Rare Immunology News

Disease Profile

Mandibuloacral dysplasia with type A lipodystrophy

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.

Unknown

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

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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.

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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)

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
Short stature
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
Cataract
Clouding of the lens of the eye
Cloudy lens

[ more ]

0000518
Flexion contracture
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 hypotonia
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
Autosomal recessive inheritance
0000007
Bird-like facies
Bird-like facial appearance
0000320
Hyperglycemia
High blood sugar
0003074
Impaired glucose tolerance
0040270
Increased facial adipose tissue
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.