TRIM44 gene related symptoms and diseases

All the information presented here about the TRIM44 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 TRIM44 gene

Symptoms // Phenotype % Cases
Cataract Very Common - Between 80% and 100% cases
Aniridia Very Common - Between 80% and 100% cases
Glaucoma Very Common - Between 80% and 100% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Hypopituitarism Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with TRIM44 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Adrenal insufficiency
  • Albinism
  • Anophthalmia
  • Nephroblastoma
  • Ectopia lentis
  • Bilateral ptosis
  • Anosmia
  • Hypoplasia of the iris

And 81 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to TRIM44 gene

Here you will find a list of rare diseases related to the TRIM44. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


ISOLATED ANIRIDIA

Alternate names

ISOLATED ANIRIDIA Is also known as an2, formerly, aniridia ii, formerly, an

Description

Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris.

Most common symptoms of ISOLATED ANIRIDIA

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


More info about ISOLATED ANIRIDIA

SOURCES: OMIM ORPHANET

ANIRIDIA 3; AN3

Most common symptoms of ANIRIDIA 3; AN3

  • Cataract
  • Visual impairment
  • Glaucoma
  • Corneal opacity
  • Progressive visual loss


More info about ANIRIDIA 3; AN3

SOURCES: OMIM


Potential gene panels for TRIM44 gene

TRIM44 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the TRIM44 gene.

More info about this panel
United States.

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