Rare Pediatrics News

Disease Profile

Familial porencephaly

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Infancy

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ICD-10

Q04.6

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Familial porencephalic white matter disease

Categories

Congenital and Genetic Diseases; Nervous System Diseases

Symptoms

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.

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

Diagnosis

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.

Learn more

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.