Simpson-Golabi-Behmel Syndrome, Type 1 malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Nephrological diseases, Fetal diseases, Mental diseases
11Disease Ontology, 12diseasecard, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 26GTR, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 44NCIt, 47NIH Rare Diseases, 51OMIM, 53Orphanet, 61SNOMED-CT, 63The Human Phenotype Ontology, 67UMLS, 69UniProtKB/Swiss-Prot
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Aliases & Descriptions for Simpson-Golabi-Behmel Syndrome, Type 1:
Orphanet epidemiological data:53
Inheritance: X-linked recessive; Age of onset: Antenatal,Neonatal
simpson-golabi-behmel syndrome, type 1:
Inheritance: x-linked recessive inheritance
Penetrance: to date, all males with a gpc3 mutation have had clinical findings of sgbs1 [authors, personal observation]...
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Neuronal diseases, Nephrological diseases, Mental diseases
Rare neurological diseases
Rare renal diseases
Developmental anomalies during embryogenesis
Genetics Home Reference:25 Simpson-Golabi-Behmel syndrome is a condition that affects many parts of the body and occurs primarily in males. This condition is classified as an overgrowth syndrome, which means that affected infants are considerably larger than normal at birth (macrosomia) and continue to grow and gain weight at an unusual rate. The other signs and symptoms of Simpson-Golabi-Behmel syndrome vary widely. The most severe cases are life-threatening before birth or in infancy, whereas people with milder cases often live into adulthood.
MalaCards based summary: Simpson-Golabi-Behmel Syndrome, Type 1, also known as simpson-golabi-behmel syndrome, is related to simpson-golabi-behmel syndrome, type 2 and gpc3-related simpson-golabi-behmel syndrome type 1, and has symptoms including multicystic kidney dysplasia, cryptorchidism and tall stature. An important gene associated with Simpson-Golabi-Behmel Syndrome, Type 1 is GPC3 (Glypican 3), and among its related pathways are Non-Canonical Wnt Pathway and Metabolism of fat-soluble vitamins. Affiliated tissues include heart, kidney and tongue.
Disease Ontology:11 An X-linked disease characterized by pre- and postnatal overgrowth and craniofacial, skeletal, cardiac and renal abnormalities.
OMIM:51 Simpson-Golabi-Behmel syndrome is an X-linked condition characterized by pre- and postnatal overgrowth, coarse facies,... (312870) more...
UniProtKB/Swiss-Prot:69 Simpson-Golabi-Behmel syndrome 1: A condition characterized by pre- and postnatal overgrowth (gigantism), facial dysmorphism and a variety of inconstant visceral and skeletal malformations. Characteristic dysmorphic features include macrocephaly with coarse, distinctive facies with a large protruding jaw, broad nasal bridge and cleft palate. Cardiac defects are frequent.
GeneReviews for NBK1219
Human phenotypes related to Simpson-Golabi-Behmel Syndrome, Type 1:63 53 (show all 124)
MalaCards organs/tissues related to Simpson-Golabi-Behmel Syndrome, Type 1:35
Heart, Kidney, Tongue, Pancreatic islet, Pancreas, Lung, Skin
Articles related to Simpson-Golabi-Behmel Syndrome, Type 1:
UniProtKB/Swiss-Prot genetic disease variations for Simpson-Golabi-Behmel Syndrome, Type 1:69
Clinvar genetic disease variations for Simpson-Golabi-Behmel Syndrome, Type 1:5 (show all 11)
Search GEO for disease gene expression data for Simpson-Golabi-Behmel Syndrome, Type 1.
Pathways related to Simpson-Golabi-Behmel Syndrome, Type 1 according to GeneCards Suite gene sharing:
Cellular components related to Simpson-Golabi-Behmel Syndrome, Type 1 according to GeneCards Suite gene sharing:
Biological processes related to Simpson-Golabi-Behmel Syndrome, Type 1 according to GeneCards Suite gene sharing:
Molecular functions related to Simpson-Golabi-Behmel Syndrome, Type 1 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