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 symptoms

Patients with FAM69A gene alterations may also develop some of the following symptoms and phenotypes:

Commonly - More than 50% cases

Absent thumb

Not very common - Between 30% and 50% cases

Delayed cranial suture closure

Commonly - More than 50% cases

Myelodysplasia

Not very common - Between 30% and 50% cases

Abnormality of the hand

Commonly - More than 50% cases

Hypoplastic ilia

Not very common - Between 30% and 50% cases

Bone marrow hypocellularity

Commonly - More than 50% cases

Hypoplasia of the radius

Not very common - Between 30% and 50% cases

Hydrops 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

Alternate names

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

Description

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). Genetic Heterogeneity of Diamond-Blackfan AnemiaA locus for DBA (DBA2 ) has been mapped to chromosome 8p23-p22. Other forms of DBA include DBA3 (OMIM ), caused by mutation in the RPS24 gene (OMIM ) on 10q22; DBA4 (OMIM ), caused by mutation in the RPS17 gene (OMIM ) on 15q; DBA5 (OMIM ), caused by mutation in the RPL35A gene (OMIM ) on 3q29; DBA6 (OMIM ), caused by mutation in the RPL5 gene (OMIM ) on 1p22.1; DBA7 (OMIM ), caused by mutation in the RPL11 gene (OMIM ) on 1p36; DBA8 (OMIM ), caused by mutation in the RPS7 gene (OMIM ) on 2p25; DBA9 (OMIM ), caused by mutation in the RPS10 gene (OMIM ) on 6p; DBA10 (OMIM ), caused by mutation in the RPS26 (OMIM ) gene on 12q; DBA11 (OMIM ), caused by mutation in the RPL26 gene (OMIM ) on 17p13; DBA12 (OMIM ), caused by mutation in the RPL15 gene (OMIM ) on 3p24; DBA13 (OMIM ), caused by mutation in the RPS29 gene (OMIM ) on 14q; DBA14 (OMIM ), caused by mutation in the TSR2 gene (OMIM ) on Xp11; DBA15 (OMIM ), caused by mutation in the RPS28 gene (OMIM ) on 19p13; DBA16 (OMIM ), caused by mutation in the RPL27 gene (OMIM ) on chromosome 17q21; and DBA17 (OMIM ), caused by mutation in the RPS27 gene (OMIM ) on chromosome 1q21.Boria et al. (2010) reviewed the molecular basis of Diamond-Blackfan anemia, emphasizing that it is a disorder of defective ribosome synthesis.Gazda et al. (2012) completed a large-scale screen of 79 ribosomal protein genes in families with Diamond-Blackfan anemia and stated that of the 10 known DBA-associated genes, RPS19 accounts for approximately 25% of patients; RPS24, 2%; RPS17, 1%; RPL35A, 3.5%; RPL5, 6.6%; RPL11, 4.8%; RPS7, 1%; RPS10, 6.4%; RPS26, 2.6%; and RPL26, 1%. Gazda et al. (2012) stated that in total these mutations account for approximately 54% of all DBA patients.In a study of 98 Japanese patients with DBA, Wang et al. (2015) detected probable causative mutations or large deletions in ribosomal protein genes in 56 (55%) of the patients, involving the RPS19 gene in 16 patients, RPL5 in 12, RPS17 in 7, RPL35A in 7, RPL11 in 5, and RPS26 in 4; RPS7, RPS10, RPL27, and RPS27 were each mutated in 1 patient.

Most common symptoms of DIAMOND-BLACKFAN ANEMIA 1; DBA1

  • Autosomal dominant inheritance
  • Intellectual disability
  • Short stature
  • Pica
  • Microcephaly


More info about DIAMOND-BLACKFAN ANEMIA 1; DBA1

SOURCES: OMIM MONDO

Potential gene panels for FAM69A gene

FAM69A Panel

By Fulgent Genetics Fulgent Genetics in United States.

This panel specifically test the FAM69A gene.

More info about this panel


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