ELMO2 gene related symptoms and diseases

All the information presented here about the ELMO2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ELMO2 gene

Symptoms // Phenotype % Cases
Intellectual disability Uncommon - Between 30% and 50% cases
Proptosis Uncommon - Between 30% and 50% cases
Telangiectasia of the skin Uncommon - Between 30% and 50% cases
Juvenile rheumatoid arthritis Uncommon - Between 30% and 50% cases
Gingival fibromatosis Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with ELMO2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Abnormal anterior chamber morphology
  • Angiokeratoma
  • Axenfeld anomaly
  • Enlarged labia minora
  • Anemia
  • Hernia
  • Visual loss
  • Umbilical hernia

And 38 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to ELMO2 gene

Here you will find a list of rare diseases related to the ELMO2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


RAMON SYNDROME


Alternate names

RAMON SYNDROME Is also known as cherubism-gingival fibromatosis-intellectual disability syndrome, cherubism, gingival fibromatosis, epilepsy, mental deficiency, hypertrichosis, and stunted growth

Description

A slowly progressive syndrome of cherubic facies (fullness of the cheeks, producing a typical chubby face suggestive of a cherub) maxillary fibrous dysplasia, gingival enlargement, radiolucent lesions of the jaws, seizures, delayed mental development, stunted growth, and other defects. Insulin dependent diabetes mellitus and vascular skin lesions may occur.

Most common symptoms of RAMON SYNDROME

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Scoliosis


More info about RAMON SYNDROME

SOURCES: ORPHANET OMIM MESH

PRIMARY INTRAOSSEOUS VENOUS MALFORMATION


Alternate names

PRIMARY INTRAOSSEOUS VENOUS MALFORMATION Is also known as vmos, vascular malformation osseous, osseous venous malformation, intraosseous hemangioma, hemangioma, intraosseous

Description

Primary intraosseous venous malformation is a rare, genetic vascular anomaly characterized by severe blood vessel expansion (most frequently within the craniofacial bones) with painless bone enlargement (usually of mandibule, maxilla and/or orbital, nasal, and frontal bones), typically resulting in facial asymmetry and contour deformation. Midline abnormalities, such as diastasis recti, supraumbilical raphe, and hiatus hernia, are commonly associated. Additional features reported include gingival bleeding, ectopic tooth eruption, exophthalmos, loss of vision, nausea, and vomiting.

Most common symptoms of PRIMARY INTRAOSSEOUS VENOUS MALFORMATION

  • Anemia
  • Hernia
  • Visual loss
  • Proptosis
  • Umbilical hernia


More info about PRIMARY INTRAOSSEOUS VENOUS MALFORMATION

SOURCES: MESH ORPHANET OMIM


Potential gene panels for ELMO2 gene

Vascular malformations Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Vascular malformations Deletion / Duplication panel that also includes the following genes: BMPR2 TEK GLMN CAV1 KRIT1 ELMO2 ACVRL1 EIF2AK4 CCM2 ENG

More info about this panel

Vascular malformations NGS panel Panel

United States.

By Connective Tissue Gene Tests Vascular malformations NGS panel that also includes the following genes: BMPR2 TEK GLMN CAV1 KRIT1 ELMO2 ACVRL1 EIF2AK4 CCM2 ENG

More info about this panel

Vascular malformations Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Vascular malformations Comprehensive panel that also includes the following genes: BMPR2 TEK GLMN CAV1 KRIT1 ELMO2 ACVRL1 EIF2AK4 CCM2 ENG

More info about this panel

ELMO2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ELMO2 gene.

More info about this panel

Vascular Malformations Panel Panel

Finland.

By Blueprint Genetics Vascular Malformations Panel that also includes the following genes: SOX18 TEK GLMN KRIT1 STAMBP ELMO2 ACVRL1 CCM2 ENG SMAD4

More info about this panel


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