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search submit
ND37666
DNA
from
Whole Blood
Description:
HEREDITARY HEMORRHAGIC TELANGIECTASIA
Affected:
Yes
Gender:
Male
Age:
23
YR
(At Sampling)
Sample Description
Overview
Phenotypic Data
External Links
Overview
Repository
NINDS Repository
Subcollection
Cerebrovascular Disease
Quantity
3 µg
Quantitation Method
Please see our
FAQ
Biopsy Source
Peripheral vein
Sample Source
DNA from Whole Blood
Race
White
Subject Type
family pair other than sibs or parent-child
Family Type
MULTIGENERATIONAL FAMILIES - MORE THAN ONE AFFECTED
Ethnicity
Not Hispanic/Latino
Country of Origin
USA
Family Member
2
Family History
N
Relation to Proband
grandson
Species
Homo
sapiens
Common Name
Human
Note
This material represents a finite resource (DNA from Whole Blood)
Phenotypic Data
Demographic Data
Relation to Proband
grandson
Age at Sampling
23 YR
Gender
Male
Age of Onset(If not a control)
6 YR
Age at Diagnosis(If not a control)
23 YR
Hispanic or Latino/Not Hispanic or Latino
Not Hispanic/Latino
Racial Category
White
Country
USA
Diagnosed By
No Data
Data Elements
Clinical Element Type: Cerebrovascular Disease
(Baseline)
Longitudinal Data
Is this data Longitudinal (Follow-Up) Data?
yes
no
Smoking History
smoking history
never
former smoker
current smoker
years smoking
No Data
Family History
Family history of Cerebrovascular Disease
present
absent
Unknown
Family History of Aneurysm
present
absent
Unknown
Aneurysm Location of affected Family Member
No Data
Specific diagnosis
Cerebrovascular diagnosis
silent cerebral infarction
transient ischemic attack
unruptured intracranial aneurysm
symptomatic ischemic stroke
symptomatic intracerebral hemorrhage
aneurysmal subarachnoid hemorrhage
vascular cognitive impairment
arteriovenous malformations (AVM)
other
Unaffected primary blood relative of proband
Cerebral Cavernous Malformation (CCM)
Hereditary Hemorrhagic Telangiectasia (HHT)
Notes:
PAVM
Prior Medical History
Pre-existing history of dementia
Present
Absent
Pre-hemorrhage history of ischemic stroke
Present
Absent
Not Applicable
TOAST criteria
ischemic stroke subtype based on TOAST
not applicable
AVM subtype criteria
AVM type
unruptured
ruptured
not applicable
Spetzler-Martin score
No Data
Size
No Data
AVM Location
No Data
Venous drainage
No Data
Drainage Location
cortical
subcortical/deep
posterior fossa
Confirmation of diagnosis
did a neurologist confirm the cerebrovascular diagnosis
yes
no
Medical History
hypertension
yes
no
diabetes mellitus
yes
no
atrial fibrillation
yes
no
myocardial infarction
yes
no
Other risk factors
yes
no
Genetic Data of Subject
Mutation/s in subject's DNA (if present, describe)
present
absent
unknown
Notes:
ENG: 1657DELC
Medical History
Hypertension treated with medication
yes
no
Blood pressure (at time of blood draw)
No Data
Other diagnosis
Parkinson's disease
yes
no
Alzheimer's disease
yes
no
Epilepsy
yes
no
Amyotrophic lateral sclerosis
yes
no
Dementia
yes
no
Other Neurological Diagnosis(es)
yes
no
Optional data
State Examination (MMSE) score
No Data
Neurological examination
No Data
Handedness
No Data
Montreal Cognitive Assessment(MoCA) score
No Data
Clinical Element Type: Hereditary Hemorrhagic Telangiectasia (HHT)
(Baseline)
Smoking History
Smoking History:
Never
Previous
Current
Pack-years, if applicable:
No Data
Family History
Family History of HHT:
Present
Absent
Unknown
If Present, List Affected Family Members:
MOTHER, GRANDMOTHER, MULTIPLE EXTENDED FAMILY MEMBERS
Diagnostic Criteria
HHT Clinical Diagnosis:
Definite
Possible
Uncertain
Unknown
HHT Mutation:
endoglin
alk1
smad4
unknown
HHT Specific Mutation:
ENG: 1657DELC
Brain AVM Present:
Yes
No
Unknown
Other AVM Present
Pulmonary
Liver
Gastrointestinal
Other
If other, please specify
No Data
Notes:
No Data
Medical History
Hypertension
Present
Absent
Diabetes mellitus
Present
Absent
Atrial fibrillation
Present
Absent
Myocardial infarction
Present
Absent
Other Risk Factors:
No Data
External Links
NCBI GTR
187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1; HHT1
OMIM
187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1; HHT1
Omim Description
ORW DISEASE
OSLER-RENDU-WEBER DISEASE
TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER;HHT
TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE I; HHT1
Culture Protocols
Supplement
-
Pricing
Commercial and Non-U.S.:
$0.00
USD
U.S. Academic or
Non-profit:
$0.00
USD
NINDS Repository Submitter (past or current) and/or Current NINDS Grantee
$0.00
USD
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