MEGF8 gene related symptoms and diseases

All the information presented here about the MEGF8 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to MEGF8 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Genu valgum Very Common - Between 80% and 100% cases
Patent ductus arteriosus Very Common - Between 80% and 100% cases
Brachycephaly Very Common - Between 80% and 100% cases
Transposition of the great arteries Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with MEGF8 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Kyphoscoliosis
  • Umbilical hernia
  • Camptodactyly
  • Craniosynostosis
  • Toe syndactyly
  • Postaxial polydactyly
  • Obesity
  • Postaxial hand polydactyly

And 126 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to MEGF8 gene

Here you will find a list of rare diseases related to the MEGF8. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


CARPENTER SYNDROME


Alternate names

CARPENTER SYNDROME Is also known as acrocephalopolysyndactyly type 2, acps2

Description

Carpenter syndrome is a subtype of a family of genetic disorders known as acrocephalopolysyndactyly (ACPS) disorders.

Most common symptoms of CARPENTER SYNDROME

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Sensorineural hearing impairment
  • Abnormal facial shape


More info about CARPENTER SYNDROME

SOURCES: ORPHANET OMIM

CARPENTER SYNDROME 1; CRPT1


Alternate names

CARPENTER SYNDROME 1; CRPT1 Is also known as carpenter syndrome, acrocephalopolysyndactyly type ii, acps ii

Description

Carpenter syndrome is a rare autosomal recessive disorder with the cardinal features of acrocephaly with variable synostosis of the sagittal, lambdoid, and coronal sutures; peculiar facies; brachydactyly of the hands with syndactyly; preaxial polydactyly and syndactyly of the feet; congenital heart defects; growth retardation; mental retardation; hypogenitalism; and obesity. In addition, cerebral malformations, oral and dental abnormalities, coxa valga, genu valgum, hydronephrosis, precocious puberty, and hearing loss may be observed (summary by Altunhan et al., 2011). Genetic Heterogeneity of Carpenter SyndromeCarpenter syndrome-2 (CRPT2 ), in which the features of Carpenter syndrome are sometimes associated with defective lateralization, is caused by mutation in the MEGF8 gene (OMIM ).

Most common symptoms of CARPENTER SYNDROME 1; CRPT1

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay


More info about CARPENTER SYNDROME 1; CRPT1

SOURCES: OMIM


Potential gene panels for MEGF8 gene

Craniofacial Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Craniofacial Sequencing Panel that also includes the following genes: RUNX2 SKI TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23 ALX1

More info about this panel

Craniofacial Deletion/Duplication Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Craniofacial Deletion/Duplication Panel that also includes the following genes: RUNX2 SKI TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23 ALX1

More info about this panel

Craniosynostosis Panel

United States.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Craniosynostosis that also includes the following genes: RUNX2 SKI TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23 CDC45

More info about this panel

Craniosynostosis Sequence Analysis Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Craniosynostosis Sequence Analysis that also includes the following genes: RUNX2 SKI TCF12 TWIST1 ZIC1 IFT122 RAB23 CD96 SPECC1L WDR35

More info about this panel

Craniofacial Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Craniofacial Del/Dup Panel that also includes the following genes: RUNX2 SALL1 SF3B4 SIX1 SIX5 SKI SNRPB TCF12 TCOF1 TWIST1

More info about this panel

Craniosynostosis Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Craniosynostosis Del/Dup Panel that also includes the following genes: RUNX2 SKI TCF12 TWIST1 ZIC1 IFT122 RAB23 CD96 SPECC1L WDR35

More info about this panel

Craniosynostosis Seq + Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Craniosynostosis Seq + Del/Dup Panel that also includes the following genes: RUNX2 SKI TCF12 TWIST1 ZIC1 IFT122 RAB23 CD96 SPECC1L WDR35

More info about this panel

Craniofacial Seq + Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Craniofacial Seq + Del/Dup Panel that also includes the following genes: RUNX2 SALL1 SF3B4 SIX1 SIX5 SKI SNRPB TCF12 TCOF1 TWIST1

More info about this panel

Craniofacial Seq Analysis Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Craniofacial Seq Analysis that also includes the following genes: RUNX2 SALL1 SF3B4 SIX1 SIX5 SKI SNRPB TCF12 TCOF1 TWIST1

More info about this panel

Craniosynostosis (NGS panel for 30 genes) Panel

Portugal.

By CGC Genetics Craniosynostosis (NGS panel for 30 genes) that also includes the following genes: BMP4 SKI TCF12 TGFBR1 TGFBR2 TWIST1 IFT122 RAB23 IRX5 TMCO1

More info about this panel

Carpenter syndrome type 2 (sequence analysis of MEGF8 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the MEGF8 gene.

More info about this panel

Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection that also includes the following genes: RMRP ROR2 RUNX2 SALL1 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 FBXW4

More info about this panel

Craniosynostosis Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Craniosynostosis Deletion / Duplication panel that also includes the following genes: SKI TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23 CDC45 WDR19

More info about this panel

Craniosynostosis Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Craniosynostosis Comprehensive panel that also includes the following genes: SKI TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23 CDC45 WDR19

More info about this panel

Craniosynostosis NGS panel Panel

United States.

By Connective Tissue Gene Tests Craniosynostosis NGS panel that also includes the following genes: SKI TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23 CDC45 WDR19

More info about this panel

Mental retardation - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10

More info about this panel

Craniosynostosis syndromes Panel Panel

Germany.

By CeGaT GmbH Craniosynostosis syndromes Panel that also includes the following genes: SKI TCF12 TWIST1 IFT122 RAB23 WDR19 FREM1 WDR35 IFT43 EFNB1

More info about this panel

qGenEx Craniofacial Anomalies Panel

Spain.

By Quantitative Genomic Medicine Laboratories, SL qGenEx Craniofacial Anomalies that also includes the following genes: RUNX2 SALL1 TSHZ1 BMP4 SEMA3E SF3B4 SH3BP2 SHH SIX1 SIX3

More info about this panel

Invitae Craniosynostosis Panel Panel

United States.

By Invitae Invitae Craniosynostosis Panel that also includes the following genes: TWIST1 RAB23 MEGF8 ERF FGFR1 FGFR2 FGFR3 GLI3 MSX2

More info about this panel

Invitae Carpenter Syndrome Panel Panel

United States.

By Invitae Invitae Carpenter Syndrome Panel that also includes the following genes: RAB23 MEGF8

More info about this panel

MEGF8 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the MEGF8 gene.

More info about this panel

Craniosynostosis Panel Panel

Finland.

By Blueprint Genetics Craniosynostosis Panel that also includes the following genes: BMP4 SKI SOX10 TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23

More info about this panel

CARPENTER SYNDROME (ACROCEPHALOPOLYSYNDACTYLY TYPE 2) Panel

Spain.

By Laboratorio de Genetica Clinica SL CARPENTER SYNDROME (ACROCEPHALOPOLYSYNDACTYLY TYPE 2) that also includes the following genes: RAB23 MEGF8

More info about this panel

CRANIOSYNOSTOSIS NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL CRANIOSYNOSTOSIS NGS PANEL that also includes the following genes: BMP4 SKI TCF12 TGFBR1 TGFBR2 TWIST1 IFT122 RAB23 WDR19 FREM1

More info about this panel


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