MCID: KLN001
MIFTS: 47

Klinefelter's Syndrome malady

Genetic diseases, Rare diseases categories

Summaries for Klinefelter's Syndrome

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NIH Rare Diseases:41 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 infertility and azoospermia. An important gene associated with Klinefelter's Syndrome is GNRHR (gonadotropin-releasing hormone receptor). The compounds gnrh and cyclic amp have been mentioned in the context of this disorder. Affiliated tissues include breast, testes and bone.

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:32 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 or Klinefelter\'s syndrome (KS) (/?kla?nf?lt?r/) also known as 47,XXY or XXY, is... more...

Aliases & Classifications for Klinefelter's Syndrome

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Klinefelter's Syndrome, Aliases & Descriptions:

Name: Klinefelter's Syndrome 9 41 21 32
Klinefelter Syndrome 9 63 41 21 60
Xxy Trisomy 9 63 41 21 60
Xxy Syndrome 9 63 41 21
Hypogonadotropic Hypogonadism 9 22 60
 
Klinefelters Syndrome 11 43
47, Xxy 41
47 Xxy 41
47,xxy 63


Classifications:

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


External Ids:

Disease Ontology9 DOID:1921
NCIt38 C34752
ICD9CM27 758.7
ICD1025 Q98.4

Related Diseases for Klinefelter's Syndrome

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

(show top 50)    (show all 185)
idRelated DiseaseScoreTop Affiliating Genes
1infertility30.4GNRHR, INSL3, AZF1, CGB
2azoospermia30.4AZF1, INSL3
3cryptorchidism30.3AZF1, INSL3
4turner syndrome29.9CGB, SHOX
5hypogonadotropism11.4
6kallmann syndrome10.9
7hypogonadotropic hypogonadism 2 with or without anosmia10.7
8cerebellar ataxia and hypogonadotropic hypogonadism10.7
9hypogonadotropic hypogonadism 9 with or without anosmia10.7
10hypogonadotropic hypogonadism 13 with or without anosmia10.7
11hypogonadotropic hypogonadism 11 with or without anosmia10.7
12hypogonadotropic hypogonadism 16 with or without anosmia10.7
13hypogonadotropic hypogonadism 12 with or without anosmia10.7
14hypogonadotropic hypogonadism 10 with or without anosmia10.7
15hypogonadotropic hypogonadism 8 with or without anosmia10.7
16hypogonadotropic hypogonadism 7 without anosmia10.7
17hypogonadotropic hypogonadism 1 with or without anosmia10.7
18hypogonadotropic hypogonadism 15 with or without anosmia10.6
19hypogonadotropic hypogonadism 4 with or without anosmia10.6
20hypogonadotropic hypogonadism 6 with or without anosmia10.6
21hypogonadotropic hypogonadism 3 with or without anosmia10.6
22hypogonadotropic hypogonadism with or without anosmia10.6
23hypogonadotropic hypogonadism 21 with anosmia10.6
24hypogonadotropic hypogonadism 18 with or without anosmia10.6
25hypogonadotropic hypogonadism 17 with or without anosmia10.6
26hypogonadotropic hypogonadism 20 with or without anosmia10.6
27hypogonadotropic hypogonadism 5 with or without anosmia10.6
28hypogonadotropic hypogonadism 14 with or without anosmia10.6
29hypogonadotropic hypogonadism 19 with or without anosmia10.6
30x-linked adrenal hypoplasia congenita10.6
31isolated gonadotropin-releasing hormone deficiency10.6
32obesity10.5
33pol iii-related leukodystrophies10.5
34ataxia10.5
35normosmic congenital hypogonadotropic hypogonadism10.5
36aicardi syndrome10.5
37leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism10.5
38leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism10.5
39boucher-neuhauser syndrome10.4
40cerebellar ataxia10.4
41adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism10.4
42hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome10.4
43premature ejaculation10.4
44gonadal dysgenesis10.4
45chang davidson carlson syndrome10.4
46hypogonadotropic hypogonadism without anosmia, x-linked10.4
47kallmann syndrome/ hypogonadotropic hypogonadism multi-gene panels10.4
48hypogonadotropic hypogonadism - frontoparietal alopecia10.4
49hyposmia - nasal and ocular hypoplasia - hypogonadotropic hypogonadism10.4
50möbius syndrome - axonal neuropathy - hypogonadotropic hypogonadism10.4

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



Diseases related to klinefelter's syndrome

Symptoms for Klinefelter's Syndrome

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Drugs & Therapeutics for Klinefelter's Syndrome

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Drug clinical trials:

Search ClinicalTrials for Klinefelter's Syndrome

Search NIH Clinical Center for Klinefelter's Syndrome

Genetic Tests for Klinefelter's Syndrome

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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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MalaCards organs/tissues related to Klinefelter's Syndrome:

31
Breast, Testes, Bone, Testis, Pituitary, Prostate, Thyroid, Brain, Skin, T cells, Endothelial, Spinal cord, Kidney, Liver, Lung, Myeloid, B cells

Animal Models for Klinefelter's Syndrome or affiliated genes

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Publications for Klinefelter's Syndrome

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Articles related to Klinefelter's Syndrome:

(show top 50)    (show all 504)
idTitleAuthorsYear
1
Twin Pregnancy Obtention of Patient with Nonmosaic Klinefelter's Syndrome and His Wife with Chromosome 9 Inversion by ICSI Treatment. (24520478)
2013
2
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
3
Klinefelter's syndrome--a diagnosis mislaid for 46 years. (23207500)
2012
4
Klinefelter's syndrome in a 5-year-old boy with behavioral disturbances and seizures. (22054630)
2011
5
Novel genetic aspects of Klinefelter's syndrome. (20228051)
2010
6
Osteoporosis in Klinefelter's syndrome. (20348548)
2010
7
Klinefelter's syndrome and rheumatoid arthritis: report of a case and review of the literature. (20374390)
2010
8
Juvenile Systemic Lupus Erythematosus associated with Klinefelter's syndrome: A case report. (21794715)
2010
9
Metabolic syndrome in men with Klinefelter's syndrome. (18455766)
2008
10
Parkinson's syndrome in a young patient with Klinefelter's syndrome--a case report. (18265006)
2008
11
Successful treatment of a patient with Klinefelter's syndrome complicated by mediastinal germ cell tumor and AML(M7). (18223696)
2008
12
Headache in a patient with Klinefelter's syndrome and hyperostosis frontalis interna. (18071629)
2007
13
The metabolic syndrome is frequent in Klinefelter's syndrome and is associated with abdominal obesity and hypogonadism. (16801584)
2006
14
Evaluation of insulin sensitivity in patients with Klinefelter's syndrome: a hyperinsulinemic euglycemic clamp study. (16077165)
2005
15
Can Biological or Clinical Parameters Predict Testicular Sperm Recovery in 47,XXY Klinefelter's Syndrome Patients? (15758782)
2005
16
True hermaphroditism with characteristics of Klinefelter's syndrome: a rare presentation. (16042329)
2005
17
A 47,XXY fetus conceived after ICSI of spermatozoa from a patient with non-mosaic Klinefelter's syndrome: case report. (10920107)
2000
18
Extragonadal germ cell tumor of the prostate associated with Klinefelter's syndrome. (10226829)
1999
19
Births after intracytoplasmic injection of sperm obtained by testicular extraction from men with nonmosaic Klinefelter's syndrome. (9475766)
1998
20
Bipolar affective disorder associated with Klinefelter's syndrome--a case report. (9409088)
1997
21
A prolactin-secreting tumor in a patient with Klinefelter's syndrome: a case report. (8862506)
1996
22
Retroperitoneal teratoma as first sign of Klinefelter's syndrome. (7702385)
1995
23
Recurrent leg ulcerations as the initial clinical manifestation of Klinefelter's syndrome. (7857129)
1995
24
Increased prolactin secretion and thyrotrophin response to thyrotrophin releasing hormone in Klinefelter's syndrome. (7755189)
1995
25
Seminoma of the testis in a patient with 48,XXYY variant of Klinefelter's syndrome. (2052972)
1991
26
Anorexia nervosa associated with Klinefelter's syndrome. (1935020)
1991
27
Klinefelter's syndrome and primary central nervous system lymphoma. (2184340)
1990
28
Klinefelter's syndrome. (2897563)
1988
29
Variation studies of fingerprints in XXY Klinefelter's syndrome. (3583779)
1987
30
Platelet hyperaggregability in a patient with Klinefelter's syndrome and leg ulcers. (3651329)
1987
31
Klinefelter's syndrome and extragonadal germ cell tumors. (3038295)
1987
32
Primary myelodysplastic syndrome with complex chromosomal rearrangements in a patient with Klinefelter's syndrome. (3712399)
1986
33
Gonadotropin secretion dynamics in patients with Klinefelter's syndrome in relation to age. (3937217)
1985
34
Klinefelter's syndrome and mitral valve prolapse. an echocardiographic study in twenty-two patients. (6743777)
1984
35
Suprasellar germinoma in association with Klinefelter's syndrome. Case report. (6847901)
1983
36
Hypostatic ulcers in 47,XXY Klinefelter's syndrome. (6842542)
1983
37
Leydig's and sertoli cells. Their fine structures in three cases of Klinefelter's syndrome. (6896133)
1982
38
Klinefelter's syndrome associated with systemic sclerosis. (7145800)
1982
39
Subarachnoid hemorrhage and Klinefelter's syndrome. (6124775)
1982
40
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
41
47,XXY Klinefelter's syndrome with low FSH and LH levels and absence of Leydig cells. (6778256)
1980
42
Testicular hypoplasia in a Hereford bull with 61,XXY karyotype: the bovine counterpart of human Klinefelter's syndrome. (7408494)
1980
43
Elevated testosterone-binding globulin in Klinefelter's syndrome. (6775001)
1980
44
Klinefelter's syndrome: sexual development and activity. (475580)
1979
45
Manic-depressive illness associated with Klinefelter's syndrome and essential tremors. (655296)
1978
46
Bone mass in men with Klinefelter's syndrome and in normal subjects, estimated by the cortical thickness of bone. (1149321)
1975
47
Lack of TRH-induced TSH secretion in a patient with Klinefelter's syndrome: a case report. (809259)
1975
48
The feedback effects of sex steroid hormones on pituitary gonadotropin release in Turner's syndrome and Klinefelter's syndrome. (50229)
1975
49
Chromatin-positive Klinefelter's syndrome with undetectable peripheral FSH levels. (1166860)
1975
50
X-Y chromosomal interchange in the aetiology of true hermaphroditism and of XX Klinefelter's syndrome. (4161595)
1966

Variations for Klinefelter's Syndrome

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Clinvar genetic disease variations for Klinefelter's Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1GNRHRNM_000406.2(GNRHR): c.842C> T (p.Thr281Ile)single nucleotide variantPathogenicrs515726220GRCh38Chr 4, 67740625: 67740625
2GNRHRNM_000406.2(GNRHR): c.94A> G (p.Thr32Ala)single nucleotide variantPathogenicrs515726219GRCh37Chr 4, 68619960: 68619960
3GNRHRNM_000406.2(GNRHR): c.392T> C (p.Met131Thr)single nucleotide variantPathogenicGRCh37Chr 4, 68619662: 68619662
4GNRHRNM_000406.2(GNRHR): c.806C> T (p.Thr269Met)single nucleotide variantPathogenicGRCh37Chr 4, 68606379: 68606379

Expression for genes affiliated with Klinefelter's Syndrome

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

Pathways for genes affiliated with Klinefelter's Syndrome

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Compounds for genes affiliated with Klinefelter's Syndrome

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Sources:
43Novoseek, 24HMDB, 59Tocris Bioscience, 12DrugBank
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Compounds related to Klinefelter's Syndrome according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1gnrh439.6CGB, GNRHR
2cyclic amp43 2410.0CGB, GNRHR, INSL3
3testosterone43 59 24 1212.0INSL3, GNRHR, CGB
4steroid438.9SHOX, GNRHR, INSL3
5alanine438.7CGB, GNRHR, INSL3
6estrogen438.5CGB, SHOX, GNRHR, INSL3

GO Terms for genes affiliated with Klinefelter's Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1cell-cell signalingGO:00072679.3CGB, INSL3

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

idNameGO IDScoreTop Affiliating Genes
1hormone activityGO:00051799.3CGB, INSL3

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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet