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
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
2
Klinefelter's syndrome complicated with West syndrome in a 4-month-old boy. (21470806)
2012
3
A man with Klinefelter's syndrome and new abdominal distension: a discussion of evaluation and management. (21660410)
2012
4
Hidden mosaicism in patients with Klinefelter's syndrome: implications for genetic reproductive counselling. (22016414)
2011
5
Klinefelter's syndrome and psychoneurologic function. (20197378)
2010
6
Klinefelter's syndrome: a clinical and therapeutical update. (20664188)
2010
7
Genital anomalies in Klinefelter's syndrome. (17641549)
2007
8
The clinical significance of bone mineral density and testosterone levels in Korean men with non-mosaic Klinefelter's syndrome. (17092285)
2007
9
The structural brain correlates of cognitive deficits in adults with Klinefelter's syndrome. (16403821)
2006
10
Four pregnancies in nonmosaic Klinefelter's syndrome using cryopreserved-thawed testicular spermatozoa. (16275253)
2005
11
Increased activity of factor VIII coagulant associated with venous ulcer in a patient with Klinefelter's syndrome. (15752302)
2005
12
Graves' disease associated with Klinefelter's syndrome. (15119010)
2004
13
Functional neuroimaging provides evidence of anomalous cerebral laterality in adults with Klinefelter's syndrome. (14595657)
2003
14
Cholelithiasis in an infant with Klinefelter's syndrome. (12356111)
2002
15
Outcome of ICSI using fresh and cryopreserved-thawed testicular spermatozoa in patients with non-mosaic Klinefelter's syndrome. (11726584)
2001
16
Klinefelter's syndrome and assisted reproduction. (11704140)
2001
17
Ejaculated spermatozoa in patients with non-mosaic Klinefelter's syndrome. (10750887)
2000
18
Birth of twin males with normal karyotype after intracytoplasmic sperm injection with use of testicular spermatozoa from a nonmosaic patient with Klinefelter's syndrome. (10360927)
1999
19
Effects of gonadotropin and testosterone treatments on plasma leptin levels in male patients with idiopathic hypogonadotropic hypogonadism and Klinefelter's syndrome. (9660087)
1998
20
47 XXY/46 XY mosaic Klinefelter's syndrome presenting with multiple endocrine abnormalities. (8797055)
1996
21
Probable de novo 17q duplication (q11.2-->q21.1): a newly recognised chromosomal syndrome in a child with Klinefelter's syndrome. (8320713)
1993
22
The influence of testosterone substitution on bone mineral density in patients with Klinefelter's syndrome. (1305064)
1992
23
Klinefelter's syndrome accompanied by diabetes mellitus and diabetes insipidus. (1450502)
1992
24
Cyclosporine A (CyA)-induced decrease of serum gonadotropin levels in a case of Klinefelter's syndrome. (1901551)
1991
25
Klinefelter's syndrome with anomalous origin of left main coronary artery. (2032281)
1991
26
A clinical case of Klinefelter's syndrome with various psychiatric symptoms. (2637390)
1989
27
Klinefelter's syndrome associated with autoimmune disease. (2795581)
1989
28
Chronic myelogenous leukemia and Klinefelter's syndrome. (2917636)
1989
29
Primary myelodysplastic syndrome with complex chromosomal rearrangements in a patient with Klinefelter's syndrome. (3712399)
1986
30
Klinefelter's syndrome, mosaic 46,XX/46,XY/47,XXY/48,XXXY/48,XXYY: a case report. (3490207)
1986
31
Extensive verrucosis, squamous cell carcinoma, and immunologic abnormality in Klinefelter's syndrome. (3771055)
1986
32
A case of 48,XXYY Klinefelter's syndrome with incurable skin ulcer. (3750591)
1986
33
Causes of death in X chromatin positive males (Klinefelter's syndrome). (4086964)
1985
34
A case of Klinefelter's syndrome with acquired hypopituitarism. (6695538)
1984
35
Hemispheric lateralization in 47,XXY Klinefelter's syndrome boys. (6537238)
1984
36
Case study: Klinefelter's syndrome. (6650554)
1983
37
Psychiatric disturbances in a 6-year-old boy with Klinefelter's syndrome. (6879281)
1983
38
Klinefelter's syndrome associated with systemic sclerosis. (7145800)
1982
39
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
40
Klinefelter's syndrome and Breast cancer. (7125242)
1982
41
Testicular hypoplasia in a Hereford bull with 61,XXY karyotype: the bovine counterpart of human Klinefelter's syndrome. (7408494)
1980
42
Hormonal studies in a male with a 47,XXX chromosome constitution: comparison with the hormonal pattern of a 46,XX male and patients with Klinefelter's syndrome. (6771321)
1980
43
Neurological, neuropsychological, and behavioral correlates of Klinefelter's syndrome. (448339)
1979
44
Effect of age on testicular function in patients with Klinefelter's syndrome. (509745)
1979
45
Manic-depressive illness associated with Klinefelter's syndrome and essential tremors. (655296)
1978
46
An XYY boy with short stature and a case of Klinefelter's syndrome (XXY) in a family with inversion 9. (699364)
1978
47
Response to thyrotrophin releasing hormone in Klinefelter's syndrome. (416925)
1978
48
Klinefelter's syndrome and trisomy 18 in a newborn boy. (639335)
1978
49
Klinefelter's syndrome in identical twins associated with chordee without hypospadias. (926249)
1977
50
Bilateral teratoma of testis in two brothers with 47,XXY Klinefelter's syndrome. (1149322)
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
1estrogen4410.9SRD5A1
2androstenediol4410.6SRD5A1, CYP19A1, SHBG, AR
3nafarelin44 59 28 1113.6GNRH1, GNRHR, CGA, CYP19A1, CYP21A2
4danazol44 11 2412.6GNRH1, GNRHR, AR, SHBG, CYP19A1
5leuprolide44 59 28 1113.6GNRH1, GNRHR, AR, CGA, SRD5A1
65alpha-androstane-3alpha,17beta-diol4410.6AR, SHBG, CYP19A1, SRD5A1
7spironolactone49 44 59 28 1114.6GNRH1, AR, SHBG, CYP21A2, SRD5A1
8clomiphene citrate4410.6GNRH1, CGA, CGB, SHBG, CYP19A1, CYP21A2
9leuprolide acetate4410.6GNRH1, GNRHR, CGA, SHBG, CYP19A1, CYP21A2
10cyproteroneacetate4410.6SRD5A1, CYP19A1, SHBG, AR, GNRH1
11hydroxyflutamide44 2811.6AR, CGA, SHBG, SRD5A1
12Drostanolone1110.6CYP19A1, SHBG, AR
13antarelix44 2811.6GNRHR, GNRH1, CGA
14diethylstilbestrol44 28 1112.6GNRH1, AR, CGA, SHBG, CYP19A1
15ketoconazole44 28 11 2413.6AR, SHBG, CYP19A1, CYP21A2, SRD5A1
16buserelin44 28 1112.6GNRH1, GNRHR, CGA, CYP19A1
1717beta-hydroxysteroid4410.6AR, CGA, CYP19A1, CYP21A2, SRD5A1
18goserelin44 28 1112.6GNRH1, GNRHR, CGA, SHBG, CYP19A1, SRD5A1
19finasteride44 59 11 2413.6AR, SHBG, CYP19A1, SRD5A1
203beta-hydroxysteroid4410.6AR, CGA, CYP19A1, CYP21A2, INHA, SRD5A1
2117-hydroxyprogesterone44 2411.6GNRH1, CGA, SHBG, CYP19A1, CYP21A2, SRD5A1
22progestins4410.6GNRH1, AR, SHBG, CYP19A1, SRD5A1
23flutamide44 59 1112.5GNRH1, AR, CGA, SHBG, CYP19A1, SRD5A1
24mifepristone44 59 28 1113.5GNRH1, AR, CGA, CGB, SHBG, CYP19A1
25exemestane49 44 59 1113.5SRD5A1, CYP19A1, SHBG, AR
26epitestosterone4410.5CGA, SHBG, SRD5A1
27dehydroepiandrosterone sulfate4410.5GNRH1, AR, CGA, SHBG, CYP19A1, CYP21A2
28acyline4410.5GNRH1, GNRHR, SRD5A1
29progestin4410.5GNRH1, AR, CGA, SHBG, CYP19A1, SRD5A1
30glutamate4410.5GNRH1, AR, MECP2, CGA, CYP21A2
31ganirelix44 2811.5CGA, GNRHR, GNRH1
32dihydrotestosterone44 28 11 2413.5GNRH1, GNRHR, AR, CGA, SHBG, CYP19A1
33androstenedione44 2411.5GNRH1, AR, CGA, CGB, SHBG, CYP19A1
34tamoxifen44 49 28 1113.4GNRH1, GNRHR, AR, CGA, SHBG, HBB
35dhea4410.4AR, SHBG, CYP19A1, CYP21A2, SRD5A1
36estradiol44 11 2412.4GNRH1, GNRHR, AR, CGA, CGB, SHBG
37letrozole44 49 59 1113.4CYP19A1, SHBG, CGA, AR
38adenylate4410.3GNRH1, GNRHR, AR, CGA, SHBG, HBB
39arginine4410.3GNRH1, GNRHR, AR, MECP2, CGA, SHBG
40alanine4410.3GNRH1, GNRHR, MECP2, CGA, CGB, SHBG
41levonorgestrel44 59 28 1113.3AR, SHBG, CYP19A1, SRD5A1
42d-trp6-lhrh4410.3GNRH1, GNRHR, CGA
43progesterone44 59 28 11 2414.3CGB, CGA, AR, GNRHR, GNRH1, SHBG
44genistein44 28 59 2 11 2415.2AR, SHBG, CYP19A1, CYP21A2, FGFR1, CFTR
45steroid4410.2HBB, CYP19A1, CYP21A2, FGFR1, INHA, KISS1
46ment4410.2SHBG, CYP19A1, SRD5A1
47estrone44 28 11 2413.2SRD5A1, CYP19A1, SHBG, AR, GNRH1
48gnrh4410.1GNRH1, GNRHR, KAL1, AR, CGA, CGB
49testosterone44 59 11 2413.1SRD5A1, CGA, CGB, SHBG, IGFL3, 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