EFL1 gene related symptoms and diseases

All the information presented here about the EFL1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to EFL1 gene

Symptoms // Phenotype % Cases
Neutropenia Very Common - Between 80% and 100% cases
Anemia Very Common - Between 80% and 100% cases
Thrombocytopenia Very Common - Between 80% and 100% cases
Exocrine pancreatic insufficiency Very Common - Between 80% and 100% cases
Metaphyseal widening Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with EFL1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Global developmental delay
  • Respiratory tract infection
  • Failure to thrive
  • Steatorrhea
  • Growth delay
  • Generalized hypotonia
  • Short stature
  • Not very common - Between 30% and 50% cases

  • Enlargement of the costochondral junction

And 83 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to EFL1 gene

Here you will find a list of rare diseases related to the EFL1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


SHWACHMAN-DIAMOND SYNDROME


Alternate names

SHWACHMAN-DIAMOND SYNDROME Is also known as pancreatic insufficiency and bone marrow dysfunction, shwachman syndrome, shwachman-bodian syndrome, shwachman-diamond syndrome, shwachman-bodian-diamond syndrome, sds, lipomatosis of pancreas, congenital

Description

Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation.

Most common symptoms of SHWACHMAN-DIAMOND SYNDROME

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Scoliosis


More info about SHWACHMAN-DIAMOND SYNDROME

SOURCES: OMIM ORPHANET

SHWACHMAN-DIAMOND SYNDROME 2; SDS2


Description

Shwachman-Diamond syndrome-2 (SDS2) is characterized by exocrine pancreatic dysfunction, hematopoietic abnormalities, short stature, and metaphyseal dysplasia (Stepensky et al., 2017).For a discussion of genetic heterogeneity of Shwachman-Diamond syndrome, see SDS1 (OMIM ).

Most common symptoms of SHWACHMAN-DIAMOND SYNDROME 2; SDS2

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


More info about SHWACHMAN-DIAMOND SYNDROME 2; SDS2

SOURCES: OMIM


Potential gene panels for EFL1 gene

EFTUD1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the EFL1 gene.

More info about this panel


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