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Disease Profile
FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome
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.
#N/A
Age of onset
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ICD-10
#N/A
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)
mtDNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies; Encephalomyopathic mitochondrial DNA depletion syndrome-13; MTDPS13;
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
|
---|---|---|
5%-29% of people have these symptoms | ||
Arrhythmia |
Abnormal heart rate
Heart rhythm disorders
Irregular heart beat
Irregular heartbeat
[ more ] |
0011675 |
0001251 | ||
Clouding of the lens of the eye
Cloudy lens
[ more ] |
0000518 | |
Cerebellar atrophy |
Degeneration of cerebellum
|
0001272 |
Choreoathetosis | 0001266 | |
0001332 | ||
Elevated hepatic transaminase |
High liver enzymes
|
0002910 |
Hypertrophic |
Enlarged and thickened heart muscle
|
0001639 |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | |
Neutropenia |
Low blood neutrophil count
Low neutrophil count
[ more ] |
0001875 |
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
Plagiocephaly |
Flat head syndrome
Flattening of skull
Rhomboid shaped skull
[ more ] |
0001357 |
Recurrent infections |
Frequent infections
Frequent, severe infections
Increased frequency of infection
infections, recurrent
Predisposition to infections
Susceptibility to infection
[ more ] |
0002719 |
Renal tubular acidosis |
Accumulation of acid in body due to kidney problem
|
0001947 |
0002650 | ||
Short foot |
Short feet
Small feet
[ more ] |
0001773 |
Percent of people who have these symptoms is not available through HPO | ||
0000007 | ||
Cerebral atrophy |
Degeneration of cerebrum
|
0002059 |
Concave nasal ridge |
Boxer's nasal deformity
Boxer's nose deformity
Saddle nose
Ski jump nose
[ more ] |
0011120 |
Delayed myelination | 0012448 | |
Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ] |
0002015 | |
0001298 | ||
Epicanthus |
Eye folds
Prominent eye folds
[ more ] |
0000286 |
Everted lower lip vermilion |
Drooping lower lip
Outward turned lower lip
[ more ] |
0000232 |
Failure to thrive |
Faltering weight
Weight faltering
[ more ] |
0001508 |
Gastroesophageal reflux |
Acid reflux
Acid reflux disease
Heartburn
[ more ] |
0002020 |
Generalized |
Decreased muscle tone
Low muscle tone
[ more ] |
0001290 |
Global |
0001263 | |
Growth delay |
Delayed growth
Growth deficiency
Growth failure
Growth retardation
Poor growth
Retarded growth
[ more ] |
0001510 |
Hyperalaninemia |
Increased blood alanine
Increased serum alanine
[ more ] |
0003348 |
Hypoplasia of the |
Underdevelopment of part of brain called corpus callosum
|
0002079 |
Hypospadias | 0000047 | |
Increased serum lactate | 0002151 | |
Lactic acidosis |
Increased lactate in body
|
0003128 |
Leukodystrophy | 0002415 | |
Mitochondrial respiratory chain defects | 0200125 | |
Narrow face |
Decreased breadth of face
Decreased width of face
[ more ] |
0000275 |
Protruding ear |
Prominent ear
Prominent ears
[ more ] |
0000411 |
0001250 | ||
Severe global developmental delay | 0011344 | |
Skeletal muscle atrophy |
Muscle degeneration
Muscle wasting
[ more ] |
0003202 |
Small for gestational age |
Birth weight less than 10th percentile
Low birth weight
[ more ] |
0001518 |
Thick eyebrow |
Bushy eyebrows
Dense eyebrow
Heavy eyebrows
Prominent eyebrows
Thick eyebrows
[ more ] |
0000574 |
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 Providing General Support
-
United Mitochondrial Disease Foundation
8085 Saltsburg Road, Suite 201
Pittsburgh, PA 15239
Toll-free: 1-888-317-8633
Telephone: +1-412-793-8077
Fax: +1-412-793-6477
E-mail: [email protected]
Website: https://www.umdf.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.
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.
- 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.