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
Coexistence of Ankylosing Spondylitis and Klinefelter's Syndrome. (23762731)
2013
2
Criminality in men with Klinefelter's syndrome and XYY syndrome: a cohort study. (22357573)
2012
3
Klinefelter's syndrome in a 5-year-old boy with behavioral disturbances and seizures. (22054630)
2011
4
Osteoporosis in Klinefelter's syndrome. (20348548)
2010
5
Neural correlates of error monitoring in an adult with Klinefelter's syndrome: a case report. (20722351)
2010
6
Clinical and therapeutic aspects of Klinefelter's syndrome: sexual function. (20348547)
2010
7
Strategies and advantages of early diagnosis in Klinefelter's syndrome. (20392711)
2010
8
Klinefelter's syndrome (karyotype 47,XXY) and schizophrenia-spectrum pathology. (17077438)
2006
9
Methylation of two Homo sapiens-specific X-Y homologous genes in Klinefelter's syndrome (XXY). (16741946)
2006
10
Sperm aneuploidy in fathers of Klinefelter's syndrome offspring assessed by multicolour fluorescent in situ hybridization using probes for chromosomes 6, 13, 18, 21, 22, X and Y. (16199425)
2006
11
Klinefelter's syndrome with seizure, pseudohypoparathyroidism type Ib and multiple endocrine dysfunctions. (16379343)
2005
12
De novo germinoma in the brain in association with Klinefelter's syndrome: case report and review of the literature. (14670679)
2003
13
The specific mitochondrial DNA polymorphism found in Klinefelter's syndrome. (12237124)
2002
14
Klinefelter's syndrome manifesting as an acute pulmonary embolus in a 52-year-old man. (11939765)
2002
15
Understanding Klinefelter's syndrome. (10826139)
2000
16
Analysis of meiosis in intratesticular germ cells from subjects affected by classic Klinefelter's syndrome. (10523034)
1999
17
Microdeletion of the DAZ (deleted in azoospermia) gene or the YRRM (Y chromosome ribonucleic acid recognition motif) gene does not occur in patients with Klinefelter's syndrome with and without spermatogenesis. (10202890)
1999
18
Birth of a healthy neonate following the intracytoplasmic injection of testicular spermatozoa from a patient with Klinefelter's syndrome. (10099981)
1999
19
Delivery of normal twins following the intracytoplasmic injection of spermatozoa from a patient with 47,XXY Klinefelter's syndrome. (9436682)
1997
20
Localization by venous sampling of occult chorionic gonadotropin-secreting tumor in a boy with mosaic Klinefelter's syndrome and precocious puberty. (8923820)
1996
21
Double aneuploidy with Down's-Klinefelter's syndrome. (8935309)
1996
22
Recurrent leg ulcerations as the initial clinical manifestation of Klinefelter's syndrome. (7857129)
1995
23
Leg ulcers and Klinefelter's syndrome. (7632073)
1995
24
Somatoform pain disorder in a case of Klinefelter's syndrome with multiply operated lower back. (8726112)
1995
25
Increased plasma activity of plasminogen activator inhibitor 1 (PAI-1) in two patients with Klinefelter's syndrome complicated by leg ulcers. (8204473)
1994
26
Lupus anticoagulant and Klinefelter's syndrome. (8336331)
1993
27
Occurrence of Duchenne dystrophy in Klinefelter's syndrome. (8259881)
1993
28
MRI and SPECT of Klinefelter's syndrome with various neuropsychiatric symptoms: a case report. (7911167)
1993
29
Systemic lupus erythematosus and Klinefelter's syndrome. (3337126)
1988
30
Incontinentia pigmenti in a boy with Klinefelter's syndrome. (3612722)
1987
31
Biologically active luteinizing hormone (LH) in Klinefelter's syndrome: response to gonadotropin-releasing hormone (GnRH) and effects of testosterone undecanoate. (3318557)
1987
32
A case of Klinefelter's syndrome associated with hypothalamic-pituitary dysfunction caused by an intracranial germ cell tumor. (2440666)
1987
33
Mediastinal teratoma associated with Klinefelter's syndrome. (3778123)
1986
34
Psychologic follow-up of personality factors in the chromosomal anomaly of Klinefelter's syndrome. (3721769)
1986
35
Klinefelter's syndrome, cerebral germinoma, Chiari malformation, and syrinx: a case report. (2421193)
1986
36
Benign mediastinal teratoma associated with Klinefelter's syndrome. (4032867)
1985
37
Hypostatic ulcers in 47,XXY Klinefelter's syndrome. (6842542)
1983
38
Receptivity disorders in gonadal dysgeneses. i. Klinefelter's syndrome. (6844859)
1983
39
Testicular function in Klinefelter's syndrome. (7441832)
1980
40
A case of Klinefelter's syndrome with 47, Xi(Xq)Y karyotype. (7189784)
1980
41
Chromatin-negative Klinefelter's syndrome with focal megalencephaly. (6258377)
1980
42
XXY Klinefelter's syndrome with bilateral cryptochidism, obesity, multiple capillary hemangiomas and telangiectasia. (23441)
1978
43
Glycogen and phosphorylase in Klinefelter's syndrome: a histochemical study. (700035)
1978
44
Basal and human chorionic gonadotropin-stimulated 17 alpha-hydroxyprogesterone and testosterone levels in Klinefelter's syndrome. (263344)
1978
45
Klinefelter's syndrome and incontinentia pigmenti Bloch-Sulzberger. (844872)
1977
46
Twenty psychotic males with Klinefelter's syndrome. (920226)
1977
47
Klinefelter's syndrome and bladder cancer. (1003671)
1976
48
Bone mass in men with Klinefelter's syndrome and in normal subjects, estimated by the cortical thickness of bone. (1149321)
1975
49
Chromatin-positive Klinefelter's syndrome with undetectable peripheral FSH levels. (1166860)
1975
50
LH and FSH response to synthetic LH-RH in children and adolescents with Turner's and Klinefelter's syndrome. (1102496)
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