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  3. ADAMTS3

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: HGNC,NCBIGENE,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to ADAMTS3 gene

Symptoms // Phenotype % Cases
Abnormal intestine morphology Very Common - Between 80% and 100% cases
Flat face Very Common - Between 80% and 100% cases
Protein-losing enteropathy Very Common - Between 80% and 100% cases
Hepatosplenomegaly Very Common - Between 80% and 100% cases
Abnormal facial shape Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

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

  • Commonly - More than 50% cases

  • Edema
  • Hypertelorism
  • Lymphedema
  • Polyhydramnios

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

  • Cutaneous finger syndactyly
  • Reduced number of teeth
  • Ectopic kidney
  • Increased number of teeth

And 111 more phenotypes, you can get all of them using our tools for rare diseases.

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, lymphatic dysplasia, generalized, hennekam lymphangiectasia-lymphedema 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
  • Hearing impairment
  • Scoliosis
  • Growth delay


More info about HENNEKAM SYNDROME

SOURCES: ORPHANET OMIM

HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 3; HKLLS3

Description

Hennekam lymphangiectasia-lymphedema syndrome-3 (HKKLLS3) is characterized by widespread congenital edema that is more severe in more dependent areas of the body. Associated features include facial dysmorphism and protein-losing enteropathy of variable severity (Brouillard et al., 2017).For a discussion of genetic heterogeneity of Hennekam lymphangiectasia-lymphedema syndrome, see HKLLS1 (OMIM ).

Most common symptoms of HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 3; HKLLS3

  • Global developmental delay
  • Hypertelorism
  • Strabismus
  • Abnormal facial shape
  • Edema


More info about HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 3; HKLLS3

SOURCES: OMIM


Potential gene panels for ADAMTS3 gene

ADAMTS3 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ADAMTS3 gene.

More info about this panel
United States.

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