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Disease Profile
Pseudoneonatal adrenoleukodystrophy
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.
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Age of onset
Neonatal
ICD-10
E71.3
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
Not applicable
Other names (AKA)
Peroxisomal Acyl-CoA oxidase deficiency; Straight-chain Acyl-CoA oxidase deficiency; Pseudo-neonatal adrenoleukodystrophy;
Categories
Congenital and Genetic Diseases; Metabolic disorders; Nervous System Diseases
Summary
Orpha Number: 2971
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
|
---|---|---|
80%-99% of people have these symptoms | ||
Abnormal electroretinogram | 0000512 | |
Abnormal nervous system morphology |
Abnormal shape of nervous system
|
0012639 |
Abnormality of metabolism/homeostasis |
Laboratory abnormality
Metabolism abnormality
[ more ] |
0001939 |
Abnormality of visual evoked potentials | 0000649 | |
Loss of developmental milestones
Mental deterioration in childhood
[ more ] |
0002376 | |
0002353 | ||
Gait disturbance |
Abnormal gait
Abnormal walk
Impaired gait
[ more ] |
0001288 |
Global |
0001263 | |
Hyperreflexia |
Increased reflexes
|
0001347 |
Hypodontia |
Failure of development of between one and six teeth
|
0000668 |
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation
[ more ] |
0010864 | |
Muscular |
Low or weak muscle tone
|
0001252 |
Neurological speech impairment |
Speech disorder
Speech impairment
Speech impediment
[ more ] |
0002167 |
0001250 | ||
Sensorineural hearing impairment | 0000407 | |
30%-79% of people have these symptoms | ||
Death in infancy |
Infantile death
Lethal in infancy
[ more ] |
0001522 |
Depressed nasal bridge |
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root
[ more ] |
0005280 |
Epicanthus |
Eye folds
Prominent eye folds
[ more ] |
0000286 |
Failure to thrive |
Faltering weight
Weight faltering
[ more ] |
0001508 |
Hepatomegaly |
Enlarged liver
|
0002240 |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
Low-set ears |
Low set ears
Lowset ears
[ more ] |
0000369 |
Myopia |
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ] |
0000545 |
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
Optic atrophy | 0000648 | |
Respiratory insufficiency |
Respiratory impairment
|
0002093 |
Cross-eyed
Squint
Squint eyes
[ more ] |
0000486 | |
5%-29% of people have these symptoms | ||
Hand |
Extra finger
|
0001161 |
Hypertonia | 0001276 | |
Percent of people who have these symptoms is not available through HPO | ||
0000007 | ||
Babinski sign | 0003487 | |
Bilateral sensorineural hearing impairment | 0008619 | |
Brachycephaly |
Short and broad skull
|
0000248 |
0007305 | ||
Decreased lightand dark-adapted electroretinogram amplitude | 0000654 | |
Diffuse hepatic steatosis | 0006555 | |
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ] |
0002015 | |
0001332 | ||
Elevated hepatic transaminase |
High liver enzymes
|
0002910 |
Frontal bossing | 0002007 | |
Infantile onset |
Onset in first year of life
Onset in infancy
[ more ] |
0003593 |
Intellectual disability, progressive |
Mental retardation, progressive
Progressive mental retardation
[ more ] |
0006887 |
Inverted nipples | 0003186 | |
Irritability |
Irritable
|
0000737 |
Leukodystrophy | 0002415 | |
Neonatal hypotonia |
Low muscle tone, in neonatal onset
|
0001319 |
No social interaction | 0008763 | |
Pigmentary retinopathy | 0000580 | |
Rod-cone dystrophy | 0000510 | |
Severe global developmental delay | 0011344 | |
Wide nasal bridge |
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge
[ more ] |
0000431 |
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.
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Organizations Supporting this Disease
-
Adrenal Insufficiency United
Toll-free: 1-855-AIUnite (248-6483)
E-mail: [email protected]
Website: https://aiunited.org/
Organizations Providing General Support
-
Alex The Leukodystrophy Charity (Alex TLC)
45 Peckham High Street
London, SE15 5EB United Kingdom
Telephone: 020 7701 4388
E-mail: [email protected]
Website: https://www.alextlc.org
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
- Genetics Home Reference (GHR) contains information on Pseudoneonatal adrenoleukodystrophy. This website is maintained by the National Library of Medicine.
In-Depth Information
- 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.
- 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 Pseudoneonatal adrenoleukodystrophy. Click on the link to view a sample search on this topic.