Rare Pulmonology News

Disease Profile

Familial multiple lipomatosis

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

E88.2

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)

Multiple lipomatosis

Categories

Congenital and Genetic Diseases; Skin Diseases

Summary

Familial multiple lipomatosis (FML) is a rare condition that is characterized by multiple lipomas on the trunk and extremities. As the name suggests, FML is diagnosed when multiple lipomatosis occurs in more than one family member, often over several generations. The lipomas associated with FML are usually painless, but may impact quality of life as they can be numerous and large.[1][2] Although the condition appears to be passed down through families in an autosomal dominant manner, the underlying genetic cause is currently unknown.[3] Treatment is based on the signs and symptoms present in each person. Surgical excision may be necessary if the tumors interfere with movement and/or daily life.[1][2]

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
Increased adipose tissue
Increased fat tissue
0009126
Insulin resistance
Body fails to respond to insulin
0000855
Lipodystrophy
Inability to make and keep healthy fat tissue
0009125
30%-79% of people have these symptoms
Functional intestinal obstruction
0005249
Hyperlipidemia
Elevated lipids in blood
0003077
Peripheral neuropathy
0009830
5%-29% of people have these symptoms
Abnormal tricuspid valve morphology
0001702
Accelerated skeletal maturation
Advanced bone age
Early bone maturation

[ more ]

0005616
Arachnoid cyst
Fluid-filled sac located in membrane surrounding brain or spinal cord
0100702
Bowing of the long bones
Bowed long bones
Bowing of long bones

[ more ]

0006487
Cerebral calcification
Abnormal deposits of calcium in the brain
0002514
Chorioretinitis
0012424
Coloboma
Notched pupil
0000589
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
Hypoplasia of the corpus callosum
Underdevelopment of part of brain called corpus callosum
0002079
Macrocephaly
Increased size of skull
Large head
Large head circumference

[ more ]

0000256
Medulloblastoma
0002885
Odontogenic keratocysts of the jaw
0010603
Overgrowth
General overgrowth
0001548
Premature eruption of permanent teeth
Early eruption of adult teeth
Early eruption of permanent teeth
Premature eruption of adult teeth

[ more ]

0006337
Seizure
0001250
Ventriculomegaly
0002119
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance
0000006
Multiple lipomas
Multiple fatty lumps
0001012

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

    Social Networking Websites

      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

      • 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 Familial multiple lipomatosis. Click on the link to view a sample search on this topic.

        Selected Full-Text Journal Articles

          References

          1. Arabadzhieva E, Yonkov A, Bonev S, Bulanov D, Taneva I, Ivanova V, Dimitrova V. A rare combination between familial multiple lipomatosis and extragastrointestinal stromal tumor. Int J Surg Case Rep. 2015; 14:117-120.
          2. Tana C, Tchernev G. Images in clinical medicine. Familial multiple lipomatosis. N Engl J Med. September 2014; 371(13):1237.
          3. LIPOMATOSIS, MULTIPLE. OMIM. August 2010; https://www.omim.org/entry/151900.