FAM69A gene related symptoms and diseases
All the information presented here about the FAM69A gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE.
Top 5 symptoms associated to FAM69A gene
|Symptoms // Phenotype||% Cases|
|Autosomal dominant inheritance||Very Common - Between 80% and 100% cases|
|Triphalangeal thumb||Very Common - Between 80% and 100% cases|
|Congenital glaucoma||Very Common - Between 80% and 100% cases|
|Macrocytic anemia||Very Common - Between 80% and 100% cases|
|Colon cancer||Very Common - Between 80% and 100% cases|
Other less frequent symptomsPatients with FAM69A gene alterations may also develop some of the following symptoms and phenotypes:
Commonly - More than 50% casesAbsent thumb
Not very common - Between 30% and 50% casesDelayed cranial suture closure
Commonly - More than 50% casesMyelodysplasia
Not very common - Between 30% and 50% casesAbnormality of the hand
Commonly - More than 50% casesHypoplastic ilia
Not very common - Between 30% and 50% casesBone marrow hypocellularity
Commonly - More than 50% casesHypoplasia of the radius
Not very common - Between 30% and 50% casesHydrops fetalis
And 63 more phenotypes.
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Rare diseases associated to FAM69A gene
Here you will find a list of rare diseases related to the FAM69A. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
DIAMOND-BLACKFAN ANEMIA 1; DBA1
DIAMOND-BLACKFAN ANEMIA 1; DBA1 Is also known as dba, blackfan-diamond syndrome;bds, anemia, congenital hypoplastic, of blackfan and diamond, anemia, congenital erythroid hypoplastic, red cell aplasia, pure, hereditary, aregenerative anemia, chronic congenital, erythrogenesis imperfecta, aase-smith syndrome ii, aase syndrome
Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by Landowski et al., 2013).
Most common symptoms of DIAMOND-BLACKFAN ANEMIA 1; DBA1
- Autosomal dominant inheritance
- Intellectual disability
- Short stature
More info about DIAMOND-BLACKFAN ANEMIA 1; DBA1
Potential gene panels for FAM69A gene
By Fulgent Genetics Fulgent Genetics in United States.
This panel specifically test the FAM69A gene.More info about this panel
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