MCID: KLN001
MIFTS: 66

Klinefelter's Syndrome malady

Genetic category

Summaries for Klinefelter's Syndrome

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 34MedlinePlus, 64Wikipedia, 33MalaCards
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NIH Rare Diseases:43 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 kallmann syndrome and infertility. 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 brain, spinal cord and kidney, 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:34 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:64 Klinefelter syndrome or Klinefelter\'s syndrome is the set of symptoms resulting from additional X... more...

Aliases & Classifications for Klinefelter's Syndrome

Sources:
8Disease Ontology, 64Wikipedia, 43NIH Rare Diseases, 22GTR, 21Genetics Home Reference, 10DISEASES, 45Novoseek, 34MedlinePlus, 61UMLS, 57SNOMED-CT, 40NCIt, 35MeSH, 27ICD9CM, 25ICD10
See all sources

Classifications:

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


Aliases & Descriptions:

klinefelter's syndrome 8 43 21 34
klinefelter syndrome 64 43 21 61
xxy syndrome 8 64 43 21
xxy trisomy 8 64 43 21
hypogonadotropic hypogonadism 8 22 61
klinefelters syndrome 10 45
47, xxy 43
47 xxy 43
47,xxy 64


External Ids:

Disease Ontology8 DOID:1921
NCIt40 C34752
ICD9CM27 758.7
ICD1025 Q98.4

Related Diseases for Klinefelter's Syndrome

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 268)
idRelated DiseaseScoreTop Affiliating Genes
1kallmann syndrome31.2GNRH1, GNRHR, KAL1, CGA, FGFR1, KISS1R
2infertility30.6CFTR, DAZ4, INHA, CYP21A2, CYP19A1, SHBG
3precocious puberty30.5KISS1, CYP21A2, CYP19A1, SHBG, CGA, GNRHR
4germinoma30.2INHA, CYP21A2, CGB, CGA
5turner syndrome30.2CGA, CGB, SHBG, CYP21A2
6amenorrhea30.1SHBG, GNRH1
7renal agenesis30.1KAL1, CFTR
8hyperprolactinemia30.1GNRH1, CGA, CGB, SHBG, SRD5A1
9adenocarcinoma30.1GNRHR, AR, MECP2, CGB, CYP21A2, FGFR1
10azoospermia30.1AZF1, GNRH1, AR, CGA, SHBG, CYP21A2
11ectopic pregnancy30.1CGA, CGB
12cryptorchidism30.1CGA, AR, KAL1, GNRH1, AZF1, SHBG
13insulin resistance30.1CYP21A2, SHBG
14hypospadias29.9AR, CGA, CYP21A2, SRD5A1
15cleft palate29.9FGFR1
16short stature29.9GNRH1, SHBG, CYP19A1, CYP21A2
17gynecomastia29.9SRD5A1, INHA, CYP19A1, SHBG, CGA, AR
18teratoma29.9FGFR1, CGB, CGA
19n syndrome10.6
20hypogonadotropic hypogonadism 9 with or without anosmia10.6
21hypogonadotropic hypogonadism 17 with or without anosmia10.6
22hypogonadotropic hypogonadism 2 with or without anosmia10.6
23hypogonadotropic hypogonadism 8 with or without anosmia10.6
24cerebellar ataxia and hypogonadotropic hypogonadism10.6
25hypogonadotropic hypogonadism 13 with or without anosmia10.6
26hypogonadotropic hypogonadism 15 with or without anosmia10.6
27hypogonadotropic hypogonadism 4 with or without anosmia10.6
28hypogonadotropic hypogonadism 18 with or without anosmia10.6
29hypogonadotropic hypogonadism 7 with or without anosmia10.6
30hypogonadotropic hypogonadism 11 with or without anosmia10.6
31hypogonadotropic hypogonadism 16 with or without anosmia10.6
32hypogonadotropic hypogonadism 20 with or without anosmia10.6
33hypogonadotropic hypogonadism 12 with or without anosmia10.6
34hypogonadotropic hypogonadism 6 with or without anosmia10.6
35hypogonadotropic hypogonadism 14 with or without anosmia10.6
36hypogonadotropic hypogonadism 10 with or without anosmia10.6
37hypogonadotropic hypogonadism 19 with or without anosmia10.6
38hypogonadotropic hypogonadism 3 with or without anosmia10.6
39hypogonadotropic hypogonadism 21 with anosmia10.6
40hypogonadotropic hypogonadism 1 with or without anosmia10.6
41pol iii-related leukodystrophies10.5
42hypogonadotropic hypogonadism 5 with or without anosmia10.5
43isolated gonadotropin-releasing hormone deficiency10.5
44aicardi syndrome10.4
45char syndrome10.4
46ataxia10.4
47ataxia - hypogonadism - choroidal dystrophy10.4
48premature ejaculation10.3
49hyposmia - nasal and ocular hypoplasia - hypogonadotropic hypogonadism10.3
50hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome10.3

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



Diseases related to klinefelter's syndrome

Clinical Features for Klinefelter's Syndrome

Drugs & Therapeutics for Klinefelter's Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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

Sources:
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

Sources:
33MalaCards
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MalaCards organs/tissues related to Klinefelter's Syndrome:

33
Brain, Spinal cord, Kidney, Liver, Lung, Thyroid, Breast, Skin, Prostate, Testis, Myeloid, T cells, B lymphoblasts, B cells, Endothelial, Fetal brain, Medulla oblongata, Fetal liver, Fetal lung, Fetal thyroid, Pituitary, Testis germ, Testis leydig

Animal Models for Klinefelter's Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Klinefelter's Syndrome

Sources:
51PubMed
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Articles related to Klinefelter's Syndrome:

(show top 50)    (show all 596)
idTitleAuthorsYear
1
High circulating levels of CCL2 in patients with Klinefelter's syndrome. (23663065)
2014
2
Klinefelter's syndrome complicated with West syndrome in a 4-month-old boy. (21470806)
2012
3
Criminality in men with Klinefelter's syndrome and XYY syndrome: a cohort study. (22357573)
2012
4
Expression of selected genes escaping from X inactivation in the 41, XX(Y)* mouse model for Klinefelter's syndrome. (21241365)
2011
5
Novel genetic aspects of Klinefelter's syndrome. (20228051)
2010
6
Clinical and therapeutic aspects of Klinefelter's syndrome: sexual function. (20348547)
2010
7
Sexual dysfunction in subjects with Klinefelter's syndrome. (19780865)
2010
8
Strategies and advantages of early diagnosis in Klinefelter's syndrome. (20392711)
2010
9
Effect of sex hormone treatment on circulating adiponectin and subforms in Turner and Klinefelter syndrome. (20100236)
2010
10
Congenital diaphragmatic hernia and Klinefelter's syndrome. (19821676)
2009
11
Parkinson's syndrome in a young patient with Klinefelter's syndrome--a case report. (18265006)
2008
12
Successful treatment of a patient with Klinefelter's syndrome complicated by mediastinal germ cell tumor and AML(M7). (18223696)
2008
13
Combined persistent Mullerian Duct Syndrome, Transverse Testicular Ectopia and Mosaic Klinefelter's Syndrome. (18760051)
2008
14
21-hydroxylase deficiency and klinefelter syndrome in an adult man: striking a balance between androgen excess and insufficiency. (18772490)
2008
15
Dysregulation of X-linked gene expression in Klinefelter's syndrome and association with verbal cognition. (17347996)
2007
16
Double paternal nondisjunction in an infant with transient neonatal diabetes mellitus and Klinefelter syndrome. (17366578)
2007
17
Rheumatic diseases and Klinefelter's syndrome. (16544736)
2006
18
True hermaphroditism with characteristics of Klinefelter's syndrome: a rare presentation. (16042329)
2005
19
Klinefelter's syndrome (XXY) as a genetic model for psychotic disorders. (15729733)
2005
20
Graves' disease associated with Klinefelter's syndrome. (15119010)
2004
21
Klinefelter's syndrome. (15262106)
2004
22
Abnormal cerebral asymmetry and schizophrenia in a subject with Klinefelter's syndrome (XXY). (12679243)
2003
23
The pituitary-testicular axis in Klinefelter's syndrome and in oligo-azoospermic patients with and without deletions of the Y chromosome long arm. (12864799)
2003
24
Testicular tissue extraction in a young male with 47,XXY Klinefelter's syndrome: potential strategy for preservation of fertility. (11704135)
2001
25
Plasma melatonin concentration before and during testosterone replacement in Klinefelter's syndrome: relation to hepatic indolamine metabolism and sympathoadrenal activity. (11158039)
2001
26
Ejaculated spermatozoa in patients with non-mosaic Klinefelter's syndrome. (10750887)
2000
27
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
28
Central precocious puberty in 48,XXYY Klinefelter syndrome variant. (10821227)
1999
29
Androgen replacement in the treatment of Klinefelter's syndrome: efficacy and safety of a nonscrotal permeation-enhanced testosterone transdermal system. (15251759)
1998
30
A prolactin-secreting tumor in a patient with Klinefelter's syndrome: a case report. (8862506)
1996
31
Recurrent leg ulcerations as the initial clinical manifestation of Klinefelter's syndrome. (7857129)
1995
32
Bipolar disorder associated with Klinefelter's syndrome and other chromosomal abnormalities. (8134527)
1994
33
The influence of testosterone substitution on bone mineral density in patients with Klinefelter's syndrome. (1305064)
1992
34
Vasculitis in Klinefelter's syndrome. (1466610)
1992
35
Suprasellar tumors of maldevelopmental origin in Klinefelter's syndrome. A report of two cases. (1401166)
1992
36
Klinefelter's syndrome associated with progressive systemic sclerosis: report of a case and review of the literature. (2065514)
1991
37
Klinefelter's syndrome with anomalous origin of left main coronary artery. (2208251)
1990
38
Klinefelter's syndrome and scleroderma. (2625699)
1989
39
Klinefelter's syndrome: an analysis of the origin of the additional sex chromosome using molecular probes. (2907853)
1988
40
Variation studies of fingerprints in XXY Klinefelter's syndrome. (3583779)
1987
41
Vascular abnormality in Klinefelter's syndrome? (6125655)
1982
42
Klinefelter's syndrome with atypical presenting features. (7317870)
1981
43
Hypostatic leg ulceration and Klinefelter's syndrome. (7411595)
1980
44
Testicular function in Klinefelter's syndrome. (7441832)
1980
45
A case of Klinefelter's syndrome with 47, Xi(Xq)Y karyotype. (7189784)
1980
46
Congenital hypothyroidism and Klinefelter's syndrome. (7205914)
1980
47
Klinefelter's syndrome: sexual development and activity. (475580)
1979
48
Klinefelter's syndrome and leg ulceration. (465329)
1979
49
Palmar dermatoglyphics of the patients with Klinefelter's syndrome (47,XXY). (732021)
1978
50
CYTOGENETIC AND PSYCHOSEXUAL AMBIGUITY; KLINEFELTER'S SYNDROME AND TRANSVESTISM COMPARED. (14209741)
1964

Genetic Variations for Klinefelter's Syndrome

Expression for genes affiliated with Klinefelter's Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
54Reactome, 38NCBI BioSystems Database, 12EMD Millipore, 30KEGG
See all sources

Compounds for genes affiliated with Klinefelter's Syndrome

Sources:
45Novoseek, 60Tocris Bioscience, 29IUPHAR, 11DrugBank, 24HMDB, 50PharmGKB, 2BitterDB
See all sources

Compounds related to Klinefelter's Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 137)
idCompoundScoreTop Affiliating Genes
1estrogen4510.9SRD5A1
2androstenediol4510.6SRD5A1, CYP19A1, SHBG, AR
3nafarelin45 60 29 1113.6GNRH1, GNRHR, CGA, CYP19A1, CYP21A2
4danazol45 11 2412.6GNRH1, GNRHR, AR, SHBG, CYP19A1
5leuprolide45 60 29 1113.6GNRH1, GNRHR, AR, CGA, SRD5A1
65alpha-androstane-3alpha,17beta-diol4510.6AR, SHBG, CYP19A1, SRD5A1
7spironolactone50 45 60 29 1114.6GNRH1, AR, SHBG, CYP21A2, SRD5A1
8clomiphene citrate4510.6GNRH1, CGA, CGB, SHBG, CYP19A1, CYP21A2
9leuprolide acetate4510.6GNRH1, GNRHR, CGA, SHBG, CYP19A1, CYP21A2
10cyproteroneacetate4510.6SRD5A1, CYP19A1, SHBG, AR, GNRH1
11hydroxyflutamide45 2911.6AR, CGA, SHBG, SRD5A1
12Drostanolone1110.6CYP19A1, SHBG, AR
13antarelix45 2911.6GNRHR, GNRH1, CGA
14diethylstilbestrol45 29 1112.6GNRH1, AR, CGA, SHBG, CYP19A1
15ketoconazole45 29 11 2413.6AR, SHBG, CYP19A1, CYP21A2, SRD5A1
16buserelin45 29 1112.6GNRH1, GNRHR, CGA, CYP19A1
1717beta-hydroxysteroid4510.6AR, CGA, CYP19A1, CYP21A2, SRD5A1
18goserelin45 29 1112.6GNRH1, GNRHR, CGA, SHBG, CYP19A1, SRD5A1
19finasteride45 60 11 2413.6AR, SHBG, CYP19A1, SRD5A1
203beta-hydroxysteroid4510.6AR, CGA, CYP19A1, CYP21A2, INHA, SRD5A1
2117-hydroxyprogesterone45 2411.6GNRH1, CGA, SHBG, CYP19A1, CYP21A2, SRD5A1
22progestins4510.6GNRH1, AR, SHBG, CYP19A1, SRD5A1
23flutamide45 60 1112.5GNRH1, AR, CGA, SHBG, CYP19A1, SRD5A1
24mifepristone45 60 29 1113.5GNRH1, AR, CGA, CGB, SHBG, CYP19A1
25exemestane50 45 60 1113.5SRD5A1, CYP19A1, SHBG, AR
26epitestosterone4510.5CGA, SHBG, SRD5A1
27dehydroepiandrosterone sulfate4510.5GNRH1, AR, CGA, SHBG, CYP19A1, CYP21A2
28acyline4510.5GNRH1, GNRHR, SRD5A1
29progestin4510.5GNRH1, AR, CGA, SHBG, CYP19A1, SRD5A1
30glutamate4510.5GNRH1, AR, MECP2, CGA, CYP21A2
31ganirelix45 2911.5CGA, GNRHR, GNRH1
32dihydrotestosterone45 29 11 2413.5GNRH1, GNRHR, AR, CGA, SHBG, CYP19A1
33androstenedione45 2411.5GNRH1, AR, CGA, CGB, SHBG, CYP19A1
34tamoxifen45 50 29 1113.4GNRH1, GNRHR, AR, CGA, SHBG, HBB
35dhea4510.4AR, SHBG, CYP19A1, CYP21A2, SRD5A1
36estradiol45 11 2412.4GNRH1, GNRHR, AR, CGA, CGB, SHBG
37letrozole45 50 60 1113.4CYP19A1, SHBG, CGA, AR
38adenylate4510.3GNRH1, GNRHR, AR, CGA, SHBG, HBB
39arginine4510.3GNRH1, GNRHR, AR, MECP2, CGA, SHBG
40alanine4510.3GNRH1, GNRHR, MECP2, CGA, CGB, SHBG
41levonorgestrel45 60 29 1113.3AR, SHBG, CYP19A1, SRD5A1
42d-trp6-lhrh4510.3GNRH1, GNRHR, CGA
43progesterone45 60 29 11 2414.3CGB, CGA, AR, GNRHR, GNRH1, SHBG
44genistein45 29 60 2 11 2415.2AR, SHBG, CYP19A1, CYP21A2, FGFR1, CFTR
45steroid4510.2HBB, CYP19A1, CYP21A2, FGFR1, INHA, KISS1
46ment4510.2SHBG, CYP19A1, SRD5A1
47estrone45 29 11 2413.2SRD5A1, CYP19A1, SHBG, AR, GNRH1
48gnrh4510.1GNRH1, GNRHR, KAL1, AR, CGA, CGB
49testosterone45 60 11 2413.1SRD5A1, CGA, CGB, SHBG, IGFL3, CYP19A1
50formestane4510.0SHBG, CYP19A1, SRD5A1

GO Terms for genes affiliated with Klinefelter's Syndrome

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
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Sources for Klinefelter's Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet