Aarskog-Scott Syndrome malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Skin diseases, Fetal diseases
50OMIM, 11Disease Ontology, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 48Novoseek, 37MeSH, 66UMLS, 28ICD10, 29ICD10 via Orphanet, 67UMLS via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
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Aliases & Descriptions for Aarskog-Scott Syndrome:
Orphanet epidemiological data:52
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Childhood; Age of death: any age
Inheritance: x-linked recessive inheritance
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Neuronal diseases, Skin diseases
ICD10: 29 28
Rare neurological diseases
Rare skin diseases
Developmental anomalies during embryogenesis
OMIM:50 Aarskog-Scott syndrome, also known as faciogenital dysplasia, is an X-linked disorder characterized by short stature,... (305400) more...
MalaCards based summary: Aarskog-Scott Syndrome, also known as aarskog syndrome, is related to amyloidosis aa and helsmoortel-van der aa syndrome, and has symptoms including shawl scrotum, everted lower lip vermilion and hypertelorism. An important gene associated with Aarskog-Scott Syndrome is FGD1 (FYVE, RhoGEF And PH Domain Containing 1), and among its related pathways are Nectin adhesion pathway and Adherens junction. Affiliated tissues include heart, skin and endothelial.
Disease Ontology:11 A monogenic disease affects a person's height, muscles, skeleton, genitals, and appearance of the face.
NIH Rare Diseases:46 Aarskog syndrome is an inherited disease that affects a person's height, muscles, skeleton, genitals, and appearance of the face. intellectual development may also be affected. about 20 percent of people with aarskog-scott syndrome have mutations in the fgd1 gene. the cause in other affected individuals is unknown. the condition is inherited in an x-linked recessive pattern. last updated: 9/7/2011
UniProtKB/Swiss-Prot:68 Aarskog-Scott syndrome: A rare multisystemic disorder characterized by disproportionately short stature, and by facial, skeletal and urogenital anomalies. Some patients manifest mental retardation, attention deficit disorder and hyperactivity.
Genetics Home Reference:24 Aarskog-Scott syndrome is a genetic disorder that affects the development of many parts of the body. This condition mainly affects males, although females may have mild features of the syndrome.
Symptoms by clinical synopsis from OMIM:305400
Clinical features from OMIM:305400
Symptoms:52 (show all 49)
HPO human phenotypes related to Aarskog-Scott Syndrome:(show all 82)
MalaCards organs/tissues related to Aarskog-Scott Syndrome:34
Heart, Skin, Endothelial
Articles related to Aarskog-Scott Syndrome:(show all 31)
UniProtKB/Swiss-Prot genetic disease variations for Aarskog-Scott Syndrome:68
Clinvar genetic disease variations for Aarskog-Scott Syndrome:5 (show all 18)
Search GEO for disease gene expression data for Aarskog-Scott Syndrome.
Pathways related to Aarskog-Scott Syndrome according to GeneCards Suite gene sharing:
Cellular components related to Aarskog-Scott Syndrome according to GeneCards Suite gene sharing:
Biological processes related to Aarskog-Scott Syndrome according to GeneCards Suite gene sharing:(show all 9)
Molecular functions related to Aarskog-Scott Syndrome according to GeneCards Suite gene sharing:
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet