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Disease Profile
Mitochondrial Membrane Protein-Associated Neurodegeneration
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.
1-9 / 1 000 000
Age of onset
Childhood
ICD-10
G23.0
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)
MPAN; NBIA due to C19orf12 mutation; NBIA4;
Categories
Congenital and Genetic Diseases; Eye diseases; Nervous System Diseases
Summary
Orpha Number: 289560
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 | ||
Babinski sign | 0003487 | |
Behavioral abnormality |
Behavioral changes
Behavioral disorders
Behavioral disturbances
Behavioral problems
Behavioral/psychiatric abnormalities
Behavioural/Psychiatric abnormality
Psychiatric disorders
Psychiatric disturbances
[ more ] |
0000708 |
Difficulty articulating speech
|
0001260 | |
Hand tremor |
Tremor of hand
Tremor of hands
tremors in hands
[ more ] |
0002378 |
Mental deterioration |
Cognitive decline
Cognitive decline, progressive
Intellectual deterioration
Progressive cognitive decline
[ more ] |
0001268 |
Muscle weakness |
Muscular weakness
|
0001324 |
Postural instability |
Balance impairment
|
0002172 |
Rigidity |
Muscle rigidity
|
0002063 |
30%-79% of people have these symptoms | ||
Abnormal globus pallidus morphology | 0002453 | |
Abnormal substantia nigra morphology | 0045007 | |
Bowel incontinence |
Loss of bowel control
|
0002607 |
Bradykinesia |
Slow movements
Slowness of movements
[ more ] |
0002067 |
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ] |
0002015 | |
0001332 | ||
Frequent falls | 0002359 | |
Hyperactive deep tendon reflexes | 0006801 | |
Motor axonal neuropathy | 0007002 | |
Optic atrophy | 0000648 | |
Parkinsonism | 0001300 | |
Spastic paraparesis | 0002313 | |
Urinary incontinence |
Loss of bladder control
|
0000020 |
5%-29% of people have these symptoms | ||
Abnormal saccadic eye movements | 0000570 | |
Cerebellar atrophy |
Degeneration of cerebellum
|
0001272 |
Global |
0001263 | |
Shuffling gait |
Shuffled walk
|
0002362 |
1%-4% of people have these symptoms | ||
Respiratory insufficiency |
Respiratory impairment
|
0002093 |
Percent of people who have these symptoms is not available through HPO | ||
Abnormal lower motor neuron morphology | 0002366 | |
0001251 | ||
0000006 | ||
0000007 | ||
Delayed speech and language development |
Deficiency of speech development
Delayed language development
Delayed speech
Delayed speech acquisition
Delayed speech development
Impaired speech and language development
Impaired speech development
Language delay
Language delayed
Language development deficit
Late-onset speech development
Poor language development
Speech and language delay
Speech and language difficulties
Speech delay
[ more ] |
0000750 |
Dementia, progressive
Progressive dementia
[ more ] |
0000726 | |
Depressivity |
Depression
|
0000716 |
Distal amyotrophy |
Distal muscle wasting
|
0003693 |
Distal muscle weakness |
Weakness of outermost muscles
|
0002460 |
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 |
Emotional lability |
Emotional instability
|
0000712 |
Gait disturbance |
Abnormal gait
Abnormal walk
Impaired gait
[ more ] |
0001288 |
Hyperreflexia |
Increased reflexes
|
0001347 |
Hyporeflexia |
Decreased reflex response
Decreased reflexes
[ more ] |
0001265 |
Impulsivity |
Impulsive
|
0100710 |
Lewy bodies | 0100315 | |
Neurodegeneration |
Ongoing loss of nerve cells
|
0002180 |
Oromandibular dystonia | 0012048 | |
Pes cavus |
High-arched foot
|
0001761 |
Progressive |
Worsens with time
|
0003676 |
Progressive visual loss |
Progressive loss of vision
Progressive vision loss
Progressive visual impairment
Slowly progressive visual loss
Vision loss, progressive
Visual loss, progressive
[ more ] |
0000529 |
Scapular winging |
Winged shoulder blade
|
0003691 |
Involuntary muscle stiffness, contraction, or spasm
|
0001257 | |
Tremor | 0001337 |
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.
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.