Rare Nephrology News
Disease Profile
Mandibuloacral dysplasia with type A lipodystrophy
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.
0
Age of onset
-
ICD-10
Q87.5
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)
MADA; Lipodystrophy, type A, associated with mandibuloacral dysplasia
Categories
Congenital and Genetic Diseases; Endocrine Diseases; Musculoskeletal 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
|
|---|---|---|
| 80%-99% of people have these symptoms | ||
| Acroosteolysis of distal phalanges (feet) | 0001870 | |
| Alopecia |
Hair loss
|
0001596 |
| Aplasia/Hypoplasia of the clavicles |
Absent/small collarbone
Absent/underdeveloped collarbone
[ more ] |
0006710 |
| Dermal atrophy |
Skin degeneration
|
0004334 |
| Large fontanelles |
Wide fontanelles
|
0000239 |
| Limitation of joint mobility |
Decreased joint mobility
Decreased mobility of joints
Limited joint mobility
Limited joint motion
[ more ] |
0001376 |
| Osteolytic defects of the distal phalanges of the hand | 0009839 | |
| Progeroid facial appearance |
Premature aged appearance
|
0005328 |
| Short distal phalanx of finger |
Short outermost finger bone
|
0009882 |
|
Decreased body height
Small stature
[ more ] |
0004322 | |
| Thin skin | 0000963 | |
| Wormian bones |
Extra bones within cranial sutures
|
0002645 |
| 30%-79% of people have these symptoms | ||
| Abnormal eyebrow morphology |
Abnormality of the eyebrow
|
0000534 |
| Hyperlipidemia |
Elevated lipids in blood
|
0003077 |
| Insulin resistance |
Body fails to respond to insulin
|
0000855 |
| Proptosis |
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ] |
0000520 |
| 5%-29% of people have these symptoms | ||
| Abnormality of the dentition |
Abnormal dentition
Abnormal teeth
Dental abnormality
[ more ] |
0000164 |
| Absent eyelashes |
Failure of development of eyelashes
|
0000561 |
| Arthralgia |
Joint pain
|
0002829 |
| Breast aplasia |
Absent breast
|
0100783 |
|
Clouding of the lens of the eye
Cloudy lens
[ more ] |
0000518 | |
| Flexion |
Flexed joint that cannot be straightened
|
0001371 |
| Hearing impairment |
Deafness
Hearing defect
[ more ] |
0000365 |
| High palate |
Elevated palate
Increased palatal height
[ more ] |
0000218 |
| Hyperpigmentation of the skin |
Patchy darkened skin
|
0000953 |
| Lack of skin elasticity | 0100679 | |
| Muscular |
Low or weak muscle tone
|
0001252 |
| 1%-4% of people have these symptoms | ||
| Calcinosis |
Calcium buildup in soft tissues of body
|
0003761 |
| Percent of people who have these symptoms is not available through HPO | ||
| 0000007 | ||
| Bird-like facies |
Bird-like facial appearance
|
0000320 |
| Hyperglycemia |
High blood sugar
|
0003074 |
| Impaired glucose tolerance | 0040270 | |
| Increased facial adipose |
Increased amount of facial fat
|
0000287 |
| Joint stiffness |
Stiff joint
Stiff joints
[ more ] |
0001387 |
| Juvenile onset |
Signs and symptoms begin before 15 years of age
|
0003621 |
| Lipodystrophy |
Inability to make and keep healthy fat tissue
|
0009125 |
| Mottled pigmentation |
Mottled skin coloring
|
0001070 |
| Narrow nasal ridge |
Decreased width of nasal ridge
Pinched nose
Thin nasal ridge
[ more ] |
0000418 |
| Premature loss of teeth |
Early tooth loss
Loss of teeth
Premature teeth loss
Premature tooth loss
[ more ] |
0006480 |
| Progressive clavicular acroosteolysis | 0000905 | |
| Reduced subcutaneous adipose tissue |
Reduced fat tissue below the skin
|
0003758 |
| Sparse scalp hair |
Reduced/lack of hair on scalp
Scalp hair, thinning
Sparse, thin scalp hair
sparse-absent scalp hair
[ more ] |
0002209 |
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.
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 Mandibuloacral dysplasia with type A lipodystrophy. Click on the link to view a sample search on this topic.