FN1 gene related symptoms and diseases

All the information presented here about the FN1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to FN1 gene

Symptoms // Phenotype % Cases
Short stature Uncommon - Between 30% and 50% cases
Hypoalbuminemia Uncommon - Between 30% and 50% cases
Hyperconvex vertebral body endplates Uncommon - Between 30% and 50% cases
Hypertension Uncommon - Between 30% and 50% cases
Renal insufficiency Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with FN1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Proteinuria
  • Stage 5 chronic kidney disease
  • Nephropathy
  • Hematuria
  • Nephrotic syndrome
  • Glomerulonephritis
  • Ovoid vertebral bodies
  • Cerebral hemorrhage

And 31 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to FN1 gene

Here you will find a list of rare diseases related to the FN1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


SPONDYLOMETAPHYSEAL DYSPLASIA, 'CORNER FRACTURE' TYPE


Alternate names

SPONDYLOMETAPHYSEAL DYSPLASIA, 'CORNER FRACTURE' TYPE Is also known as spondylometaphyseal dysplasia, sutcliffe type

Description

Spondylometaphyseal dysplasia, 'corner fracture' type is a skeletal dysplasia associated with short stature, developmental coxa vara, progressive hip deformity, simulated 'corner fractures' of long tubular bones and vertebral body abnormalities (mostly oval vertebral bodies).

Most common symptoms of SPONDYLOMETAPHYSEAL DYSPLASIA, 'CORNER FRACTURE' TYPE

  • Short stature
  • Scoliosis
  • Gait disturbance
  • Kyphosis
  • Kyphoscoliosis


More info about SPONDYLOMETAPHYSEAL DYSPLASIA, 'CORNER FRACTURE' TYPE

SOURCES: OMIM MESH ORPHANET

FIBRONECTIN GLOMERULOPATHY


Alternate names

FIBRONECTIN GLOMERULOPATHY Is also known as fibronectin glomerulopathy, glomerulopathy with fibronectin deposits, glomerular nephritis, familial, with fibronectin deposits, gfnd

Description

Fibronectin glomerulopathy is a hereditary kidney disease characterized by proteinuria, type IV renal tubular acidosis, microscopic hematuria and hypertension that may lead to end-stage renal failure in the second to sixth decade of life.

Most common symptoms of FIBRONECTIN GLOMERULOPATHY

  • Hypertension
  • Renal insufficiency
  • Proteinuria
  • Stage 5 chronic kidney disease
  • Nephropathy


More info about FIBRONECTIN GLOMERULOPATHY

SOURCES: OMIM ORPHANET

PLASMA FIBRONECTIN DEFICIENCY


Most common symptoms of PLASMA FIBRONECTIN DEFICIENCY

  • Abnormal bleeding
  • Keloids


More info about PLASMA FIBRONECTIN DEFICIENCY

SOURCES: OMIM


Potential gene panels for FN1 gene

Glomerulopathy with Fibronectin Deposits via FN1 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the FN1 gene.

More info about this panel

Spondylo-Epi-Metaphyseal dysplasias Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Spondylo-Epi-Metaphyseal dysplasias Deletion / Duplication panel that also includes the following genes: RMRP BGN RUNX2 SLC26A2 SMARCAL1 ACP5 CFAP410 CCN6 XYLT1 RAB33B

More info about this panel

Spondylo-Epi-Metaphyseal dysplasias Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Spondylo-Epi-Metaphyseal dysplasias Comprehensive panel that also includes the following genes: RMRP BGN RUNX2 SLC26A2 SMARCAL1 ACP5 CFAP410 CCN6 XYLT1 RAB33B

More info about this panel

Spondylo-Epi-Metaphyseal dysplasias NGS panel Panel

United States.

By Connective Tissue Gene Tests Spondylo-Epi-Metaphyseal dysplasias NGS panel that also includes the following genes: RMRP BGN RUNX2 SLC26A2 SMARCAL1 ACP5 CFAP410 CCN6 XYLT1 RAB33B

More info about this panel

Nephrotic syndrome and related disorders Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Nephrotic syndrome and related disorders Comprehensive panel that also includes the following genes: SGPL1 SMARCAL1 TRPC6 WT1 NPHS2 ANLN CD2AP ACTN4 SCARB2 PLCE1

More info about this panel

Nephrotic syndrome and related disorders NGS panel Panel

United States.

By Connective Tissue Gene Tests Nephrotic syndrome and related disorders NGS panel that also includes the following genes: SGPL1 SMARCAL1 TRPC6 WT1 NPHS2 ANLN CD2AP ACTN4 SCARB2 PLCE1

More info about this panel

Nephrotic syndrome and related disorders Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Nephrotic syndrome and related disorders Deletion / Duplication panel that also includes the following genes: SGPL1 SMARCAL1 TRPC6 WT1 NPHS2 ANLN CD2AP ACTN4 SCARB2 PLCE1

More info about this panel

Hereditary kidney disorders - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Hereditary kidney disorders - different panels that also includes the following genes: BCS1L ROBO2 CNNM2 CFB SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8

More info about this panel

FN1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the FN1 gene.

More info about this panel

KidneySeq - 264 Genes Panel

United States.

By Iowa Institute of Human Genetics University of Iowa KidneySeq - 264 Genes that also includes the following genes: ROBO2 CNNM2 SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8 BMP4 SEMA3E

More info about this panel

Nephrotic Syndrome Panel Panel

Finland.

By Blueprint Genetics Nephrotic Syndrome Panel that also includes the following genes: SGPL1 SMARCAL1 TRPC6 WT1 NPHS2 ANLN CD2AP ACTN4 SCARB2 PLCE1

More info about this panel

SYNDROME WITH FOCAL SEGMENTAL GLOMERULOSCLEROSIS NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL SYNDROME WITH FOCAL SEGMENTAL GLOMERULOSCLEROSIS NGS PANEL that also includes the following genes: SGPL1 TRPC6 WT1 NPHS2 ANLN CD2AP ACTN4 PLCE1 NUP205 CRB2

More info about this panel


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