1. Mendelian
  2. Genes
  3. SH2B1

SH2B1 gene related symptoms and diseases

All the information presented here about the SH2B1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to SH2B1 gene

Symptoms // Phenotype % Cases
Obesity Very Common - Between 80% and 100% cases
Delayed speech and language development Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Hyperactivity Common - Between 50% and 80% cases
Attention deficit hyperactivity disorder Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with SH2B1 gene alterations may also develop some of the following symptoms and phenotypes:

  • Commonly - More than 50% cases

  • Autistic behavior
  • Renal agenesis
  • Autism
  • Global developmental delay
  • Seizures

  • Not very common - Between 30% and 50% cases

  • Hemivertebrae
  • Pointed chin
  • Narrow palpebral fissure

And 109 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to SH2B1 gene

Here you will find a list of rare diseases related to the SH2B1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


DISTAL 16P11.2 MICRODELETION SYNDROME

Alternate names

DISTAL 16P11.2 MICRODELETION SYNDROME Is also known as distal monosomy 16p11.2, distal del(16)(p11.2)

Description

Distal 16p11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental delay, mild intellectual disability and autism spectrum disorder. Macrocephaly (apparent by 2 years of age), structural brain malformations, epilepsy, vertebral anomalies and obesity are frequently associated.

Most common symptoms of DISTAL 16P11.2 MICRODELETION SYNDROME

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Delayed speech and language development
  • Kyphosis


More info about DISTAL 16P11.2 MICRODELETION SYNDROME

SOURCES: OMIM ORPHANET

PROXIMAL 16P11.2 MICRODELETION SYNDROME

Alternate names

PROXIMAL 16P11.2 MICRODELETION SYNDROME Is also known as proximal del(16)(p11.2), proximal monosomy 16p11.2

Description

The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity.

Most common symptoms of PROXIMAL 16P11.2 MICRODELETION SYNDROME

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Scoliosis


More info about PROXIMAL 16P11.2 MICRODELETION SYNDROME

SOURCES: OMIM ORPHANET MESH

SEVERE EARLY-ONSET OBESITY-INSULIN RESISTANCE SYNDROME DUE TO SH2B1 DEFICIENCY

Most common symptoms of SEVERE EARLY-ONSET OBESITY-INSULIN RESISTANCE SYNDROME DUE TO SH2B1 DEFICIENCY

  • Short stature
  • Delayed speech and language development
  • Obesity
  • Elevated hepatic transaminase
  • Aggressive behavior


More info about SEVERE EARLY-ONSET OBESITY-INSULIN RESISTANCE SYNDROME DUE TO SH2B1 DEFICIENCY

SOURCES: ORPHANET


Potential gene panels for SH2B1 gene

Non-Syndromic Monogenic Obesity Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Non-Syndromic Monogenic Obesity Sequencing Panel with CNV Detection that also includes the following genes: SIM1 UCP3 KSR2 SH2B1 LEP LEPR MC4R NR0B2 NTRK2 PCSK1

More info about this panel
United States.

Comprehensive Monogenic Obesity Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Comprehensive Monogenic Obesity Panel with CNV Detection that also includes the following genes: BDNF SDCCAG8 SIM1 TUB UCP3 KDM6A ARL6 RAB23 TRIM32 PHF6

More info about this panel
United States.

SH2B1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the SH2B1 gene.

More info about this panel
United States.

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