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 ([email protected]) or faxed () 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

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