FAN1 gene related symptoms and diseases
All the information presented here about the FAN1 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 FAN1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Carcinoma | Very Common - Between 80% and 100% cases |
| Anemia | Uncommon - Between 30% and 50% cases |
| Memory impairment | Uncommon - Between 30% and 50% cases |
| Visual field defect | Uncommon - Between 30% and 50% cases |
| Basal cell carcinoma | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with FAN1 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Hemiplegia/hemiparesis
- Breast carcinoma
- Increased intracranial pressure
- Hallucinations
- Migraine
- Gastrointestinal hemorrhage
- Neuroblastoma
- Dyskinesia
And 66 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to FAN1 gene
Here you will find a list of rare diseases related to the FAN1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
KARYOMEGALIC INTERSTITIAL NEPHRITIS
Alternate names
KARYOMEGALIC INTERSTITIAL NEPHRITIS Is also known as kin, systemic karyomegaly
Description
Karyomegalic interstitial nephritis is a rare, genetic renal disease characterized by slowly progressive, chronic, tubulointerstitial nephritis, leading to end-stage renal disease before the age of 50 years, manifesting with mild proteinuria, glucosuria and, occasionally, urinary sediment abnormalities (mainly hematuria). Mild extrarenal manifestations, such as recurrent upper respiratory tract infections and abnormal liver function tests, may be associated. Renal biopsy reveals severe, chronic, interstitial fibrosis and tubular changes, as well as hallmark karyomegalic tubular epithelial cells which line the proximal and distal tubules and have enlarged, hyperchromatic nuclei.
Most common symptoms of KARYOMEGALIC INTERSTITIAL NEPHRITIS
- Anemia
- Hypertension
- Renal insufficiency
- Recurrent infections
- Pneumonia
More info about KARYOMEGALIC INTERSTITIAL NEPHRITIS
LYNCH SYNDROME
Alternate names
LYNCH SYNDROME Is also known as coca2, colon cancer, familial nonpolyposis, type 2, fcc2
Most common symptoms of LYNCH SYNDROME
- Seizures
- Neoplasm
- Muscular hypotonia
- Flexion contracture
- Visual impairment
More info about LYNCH SYNDROME
Search interest in FAN1
Potential gene panels for FAN1 gene
Karyomegalic Tubulointerstitial Nephritis (KTN) via FAN1 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the FAN1 gene.
More info about this panel United States.
Nephronophthisis and related disorders NGS panel Panel
United States.
By Connective Tissue Gene Tests Nephronophthisis and related disorders NGS panel that also includes the following genes: SDCCAG8 CEP41 NEK8 ZNF423 TRAF3IP1 INVS CEP83 DCDC2 WDR19 NPHP4
More info about this panel United States.
Nephronophthisis and related disorders Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Nephronophthisis and related disorders Comprehensive panel that also includes the following genes: SDCCAG8 CEP41 NEK8 ZNF423 TRAF3IP1 INVS CEP83 DCDC2 WDR19 NPHP4
More info about this panel United States.
Nephronophthisis and related disorders Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Nephronophthisis and related disorders Deletion / Duplication panel that also includes the following genes: SDCCAG8 CEP41 NEK8 ZNF423 TRAF3IP1 INVS CEP83 DCDC2 WDR19 NPHP4
More info about this panel United States.
Interstitial nephritis, karyomegalic Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen
This panel specifically test the FAN1 gene.
More info about this panel Germany.
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 Germany.
Interstitial nephritis karyomegalic Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the FAN1 gene.
More info about this panel Germany.
Nephronophthisis Panel Panel
Germany.
By CeGaT GmbH Nephronophthisis Panel that also includes the following genes: NEK8 ZNF423 INVS CEP83 DCDC2 WDR19 NPHP4 SLC41A1 TTC21B ANKS6
More info about this panel Germany.
FAN1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the FAN1 gene.
More info about this panel United States.
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 United States.
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 Finland.
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 Spain.
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