International Fabry Disease Genotype-Phenotype Database (dbFGP)

Data Contributions

The Data Contributions Form is to be used by healthcare providers and laboratory personnel to submit clinical, biochemical, and/or molecular data on known or novel GLA mutations. We invite your submissions. All submitted information will be reviewed by the dbFGP Team. You may be contacted by the dbFGP Team to answer questions so please provide contact information. The form can be completed on-line and emailed automatically to the dbFGP Team by clicking SUBMIT. Alternatively, the form can be printed, completed, and emailed (dbFGP@mssm.edu) or faxed (212-659-6780) to the dbFGP Team.

International Fabry Disease
Genotype-Phenotype Database
Submission Form:Clinical / Biochemical Data
FabryGP PID#:
Molecular Lesion (provide at least 1):  
(1) DNA (c.XX…XX):  
(2) gDNA (g.XX…XX):
(3) Protein change (p.Xxx123Yyy):
Other SNPs in the allele (list):
in vitro Protein Expression (%wt):   Not Done
Your Patient ID:  
Submitter Contact Information:
Last Name:  
First Name & MI:  
Degree: PhD (1) MD (2) MD/PhD (3) MS (4)
Expertise: Basic Researcher Clinician
Have you submitted data previously? Yes No. My contact information is provided below.
If, yes: Do you need to update your contact information? No update is needed Updates are provided below
Institution Name:  
Laboratory Name:  
Address:  
 
City:  
State:  
Postal Code:  
Country:  
Phone:  
Fax:  
Email:  
Patient Demographic Information:
Laboratory Patient Information No.:  
Patient Initials (XXX):  
Patient Year of Birth (YYYY):   Unknown
Current age of patient (yrs)   Unknown
Gender: Female Male
Patient Ethnicity (list):
Maternal side:   Unknown
Paternal side:   Unknown
Race: WhiteBlackHispanicAsian or Pacific Islander American Indian or Alaskan NativeUnknown
Patient Clinical Information:
YesNoUnknown Acroparesthesias (burning pain presenting in childhood and/or adolescence, typically in hands and/or feet, with fever and/or exercise).
If yes, age of onset:
YesNoUnknown Anhidrosis/Hypohidrosis (diminished or absent sweating)
If yes, age of onset:
YesNo Unknown Angiokeratomas (non-blanching red-to-blue/black lesions, occurring in the navel, genital region, and/or trunk)
If yes: navel genital region trunk arms/legs
YesNoUnknown Gastrointestinal complaints (including post-prandial (after meals) cramping / abdominal pain, frequent diarrhea, frequent bowel movements, and/or constipation)
YesNoUnknown Corneal Dystrophy (seen by slit-lamp microscopy), corneal verticillata, corneal "whorls", corneal opacities
YesNoUnknown Renal complications:
YesNoUnknown Proteinuria
YesNoUnknown Renal insufficiency /Renal Failure
YesNoUnknown On dialysis (date initiated: / / )
YesNoUnknown Renal Transplant (date of transplant // )
Last serum creatinine: value: date:/ /
Last eGFR: value: date:/ /
YesNoUnknown Cardiac Complications:
YesNoUnknown Arrythmia
YesNoUnknown Hypertrophic Cardiomyopathy (HCM)
YesNoUnknown Left ventricular hypertrophy (LVH)
YesNoUnknown Pacemaker implanted (ICM)
YesNoUnknown Myocardial Infarction (MI)
YesNoUnknown Heart failure
YesNoUnknown Other EKG abnormality
YesNoUnknown Cerebrovascular complications:
YesNoUnknown White matter lesions(on Brain MRI)
YesNoUnknown TIAs If yes, age at first TIA: (yrs)
YesNoUnknown Stroke If yes, age at first stroke: (yrs)
YesNoUnknown On ERT?
If yes, ERT dose: 1 mg/kg 0.2 mg/kg Unknown
If yes, age ERT initiated (yrs):   Not applicable Unknown
Patient Biochemical Information:
α-Gal A Enzyme Activity:  
Plasma Enzyme: Not Done/Available
Normal Range:
Normal Mean:
Leukocytes Enzyme: Not Done/Available
Normal Range:
Normal Mean:
Dried blood spot (DBS) Enzyme: Not Done/Available
Normal Range:
Normal Mean:
Glycolipid Analysis :
GL3/Gb3 Plasma Not Done/Available
Normal Range:
Normal Mean:
GL3/Gb3 Urine (random)/ Creatinine Not Done/Available
Normal Range:
Normal Mean:
GL3/Gb3 Urine (24-hour) / Creatinine : Not Done/Available
Normal Range:
Normal Mean:
Urine creatinine: Not Done/Available
GFR /eGFR:
Serum Creatinine: Not Done/Available

Email
Print