MIR17HG gene related symptoms and diseases

All the information presented here about the MIR17HG gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to MIR17HG gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Short stature Very Common - Between 80% and 100% cases
Hearing impairment Very Common - Between 80% and 100% cases
Microcephaly Very Common - Between 80% and 100% cases
Brachydactyly Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with MIR17HG gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Abnormality of the skeletal system
  • Intellectual disability, mild
  • Syndactyly
  • Clinodactyly
  • Short thumb
  • Abnormal vertebral morphology
  • Cutaneous syndactyly
  • Short middle phalanx of finger

And 1 more phenotypes, you can get all of them using our tools for rare diseases.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Rare diseases associated to MIR17HG gene

Here you will find a list of rare diseases related to the MIR17HG. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


FEINGOLD SYNDROME TYPE 2


Alternate names

FEINGOLD SYNDROME TYPE 2 Is also known as brachydactyly with short stature and microcephaly, fs2, fglds2, brunner-winter syndrome type 2, brachydactyly-short stature-microcephaly syndrome, microcephaly-digital anomalies-normal intelligence syndrome type 2, microcephaly-intellectual disability-tracheoes

Description

Feingold syndrome type 2 (FS2) is a rare inherited malformation syndrome characterized by skeletal abnormalities and mild intellectual disabilities similar to those seen in Feingold syndrome type 1 (FS1; see this term) but that lacks the manifestations of gastrointestinal atresia and short palpebral fissures.

Most common symptoms of FEINGOLD SYNDROME TYPE 2

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Brachydactyly


More info about FEINGOLD SYNDROME TYPE 2

SOURCES: OMIM ORPHANET


Potential gene panels for MIR17HG gene

Feingold Syndrome 2 Panel

United States.

By Molecular Diagnostics Lab Nemours Alfred I. duPont Hospital for Children

This panel specifically test the MIR17HG gene.

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

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

Feingold syndrome 2 (sequence analysis of MIR17HG gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the MIR17HG gene.

More info about this panel

Feingold syndrome type 2 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the MIR17HG gene.

More info about this panel

MIR17HG Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the MIR17HG gene.

More info about this panel

Facial Dysostosis Related Disorders , Panel Massive Sequencing (NGS) 10 Genes Panel

Spain.

By Reference Laboratory Genetics Facial Dysostosis Related Disorders , Panel Massive Sequencing (NGS) 10 Genes that also includes the following genes: SF3B4 TCOF1 POLR1C POLR1D CHD7 MIR17HG DHODH EFTUD2 EVC MYCN

More info about this panel


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like CHCHD10 PIK3C2B ACTG2 KMT2B USP9X AKT2 PAX1

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more