Simpson-golabi-behmel syndrome, type 1

Preferred Label : Simpson-golabi-behmel syndrome, type 1;

Symbol : SGBS1;

CISMeF acronym : DGSX; SDYS; SGBS; SGBS1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Bulldog syndrome; Simpson dysmorphia syndrome; Golabi-rosen syndrome; SDYS; DGSX; Dysplasia gigantism syndrome, X-linked; SGBS;

Description : Simpson-Golabi-Behmel syndrome is an X-linked condition characterized by pre- and postnatal overgrowth, coarse facies, congenital heart defects, and other congenital abnormalities (Xuan et al., 1999). It shows phenotypic similarities to Beckwith-Wiedemann syndrome (BWS; 130650), another overgrowth syndrome. See also Simpson-Golabi-Behmel syndrome type 2 (SGBS2; 300209), which has been associated with a mutation in the CXORF5 gene (300170) on chromosome Xp22.;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the glypican 3 gene (GPC3, 300037.0001);

Neoplasia : Embryonal tumors; Wilms tumor;

Prefixed ID : #312870;

Details

Origin ID

312870;

UMLS CUI

C0796154;

Automatic exact mappings (from CISMeF team)
- GPC3 wt Allele [NCIt concept]
- glypican 3 [ORDO Gene]
- glypican 3 [HGNC gene]
Currated CISMeF NLP mapping
- Simpson-Golabi-Behmel syndrome [PASCAL descriptor]
- Simpson-Golabi-Behmel syndrome [ICD-11 More detail]
- Simpson-Golabi-Behmel syndrome [MeSH concept]
- Simpson-Golabi-Behmel syndrome [MeSH Supplementary Concept]
- Simpson-Golabi-Behmel syndrome [ORDO Disease]
- Simpson-Golabi-Behmel syndrome (disorder) [SNOMED CT concept]
- Simpson-Golabi-Behmel syndrome type 1 [DO Concept]
DO Cross reference
- Simpson-Golabi-Behmel syndrome type 1 [DO Concept]
Genes related to phenotype
- Glypican 3 [OMIM gene]
HPO term(s)
- 2-3 finger syndactyly [HPO term]
- Abnormal lung lobation [HPO term]
- Abnormality of cardiac conduction [HPO term]
- Accelerated skeletal maturation [HPO term]
- Agenesis of corpus callosum [HPO term]
- Anal atresia [HPO term]
- Anterior creases of earlobe [HPO term]
- Anteverted nares [HPO term]
- Arrhythmia [HPO term]
- Atrial septal defect [HPO term]
- Birth length greater than 97th percentile [HPO term]
- Broad foot [HPO term]
- Broad forehead [HPO term]
- Broad palm [HPO term]
- Broad phalanges of the thumb [HPO term]
- Broad thumb [HPO term]
- Broad toe [HPO term]
- Cardiomyopathy [HPO term]
- Cerebellar vermis hypoplasia [HPO term]
- Cervical ribs [HPO term]
- Cleft palate [HPO term]
- Coarse facial features [HPO term]
- Congenital diaphragmatic hernia [HPO term]
- Cryptorchidism [HPO term]
- Delayed speech and language development [HPO term]
- Dental malocclusion [HPO term]
- Depressed nasal bridge [HPO term]
- Diastasis recti [HPO term]
- Downslanted palpebral fissures [HPO term]
- Duplication of renal pelvis [HPO term]
- Embryonal neoplasm [HPO term]
- Enlarged kidney [HPO term]
- Epicanthus [HPO term]
- Exaggerated median tongue furrow [HPO term]
- Facial hypotonia [HPO term]
- Flared iliac wing [HPO term]
- Flat, broad nasal bridge [HPO term]
- Gingival overgrowth [HPO term]
- Hearing impairment [HPO term]
- Hepatoblastoma [HPO term]
- Hepatomegaly [HPO term]
- Hydrocephalus [HPO term]
- Hydronephrosis [HPO term]
- Hypertelorism [HPO term]
- Hypertrichosis [HPO term]
- Hypospadias [HPO term]
- Hypotonia [HPO term]
- Inguinal hernia [HPO term]
- Intestinal malrotation [HPO term]
- Macrocephaly [HPO term]
- Macroglossia [HPO term]
- Mandibular prognathia [HPO term]
- Meckel diverticulum [HPO term]
- Metopic synostosis [HPO term]
- Motor delay [HPO term]
- Narrow greater sciatic notch [HPO term]
- Narrow palate [HPO term]
- Narrow sacroiliac notch [HPO term]
- Narrow sacroiliac notches in infancy [HPO term]
- Neonatal respiratory distress [HPO term]
- Nephroblastoma [HPO term]
- Overgrowth [HPO term]
- Pancreatic islet-cell hyperplasia [HPO term]
- Patent ductus arteriosus [HPO term]
- Pectus carinatum [HPO term]
- Pectus excavatum [HPO term]
- Polyhydramnios [HPO term]
- Polysplenia [HPO term]
- Postauricular pit [HPO term]
- Postaxial hand polydactyly [HPO term]
- Postaxial polydactyly [HPO term]
- Posterior helix pit [HPO term]
- Preauricular pit [HPO term]
- Preauricular skin tag [HPO term]
- Pulmonic stenosis [HPO term]
- Renal cyst [HPO term]
- Right ventricular hypertrophy [HPO term]
- Scoliosis [HPO term]
- Short broad hands [HPO term]
- Short distal phalanx of finger [HPO term]
- Short finger [HPO term]
- Short foot [HPO term]
- Short greater sciatic notch [HPO term]
- Short nail [HPO term]
- Short nose [HPO term]
- Short palm [HPO term]
- Short ribs [HPO term]
- Short sternum [HPO term]
- Six lumbar vertebrae [HPO term]
- Splenomegaly [HPO term]
- Submucous cleft lip [HPO term]
- Supernumerary nipple [HPO term]
- Talipes equinovarus [HPO term]
- Tall stature [HPO term]
- Thick vermilion border [HPO term]
- Total anomalous pulmonary venous return [HPO term]
- Transposition of the great arteries [HPO term]
- Trigonocephaly [HPO term]
- Two carpal ossification centers present at birth [HPO term]
- Umbilical hernia [HPO term]
- Upturned nose [HPO term]
- Ventricular septal defect [HPO term]
- Vertebral segmentation defect [HPO term]
- Wide intermamillary distance [HPO term]
- Wide mouth [HPO term]
- Wide nasal bridge [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- Simpson-Golabi-Behmel syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Bulldog syndrome [MedDRA LLT]
- Golabi-Rosen syndrome [MedDRA LLT]
- Simpson Golabi Behmel Syndrome Type 1 [NCIt concept]
- Simpson-Golabi-Behmel syndrome [MeSH Supplementary Concept]
- Simpson-Golabi-Behmel syndrome [MeSH concept]
- Simpson-Golabi-Behmel syndrome [ORDO Disease]
- Simpson-Golabi-Behmel syndrome [PASCAL descriptor]
- Simpson-Golabi-Behmel syndrome type 1 [DO Concept]
Validated automatic mappings to BTNT
- Simpson Golabi Behmel Syndrome Type 1 [NCIt concept]
Validated automatic mappings to NTBT
- Simpson-Golabi-Behmel Syndrome [NCIt concept]

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