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.

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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

SOURCES: OMIM ORPHANET


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

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

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

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

Nestor-Guillermo Progeria Syndrome Panel

United Kingdom.

By Exeter Molecular Genetics Laboratory

This panel specifically test the BANF1 gene.

More info about this panel

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

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

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

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

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

BANF1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the BANF1 gene.

More info about this panel

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


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