syndrome: a study of its hormonal plasma pattern. (573768)
1978
44
Terminations of palmar main lines and mainline indices in 47, XXY Klinefelter's syndrome. (613091)
1977
45
Klinefelter's syndrome. (927280)
1977
46
Position of axial triradius in 51 cases of 47, XXY Klinefelter's syndrome. (1035337)
1976
47
Letter: S.L.E. and Klinefelter's syndrome. (54617)
1976
48
The feedback effects of sex steroid hormones on pituitary gonadotropin release in Turner's syndrome and Klinefelter's syndrome. (50229)
1975
49
Plasma testosterone in Klinefelter's syndrome: diurnal variation and response to ACTH and dexamethasone. (164096)
1975
50
Klinefelter's syndrome associated with a D/D translocation. (1177283)
1975

Genetic Variations for Klinefelter's Syndrome

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Expression for genes affiliated with Klinefelter's Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Klinefelter's Syndrome

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

Pathways for genes affiliated with Klinefelter's Syndrome

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53Reactome, 37NCBI BioSystems Database, 12EMD Millipore, 29KEGG
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Compounds for genes affiliated with Klinefelter's Syndrome

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44Novoseek, 59Tocris Bioscience, 28IUPHAR, 11DrugBank, 24HMDB, 49PharmGKB, 2BitterDB
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Compounds related to Klinefelter's Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 137)
idCompoundScoreTop Affiliating Genes
1estrogen4410.8SRD5A1
2androstenediol4410.6AR, SHBG, SRD5A1, CYP19A1
3nafarelin44 59 28 1113.6GNRH1, GNRHR, CYP21A2, CYP19A1, CGA
4danazol44 11 2412.6GNRHR, CYP19A1, SHBG, AR, GNRH1
5leuprolide44 59 28 1113.6GNRH1, AR, SRD5A1, CGA, GNRHR
65alpha-androstane-3alpha,17beta-diol4410.6SHBG, SRD5A1, AR, CYP19A1
7spironolactone49 44 59 28 1114.6SHBG, AR, CYP21A2, SRD5A1, GNRH1
8clomiphene citrate4410.6CGB, CGA, GNRH1, CYP21A2, CYP19A1, SHBG
9leuprolide acetate4410.6CYP19A1, GNRHR, SHBG, CYP21A2, CGA, GNRH1
10cyproteroneacetate4410.6SRD5A1, GNRH1, AR, SHBG, CYP19A1
11hydroxyflutamide44 2811.6SHBG, AR, SRD5A1, CGA
12Drostanolone1110.6AR, SHBG, CYP19A1
13ketoconazole44 28 11 2413.6CYP21A2, SHBG, AR, SRD5A1, CYP19A1
14diethylstilbestrol44 28 1112.6CGA, AR, GNRH1, CYP19A1, SHBG
15buserelin44 28 1112.6CYP19A1, CGA, GNRHR, GNRH1
16goserelin44 28 1112.6CGA, GNRH1, GNRHR, SHBG, CYP19A1, SRD5A1
1717beta-hydroxysteroid4410.6SRD5A1, CYP21A2, CYP19A1, CGA, AR
18epitestosterone4410.6SHBG, SRD5A1, CGA
19finasteride44 59 11 2413.6SRD5A1, AR, CYP19A1, SHBG
203beta-hydroxysteroid4410.6CYP19A1, CGA, AR, CYP21A2, INHA, SRD5A1
2117-hydroxyprogesterone44 2411.6GNRH1, CYP21A2, CYP19A1, SHBG, CGA, SRD5A1
22progestins4410.6SRD5A1, AR, SHBG, CYP19A1, GNRH1
23flutamide44 59 1112.5SRD5A1, AR, GNRH1, CYP19A1, SHBG, CGA
24mifepristone44 59 28 1113.5CGA, GNRH1, SHBG, AR, CYP19A1, CGB
25acyline4410.5GNRH1, GNRHR, SRD5A1
26exemestane49 44 59 1113.5SHBG, CYP19A1, AR, SRD5A1
27antarelix44 2811.5CGA, GNRHR, GNRH1
28dehydroepiandrosterone sulfate4410.5AR, CGA, GNRH1, SRD5A1, SHBG, CYP19A1
29progestin4410.5SHBG, GNRH1, AR, CGA, SRD5A1, CYP19A1
30glutamate4410.5GNRH1, AR, CGA, CYP21A2, MECP2
31ganirelix44 2811.5GNRHR, GNRH1, CGA
32dihydrotestosterone44 28 11 2413.5CGA, GNRH1, GNRHR, AR, CYP21A2, SHBG
33androstenedione44 2411.4GNRH1, AR, CGA, CGB, SHBG, CYP19A1
34tamoxifen44 49 28 1113.4AR, GNRHR, CGA, GNRH1, SHBG, HBB
35dhea4410.4SHBG, CYP21A2, SRD5A1, CYP19A1, AR
36estradiol44 11 2412.4SRD5A1, INHA, CYP21A2, CGB, SHBG, CYP19A1
37letrozole44 49 59 1113.4AR, CGA, SHBG, CYP19A1
38adenylate4410.3CFTR, AR, CGA, GNRH1, SHBG, FGFR1
39arginine4410.3GNRH1, GNRHR, MECP2, AR, CYP21A2, CYP19A1
40alanine4410.3KISS1, KISS1R, CGA, MECP2, CGB, SHBG
41levonorgestrel44 59 28 1113.3SRD5A1, AR, SHBG, CYP19A1
42ment4410.3SHBG, CYP19A1, SRD5A1
43progesterone44 59 28 11 2414.3FGFR1, CGB, SRD5A1, CGA, AR, GNRHR
44genistein44 28 59 2 11 2415.2CYP21A2, FGFR1, AR, SRD5A1, SHBG, CYP19A1
45steroid4410.2KISS1, GNRH1, SRD5A1, INHA, FGFR1, CYP21A2
46d-trp6-lhrh4410.2GNRH1, GNRHR, CGA
47estrone44 28 11 2413.2SRD5A1, CYP19A1, SHBG, GNRH1, AR
48gnrh4410.1KAL1, GNRHR, GNRH1, AR, SRD5A1, CFTR
49testosterone44 59 11 2413.1KISS1, DAZ4, INHA, FGFR1, CYP21A2, CYP19A1
50formestane4410.0SHBG, CYP19A1, SRD5A1

GO Terms for genes affiliated with Klinefelter's Syndrome

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16Gene Ontology
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Cellular components related to Klinefelter's Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular regionGO:00557610.0KISS1, INHA, FGFR1, HBB, IGFL3, SHBG

Biological processes related to Klinefelter's Syndrome according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1steroid metabolic processGO:00820210.4SRD5A1, CYP21A2, CYP19A1
2positive regulation of MAPK cascadeGO:04341010.4AR, FGFR1, KISS1
3sterol metabolic processGO:01612510.4CYP21A2, CYP19A1
4prostate gland growthGO:06073610.4CYP19A1, AR
5cell-cell signalingGO:00726710.4INHA, CGB, CGA, AR, GNRH1
6positive regulation of synaptic transmissionGO:05080610.3KISS1, KISS1R
7sex differentiationGO:00754810.1SRD5A1, AR

Molecular functions related to Klinefelter's Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1androgen bindingGO:00549710.4SHBG, AR
2hormone activityGO:00517910.0INHA, CGB, CGA, GNRH1

Products for genes affiliated with Klinefelter's Syndrome

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Sources for Klinefelter's Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet