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
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
Search interest in TRIM44
Potential gene panels for TRIM44 gene
TRIM44 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the TRIM44 gene.
More info about this panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like NCAPD3 PRPH2 CHRNA4 ACD SLC10A2 MME GNPTAB