Schinzel Giedion Syndrome (SGS) malady
Genetic diseases, Rare diseases, Neuronal diseases, Nephrological diseases, Skin diseases, Fetal diseases, Cancer diseases categories
NIH Rare Diseases:42 Schinzel-giedion syndrome is a rare genetic syndrome. common symptoms include kidney and urinary malformations, skeletal abnormalities, severe developmental delay, and a characteristic facial appearance. recurrent pneumonia, feeding intolerance, and seizures are frequent difficulties in the care of affected children. the underlying genetic defect that causes the condition has not yet been identified. last updated: 1/20/2009
MalaCards based summary: Schinzel Giedion Syndrome, also known as schinzel-giedion syndrome, is related to hydronephrosis and west syndrome, and has symptoms including abnormality of female external genitalia, vesicoureteral reflux and malar flattening. An important gene associated with Schinzel Giedion Syndrome is SETBP1 (SET binding protein 1). Affiliated tissues include bone, kidney and skin.
Genetics Home Reference:22 Schinzel-Giedion syndrome is a severe condition that is apparent at birth and affects many body systems. Signs and symptoms of this condition include distinctive facial features, neurological problems, and organ and bone abnormalities. Because of their serious health problems, most affected individuals do not survive past childhood.
OMIM:46 Schinzel-Giedion syndrome is a highly recognizable syndrome characterized by severe mental retardation, distinctive... (269150) more...
Schinzel Giedion Syndrome, Aliases & Descriptions:
Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Fetal diseases, Cancer diseases
Anatomical: Neuronal diseases, Nephrological diseases, Skin diseases
Rare neurological diseases
Rare renal diseases
Rare skin diseases
Developmental anomalies during embryogenesis
Characteristics (Orphanet epidemiological data):48
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy; Age of death: Child / adolescent
Diseases related to Schinzel Giedion Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:(show all 21)
Graphical network of the top 20 diseases related to Schinzel Giedion Syndrome:
Symptoms by clinical synopsis from OMIM:269150
Clinical features from OMIM:269150
Symptoms:48 (show all 71)
HPO human phenotypes related to Schinzel Giedion Syndrome:(show all 123)
MalaCards organs/tissues related to Schinzel Giedion Syndrome:32
Bone, Kidney, Skin, Testes, Tongue, Brain
Articles related to Schinzel Giedion Syndrome:(show all 43)
UniProtKB/Swiss-Prot genetic disease variations for Schinzel Giedion Syndrome:63
Clinvar genetic disease variations for Schinzel Giedion Syndrome:7
Search GEO for disease gene expression data for Schinzel Giedion Syndrome.
27ICD10 via Orphanet
35MESH via Orphanet
47OMIM via Orphanet
57SNOMED-CT via Orphanet
62UMLS via Orphanet