Hutchinson-Gilford Progeria malady
Categories: Genetic diseases, Rare diseases, Eye diseases, Bone diseases, Skin diseases, Fetal diseases
11Disease Ontology, 12diseasecard, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 26GTR, 29ICD10, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 44NCIt, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 61SNOMED-CT, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot, 70Wikipedia
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Aliases & Descriptions for Hutchinson-Gilford Progeria:
Orphanet epidemiological data:53
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal
Inheritance: autosomal dominant inheritance
Penetrance: penetrance is complete...
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Eye diseases, Bone diseases, Skin diseases
ICD10: 30 29
Rare eye diseases
Rare bone diseases
Rare skin diseases
Developmental anomalies during embryogenesis
OMIM:51 Hutchinson-Gilford progeria syndrome is a rare disorder characterized by short stature, low body weight, early loss of... (176670) more...
MalaCards based summary: Hutchinson-Gilford Progeria, also known as progeria, is related to mandibuloacral dysplasia and nestor-guillermo progeria syndrome, and has symptoms including abnormality of the genital system, narrow face and micrognathia. An important gene associated with Hutchinson-Gilford Progeria is LMNA (Lamin A/C), and among its related pathways are DNA damage_NHEJ mechanisms of DSBs repair and Granzyme Pathway. Affiliated tissues include skin, bone and eye, and related mouse phenotypes are hearing/vestibular/ear and liver/biliary system.
Genetics Home Reference:25 Hutchinson-Gilford progeria syndrome is a genetic condition characterized by the dramatic, rapid appearance of aging beginning in childhood. Affected children typically look normal at birth and in early infancy, but then grow more slowly than other children and do not gain weight at the expected rate (failure to thrive). They develop a characteristic facial appearance including prominent eyes, a thin nose with a beaked tip, thin lips, a small chin, and protruding ears. Hutchinson-Gilford progeria syndrome also causes hair loss (alopecia), aged-looking skin, joint abnormalities, and a loss of fat under the skin (subcutaneous fat). This condition does not affect intellectual development or the development of motor skills such as sitting, standing, and walking.
UniProtKB/Swiss-Prot:69 Hutchinson-Gilford progeria syndrome: Rare genetic disorder characterized by features reminiscent of marked premature aging.
Wikipedia:70 Progeria is an extremely rare genetic disorder in which symptoms resembling aspects of aging are... more...
GeneReviews for NBK1121
Diseases related to Hutchinson-Gilford Progeria via text searches within MalaCards or GeneCards Suite gene sharing:(show all 21)
Graphical network of the top 20 diseases related to Hutchinson-Gilford Progeria:
Human phenotypes related to Hutchinson-Gilford Progeria:63 53 (show all 123)
Drugs for Hutchinson-Gilford Progeria (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 20)
Interventional clinical trials:
Search NIH Clinical Center for Hutchinson-Gilford Progeria
MalaCards organs/tissues related to Hutchinson-Gilford Progeria:35
Skin, Bone, Eye, Cortex, Heart, Smooth muscle
Articles related to Hutchinson-Gilford Progeria:(show top 50) (show all 199)
UniProtKB/Swiss-Prot genetic disease variations for Hutchinson-Gilford Progeria:69
Clinvar genetic disease variations for Hutchinson-Gilford Progeria:5 (show all 18)
Search GEO for disease gene expression data for Hutchinson-Gilford Progeria.
Pathways related to Hutchinson-Gilford Progeria according to GeneCards Suite gene sharing:
Cellular components related to Hutchinson-Gilford Progeria according to GeneCards Suite gene sharing:
Biological processes related to Hutchinson-Gilford Progeria according to GeneCards Suite gene sharing:(show all 7)
Molecular functions related to Hutchinson-Gilford Progeria according to GeneCards Suite gene sharing:
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet