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.
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
Search interest in MCTP2
Potential gene panels for MCTP2 gene
Coarctation of the aorta Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the MCTP2 gene.
More info about this panelCardiovascular Diseases_General Panel Panel
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 panelCongenital heart diseases Panel Panel
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 panelMCTP2 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the MCTP2 gene.
More info about this panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like CPNE4 WDR73 SPOP CDK13 AFF1 CLN8 ANKRD26