Wilson-Turner Syndrome malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Endocrine diseases, Fetal diseases, Mental diseases, Metabolic diseases
Aliases & Descriptions for Wilson-Turner Syndrome:
Orphanet epidemiological data:53
Inheritance: X-linked dominant,X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood
Global: Genetic diseases, Rare diseases, Fetal diseases, Metabolic diseases
Anatomical: Neuronal diseases, Endocrine diseases, Mental diseases
Rare neurological diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis
Disease Ontology:11 A syndromic X-linked intellectual disability characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature that has material basis in hemizygous mutation in the LAS1L gene (300964) on chromosome Xq12.
MalaCards based summary: Wilson-Turner Syndrome, also known as wts, is related to wt limb-blood syndrome and mental retardation, x-linked, syndromic, wilson-turner type, and has symptoms including obesity, gynecomastia and neurological speech impairment. An important gene associated with Wilson-Turner Syndrome is LAS1L (LAS1 Like, Ribosome Biogenesis Factor). Affiliated tissues include skin and eye.
UniProtKB/Swiss-Prot:69 Wilson-Turner X-linked mental retardation syndrome: A neurologic disorder characterized by severe intellectual disability, dysmorphic facial features, hypogonadism, short stature, and truncal obesity. Affected females have a milder phenotype than affected males.
OMIM:51 WTS is an X-linked neurologic disorder characterized by severe intellectual disability, dysmorphic facial features,... (309585) more...
Diseases related to Wilson-Turner Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:
Human phenotypes related to Wilson-Turner Syndrome:63 (show all 54)
MalaCards organs/tissues related to Wilson-Turner Syndrome:35
Articles related to Wilson-Turner Syndrome:
Search GEO for disease gene expression data for Wilson-Turner Syndrome.
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet