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Disease Profile
Congenital generalized 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.
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Age of onset
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ICD-10
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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)
Brunzell syndrome; BSCL; GCL;
Categories
Congenital and Genetic Diseases; Endocrine Diseases; Skin Diseases
Summary
There are 4 types of the disease that are distinguished by the altered (
The inheritance of Berardinelli-Seip congenital lipodystrophy is
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 | ||
Adipose |
Loss of fat tissue
|
0008887 |
Hepatomegaly |
Enlarged liver
|
0002240 |
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 | ||
0000819 | ||
Hypertrichosis | 0000998 | |
Hypertriglyceridemia |
Increased plasma triglycerides
Increased serum triglycerides
Increased triglycerides
[ more ] |
0002155 |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
5%-29% of people have these symptoms | ||
Abnormal facial shape |
Unusual facial appearance
|
0001999 |
Darkened and thickened skin
|
0000956 | |
Accelerated skeletal maturation |
Advanced bone age
Early bone maturation
[ more ] |
0005616 |
Bone cyst |
Bone cysts
|
0012062 |
Cirrhosis |
Scar tissue replaces healthy tissue in the liver
|
0001394 |
Clitoral hypertrophy |
Enlarged clitoris
|
0008665 |
Congestive heart failure |
Cardiac failure
Cardiac failures
Heart failure
[ more ] |
0001635 |
Failure to thrive |
Faltering weight
Weight faltering
[ more ] |
0001508 |
Global |
0001263 | |
Hepatic steatosis |
Fatty infiltration of liver
Fatty liver
[ more ] |
0001397 |
Hypercholesterolemia |
Elevated serum cholesterol
Elevated total cholesterol
Increased total cholesterol
[ more ] |
0003124 |
Hyperinsulinemia | 0000842 | |
Hypertrophic |
Enlarged and thickened heart muscle
|
0001639 |
Increased C |
0030796 | |
Large hands |
large hand
|
0001176 |
Long foot |
Disproportionately large feet
large feet
long feet
[ more ] |
0001833 |
Low anterior hairline |
Low frontal hairline
Low-set frontal hairline
[ more ] |
0000294 |
Low posterior hairline |
Low hairline at back of neck
|
0002162 |
Macroglossia |
Abnormally large tongue
Increased size of tongue
Large tongue
[ more ] |
0000158 |
Mandibular prognathia |
Big lower jaw
Increased projection of lower jaw
Increased size of lower jaw
Large lower jaw
Prominent chin
Prominent lower jaw
[ more ] |
0000303 |
Overgrowth of external genitalia | 0003247 | |
Prominent superficial veins |
Prominent veins
|
0001015 |
Prominent supraorbital ridges |
Prominent brow
|
0000336 |
Proportionate tall stature | 0011407 | |
Psychomotor retardation | 0025356 | |
1%-4% of people have these symptoms | ||
Amenorrhea |
Abnormal absence of menstruation
|
0000141 |
Oligomenorrhea |
Light or infrequent menstrual periods
|
0000876 |
Polycystic ovaries | 0000147 | |
Precocious puberty in females | 0010465 |
Related diseases
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
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Differential diagnoses include laminopathies and Parry-Romberg syndrome (see these terms).
Visit the Orphanet disease page for more information.
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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) lists the subtypes and associated genes for Congenital generalized lipodystrophy in a table called Phenotypic Series. Each entry in OMIM includes 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.
References
- Berardinelli-Seip. Genetics Home Reference. 2016; https://ghr.nlm.nih.gov/condition/berardinelli-seip-congenital-lipodystrophy.
- Maldergem LV. Berardinelli-Seip Congenital Lipodystrophy. GeneReviews. 2016; https://www.ncbi.nlm.nih.gov/books/NBK1212/.
- Monajemi H, Stroes E, Hegele RA, and Fliers E. Inherited Lipodystrophies and the Metabolic Syndrome. Clin Endocrinol. 2007; 67(4):479-484. https://www.medscape.com/viewarticle/564557_3.