ADAMTS3 gene related symptoms and diseases

All the information presented here about the ADAMTS3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,ORPHANET,HGNC.

Top 5 symptoms associated to ADAMTS3 gene



Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Ectopic kidney Very Common - Between 80% and 100% cases
Pachygyria Very Common - Between 80% and 100% cases
Lymphedema Very Common - Between 80% and 100% cases
Gingival overgrowth Very Common - Between 80% and 100% cases

Other less frequent symptoms

Patients with ADAMTS3 gene alterations may also develop some of the following symptoms and phenotypes:

Commonly - More than 50% cases

Lymphopenia

Not very common - Between 30% and 50% cases

Horseshoe kidney

Commonly - More than 50% cases

Hypocalcemia

Not very common - Between 30% and 50% cases

Hydrops fetalis

Commonly - More than 50% cases

Reduced number of teeth

Not very common - Between 30% and 50% cases

Pyloric stenosis

Commonly - More than 50% cases

Abnormality of dental morphology

Not very common - Between 30% and 50% cases

Increased number of teeth

And 38 more phenotypes.

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Rare diseases associated to ADAMTS3 gene

Here you will find a list of rare diseases related to the ADAMTS3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


HENNEKAM SYNDROME

Alternate names

HENNEKAM SYNDROME Is also known as lymphedema-lymphangiectasia-intellectual disability syndrome

Description

Hennekam syndrome is characterised by the association of lymphoedema, intestinal lymphangiectasia, intellectual deficit and facial dysmorphism.

Most common symptoms of HENNEKAM SYNDROME

  • Intellectual disability
  • Seizures
  • Hypertelorism
  • Abnormal facial shape
  • Low-set ears


More info about HENNEKAM SYNDROME

SOURCES: ORPHANET UMLS

Potential gene panels for ADAMTS3 gene

ADAMTS3 Panel

By Fulgent Genetics Fulgent Genetics in United States.

This panel specifically test the ADAMTS3 gene.

More info about this panel


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