BANF1 gene related symptoms and diseases
All the information presented here about the BANF1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to BANF1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Short stature | Very Common - Between 80% and 100% cases |
| Reduced subcutaneous adipose tissue | Very Common - Between 80% and 100% cases |
| Sparse and thin eyebrow | Very Common - Between 80% and 100% cases |
| Sparse eyelashes | Very Common - Between 80% and 100% cases |
| Osteolysis | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with BANF1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Atherosclerosis
- Tricuspid regurgitation
- Right bundle branch block
- Bundle branch block
- Lipoatrophy
- Dental crowding
- Delayed closure of the anterior fontanelle
- Arteriosclerosis
And 27 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to BANF1 gene
Here you will find a list of rare diseases related to the BANF1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
NESTOR-GUILLERMO PROGERIA SYNDROME
Alternate names
NESTOR-GUILLERMO PROGERIA SYNDROME Is also known as progeria syndrome, childhood-onset, with osteolysis, ngps, pscoo
Description
Nestor-Guillermo progeria syndrome is a rare, genetic, progeroid syndrome characterized by a prematurely aged appearance associated with severe osteolysis (notably on mandible, clavicles, ribs, distal phalanges, and long bones), osteoporosis, generalized lipoatrophy and absence of cardiovascular, atherosclerotic and metabolic complications, presenting a relatively long survival. Additional characteristics include growth retardation, joint stiffness (mainly of fingers, hands, knees, and elbows), wide cranial sutures, dysmorphic facial features (prominent eyes, convex nasal ridge, malocclusion, dental crowding, thin lip vermillion, microretrognathia) and persistent eyebrows, eyelashes and scalp hair.
Most common symptoms of NESTOR-GUILLERMO PROGERIA SYNDROME
- Short stature
- Scoliosis
- Growth delay
- Failure to thrive
- Micrognathia
More info about NESTOR-GUILLERMO PROGERIA SYNDROME
Search interest in BANF1
Potential gene panels for BANF1 gene
Progeroid syndromes (NGS panel for 12 genes) Panel
Portugal.
By CGC Genetics Progeroid syndromes (NGS panel for 12 genes) that also includes the following genes: BLM WRN ZMPSTE24 CAV1 BANF1 SPRTN ERCC6 ERCC8 FBN1 KCNJ6
More info about this panel Portugal.
Lipodystrophies and progeroid syndromes (NGS panel for 25 genes) Panel
Portugal.
By CGC Genetics Lipodystrophies and progeroid syndromes (NGS panel for 25 genes) that also includes the following genes: BLM WRN ZMPSTE24 CAV1 BSCL2 BANF1 TBC1D4 CIDEC SPRTN AGPAT2
More info about this panel Portugal.
Progeroid syndromes (NGS panel for 12 genes) Panel
Portugal.
By CGC Genetics Progeroid syndromes (NGS panel for 12 genes) that also includes the following genes: BLM WRN ZMPSTE24 CAV1 BANF1 SPRTN ERCC6 ERCC8 FBN1 KCNJ6
More info about this panel Portugal.
Lipodystrophies and progeroid syndromes (NGS panel for 25 genes) Panel
Portugal.
By CGC Genetics Lipodystrophies and progeroid syndromes (NGS panel for 25 genes) that also includes the following genes: BLM WRN ZMPSTE24 CAV1 BSCL2 BANF1 TBC1D4 CIDEC SPRTN AGPAT2
More info about this panel Portugal.
Nestor-Guillermo Progeria Syndrome Panel
United Kingdom.
By Exeter Molecular Genetics Laboratory
This panel specifically test the BANF1 gene.
More info about this panel United Kingdom.
Progeroid syndromes and related disorders NGS panel Panel
United States.
By Connective Tissue Gene Tests Progeroid syndromes and related disorders NGS panel that also includes the following genes: WRN ZMPSTE24 BSCL2 BANF1 B3GALT6 SLC25A24 AGPAT2 ERCC2 ERCC3 ERCC4
More info about this panel United States.
Progeroid syndromes and related disorders Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Progeroid syndromes and related disorders Comprehensive panel that also includes the following genes: WRN ZMPSTE24 BSCL2 BANF1 B3GALT6 SLC25A24 AGPAT2 ERCC2 ERCC3 ERCC4
More info about this panel United States.
Progeroid syndromes and related disorders Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Progeroid syndromes and related disorders Deletion / Duplication panel that also includes the following genes: WRN ZMPSTE24 BSCL2 BANF1 B3GALT6 SLC25A24 AGPAT2 ERCC2 ERCC3 ERCC4
More info about this panel United States.
Ectodermal dysplasia (including hypotrichosis and hypoplastic hair) Panel Panel
Germany.
By CeGaT GmbH Ectodermal dysplasia (including hypotrichosis and hypoplastic hair) Panel that also includes the following genes: BCS1L SNRPE SOX18 ST14 TRPS1 IFT122 WNT10A EDARADD SHOC2 LPAR6
More info about this panel Germany.
Progeria syndromes Panel Panel
Germany.
By CeGaT GmbH Progeria syndromes Panel that also includes the following genes: BLM WRN ZMPSTE24 BANF1 GTF2H5 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6
More info about this panel Germany.
BANF1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the BANF1 gene.
More info about this panel United States.
Osteolysis and Related Disorders , Panel Massive Sequencing (NGS) 6 Genes Panel
Spain.
By Reference Laboratory Genetics Osteolysis and Related Disorders , Panel Massive Sequencing (NGS) 6 Genes that also includes the following genes: SQSTM1 TNFRSF11A TYROBP BANF1 TREM2 MMP2
More info about this panel Spain.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like HSPG2 QDPR TWNK CCM2 HOXD13 RSPH4A