Simpson-golabi-behmel Syndrome

Description

Simpson-Golabi-Behmel syndrome (SGBS, also referred to as SGBS type 1) is a rare X-linked multiple congenital anomalies syndrome, characterized by pre- and postnatal overgrowth, distinctive craniofacial features, variable congenital malformations, organomegaly and an increased tumor risk.

Clinical Features

Top most frequent phenotypes and symptoms related to Simpson-golabi-behmel Syndrome

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Neoplasm
  • Micrognathia
  • Abnormal facial shape

And another 154 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Simpson-golabi-behmel Syndrome Is also known as sgbs, sgbs1, simpson-golabi-behmel syndrome type 1, golabi-rosen syndrome, sdys, x-linked dysplasia gigantism syndrome, dysplasia gigantism syndrome, x-linked, simpson dysmorphia syndrome, dgsx, bulldog syndrome.

Researches and researchers

Doctors, researchs, and experts related to Simpson-golabi-behmel Syndrome extracted from public data.

Simpson-golabi-behmel Syndrome Experts map



Current Researchs and researchers

  • ROMA — Pr Caterina CANCRINI

    Investigator of research project

    • Institution/s:
      — IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
    • Research area/topic::

      Study of the pathogenesis of autoimmune phenomena in primary immunodeficiencies



Mendelian

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Simpson-golabi-behmel Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hereditary Renal Cancer Panel.

By Baylor Miraca Genetics Laboratories (United States).

SDHA, SDHB, SDHC, SDHD, VHL, WT1, CDKN1C, SDHAF2, FLCN, FH, GPC3, MET, PTEN
Specificity
8 %
Genes
50 %
Comprehensive Hereditary Cancer Panel.

By Baylor Miraca Genetics Laboratories (United States).

RUNX1, SDHA, SDHB, SDHC, SDHD, BMPR1A, BRCA1, BRCA2, STK11, EPCAM, TP53, VHL, WT1, CBL, SUFU, CDC73, CDH1, CDK4, CDKN1C, CDKN2A , (...)

View the complete list with 39 more genes
Specificity
2 %
Genes
50 %
Epilepsy Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc (United States).

SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN8A, SCN9A, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMC1A, KDM5C, SMS , (...)

View the complete list with 214 more genes
Specificity
1 %
Genes
50 %
Epilepsy Advanced Sequencing and CNV Evaluation - Intellectual Disability.

By Athena Diagnostics Inc (United States).

SLC35A2, SLC6A8, SLC9A6, SMC1A, KDM5C, SMS, SNAP25, CDKL5, SYN1, SYP, CACNA2D1, PCDH19, ARHGEF9, DEAF1, CASK, ALG9, RAB39B, BCKDK, ARX, SPATA5 , (...)

View the complete list with 36 more genes
Specificity
2 %
Genes
50 %
NGS XLID Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RPL10, RPS6KA3, SLC16A2, SLC9A6, SMC1A, KDM5C, SMS, SOX3, CDKL5, SYN1, SYP, TAF1, TIMM8A, TSPAN7, MED12, UBE2A, USP9X, ZMYM3, ZNF41, ZNF711 , (...)

View the complete list with 94 more genes
Specificity
1 %
Genes
50 %
Lysosomal Storage Disease Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SGSH, SLC17A5, SMPD1, TCF4, MCOLN1, NPC2, ADAMTSL2, DNAJC5, SUMF1, TPP1, CLN3, CLN5, CLN6, CLN8, DYM, ANTXR2, COL11A2, PEX26, GNE, CTNS , (...)

View the complete list with 54 more genes
Specificity
2 %
Genes
50 %
NGS Overgrowth/Macrocephaly Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

MED12, NSD1, CDKN1C, PHF6, UPF3B, RNF135, CUL4B, DNMT3A, EZH2, GLI3, GPC3, NFIX, PTCH1, PTEN
Specificity
8 %
Genes
50 %
Test for Simpson-Golabi-Behmel Syndrome.

By Genome Diagnostics Laboratory University Medical Center Utrecht (Netherlands).

GPC3, GPC4
Specificity
100 %
Genes
100 %

We have 108 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Genetic Syndrome Finder

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