National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Familial porencephaly


Other Names:
Familial porencephalic white matter disease
Categories:

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
1%-4% of people have these symptoms
Astigmatism
Abnormal curving of the cornea or lens of the eye
0000483
Corneal neovascularization
New blood vessel formation in cornea
0011496
Corneal opacity 0007957
Developmental cataract
Clouding of the lens of the eye at birth
0000519
Ectopia pupillae
Displaced pupil
0009918
Glaucoma 0000501
Hypermetropia
Farsightedness
Long-sightedness
[ more ] 		0000540
Hypoplasia of the iris
Underdeveloped iris
0007676
Microcornea
Cornea of eye less than 10mm in diameter
0000482
Microphthalmia
Abnormally small eyeball
0000568
Peripapillary atrophy 0500087
Polycoria
Multiple pupils
0011500
Percent of people who have these symptoms is not available through HPO
Amblyopia
Lazy eye
Wandering eye
[ more ] 		0000646
Autosomal dominant inheritance 0000006
Babinski sign 0003487
Blurred vision 0000622
Cerebellar atrophy
Degeneration of cerebellum
0001272
Cerebral hemorrhage
Bleeding in brain
0001342
Elevated serum creatine kinase
Elevated blood creatine phosphokinase
Elevated circulating creatine phosphokinase
Elevated creatine kinase
Elevated serum CPK
Elevated serum creatine phosphokinase
High serum creatine kinase
Increased CPK
Increased creatine kinase
Increased creatine phosphokinase
Increased serum CK
Increased serum creatine kinase
Increased serum creatine phosphokinase
[ more ] 		0003236
Exotropia
Outward facing eye ball
0000577
Facial paralysis 0007209
Focal cortical dysplasia 0032046
Global developmental delay 0001263
Hemiparesis
Weakness of one side of body
0001269
Hemiplegia
Paralysis on one side of body
0002301
Hemolytic anemia 0001878
Hydrocephalus
Too much cerebrospinal fluid in the brain
0000238
Hypopigmentation of the fundus 0007894
Incomplete penetrance 0003829
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] 		0001249
Intracranial hemorrhage
Bleeding within the skull
0002170
Ischemic stroke 0002140
Leukoencephalopathy 0002352
Limb dystonia 0002451
Migraine
Intermittent migraine headaches
Migraine headache
Migraine headaches
[ more ] 		0002076
Myopia
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ] 		0000545
Porencephalic cyst
Cavity within brain
0002132
Retinal arteriolar tortuosity 0001136
Schizencephaly 0010636
Seizure 0001250
Spasticity
Involuntary muscle stiffness, contraction, or spasm
0001257
Tetraparesis 0002273
Variable expressivity 0003828
Ventriculomegaly 0002119
Visual field defect
Partial loss of field of vision
0001123
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Last updated: 7/1/2020

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Familial porencephaly. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
    Online Mendelian Inheritance in Man (OMIM)
    Online Mendelian Inheritance in Man (OMIM)
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Familial porencephaly. Click on the link to view a sample search on this topic.

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