|
MCID: 48X002
MIFTS: 22
|
48,xxxy Syndrome
Categories:
Endocrine diseases, Fetal diseases, Neuronal diseases, Rare diseases, Reproductive diseases
|
|
|
|
MalaCards integrated aliases for 48,xxxy Syndrome:
Characteristics:Orphanet epidemiological data:60
48,xxxy syndrome
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal; Age of death: any age; Classifications:
MalaCards categories:
Global: Rare diseases Fetal diseases Anatomical: Neuronal diseases Reproductive diseases Endocrine diseases
ICD10:
35
Orphanet: 60
Rare neurological diseases
Rare infertility disorders
Rare endocrine diseases
Developmental anomalies during embryogenesis
|
|
NIH Rare Diseases
:
54
48,XXXY syndrome is a type of chromosome abnormality characterized by the presence of 2 extra X chromosomes in males. It is sometimes referred to as a variant of Klinefelter syndrome, but differs from Klinefelter syndrome in many ways and is more severe. Signs and symptoms of 48,XXXY syndrome can vary but may include learning difficulties; intellectual disability; low muscle tone (hypotonia); hypogonadism; delayed growth; distinctive facial features; and a variety of birth defects that may affect the genital and musculoskeletal systems. Many also have poorly developed social skills and delayed language development. This condition is not inherited and likely results from a random error in cell division. Treatment depends on the features in each individual and often involves the coordinated efforts of a multidisciplinary team of specialists.
MalaCards based summary : 48,xxxy Syndrome, also known as xxxy syndrome, is related to hypogonadotropic hypogonadism and 47, xxy. Affiliated tissues include heart, and related phenotypes are global developmental delay and intellectual disability, mild Genetics Home Reference : 26 48,XXXY syndrome is a chromosomal condition in boys and men that causes intellectual disability, developmental delays, physical differences, and an inability to father biological children (infertility). Its signs and symptoms vary among affected individuals. Wikipedia : 77 XXXY syndrome is a genetic condition characterized by a sex chromosome aneuploidy, where males have two... more... |
Diseases related to 48,xxxy Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:
|
Human phenotypes related to 48,xxxy Syndrome:60 33 (show top 50) (show all 63)
|
|
|
MalaCards organs/tissues related to 48,xxxy Syndrome:42
Heart
|
Articles related to 48,xxxy Syndrome:
|
|
|
|
Search
GEO
for disease gene expression data for 48,xxxy Syndrome.
|
|
|
|