MCTP2 gene related symptoms and diseases

All the information presented here about the MCTP2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,OMIM,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to MCTP2 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Triangular face Very Common - Between 80% and 100% cases
Finger clinodactyly Very Common - Between 80% and 100% cases
Short thumb Very Common - Between 80% and 100% cases
Cafe-au-lait spot Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with MCTP2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Small nail
  • Coarctation of aorta
  • Congenital diaphragmatic hernia
  • Broad nasal tip
  • Single transverse palmar crease
  • Bicuspid aortic valve
  • Small hand
  • Short distal phalanx of finger

And 70 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to MCTP2 gene

Here you will find a list of rare diseases related to the MCTP2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


DISTAL MONOSOMY 15Q


Alternate names

DISTAL MONOSOMY 15Q Is also known as monosomy 15q26, drayer syndrome, telomeric 15q deletion syndrome, distal 15q deletion syndrome, 15q26 deletion syndrome

Description

Distal monosomy 15q is a rare chromosomal anomaly syndrome characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, hand and foot anomalies (e.g. brachy-/clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits) and mild craniofacial dysmorphism (incl. microcephaly, triangular face, broad nasal bridge, micrognathia). Neonatal lymphedema, heart malformations, aplasia cutis congenita, aortic root dilatation, and autistic spectrum disorder have also been reported.

Most common symptoms of DISTAL MONOSOMY 15Q

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


More info about DISTAL MONOSOMY 15Q

SOURCES: OMIM ORPHANET MESH


Potential gene panels for MCTP2 gene

Coarctation of the aorta Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the MCTP2 gene.

More info about this panel

Cardiovascular Diseases_General Panel Panel

Spain.

By Health in Code Cardiovascular Diseases_General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR1 RYR2 SAR1B BLK SCN10A SCN1B SCN2B

More info about this panel

Congenital heart diseases Panel Panel

Spain.

By Health in Code Congenital heart diseases Panel that also includes the following genes: BRAF SOS1 TBX1 TBX20 TBX5 TFAP2B TNNI3 MED12 ZIC3 ACTA2

More info about this panel

MCTP2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the MCTP2 gene.

More info about this panel


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